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The Hospital Facility Matters

When I was first diagnosed with CF back in 1991, my CF doctor at the time reiterated the importance of going to Seton Medical Center and their accompanying ER if/when I needed treatment after hours. Back then, we didn’t have a CF care team per se and we definitely didn’t have an accredited CF care center. Trips to see my CF doctor meant an appointment first thing at his office (he was primarily a pediatrician), bypassing the waiting room and nothing much different than a regular doctor’s visit other than the addition of a lung function test. Until recently, I’ve always gone to Seton for any ER visits and any CF tune-ups. If you’ve read CF Roundtable or our blog for a few years now, you might remember the one time I had to go to the ER in Dallas and the subsequent chaos and financial burdens from that visit. 

This past month I felt a pain in my sternum area which was similar to the pain I felt when I unknowingly had gallstones back in 2008. Since I no longer have a gallbladder and apparently have a short memory with pain in that area, I chalked it up to the start of a blockage and referred pain. This pain came and went for a few days and seemed consistent with a blockage since I wasn’t really going to the bathroom much. On the third day, that pain skyrocketed so I took a dose of magnesium citrate. Within an hour I had severe cramping and excruciating pain that had me in tears. I’ve never experienced such pain in my life and that’s saying something since I had a frontal sinus obliteration in 2011. My husband insisted on a trip to the ER as he had never heard me in such pain from a blockage. Close to midnight on a Saturday, we make the trek to the ER but we choose one that is still in network, but one that is much closer to us and incidentally has better parking. If you live in Austin, I’m sure you can relate to the parking woes everywhere.

The ER gave me some morphine and ordered a CT with contrast. The ER doctor said the scan showed colitis, which causes a thickening of the intestinal walls. He highly recommended I be admitted for a gastrointestinal (GI) consult the following day. I went back and forth with the doctor as this wasn’t really on my radar when we went in—it was just a blockage! I would get some pain relief, get confirmation of the blockage, and be on my merry way to suffer in misery at home. After the drama with the hospital in Dallas, I knew transferring to Seton wasn’t in the cards as my insurance would argue that I could get the same care at either place. I begrudgingly agreed to be admitted. If you’ve ever been admitted, whether through the ER or directly, you know that administrative wheels move slowly. They moved me to a holding room (basically a different ER bed that’s converted to a room temporarily until a bed opens up) in the ER until around 10 a.m. the next morning when I was finally taken up to a hospital room. Since I have a history of CF-related liver disease, I was experiencing pain in the gallbladder area, and I’ve already had two endoscopic retrograde cholangiopancreatography (ERCP) procedures to clear out the sludge and stones in my bile duct, they ordered a magnetic resonance cholangiopancreatography (MRCP) which is a specialized MRI test used to look at the bile ducts, pancreas, and liver. They also ordered an MRI with contrast of my abdomen. The results showed more sludge and stones in my bile duct so I was put on a clear liquid diet for the remainder of the day with NPO starting at midnight for another ERCP on Monday. I had the procedure and felt much better.

This is the part of the story where I say why the hospital matters. During my three-day stay, I was asked about my drug allergies multiple times but they weren’t recorded completely and I have a rather extensive list of drug allergies. The hospitalist (the hospital doctor who oversees everything related to my admit at the hospital) ordered IV Zosyn to treat my colitis while I was waiting for my procedure. I had to reiterate that I was allergic to Zosyn after the second time it was ordered. The hospitalist was frustrated with me and noted that I don’t have many other options and I have to get something so I suggested meropenem, which is what I’m typically given when admitted for a tune up. Since they wanted to start IV antibiotics, I asked them to run them through my port. I have terrible veins to begin with and peripheral IVs usually only last a day before they need to start a new one. There’s a reason why I have a port. Additionally, I came in with bilateral bruising because we have a mouthy, nibbling puppy who leaves little love bruises and bites all over my arms so my arms were already pretty battered before they started doing labs and IVs. I asked and pleaded for my port to be accessed many times from every nurse and lab tech that came to my room. They refused. I got a variety of answers why: it’s not clean, you’re allergic to chlorhexidine and hospital policy states that anyone with a central line has to have a daily chlorhexidine-wipe bath to keep the site clean and free of infection, etc. I’ve had my port for almost a decade and I’ve never once had an infection or a problem keeping it clean. Instead, they went through three peripheral lines and I was poked several other times at 5 a.m. for lab draws. By the third morning I growled at the lab tech that all of this could have been done through my port and we could have saved all these blown veins! She asked to draw blood from my hand and I emphatically denied her—hands are for emergency access only and I’m clearly not about to die if this lab isn’t drawn. Seton, on the other hand, lets me come into the hospital accessed so long as my husband initials and dates the dressing so they know when it’s time for a dressing and needle change. It wasn’t until I was admitted elsewhere that I realized how much of a blessing that policy is as I prefer my husband to access my port. There is a short list of two people I allow to access my port thanks to my favorite home health nurse who taught both of us to be protective of my port and who accesses it. 

I was also asked for my medication list multiple times but the pharmacy and hospitalist collectively struggled getting most of them—many weren’t in the formulary, many weren’t available in the correct dose, and others took eight to ten hours to get to me. In the end, I had my husband bring the necessary ones like Trikafta from home. Most of the vitamins I skipped for since it was more of a hassle than anything. Additionally, the entire time I was there, very few of the hospital staff wore a mask and those that did wore them under the nose, which is pointless. None of the staff I interacted with, either in the ER on the hospital floor, gowned up. Zero contact precautions. I should have asked and insisted, but at the time I just wanted to get the ERCP and get discharged. I was apparently the only CF patient anyone had ever had so no one really knew what CF was and what that meant in a hospital setting. Not surprisingly, after my procedure (which has benefited from science since the last time as it was all done through my throat without any laparoscopic incisions) my throat was sore and my lungs felt junky. When my cough came back with a vengeance (the anesthesia/surgery and a lack of Trikafta from being NPO too long contributed to this) I asked for a nebulizer treatment and a respiratory therapist (RT). This took way too long to happen and they were only able to give me Xopenex. The 7% hypertonic saline, pulmozyme, and cromolyn sodium that I usually nebulize along with Xopenex when I do treatments at home weren’t an option. The RT came to my room the following morning after visiting a patient in the ICU. The RT was not gowned up and wasn’t wearing a mask. While she was getting my meds together and charting, she asked if I normally go to Seton. I nodded and she let me know she used to work as an RT at Seton on the fourth floor, where the CF patients are admitted. In fact, she remembers working with my first CF doctor. He was a force to be reckoned with in the hospital—he got stuff done stat but he also barked orders in the process. Despite all this and despite knowing CF protocols and contact precautions, she still came to my room without a mask and no gown. I was floored. 

In the end, I did finally get the ok to go home with an oral antibiotic through the end of the week with Benadryl pre-dosing to quell the allergic reaction. Being insanely itchy gets old quickly; I’m grateful I didn’t break out into hives and need an EpiPen. 

I learned a lot of lessons those three days. I’m glad I made the choice I did if for nothing other than the knowledge down the road. I’m happy I chose the closer ER as I did get stronger pain relief more quickly. I came into the ER with an 11/10 on the pain scale and it took several doses to bring it down to a 4/10. My pain hovered around 6/10 for most of the time so I’m grateful that I didn’t have to argue for IV pain meds when oral ibuprofen wouldn’t have worked at all. Seton and my CF clinic across the board are both very strict with their pain medication policies. I’m also happy I went to the closer hospital because my GI doctor works next door to the hospital so I was able to see him personally on Sunday and his team was able to do the procedure. They don’t work with Seton so that would have been a different issue had I gone to Seton in the first place. The hospital I went to is unequivocally not set up for CF care. It’s just not something they’re familiar with in any sense. Seton routinely has CF patients admitted so the nurses on the fourth floor are well versed in CF protocols—the antibiotics, the RT treatments, the contact precautions, etc. This hospital had nicer rooms but I’ll take the familiarity with CF over the amenities if given the choice. This whole endeavor was a glaring reminder that I need to research and know ahead of time the best hospital with experience in CF care when I travel just in case I need to go to the ER and/or be admitted outside of my home hospital. The hospital does matter. And CF is still a rare disease. It’s easy to think otherwise when you’re plugged into the CF community most of the time but outside that bubble, it’s not necessarily something people and the medical community are particularly knowledgeable about, which is worrisome when you’re relying on that medical community for care.

 

Sydna Marshall is 43 years old and has CF. She is the President and Managing Editor of USACFA and CF Roundtable. She lives in Austin, TX with her husband, Adam, and her two furbabies, Cutty (12) and Mickey (1). When she’s not corralling her toddler puppy she’s reading, working on jigsaw puzzles, cooking up buttery goodness in the kitchen, and recentering herself on her yoga mat. Her contact information is on page 2. 

Marshall

pearls of wisdom:
Blessings And Curses—Getting Creative With Colon Cancer Screening

Nothing starts a new year off right like revisiting an old favorite story! In thinking about what to write for my column for this Focus Topic on Cancer, I once again found myself reminiscing about the experience of my colonoscopy procedure in 2008. It certainly proved useful for the findings; I don’t regret having the procedure. My gastroenterologist back in New Jersey was able to give me a lot of insight about inflammation in and damage to my intestinal mucosa from what was later confirmed to be CF. 

If you’re new to the “Pearls of Wisdom” column, a quick refresher: I was tentatively diagnosed with CF around age 5 but didn’t get a conclusive diagnosis until just before turning 33. Having my colon explored with a camera helped to document and make sense of some of the issues I’d been experiencing for my entire life. It also introduced quite a few problems of its own. Because of this, my care team here in Florida has taken a creative approach to looking out for evidence of colon cancer to space out routine colonoscopies as much as possible.

Before I go into any details on this, I should remind everyone that gastrointestinal issues from CF exist on a spectrum and can vary widely from one person to another. So what works well for my own care may be completely inappropriate for another patient’s needs.

Some specifics: I’m fairly typical on the macro level in that I’ve had exocrine pancreatic insufficiency for most of my life, although I had better digestive enzyme output in childhood than a lot of my peers. And like many other folks with CF who have a lot of gastrointestinal involvement, I deal with a mixture of diarrhea and constipation. Even after years of pancreatic enzyme replacement therapy, I still experience steatorrhea (very loose stools full of oil) daily. Occasionally I also get distal intestinal obstruction—blockages in a specific part of the small bowel. 

Unlike some people though, I usually only get partial obstructions and deal with a lot more diarrhea than constipation most of the time. That last bit matters tremendously because having generally rapid gastrointestinal “transit” where nothing stays in a person’s body for long is often associated with lower overall risk of colon cancer. 

Family history also matters. I don’t know all of my immediate genetic relatives and probably never will. As far as I know though, none of my direct ancestors or siblings have experienced colon cancer. My maternal grandmother did have a couple of large polyps removed from her colon shortly before dying at age 91. The polyps weren’t malignant and no further intervention was done. If I manage to survive to that age, I suspect I won’t mind too much if I do eventually develop colon cancer. In that situation, I doubt I’d elect to do anything other than have the polyps removed. Maybe not even that, depending on how much they were impacting my overall colon function. 

I’m pretty frank about death; like many of us, I came very close in my early 20s. Indeed, my intensive care stay at 23 was part of the impetus for getting that first colonoscopy done. In retrospect it all makes a lot of sense; of course I was ravenously hungry all the time but unable to keep anything down. Anything I did manage to hold down would just rot inside me and come out as a foul sewage-like substance. I still remember the time I vomited two quarts of stinking black slime in the middle of the night from what was almost certainly a complete small bowel blockage. 

Not difficult to imagine why CF can elevate our collective risk for colon cancer after seeing (and smelling) the contents of that sink. Unfortunately I didn’t make it to the toilet. My mom heroically cleaned up the mess after putting me in a fire carry and depositing me back in bed.

I promised you a story, didn’t I? Well, here it is: When I had that first colonoscopy, my mom took care of me afterwards while I recovered fully from the anesthesia. Why she was the one doing the caregiving is beyond the scope of this article. Let’s just say she wound up with a lot of data behind the ominous warning she gave to my spouse when I had all those gum surgeries many years later. Folks, this person married me after I put them through an absolute gauntlet of horrors while heavily sedated. I highly recommend getting a spouse who embraces the spirit of “in sickness and in health” full weight.

Anyway, my mom is the original champion of wrangling me while anesthetized. This might not sound like much of a challenge—I have weighed about 85 pounds on a 5’4” frame for my entire adult life. However, my “skeleton strength” becomes especially prominent when it is least useful. I also have an unfortunate tendency to flail my proportionally long limbs around like an octopus when heavily sedated. My spouse has observed various other octopus-like behavior, such as latching different appendages onto their shoulders and attempting to climb on them. Typical post-surgical behavior for me is a combination of belligerent aggression, attempts to escape, copious vomiting, and dubious bowel control.

This is not a good combination. J initially suspected some hyperbole in my mom’s warnings about what caring for me after surgery requiring sedation would involve. You might say I made them a believer.

Routine colonoscopies are thus anything but for me. Both the preparation and the procedures themselves basically throw me right back into the same health experiences that sent me to intensive care at 23. I’m lucky to have much better lung function than many of my age peers with the help of inhaled corticosteroids and a lot of infection control precautions. I got a much worse lot with my gastrointestinal function in exchange for feeling like I can breathe reasonably well, a trade-off I’ll take any day of the week. But although I’ve learned to live with constant diarrhea that dramatically shapes my daily patterns of activity, I have limited reserves for dealing with serious impediments to nutritional health.

There’s also the broader angle of just feeling like garbage for very little gain. Although I can readily find the humor in my mom’s recollections of how I alternated between barraging her with lengthy streams of curse words and going totally unresponsive for several hours after she brought me back home from the outpatient surgical ward, it’s not so easy to see the funny side of having my health sent quite literally down the toilet for weeks on end just so someone can stick a camera up my rectum and tell me things I already know.

Teaching medical school exposes me regularly to the concept of iatrogenic harm, a fancy way of saying that sometimes getting a health care intervention can hurt more than it helps. So my care team and I try to balance the inherent harm of putting me under anesthesia to get my colon scoped with the need for periodic monitoring for early warning signs of colorectal cancer. Our approach for the past few years draws on our collective knowledge of the clinical literature on gastrointestinal cancer screening and our learned confidence in my willingness to collect samples of my own poop for submission to labs. 

This isn’t as easy as it sounds. I’ll spare everyone reading this a detailed description of my feces and say instead that a lab tech whose nephew has CF took one look at the sample I handed over and asked if I had the same disease. So trying to corral a substance that is simultaneously a liquid, an industrial-strength adhesive, and a textbook example of non-Newtonian states of matter is par for the course in collecting a stool sample for lab analysis. Not precisely my idea of fun—but the alternative is much worse. And I absolutely find it a blessing to have that option.

Using fecal analysis to screen for cancer indicators also lets us work smarter rather than harder with other aspects of my care. Because my digestion remains relatively poor even with the massive improvements I’ve seen on enzyme therapy, we’d need to submit a stool sample periodically for other tests like fecal fat and fecal pancreatic elastase. So when it’s time to poop in a cup (or rather into a much larger collection vessel before transferring some of the mess into a specimen jar) we can get a lot of value out of a single sample by submitting it for multiple lab orders at once.

Combined with routine bloodwork and observational data, screening my feces periodically for occult blood (sadly less cool than it sounds) to gives us regular information about my colorectal cancer status. I do occasionally have to get a colonoscopy as well, of course. But being able to go longer between procedures helps preserve my overall health. And although my spouse is truly a champion caregiver just like my mom was for so many years, I’d rather spare them the ridiculous antics whenever possible!

 

Dr. Alexandra “Xan” Nowakowski is 40 years old and has CF. Xan is a director of CF Roundtable, and is the Secretary, in addition to being a medical sociologist and public health program evaluator. They currently serve as an Associate Professor in the Geriatrics and Behavioral Sciences and Social Medicine departments at Florida State University College of Medicine. They also founded the Write Where It Hurts project (www.writewhereithurts.net) on scholarship engaging lessons from lived experience of illness and trauma with their spouse, Dr. J Sumerau. You can find their contact information on page 2.

pearls sp24

Adventures Abound:
a man who was 
gonna die young

Ahh spring is here. It’s my favorite time of year for so many reasons. I love sleeping with the windows open at night, feeling the cool air and falling asleep to the melodious chorus of spring peepers. I love watching everything come back to life as the ground begins to warm the curse of winter and give way to the sunshine. I love the way wisteria and azaleas show off their dramatic color against a backdrop of chartreuse-colored leaves that line every branch in the forest. I always spend as many waking hours as possible in the woods, but in springtime it’s just a little extra special. I can hear the gobble of wild turkeys, watch baby fawns gallivanting around, and inhale the aroma of honeysuckle and every other flowering plant around.

I also consider myself an amateur chef so of course with new life comes lots of opportunities to gather wild things to eat. I love spending hours in search of morel mushrooms with my dad just as he did with his father. I also love gathering dandelion greens for cooking dandelion gravy. Now if you’re having serious FOMO (Fear Of Missing Out) due to never having tasted the delectable treat called dandelion gravy, I have good news for you! The secret family recipe is included below.

 Spring is also the season for Great Strides fundraiser events. Each year there are around 300 walk-a-thons for cystic fibrosis held all over the United States with hundreds of attendees at each one. Admittedly, it’s been quite some time since I’ve been included in that count. Partially because life is busy, I suppose, but there was certainly a time in my life that I actively avoided going. I just wanted to live a normal life and not be so different from everyone around me. That said, I do plan on attending my local walk this year in Wilmington and I’m very much looking forward to it. I have many great memories of Great Strides Day when I was a youngster. My entire family and many family friends would attend and volunteer to run different aspects of the event. I am extremely humbled and eternally grateful now as I think back to the vast support I received, both in time and monetary gifts to the foundation. 

 One not-so-pleasant memory has also stuck with me from a walk-a-thon one year. While I don’t recall exactly how old I was, I suppose I was between eight and ten years old. Early in the afternoon, prior to the walk, I’d had a brief chat with the local radio station, FM 95.3, talking about life with CF. After the interview while waiting for the walk to begin I was roaming around reading the various signs around the check-in tent. Some were details about what exactly CF is and how it affects the human body. That was boring to me. I knew exactly how it affected my body. Another sign made mention of the amount of money raised over the years for research and the progress being made in that regard. Of course, that was exciting to read. Then I found a sign laden with numbers and statistics about CF: 30,000 people in the U.S. have it; F508del is the most common mutation; 40 years is the average life expectancy, and so forth. Wait, what. I had to reread that. 40 years is the average life expectancy? Now, when you’re eight or ten years old, 40 seems awfully far away. But after doing some quick mathematical figures in my head I came to the sobering realization, according to that sign, I’ve already lived a quarter of my life. Whoa. 

 The remainder of that day was action packed and I was soon preoccupied with conversations and other activities of the day. Nonetheless, from that point on, that statistic floated around in the back of my mind haunting me like a ghost. Life went on as it does and by the time I was 17 years old I had watched three dear friends with CF all decline rather rapidly and pass away: Eva, Jacob, and Danny all left this world far too soon.  

I first met Eva when I was seven and she was a year younger than me. She and I attended elementary school together which was awesome. Somehow, just knowing someone else in that building was fighting the same battle made it so much easier to walk up and down those halls. Our parents were also close friends and organized many of the local CF fundraising events so Eva and I were always present and helping where we could in an effort to bring awareness and raise money for the cause. Everything from the walk-a-thons, to banquets to an annual CF fundraiser at our school called the Kiss-A-Pig contest. The thing that sticks out to me most about Eva was her joyful spirit. While she had many complications with CF including having a liver transplant and living with a feeding tube for many years, I never once heard her complain and her sweet disposition never faded. Eva passed on from this life when she was only 13 years old. I miss her dearly.  

Jacob and Danny were brothers and I met them when I was in my early teens. We were actually second cousins so our families would attend reunions and have dinners together. Jacob loved to fish and one of my favorite memories was fishing with him at the little pond on his family’s farm. Danny loved to hunt and while I never got to hunt with him, I did receive the 12-gauge Remington shotgun that used to be his. To this day I still think of him every time I carry that gun into the field in search of wild turkeys or other game birds. Jacob passed away when he was 19 years old and Danny passed away years later at the age of 35. I will forever cherish the time I got to spend with both of them. 

Fast forward to 2024. I’m starting my fourth decade of life, with forty being the next big milestone on the horizon. Thankfully, today we see the average life expectancy continue to increase each year and many folks with CF are living into their 50s, 60s, and beyond. While I’ve made peace with the fact that statistically my life may be shorter than average, I also choose to let that fact be the impetus that pushes me to live life fearlessly and adventurously. So, what does any of this have to do with wild adventures as the name of my column suggests? Well, of course life itself is the greatest adventure any of us could have but I also find poetic correlations to the journey of life in many of my quests. 

I was having a conversation with my mother several days ago and she reminded me of a discussion we had many years ago when I was quite young. She had asked me if I ever wished to have been born without CF. I thought for a moment and said, “No I really don’t wish that. If not for my CF, there would be so many friends I never would have met and so many experiences I never would have had.” That statement still rings true today. Obviously, I don’t know what life would look like if I didn’t have CF. What I do know however, is I’ve met and connected with some of the most incredible people along the way that otherwise would have remained strangers in this great big world. Life is tragic in many ways but with family and friends by our side, I believe we can withstand any of the storms that are sure to come. 

 

Dandelion Gravy

This is an old family recipe and a classic for our family and in the Amish community. This recipe is a good guideline but feel free to add or subtract ingredients according to your preferred taste. Try to pick dandelion greens from plants that still have yellow flowers as these will have the best flavor. This is best served over mashed potatoes but baked or boiled potatoes will also do the trick. Enjoy!

 

• 1/2 lb of bacon (or more if you love bacon, as I do)

• 4 tbsp flour 

• 3 cups milk at room temperature (add more if needed for preferred consistency) 

• 2 tbsp white sugar

• Salt and pepper to taste

• 3 tbsp balsamic vinegar (adjust to personal preference) 

• 5 hard-boiled eggs, sliced or diced

• Approximately 2 cups of fresh dandelion greens

 

Cut bacon into small pieces and fry in a medium to large saucepan. Fry bacon to your preference, leaving all of the grease in the pan. Whisk in the flour, stirring constantly, and let cook for a few minutes. When the flour slurry is brown, whisk in the milk. Let simmer briefly until gravy thickens. Add the sugar, vinegar, and salt and pepper to taste. Add in the eggs. Just before serving, add the star of the show, the dandelion greens, and gently fold into the gravy. 

 

Marcus Miller is 31 years old and has CF. He lives outside Wilmington, North Carolina, about 30 miles from the Atlantic Coast. He has the best pup in the world, a Siberian Husky, named Emma and she accompanies him on most of his adventures. His true passions in life are hunting, archery, running/fitness, hiking and camping, and basically anything that gets him out in nature. If you’d like to follow his adventures or reach out to him, you can find him on IG @marcusrmiller or send him an email at mmiller@usacfa.org.

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Pet’s Perspective:
trixie's lament

As you may remember, my name is Trixie (from Poughkeepsie, but I’m really from Tennessee y’all). You may recall me from my last missive that I wrote for this rag in Winter 2023. I wrote about being rescued and placed with this whacky family. Things have been going decently. I cannot complain much but do wish to lodge a complaint. To those who care, see below. 

So, one day in May last year, my mom slunk out with a backpack and just left me for six days with my two brudders, Willie (so silly) and Roscoe (from Moscow). I heard nothing from her until The Boss (aka Steve) dropped a smelly shirt on my bed. I immediately didn’t want a stinky garment on my snooze cushion until I realized it was full of scents of mom (who, unbeknownst to me, wore it for three days straight). Inhaling those first blasts of her essence hit my brain box and it immediately calmed me. I slept on that shirt in my bed for three more days until her return. Before that, I’d get up, look around and realize she was gone. It was then I’d let out a big pitiful sigh/cry. How could she leave me? I’d been a good girl, hadn’t I?!

It wasn’t until she returned that I understood she had been in the hoosegow, a/k/a the hospital, a/k/a club med, a/k/a The Big House. I was so excited to see and smell her in person; I lost my mind and did donuts all around her jumping up to kiss her in the face. I had to compete with the brudders but I know she missed me the mostest. 

She tried to explain to me why she left and here is what I got—something about getting rabbit cooties to keep her implanted lungs from being battered by her moon system. Oh wait, I looked it up on the Google—she said she got rATG antibodies, which are from bunnies and is a treatment for people who are in rejection—who could reject my mom?! I would never. With this treatment, she was even more immune-suppressed than before, and this would last for three months. So, we didn’t see anyone outside of our family unit unless it was outdoors or in a well-ventilated area. I liked this because then I could be there with her. [Mom here, rATG or Thymoglobulin is used to prevent or treat graft-versus-host disease or rejection of transplanted solid organs and is only done in a hospital setting.]

Apparently, her lung function was declining every time she went to transplant clinic; not by leaps and bounds like classic rejection but incrementally. I noticed on our walks that she was sometimes short of breath and had to stop more frequently for breaks. Her transplant doctors tried everything: steroids, IV antibiotics, time. Nothing helped. So, she did what her doctors suggested and checked herself in for just keeping what lung function she had from sliding away. It was not going to give her much higher numbers on her PFTs but stabilize what lung function she still had. There were potential side effects like being allergic to the antibodies and having to be put in the ICU or having a severe rash or flu-like symptoms. That is why massive amounts of steroids are given while administering the rabbit antibodies. As a result, her blood sugars were sky high. Thankfully, she said she only had a headache once the treatment started and then after two days was ok. Being the chef de cuisine at our doghouse, she said the food was decent and she enjoyed the break of not having to figure out what to cook each night. A mini vacation of sorts.

To combat her high blood sugars and tedium, my mom requested a stationary bike be brought into her room, but that was not possible so they gave her a peddle bike that she could use while seated in a chair. She used it while watching her stories on her iPad. It supposedly brought her sugars down slightly but she had to increase her insulin use on hyper drive, almost doubling the amount of insulin just to keep her sugars around 200, which is supposedly high for a person. Sleep was quite elusive (I cannot imagine that!) and she started taking melatonin to get any sleep. She explained to me that in the wee hours of the morning, she was awoken to be poked and prodded for blood work, blood pressure checks, and oxygen saturation. My my, what I take for granted!

My mom likes to get out and move and bikes at home. This I will never understand. I am happiest when I’m just chilling with my peeps, with her and The Boss, getting pets, eating my chow, and sleeping. Why does anyone want to bike going nowhere?! Well, obviously she does. Even though she says she doesn’t like it, it serves a purpose and it helps her breathe better so now I encourage it. Since she got home from the hospital, she is on that thing peddling away and huffing and puffing and turning all shades of red. I am frequently close to dialing 911 on her cell phone. But afterwards, she is calm and chill. Sometimes she gets on the floor and that is when I pounce but she shoos me away so she can do her core exercises or stretching. I know stretching is very important—they don’t call it downward dog for no reason, I do that stretch several times a day.

She had to go back to her vet, I mean doctor, many times that summer. We were hoping for an increase in her PFTs. At first, it was not moving up or down from her last one prior to antibodies. And then, it started to go up slightly—huzzahs all around. And then, it started to go down and she was getting short of breath again. What was happening??? Her doctor did another bronchoscopy and a fungus was among us! She was put on an antifungal medication and since then her PFTs have risen, including her volume, whatever that is. But she has been super busy on that stationary bike, still breathing hard but now I understand, she is doing it so she can spend more time with me and more time out of the hospital. 

It has been nine months since her treatment. It’s been a whirlwind. At her last clinic visit, her PFTs were the highest they’ve been in two years. I know she is trying hard to do whatever she can to never leave my side. She belongs at home. After the hospital, I know my mom was elated to see me and be home. But probably not as relieved and happy as me.

 

Andrea Eisenman is 59 and has CF. She recently realized that her initials are AGED: Andrea Gail Eisenman Downey (her husband’s surname)! She lives in New York, NY, with her husband Steve and dogs, Willie, Roscoe, and Trixie. Andrea is the Executive Editor for USACFA. She enjoys cooking new recipes, playing pickle ball, biking, tennis when possible, and staying active as her health allows. Her contact information is on page 2.

pets sp 24

Transplant Talk:
Keeping the thumb!

Hi again everyone! When I wrote my “Transplant Talk” article for the Winter 2024 issue of CF Roundtable, I talked about the skin cancer surgery I had on my thumb. I was going to the wound care center once a week to make sure I was progressing well. At one of these appointments, they suggested I would benefit from Hyperbaric Oxygen Therapy (HBOT), because I have a hard time healing due to my immunosuppression and my thumb had been radiated. HBOT is also used to treat bone and skin grafts that are infected, decompression sickness, arterial gas embolisms, brain abscesses, gangrene, sudden deafness and vision loss, burns, carbon monoxide poisoning, and severe anemia. Talk about a game changer! 

I will admit right now that I am claustrophobic. When I saw the HBOT chambers, I started to freak out just a bit. I knew nothing about HBOT. I thought just my thumb would be in a tube of 100% oxygen, but that’s not how it works, unfortunately for us claustrophobics. HBOT involves putting your entire body into an acrylic/clear tube where you are lying down, but propped up a bit at the head, and you breathe in 100% oxygen (normal air only has 21% oxygen). This oxygen circulates throughout the body, including to your wound(s), thereby helping with the healing process. The extra oxygen helps fight bacteria and triggers the release of growth factors and stem cells, which promote healing. Also, in a HBOT chamber, the pressure is increased two to three times higher than normal air pressure. Because of this, your lungs can gather much more oxygen than they could just breathing pure oxygen at normal air pressure.

The tube is pressurized in the first few minutes you are in the tube (my ears popped, like on an airplane), and depressurized in the last few minutes of therapy. Note that after therapy you are required to get your ears checked immediately for fluid or ear drum damage by the HBOT doctor. For me, pressurization and depressurization took about 10 minutes each and I never felt any pressure during pressurization. I never had any ear issues after my therapy. I was in the tube for a total of two hours per session, and I had sessions Monday through Friday for a month. I had to shower prior to every treatment, and I could not put on lotion, deodorant, makeup, my wig, and my glucose monitor. One nice thing about this is that once I showered I just got dressed and left which, as you can imagine, saves some precious time. I also had to change the type of dressings and tape I was using on my thumb. Basically, anything that can cause a fire cannot be in the tube with you. Other items you can’t have in there include newspaper, Kindles, books, dentures, hearing aids, cell phones, hand warmers, cigarettes of any kind, nail polish, lip balm, and velcro. You have to take off all of your clothes and change into a gown approved to be used in the chamber.

I am sure that my fellow claustrophobics out there are cringing right now. I have good news for you though. You get used to this very quickly. I was offered Xanax but I would have to stay the extra four to six hours after the therapy for it to wear off before I was allowed to drive home. No thank you! I just bit the bullet and did it. I was very surprised at my lack of panic when they put me into the chamber for the first time. Since you can see through the chamber, you can convince yourself you are not really in there. Plus, you have your own TV right in front of you outside the chamber with any and all channels/shows/streaming services you could want. I watched The Crown, which was excellent and kept my mind off of the fact that I was stuck in a tube for two hours. Other patients slept or meditated. One of the other patients asked to watch the news, which I personally thought was not a healthy choice, but to each his own. I was very surprised that I actually came to enjoy HBOT, and the HBOT staff told me that a lot of people have said the same thing. It was kind of nice to be away from the world for a while. You literally can do nothing in the chamber; no work, no catching up on emails, nothing like that, so you might as well enjoy it. The HBOT staff were terrific also, that really helped. They were super nice and understanding of people’s fears and/or confusion. They sat right outside of the chambers so if you needed them you just had to knock. There were four HBOT chambers in the room, and they all had names; the ones I used were “Nautilus” and “Jacques Cousteau.” Cute!

The wound management people declared me healed after my four weeks of HBOT. I was amazed at how good my thumb looked, and how quickly it healed. I could not even tell that there had been a (fake) skin graft put on it. Thumbs up to that!

 

Colleen Adamson is 55 and has CF. She is the Treasurer of USACFA, lives in Alexandria, VA, and is back to washing dishes. Her contact info is on page 2.

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Culinary Corner:
Sicilian Supper

By maggie williamson

This recipe is near and dear to my heart as I have been eating it since I can remember. Sicilian Supper was a recipe my grandmother found in one of those “share a recipe” cookbooks that was put together by mothers to raise funds for their kids’ school. My grandma made it for her family, my mom made it for us, and I continue to make it for me and my husband. I like to describe it as a deconstructed lasagne and it has no relation to Sicily whatsoever. Italians, please don’t come for me! This is American through and through! It is a comforting baked pasta dish that can be frozen in portions and reheated easily. 

Sicilian Supper

Yield: Serves 4

 

Ingredients:

• 2 tbsp olive oil

• 1 onion

• 1 lb ground beef 

• 1 small can or 4 tbsp tomato paste

• ¾ cup water

• 2 cups wide egg noodles

• 1 8-oz package of cream cheese

• ¾ cup milk (preferably whole milk)

• ½ cup parmesan cheese, grated (plus more for topping)

• 1-2 tsp garlic salt 

• Salt and pepper to taste

 

Preparation:

Step
1:

Pre-heat oven to 350 degrees. Add water to a medium-sized pot and bring it to a boil for the egg noodles. Dice the onion finely. Add two tbsp of olive oil to a skillet on medium heat. Add the onion to the skillet, cooking for five minutes or until the onion starts to turn translucent. Add the ground beef and cook until no longer pink, about 10 minutes. 

 

Step
2:

Drain the fat from the ground beef. Add the beef and onion mixture back into the skillet along with the tomato paste and water. Stir until it is well combined. Add salt and pepper to taste and keep on low heat.

 

Step
3:

Add the egg noodles to the boiling pot of water with one tbsp of salt. Cook the egg noodles per package directions for al dente. 

 

Step
4:

Add the cream cheese and milk to a microwaveable medium-sized mixing bowl. Put in microwave for 30 seconds to a minute until cream cheese is soft and you can easily whisk to combine milk and cream cheese into a sauce. Add the parmesan cheese and garlic salt. 

 

Step
5:

Once the pasta is cooked and drained, add the egg noodles to the cheese and milk mixture. Mix to combine. 

 

Step
6:

Take an 8”x8” baking dish, glass or metal, and start layering your beef and pasta mixture. Layer half the noodle mixture on the bottom of the baking dish. Add half the meat mixture and spread evenly over the noodles. Repeat the layer one more time for a total of two layers. Sprinkle some extra parmesan cheese on top and bake in the oven for 25 minutes. 

 

Step
7:

Once baked, take out of the oven and let it sit for five minutes before dishing up. Serve with a salad or any vegetables you like. Enjoy!

 

Maggie Williamson is 35 years old and has cystic fibrosis. She received a double lung transplant in 2014. She now lives in the U.K. with her British husband, Tom, and their Bengal cat, Charlie. You can find her and all of her cooking delights on Instagram @justasprig

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Piecing Life Together:
Skin Cancer—The Tale of a Suppressed Immune System 

In December of 2023, one year and four months after receiving both double-lung and kidney transplants, I was diagnosed with squamous cell carcinoma in situ. Squamous cell carcinoma is a type of skin cancer that commonly develops post-transplant due to the immune suppression medications transplant patients must take to protect against possible organ rejection. In my lung transplant education process, from the preparation phase through the recovery phase, it was impressed upon me that skin cancer was such a common experience that it was most likely not a question of if it would happen, with my pale skin and tendency to burn with even minor sun exposure, but when. So, I wasn’t entirely surprised to hear, at the end of November, as I sat in a beige exam room of my dermatologist’s office, the phrase, “I think it’s best to do a biopsy.” 

The spot that needed a biopsy was a scaly, red dot on my lower left shin, about four inches above the top of my foot. It had been there for years, even before my transplants, and I’d never thought much of it other than occasionally wondering where it came from as I rubbed lotion over it or dried my leg after a shower. It never itched; it never changed shape nor grew in size and so I gave it no more attention. What I did not know then was that any unexplained new mark on my skin should be considered suspicious. At my second skin check with the dermatologist, I pointed at it with seriousness and stated that the spot was most certainly getting bigger. And with her little single-eye magnifying glass hovering over my shin, my doctor agreed.

Part of my post-transplant care includes these regular dermatology visits, more specifically an exam known as a full body skin check. At my transplant center, if you have no history of prior skin cancer occurrences, these checkups are recommended annually. In a skin check, the doctor examines every inch of your skin for any suspicious marks, moles, or lesions: each limb is lifted, the hair on your head is parted, even the bottoms of your feet are inspected while you sit fully undressed in a paper-thin gown. If something appears suspicious, as in my case, a biopsy is performed and the small sample of tissue they remove is sent for pathology. After my five-minute skin scrape biopsy, they placed a bandage over the area and I went home to await the results.

About two weeks later, as I prepared dinner, my phone rang. I clicked the green accept button, and my heart sank a little hearing the voice of my doctor herself. If you have experience with awaiting test results, you might know that if a doctor personally delivers news, it may not be good. I took a deep breath, confirmed my date of birth, and tried to steel myself for more bad news. After she revealed my diagnosis, she quickly shifted into treatment and prognosis. As she spoke, the anxiety of accepting yet another new and potentially serious diagnosis began creeping to the forefront of my mind. I attempted to quell its presence, reminding myself I need to listen to what she’s telling me instead of listening to these thoughts spiraling into worst-case-scenarios, my brain’s go-to response when getting bad news.

It’s very easy for me, someone who for most of my life has only received bad news, to jump to the worst conclusions. Living through end stage respiratory disease, kidney failure, the continued denial for the life-saving transplants I needed for six years, and everything that happened in between those events has made anxiety, worry, and fear, as strange as it may sound, my comfort zone. Even with the healing and quality of life improvement my transplants brought, my old habit of expecting, fearing, and preparing for the worst remains, to this day, a hard one to break. What has become easier since gaining my health back in the last year and a half, is talking—or, more accurately, thinking—my way through it. And in that moment on the phone, despite the spike in anxiety, I knew I needed to pause and just listen. Thankfully, she’d just gotten to the good news: in situ, a term unfamiliar to me, meant this squamous cell carcinoma hadn’t grown deep into my tissue or spread from the visible area. In other words, it was most likely treatable. 

My two treatment options were a bit concerning to hear as well: topical chemotherapy or surgery. Chemo-therapy doesn’t really imply an easy or comfortable option, even if just in the topical form. And the thought of another surgery on the heels of the most challenging surgeries of my life was, to put it mildly, undesirable. Luckily, though, the surgery did sound comparatively mild, and my dermatologist thought topical chemotherapy wasn’t the best option for me. Given that the cancerous tissue was well-contained in one spot, I decided to go the surgery route. I was to see a surgeon who specializes in Mohs surgery, a procedure in which layers of cancerous tissue are removed and tested under a microscope one at a time until no more cancer is seen.

After the phone call with my dermatologist, I had to update my transplant team. I figured they had a regular protocol since they were so familiar with transplant patients developing skin cancer. At this point, my nurse coordinator agreed that Mohs surgery was the best option. This diagnosis, for now, wouldn’t mean any changes to my immune suppression medications, but if I were to face a second occurrence of skin cancer, that’s when my dosages would be lowered to allow my body a little bit of extra protection. The immune system is the first line of defense in preventing the development of cancer cells; however, mine was suppressed from the transplant drugs and I lacked that defense. In the meantime, I’d need to continue protecting my skin from the sun, follow up with my skin checks every six months going forward, switch to a high-risk dermatologist—an easy change as it would be in the same office—and continue monitoring my skin for any new concerning spots.

The last point she mentioned had me thinking: why had this spot, that appeared before my transplants and in an area hidden from sun, turned cancerous now? I wondered out loud if it could be that this spot had been pre-cancerous all along and my immune system pre-transplant had been doing its job the best it could to keep it from developing further. However, since my transplants, with my immune system greatly suppressed, did this give those cells the chance to mutate fully into carcinoma? Her answer was simple: likely, yes. With a suppressed immune system, this red mark on my skin probably became cancerous only recently.

Finally, on January 5, 2024, armed with all this information and a newfound confidence, it was time for Mohs surgery. The outpatient procedure lasted about five hours, and most of that time was spent waiting for test results. The lesion on my left shin was measured and then numbed with a lidocaine injection. Once I could no longer feel the prick of a needle, the doctor began to slice a layer of tissue off the affected area. I tried to watch—I’ve always been fascinated by the surgical procedures I endure—but as the doctor began to remove the skin with tweezers I had to look away. The wound was then cauterized lightly to prevent bleeding and that layer was taken to be tested. 

After about 45 minutes of waiting for the first layer’s test results, the surgeon returned to remove a second layer, one that was a little wider this time to capture the margins of the lesion as cancer was seen at the very edges. This time, with my eyes firmly on my book, the second layer was removed and tested with the result finally showing all cancerous tissue had been removed. I was officially cancer free. The last step was a nurse adding a compression bandage and explaining my care instructions. I was to leave the compression bandage on for 48 hours, and from there I’d wash it twice a day, slather it in petroleum jelly, and keep it covered, all of this until it was fully healed.

Today, three months later, it’s still healing. As I write this, my wound, while no longer the size of a quarter, is covered with Aquaphor and a non-stick pad. The Aquaphor keeps it moist and prevents it from scabbing over and healing like a “crater” in my leg, as my doctor put it. I wear a compression sock over it, a recommendation given at my two-week wound checkup, to keep at bay any swelling that may prolong healing. Skin cancer is a common experience among post-transplant patients, and I’m grateful mine was as mild as it was. As time goes on, I’ll likely face this hurdle again, and other than hoping for a similar prognosis, what I can do to prevent it is what we all can do: use a high Sun Protection Factor (SPF) sunscreen religiously and sun-protective clothing daily. It’s the “Mohs” vital step to prevent skin cancer (pun definitely intended).

 

Matison is 31 years old and has CF. She was born and raised in Alaska, and currently lives in San Francisco, where she received combined lung and kidney transplants in 2022. She’s on the CF Foundation’s Rose Up Committee; dedicates her time to advocating and spreading awareness for CF, organ donation, and kidney disease on her social media pages; and, in her spare time, she enjoys jigsaw puzzles. She can be contacted at mdeaton@usacfa.org, and found on TikTok @onebreathatatime_ and Instagram @matisondeaton.

chaptered lives:
The battle

My sister finally had her transplant. I had my own transplant in 2002. For me, having CF is like swimming in the ocean. Oftentimes, the waves are small and gentle, pushing you along in the current. However, there are those times when, seemingly out of nowhere, a hurricane blows in and destroys everything in its path. The waves are 30 feet high and any chance of a leisurely, comfortable existence is thrown into chaos. This is what happened in 2013. 

After Maura’s transplant, I moved out to Southern California. My girlfriend was living out there with her family and San Diego seemed like a nice place to start over. I was tired of traveling, tired of being in different countries and cities, and tired of the hassle of not knowing the language of the land I was living in and the customs that it followed. I have been in hospitals all over this world and there is nothing like the security of a hospital with a proper CF center and transplant team. However, since my transplant, I had been so healthy for over a decade that I nearly forgot the harsh realities of CF and its potential for utter destruction. I began to believe I was a “normal” person, with a “normal” body.  

After only a month of being in San Diego, I got sick. I was short of breath for the first time in ten years and could barely walk to the bathroom. Eating and drinking, taking a shower, even sleeping were as difficult as they were before my transplant. In hindsight, perhaps I was not able to let myself believe that I still could get that sick after having new lungs. 

On a Friday afternoon, I dragged myself into the University of California, San Diego (UCSD) emergency department. Within minutes I was seeing their transplant doctor. To this day, he was one of the brightest and caring physicians I had ever met. He was not much older than me but had that scary level of intelligence and I was immediately relieved to be there. Of course, nothing would prepare me for the events that transpired over the coming week. He wanted my entire medical history and was quickly on the phone with my team at Penn. However, they hadn’t seen me in quite some time and the situation was becoming more and more dire by the hour. 

In my life, there have been certain times where I was in trouble and, in those moments, for reasons entirely unknown to me, the exact right person or exact right remedy has taken place in the exact right way I needed it to. It’s almost as if some unsaid, unheard signal was thrown out into the universe – and the universe answered. This was one of those moments. 

Just as the transplant doctor was asking me questions about my CF in early childhood, my phone rang. On the line was my childhood physician and CF doctor from St. Christopher’s Hospital for Children, Dr. Daniel Schidlow. I hadn’t seen or spoken to him since our chance encounter five years earlier in Madrid, Spain. Yet here he was, calling in the most opportune moment. It was nothing short of miraculous. 

For the first time in 11 years I was now gravely sick and diagnosed with pneumonia; but, it didn’t end there. After a week in the hospital, I was only getting worse. Even with antibiotics, my body was refusing to heal. My girlfriend at the time was living in Palm Springs and immediately drove to San Diego with her sister when I called to tell her it was more serious than I thought. According to her, my mind wandered in and out of madness for the next week, a week of which I have no memory. I was hypoxic for most of that week and, at some point, my parents showed up in my hospital room. I was terribly confused by how quickly the sickness took over me. By the end of that week, things were critical. After a decade of being amazingly healthy, having a lung function of close to 100%, I was once again back in survival mode. 

The thing that struck me the most was how quickly my mind and body remembered what “survival mode” meant. It was like a switch flipped on my brain, telling myself that, once again, it’s game time. No time for tears, no time for fear. No time for sadness or pain. I was fighting in another death match where there was no room for anything other than living through the day and night. “Do not die today” and “do not die in your sleep” were the only thoughts in my mind and only action in my body. 

Eventually a decision was made to put me in a coma. I was lying in bed with my parents, girlfriend, and the doctor’s assistant in my room when, within moments, I couldn’t take another breath. Panic took over and I absolutely felt myself slipping away. I begged for relief. I begged to be put into the coma right then and there. The team scrambled as I was gasping for air. Within what felt like seconds, an endotracheal tube was inserted at my bedside and I was placed on a ventilator—a mechanical breathing machine would now do my breathing for me. Just like that, I was out of this world entirely. I was now unconscious, but the situation would become far worse before it got better.

I later learned that the first night a blood infection, sepsis, ravaged my body. By the second day, I developed acute respiratory distress syndrome (ARDS). On the outside, I only know what I was told afterwards. On the inside, something entirely different was happening. Something I never knew existed. Something I wish I still didn’t know existed.

A coma is a strange thing. I certainly do not recommend it. That said, what happened to me while I was in that coma was life changing. It is very difficult to describe these things. A near-death experience is simultaneously unique to everyone, and yet, certain aspects seem to be universal. What happened in that month is something I have ever only told a handful of people. Suffice it to say, I felt as if I was given a choice, a decision had to be made. How and why this happened is still unclear and probably always will be, but what happened is not. 

At some point, I was in a line of people. I could see all of their faces as clearly as I see this computer screen in front of me. In dreams, if you look at your hand, you don’t see the lines, the veins, the idiosyncrasies. This wasn’t that. I saw every detail of every face in front of me and behind me. The face of an old man in front of me will forever be an image in my mind. We were boarding some kind of vessel, the closest I can explain it would be similar to an airplane, but it wasn’t that. We sat in circles. Everyone was looking at each other, but no one was speaking. Not a word was said. There were looks of comfort, sadness, despair, and relief. A voice came over me, like a loudspeaker, like some final instructions—don’t look down. This was repeated over and over and over until everyone’s head seemed to understand and nod backwards, eyes closed. The walls of this chamber were like liquid metal; melding and moving and changing everywhere and always. 

And then there was a moment within that in-between world and it was clear to me that if I chose to leave, I could and if I chose to stay, I could as well. I stood up and walked out. I left that in-between place and a month later, I returned to this world. I woke up. I had no sense of time when I awoke. I knew who I was, but how long it had been and what happened on the outside was unknown to me. My muscles were so atrophied that I could not use my thumb to change the channel on the remote control. I was still intubated for the next week, which was extremely frustrating. There were questions of whether I would ever regain my previous strength, whether I would be able to walk again. I had to learn how to do each everyday things all over—eat, speak, walk, shower, use the bathroom—it was all challenging because it all felt new.

Ultimately, it took a year and a half to fully return to where my body was prior to that hospitalization. However, my lungs never fully recovered. I had lost roughly 40% of my lung function. I now had chronic pain, chronic shortness of breath, and perhaps worst of all, chronic anxiety of what would happen next. I was diagnosed with post-ICU post-traumatic stress disorder (PTSD), which in many ways, was far worse than the physical pain associated with recovery. This was the second time PTSD entered my life. First, immediately after my transplant and now, after this coma. 

Before getting sick in 2013, my anxiety had been virtually nonexistent. From 2006 until 2013, I had no reason for it. The current of life was calmly taking me along with it, peacefully and gently. Now, everything had changed. I was hyperaware and worried about when and where the next shoe would drop. 

That anxiety has stayed with me ever since. For me, this is one of the more sinister qualities of CF – that ability to not let myself put my guard down. The need to be on top of everything all the time. It is one thing to be diligent and aware but another thing entirely to be wired and worried of things yet to come. That struggle is one that many people with CF face—the battle to be cautious while still maintaining a healthy degree of ease and comfort. 

We have a saying in my family, “Don’t worry until you have to worry.” This has been a mantra of mine for many years. It has helped me during the trying times and allowed me to enjoy and thrive during the calmer days. Still, there is a part of me that always wonders when the next big infection, the next serious hospitalization, or the next “survival mode” will come. Since 2013, there have been two or three times when I’ve needed to flip that switch in my mind again and I’m certain that there will be additional times in the future. This is where the strength of the CF community is fundamental and essential. My family and friends, doctors, nurses, social workers, and everyone in the cystic fibrosis orbit plays a part in the physical and emotional well-being of all of us patients. It is a small, but fierce community; a joyous group of dedicated people who go into battle on a regular basis. 

As a child with CF, I never gave serious consideration to what it would actually mean to have a disease my whole life. I knew it was somehow important but I never imagined that it would be a defining characteristic. Of course, having a disease is just one part of who we are, but a substantial one nonetheless. And though it is often filled with uncertainty and pain, it also provides an enormous amount of strength and resilience. Like water on concrete, my CF has been involved in every aspect of my life, whether it be relationships, career, money, love, and even death. Having cystic fibrosis has given me a perspective on life that sometimes makes it difficult to relate to everyone else. For the longest time, I didn’t know if this was a good thing. One certainty that I have come to not only accept, but cherish, is the idea that nothing in this world is trivial. Nothing is trivial. Every smile and handshake, every I love you, every ounce of pain and every moment of joy, every delicious meal, every laugh, every great movie, and every hug and kiss. It all means something, even if we don’t realize it in the moment. One day, when we are facing the end, we can look back and smile at those precious moments and be grateful. This is what CF has given me. And, for that, I have come to understand its true potential and be grateful that I was born with this disease.

 

Andrew Corcoran is 43 years old and has CF. He received a lung transplant in 2002. He now lives in South Jersey with his family and friends. He is a writer. Andrew’s email is acorcoran@usacfa.org.

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ITS Ela

In the spotlight:
Ela castillo

Age: 30

Home:
Boston, MA

 

Readers, I’m excited to offer a deeper look into the life and work of one of our former board members, my dear friend Ela Castillo! Ela and I first connected because of our shared passion for disability justice and our experiences as ethnic minority patients in “the final 10%” with rare CFTR mutations. Since joining USACFA as a Director, Ela has led content translation and community outreach efforts for Spanish speakers and contributed consistently to accessibility improvements with our website and materials. We are tremendously lucky to have had Ela on the board and are looking forward more collaboration in the future!

 

What would you most like our readers to know about who you are and what makes you feel connected to others with CF? How has connecting with other disabled people with CF impacted you?

The thing that most connects me to other disabled people with CF is the sense of understanding. Whether we have similar or different experiences, we support each other first and foremost, through highs and lows and all the rest—and we’re still here. Our community understands those dynamics uniquely.

Can you tell us about your work in disability advocacy and accessibility education? How have your interactions with other disabled folks with CF shaped your work in these areas?

After working for a few years post-university graduation, I noticed a bunch of trends in my work life that some might frame as negative experiences—though they could also be learning experiences. These kept making me want to learn how to better navigate those situations and specifically things like how we disclose our CF at work and how we generally navigate disability related to it. I read things that were more like general advice about disability rather than something specific to CF. I had been involved in various disability organizations outside of the CF community and was finding the available resources were not applicable enough in a practical sense. So I started asking people with CF about their experiences. I found I wasn’t alone at all in my experiences with disclosing my CF and trying to maintain my health while working. I thought “there’s something here that’s not being fulfilled within the dialogue of being an adult with CF or being a disabled adult in general.” So I decided I needed to make some resources, then I decided to sell them to people and companies. Some companies were doing employee research networks—but these days they actually budget for it and take it seriously.

What do you feel proudest of in your work lately? Can you share some anecdotes about the impact you have been able to make with your consulting?

I’ve been in a bit of a transition. Utopia was not really the goal of a lot of these companies. I had to communicate pro-disability ideas in a way that was very capitalistic. I didn’t feel great about selling justice that way. Other disabled friends agreed outcomes mattered most, but it was still draining to work that way. Now I’m moving into broader projects. Instead of playing whack-a-mole with how individual companies can become more accessible, I’m trying to impact accessibility design on a larger scale. It would be easier to make things like Zoom more accessible across the board, for example. Deaf advocates have focused on improving captioning because everyone should have access to the information. It’s very bottom-line—and of course we know people in the CF community want this. Whether we’re vesting during our treatments or have hearing loss from Tobi or unrelated factors, everybody should have access to materials. Same thing for visual accessibility, neurodiverse accessibility, and everything else.

 

Tell us more about your own journey with CF. Besides lung issues, what are your biggest challenges? What is your unique presentation of the disease like?

My physician would say I mostly fall under the category of “mild” CF symptoms. As a baby I had respiratory problems and low weight; that’s how I got diagnosed. I had a PICC line when I was 15 but one time it fell out. Then I wasn’t believed about it falling out—I told a nurse something felt cold and then hot, and then it burned and felt painful. She said “no way”—but we did an X-ray, which showed the line was 9 centimeters out. I just said “Hop off my team. This bus is only for people who believe me.” Having milder symptoms is also really tied up in ableism and the idea of being a “good” disabled person in terms of what you can do, like athletics. That’s always been a challenge in CF care. Sometimes people don’t realize folks with rare mutations or mild symptoms can still have unmet needs and be disabled.

What were your experiences with transitional care like during your teen years? What did you struggle with most making the switch to adult care? What went well during that time?

I wasn’t very compliant with treatments, especially in my teen years. I hated doing my vest every day—I still hate doing it. I think there was a lot of identity wrapped up in those things, too. If your PFTs are good, people think you are good. If they dip, that makes people think badly of you. I always used to have an FEV1 above 100%. When it started going lower, it was hard to deal with—because I was always “the good one” to my providers. I wasn’t a gifted child in any other respect, like academically, but I had that. I was rewarded for being a “good” CF patient. There was so much anxiety and pressure around that number and what it meant. I’m not blaming anyone specifically for that; it’s just how things were back then. I didn’t have any model for how it could be reframed at all. 

How does being from Latin and Jewish cultural backgrounds shape your experiences in the CF community as a whole? What makes community activities welcoming and affirming for you?

Sometimes being mixed can create internal conflict but there’s beauty as well, and things that are heightened because of those influences—whether it’s food or music or anything else. I feel enriched in my experience of the world. That includes feeling mixed in terms of hearing and Deaf identity too. Currently I’m identifying as Hard of Hearing. I’ve been closer to Deaf when I was younger; I’ve been more hearing before as well. It’s similar to my experience being mixed ethnically—like the best of both worlds. In the CF community, I do feel isolated still because of my rare mutations. Sometimes I feel left out or forgotten but adults with CF are passionate about supporting each other and continually remind the community of the importance of inclusion. Especially as people talk about returning to “normal” we’re here to advocate for hybrid events and meaningful virtual participation options that offer a comparable experience.

What helps you cope with your CF? Are there any community resources you've found helpful in living with CF—like websites, newsletters, apps, social media groups?

Learning American Sign Language has been like breathing air. I walked into it hardly knowing anything save some alphabet stuff and words I’d picked up here and there. I didn’t know much about grammatical systems or other nuances. I also didn’t know any of the pillars of Deaf culture—the mythologies, the best practices, the shared understanding. I didn’t know any of it—and walking into it just felt like coming home.

What accessibility resources are you most excited about right now? What are the most helpful technologies you have been exploring since the start of the COVID-19 pandemic and how have they impacted your work?

I love to be the person who talks about how much they love captioning and translation. The Cystic Fibrosis Research Institute does amazing captions with Worldly AI, for example. And software like CQ Fluency opens up content for people who speak different languages without putting unrealistic expectations on people. That’s what disability utopia looks like to me. It’s not always easy to get access to all the resources we need as people with CF—or even know where to look. A huge problem in the CF community is that a lot of people assume that you already know about things. But I know so many things now because I’ve had to go searching for them; I’ve had to become the expert. I initially started following CF research simply for self-preservation—to know what clinical trials and innovative therapies are available to me, which is especially important as someone with rare mutations and other coexisting conditions. I wish I could have “accessibility bingo” where my multiple conditions and disabilities can all be accommodated. Some things overlap and go really well together—for example, epilepsy and CF both require high-fat diets oftentimes. And being a CF patient and Hard of Hearing, having captions is a huge win—a lot of us have hearing loss from things like harsh antibiotics or sinus infections. However, I’m struggling more to find that equilibrium with my epilepsy; a lot of resources for Deaf and Hard of Hearing folks are incompatible. Everything flashes! When things flash I don’t have bad photosensitivity, but I do lose my balance. How do you find that happy medium when not all of your disabilities get along with each other? That’s something I’m still navigating.

What are your hopes for the future—in your work and otherwise? What do you look forward to most these days?

I hope that the work I do will help everybody become better and do better—that everybody will rise up together—whether it’s disability specific or CF-community specific. By creating a more accessible world, and then a more inclusive world—an intersectionally inclusive world—everybody wins. I don’t know if my criticism comes across too harshly sometimes. I’m not neurotypical enough to know if that’s happening! But I do give a lot of feedback and continue to show up uninvited to get feedback, because I love the community. I don’t do it out of malice or anything like that. If I’m making a criticism or a complaint on something that is not working so well, I hope to give glowing feedback once the issue is fixed.

Do you have a funny CF story you'd feel comfortable sharing? Is there an experience you look back on now that makes you laugh?

This is so not a “top five” CF issue, but I have these two toes that swell up and turn purple. It’s probably related in some way—a lot of us have vascular problems—but nobody can figure out how! And I’ve had to explain all this to several different types of providers with limited accommodations to help me communicate. When I go to clinic people want my oxygen levels of my PFTs and I’m trying desperately to talk about this toe thing. When it gets bad I can’t fit my foot in shoes anymore—and this is Boston, and it’s winter! I can’t wear boots, so I can’t walk anywhere; I can barely walk inside my house on it. I went to urgent care and they were trying to run all these totally useless tests. I’m amazed they didn’t try to give me a pregnancy test! Meanwhile, I could hardly understand anything folks were saying because there was just no accessibility, and nobody was making the effort to communicate with me. Then this one guy did but he kept yelling at me so my captioning device couldn’t process what he was saying. I kept telling him “please just talk normally” while this other doctor was explaining why it was okay for people to treat me like crap. Finally, I just went home and followed up with my primary care doctor. Eventually I had an MRI on the toes—but we still don’t know why they’re turning purple, swelling up, and losing feeling.

Living with CF constantly requires us to change our plans and accept difficult things. What would a perfect day look like for you? Where would you go and what would you do?

It’s not about waiting to be cured. It’s not about waiting for anything like hearing aids. I know better devices are out there somewhere—and at the beginning of the pandemic, I was hung up on hearing aids. I really thought that was like my cure. I thought I’d save up enough money—or maybe somebody would help me pay—and I’d be ready to go. If there’s ever something appropriate out there, I might still go for it. But the question for me now is “What do I want to get out of the hearing aids? How am I moving towards my own personal utopia?” Lately I’ve tried to ask all the households that I’m living in or connected to the same question. How do we move towards our own utopia? How do we reduce friction in getting there? Our journey doesn’t have to be monumental—we’re not like Rocky climbing the steps. But it does require being intentional—for us to seek our own utopia individually and collaboratively.

 

If you would like to be interviewed for “In The Spotlight,” please contact either Xan Nowakowski or Andrea Eisenman. Their contact information is on page 2.

salty sp24

salty parenting:
born in salt

When I was born, I laid in my mothers warm embrace

until a doctor noticed something wasn’t quite right

A curse, became folklore

“Woe to the child who tastes salty from a kiss on the brow, for he is cursed and soon will die.”

My parents told I had Cystic Fibrosis

Wave after wave of doctors

Fear crashed over them

Inhale

Exhale

Normal Breathing

Deep breath

Faster Faster

Exhaling my version of a whale spray

Hours of treatments.

Too many pills to swallow

enzymes sprinkled like sand atop my food

Yet

Pushed toward learning and growing

So much joy and laughter

-

I’d wake as if pulled from the ocean

Coughing sea spray 

Flipped around to different positions like a small boat in the middle of the sea

Waves beating the sides 

Loosening mucus from my lungs 

-

In a household rooted in purpose

With fundraising leaflets

And events where I glimpsed sunlight shimmering through the saltwater 

I was at risk of sharing germs

“Not too close”, my mother warned. “Flowers need space between them to help them grow.”

But I choose connection over caution

and stole a hug or two

I leaned into the light

I spoke at those splashy events 

Shared my hopeful truth

Until those waves crashed over me

Seeing facts I hadn’t known

Hope was not my truth 

Seeing the darkness in the ocean

I stopped planning for the sun

And the ocean’s rip current pulled me under

Salt and sand heavy in my lungs

Friends gone out to sea and not returned

I am next, I am sure

And when I visit the doctor

I’m still in that boat, spinning on the sea

Inhale 

Exhale 

Normal Breathing

Deep breath

Faster Faster

Exhaling my version of a whale spray

-

It was a delicate balance to stay rooted

Surrounded by rocky seas 

Where I knew others had been lost

That fear was always there

Yet

My body ages to match my soul

Living in the moment, yet planning for an uncertain future

The ocean receded and my roots grew, stabilizing me 

When our eyes met, I knew

Yet I held my breath as I told him

Waiting for the tide to rush back in and knock me over

He just held out a hand and offered me the sun-

Jumping into the ocean

Where the waves toss us

The salt stinging our eyes

Yet, we swim together

Holding each other up through any storm

Our love and hope evergreen

 

Katherine Lockwood is 35 years old and has CF. She lives on Cape Cod with her husband Arden and her girls, Rose and Magnolia. She is a therapist for Verge Therapy and focuses on supporting individuals and couples experiencing disability in the family. She is the author of Why Me, Mama?, an award-winning children’s book about the disability experience. She is currently working on two picture book projects: Salt & Roses— supporting families when a parent has cystic fibrosis—and OUCH! OOPS! & OH NO!, a set of three books to support pre-k to third graders in reducing bullying. You can follow Katie’s picture book projects at acorncottagepress.com and on Instagram @acorn_cottage_press.

Jimison

Cystic Fibrosis Prepared Me
For This Next Battle

I was 33 years old when I was diagnosed with small bowel cancer. I had gone through the ups and downs of cystic fibrosis my whole life but I never imagined I would be diagnosed with cancer. I didn’t know many people with both CF and cancer (post-transplant cancer was a different story) and to me it was one of those things that just didn’t happen or was the “ultimate crappy card” on top of already having cystic fibrosis. 

Getting this diagnosis was hard—I was pregnant at the time the pain started so I just thought maybe it was an issue related to that but after the pain persisted post pregnancy, I knew it was something else. I told my CF team about my symptoms: constipation, diarrhea, pain that ranged from an 8 to a 10 on the pain scale, and my bowel movements were different as well. My dietitian and I just chalked it up to CF—I already had DIOS (Distal Intestinal Obstruction Syndrome) and a lot of my symptoms were so similar except for the pain. I had never experienced such severe pain so I went to the CF clinic’s GI doctor and from there I had a CT scan, endoscopy, and colonoscopy. Boy was I glad we went that route! Having cystic fibrosis made it hard to get answers because just about everything that was happening was “normal CF” in my case. I had constipation, diarrhea, pain from time to time, but the truly telling signs didn’t happen until a few months before I received the official diagnosis.

Months after seeking answers we found out via my colonoscopy results (I had two separate colonoscopies) that I had small bowel cancer. 

I was scared, upset, numb, and overall shocked. I thought I was already up against a tough battle as it is; how could I possibly handle any more? 

I was sent to a GI oncologist where we discussed surgery and chemotherapy and ultimately decided on a small bowel resection first followed by chemotherapy. I was diagnosed with stage IIIA small bowel cancer, which had possibly been growing for close to ten years based on the size of my adenocarcinoma.

Having cystic fibrosis along with small bowel cancer was hard emotionally; however, it was only after I was nearly finished with chemo that I realized how strong I was and how I just stuffed down my emotions. I went through cancer with “grace,” with a tough face, and with a “this is just another thing to deal with” attitude. I truly believe my life with cystic fibrosis was the reason why I fought hard and didn’t let it get to me too often. When I did let it get to me, my emotions overwhelmed me: I cried hard, I begged for others to truly understand how hard this was to manage on top of CF and how unbelievably complicated everything in my life is with both diagnoses. I don’t understand the ‘why me’ mentality but I do understand that I am thankful I had already grappled with my mortality before Trikafta was even an option for people with CF. I feel like CF prepared me for this in ways that (and I cannot believe I am saying this) made me thankful for it. The hardest part of having cancer on top of cystic fibrosis was the recurrent infections and their toll on my body. I got sick frequently and when I did it was far worse than any sickness I had experienced in the last few years. I got COVID-19 for the first time (not just once, but twice) during chemotherapy, along with recurrent lung infections, colds and a bout of pneumonia. Surprisingly, my weight remained semi stable and only fluctuated up and down five pounds during the two-week course leading up to my next chemo treatment. I truly believe Trikafta and CF allowed me to tolerate the harsh chemicals going into my body. I ached, I couldn’t sleep, I had no appetite one day and then was ravenous the next. I couldn’t tolerate cold drinks or touching anything cold for a couple days at first and then for the first ten days the further along I got in the 12 rounds of chemo I completed. I started to realize how similar the side effects of CF were to those of cancer: the longer I was on chemo (just as with antibiotic use) the worse the side effects were and the harder it was to tolerate them. I knew that I had to endure this though. 

Fast forward to December 2023 and my diagnosis changed from stage IIIA to stage IV because it metastasized to my ovary. As of January 2024, I had surgery to remove the metastases to my ovaries with the recommendation of another round of chemo afterwards. My oncologist called me a couple weeks after the surgery and said we no longer needed to do chemotherapy as my Signatera blood tests were negative (meaning no signs of cancer). I know there is a chance for recurrence or metastasis again but I am hopeful just as I am now with CF because of drug advancement. For other CF patients who may have to go through cancer, regardless of whether it is similar to mine, know that you are not alone. You will have good and bad days as we have had all our lives, and there is a massive support system within the cancer community, and some within the CF community. I am with you on this and with you through this because we all need someone who is like us to help make it easier. I want you to also know you are allowed to feel confused, upset, questioning and so many more emotions. Because of cystic fibrosis, I am and will always be a fighter.

 

Tamara Jimison is 35 years old and has cystic fibrosis and Stage IV small bowel cancer. She lives in Washington State with her husband John and two children, Julian (8) and Audrey (2). She loves reading, writing, crafting, music, drawing and creating yummy meals for her family. Tamara loves being a mom more than anything. You can contact her at tamarakayroth@yahoo.com.

Payne

My Mission Is To
Try And Save You

Did you know people living with cystic fibrosis (CF) are five to ten times more likely to get colon cancer and if you have had a transplant, you are 20 times more likely? Also, CF carriers also have an elevated risk of colon cancer. Yeah, neither did I until I was diagnosed with stage IV colon cancer at age 34. That’s one of the reasons I have been trying to raise awareness for earlier screening. I want to make sure people have the knowledge about their elevated risk. 

I was diagnosed with stage IV colon kancer (I spell it with a “k” to take away some of its power) in July of 2021. I had just started experiencing the positive impact of Trikafta and I was feeling better than ever. My journey to a stage IV diagnosis doesn’t even involve a diagnostic colonoscopy. 

I had developed a dime size mass in my groin in the summer of 2021. I had shown it to a few doctors and no one could really figure out what it was. At the same time, no one seemed very alarmed either. Around the same time I also developed some strange digestive symptoms that mimicked CF digestive symptoms. I alerted my CF team and they ordered some x-rays and a gallon or two of Golytely. In the meantime, the mass had become the size of a golf ball and I knew I couldn’t wait the two weeks to get the scheduled CAT scan. I needed help and I needed it now. My CF doctor sent me to the ER to get the CAT scan and I’m so grateful he did. I spent four days inpatient waiting for a diagnosis and/or a biopsy of the mass. Before the biopsy was performed a team of doctors came in and told me they believed that the mass was malignant, and that my life was about to get harder. 

The biopsy came back a week or so later, which was the longest week of my life and it confirmed all of my worst fears—it was colon kancer, it was likely stage IV, and it was aggressive. My CF doctor had already called the oncologist about my case when he delivered the news to me. This helped me get an appointment as soon as possible. I remember crying—ugly crying—for almost two hours straight while yelling this was not fair. I was supposed to get a break; TriKafta was supposed to give me a break. 

Currently, the standard recommendation for people with CF is to undergo their first colonoscopy at age 40 to screen for colon cancer. I couldn’t help but feel like this outcome could have easily been avoided with earlier colon cancer screening. I was only 34 when I was diagnosed with colon cancer (I’m 37 now). I would have never made it to 40 despite having had no family history or genetic markers to point to colon cancer.

It’s frustrating that colon cancer is one of the most preventable cancers if caught early enough. If you catch it too late it transforms into the second most deadly cancer. It doesn’t help that colon cancer hides in the shadows. It typically manifests as a silent cancer with few or no symptoms. If a person with CF does have symptoms, they often mimic the symptoms of CF. The unfortunate truth is that it is nearly impossible to detect colon cancer in someone with CF without screening. How many people are walking around with colon cancer right now and don’t know it? That’s my concern; that’s what drives me to share my story in the hope that maybe one less person has to hear the words “you have stage IV colon kancer.” 

My story shows that too many people are going to fall through the cracks. I wish I could claim to be a rare exception, but both data and evidence tell me I’m far from alone. A recent publication from the American Cancer Society stated that colon cancer is the number one cancer killer for men ages 20-49 and the number two cancer killer for women. By 2030, colon cancer will be the number one cancer killer for people under 50. As CF patients we are at an elevated risk: five to ten times higher than the standard risk for those of us who haven’t had transplants and 20 times higher if you have had a transplant.

I had to re-learn how to live my life with kancer and still manage my CF. I still work full time and I still undergo chemotherapy every two weeks. I’m not complaining; this is just how it is and will be until science and medicine find something better. 

I couldn’t save myself but I’m hoping I can save you—a colonoscopy is annoying but I can assure you it’s worth it. If I had a DeLorean to go back in time I would in a heartbeat. I would have asked to get a colonoscopy in my early 20’s just to confirm that my digestive issues were due to CF, not cancer. I can’t do that but maybe you can. The colon kancer lived inside me silently for years without me knowing it. A polyp can take ten years to develop into cancer. I unknowingly got married with kancer, got divorced with kancer, and ran for office with kancer. 

Next time you go to the doctor, I’m urging you to ask for a colon cancer screening. If something feels off don’t write it off or ignore it. I know, I know, it’s not particularly fair to put that additional burden on CF patients, but it’s the only option we have. We have to be our own fierce advocates until the screening age is lowered. Your doctor might push back, but don’t take no for an answer! CF doctors and care centers use the guidance set by medical experts and regulatory agencies to determine when to screen CF patients for colon cancer. And, even with these guidelines, not all CF doctors are aware of the well-known elevated risk of gastrointestinal cancers among their patients. Early screening could mean early detection of an otherwise hidden cancer. Early detection means potentially finding cancer in earlier stages, which dramatically increases the possibility of effective treatments or even cures. Treatments and cures mean saving lives, lives that matter. Lives like mine. 

I’m not advocating for myself. I’m hoping to save you. Please help me honor those who are no longer with us by educating those who are. 

 

Anna is 37 years young and has CF. She resides in Langhorne, PA. She enjoys time with her beloved dog Roman and works full time for Bucks County Commissioner, Diane Marseglia, while also being an elected Middletown Township Supervisor. She is also the Vice Chair for the PA Rare Disease Advisory Council and helped co-found the Bucks County Cystic Fibrosis Alliance. You can follow her on Twitter @AnnaPayne4PA or on instagram @apayne226. You can also email her directly at apayne226@gmail.com.

Having Cancer With CF
And Transplant…
And Its Repercussions

Eisenman

It used to be, back in the 1950s, the word cancer was whispered or not even said at all, but rather called the “C-word” or the “Big C.” Most likely it was not spoken of because by the time a person was diagnosed with it, it had progressed too far and they had mere months to live. It was just too scary to say out loud. 

Treatments and screenings were not what they are today. Nowadays, having a diagnosis of cancer can be something a person can live with, like a chronic condition, or at least choose a plethora of treatment options that are not as full-body decimating as classic chemotherapy. With newer personalized treatments available people are able to take drugs that target just the cancer with less collateral damage to other cells and/or organs.

Before I received my lung transplant in April 2000, I read other people’s stories about their lives after transplant. One thing stood out in all those stories—for many, a few years after transplant the prevalence of cancer and sadly, death. At the time, I didn’t understand the connection between the lack of a strong immune system to fight off unwanted cells or invading viruses and cancer cells having an open invitation to invade the recipient. Some cancers are more opportunistic in CF and transplanted people—colon, skin, and surprisingly, lymphoma.

A person can live the healthiest of lifestyles—at least I thought I did—and still get cancer. When I was diagnosed with post-transplant lymphoproliferative disorder (PTLD) in October 2017, I was extremely angry. I spent so much time doing what I thought were the right things—eating right, exercising, sleeping enough, etc. However, when a stressful situation presents itself and knocks one flat on their back, an opportunistic virus can run amok in an immune-suppressed body. For me this was the Epstein Barr virus (EBV), which my donor most likely had and I did not. Learning about this was a several month-long journey when I was just starting to get my bearings after my mom passed away.

Most people with CF, at least those of my age, who grew up relying on their parents for many things such as emotional support and help with treatments, had an incredibly close relationship and bond to one, if not both parents. I was fortunate to have this with my mom, who not only helped me when I was sick as a child, she also took care of me while I waited for a lung transplant when I was unable to cook, clean, or do much of anything for myself. She did this selflessly as she always did when I needed help. So, as she was aging and needed my help, I stayed with her and took care of her. I dreaded the day she might not be around. We had a symbiotic relationship that may not have been the healthiest but we knew how to care for one another.

When my mom’s health took a turn for the worse and when she subsequently died at the end of May 2017, I was devastated by this loss. During the five weeks she was in and out of the hospital and then finally in hospice, I was stressed far beyond anything I can remember. I cried a lot and felt helpless in getting my mom the best care. Trying to be at the hospital, do my treatments before and after, get to the gym, and take care of my dogs all took a toll on my health. 

Immediately after her memorial, I was treated for a sinus infection for which I did IV antibiotics for about six weeks in July and August. During that time, I started noticing bumps protruding from my body. First was in my groin, then on my upper left chest and then one on my back. The three separate bumps were looked at by different specialists but no one connected the dots (bumps) until I was on the IV antibiotics that summer via a peripherally inserted central catheter (PICC) line and I felt I had a blood clot. My transplant nurse told me to go to an ER and it was there that I had an upper chest sonogram that confirmed a clot around the PICC line. The ER also ordered a chest CT with contrast. It wasn’t until several months after that, in October, that the radiologist reviewing the CT scan from the ER called my transplant doctor and told her that they saw lesions all throughout my trunk—the bumps were protruding lymph nodes. Aha! I was sent for another CT with contrast that confirmed the lesions were not only still there but they had also grown in size. During this time, I was blissfully ignorant about what all this testing was for—I was just relieved my sinus infection was over and I no longer had the PICC line in. I remained incredibly sad about my mom and had a hard time remembering the fun times we shared. The last five weeks of her life were tortuous and those memories were crowding out the good times and laughs we had.

Once my transplant doctor knew these lesions were present, I was ordered to do more labs. This was all before MyChart or EPIC so I had no idea what my results were or why they were testing my EBV levels. The levels must have been high because I was told to get a surgical biopsy of my lymph nodes as they were enlarged and a needle biopsy would not be sufficient for testing for cancer. It was then that I found out what they were looking for—lymphoma. At first, it was difficult for me to find a surgeon who could do the biopsy but once I did, the results confirmed my transplant doctor’s fear of PTLD, where the immune-suppressed transplant recipient can be more susceptible to the donor’s EBV. This usually happens immediately after transplant, not 17 years later, as I was at the time. I had also experienced extreme fatigue and was not sure if it was from depression surrounding my mom’s death or that I just needed to sleep and nap a lot every day.

Finding out I had this cancer upset me tremendously. I was in shock and, initially, lost my drive to fight it. But my transplant doctor said that we did have to treat it. I wanted none of what I knew about getting cancer treatments: the long days in a hospital getting infusions, losing one’s hair, vomiting, injections for white blood cells or red blood cells, and so on.

Thankfully, my transplant team sent me to a world-renowned oncologist who was brought to NY Presbyterian Hospital specifically for this type of cancer. Even though it is rare, this cancer requires an experienced physician who is also familiar with transplant patients and their unique needs. By November 2017, it was decided I would get a port in my chest for an IV medication called Rituximab, which is used for B-cell lymphoma and other diseases. With this drug, there was no hair loss, like with some chemotherapy treatments, but shortness of breath was an issue when it was administered weekly. 

As treatments grew farther apart, my shortness of breath reduced and I felt less fatigue. I was back to a somewhat normal life and after two and a half years, I was considered to be in remission. I received my last Rituximab treatment in December 2019. I was in remission for two years until April 2021. I had a feeling it had returned because I felt that incredible fatigue again. I was not surprised that my EBV level was rising and my PET scan confirmed it was baaa-ack! Since I could not be treated with Rituximab again, I had to meet with a new oncology team doing clinical trials on treating EBV in post-transplanted people. When they decided to take me on as a patient, they congratulated me on having several rare diseases all at the same time—CF, lung transplant, and PTLD. Thankfully this oncology team existed! And they had a sense of humor.

Under their care, I was to be given donor cells from people who had EBV and their own body had successfully fought off the virus. Ostensibly, these donor cells would kill off the EBV in my body. The treatment length would depend on how my body responded. I went through six rounds, lasting about eight months in total, with a PICC line, because they could not use my port for the cells. For my sixth treatment, I was told that even though the treatment had worked on the cancer, some of it was still present in a lymph node in my right axilla and I would have to stop receiving the donor cells. Since the remaining cancer was localized, it was suggested I start radiation for eradicating it completely. Yet another oncologist, three in total—a regular one, a clinical trial, and then a radiation oncologist. Thankfully, they were all lovely and eager to see me get well.

Radiation was hard in that it was every day for a month and even though I joked that NY Presbyterian is my second home I started to feel as though it was my first! I did get the “sunburn” affect after a week and had to apply petroleum jelly twice daily to keep from scarring. I was also warned by the radiation oncologist that the radiation could scar my lungs (since it was in my arm pit) and, in possibly 10-15 years, could cause cancer. Let’s just deal with today folks, I do not expect to be kicking around that long!

When I finished with radiation I exuberantly rang the bell in the waiting room for those who are done being treated in a way to exclaim, I made it! And I am sure it gives others hope that they will ring that bell one day too. However, I felt I was not done; maybe for now, but when will it come back?

As of March 2024, I am in remission. For how long, I am uncertain. I still see my regular oncology team every four months. I get lab work for EBV levels every two months and hope that even if the levels are high one month, they reduce the next. Any treatments I receive are weighed with what they will do to my EBV levels. Like being on steroids or having an infection, both will send the level much higher. As my dog Trixie shares on page 10, when I was treated with Thymoglobulin (antibodies) for rejection, my levels were stratospheric but expected to be such. They were almost so high, my doctor and I laughed about it after the fact. But the fear remains and the EBV is most likely here to stay in my body. I just hope that it will remain dormant. I am still tired a lot and that worries me as the extreme fatigue can be a sign that PTLD has returned. I remain grateful to be alive, but with cancer, I feel the specter of its possibility always lurking. I am careful not to get too stressed out, keep exercising, practice mindfulness, eat a healthy diet, and be grateful for what I have today. And I am.

 

Andrea Eisenman is 59 and has CF. She recently realized that her initials are AGED: Andrea Gail Eisenman Downey (her husband’s surname)! She lives in New York, NY, with her husband Steve and dogs, Willie, Roscoe, and Trixie. Andrea is the Executive Editor for USACFA. She enjoys cooking new recipes, playing pickle ball, biking, tennis when possible, and staying active as her health allows. Her contact information is on page 2.

Scholarships USACFA

Scholarships
Offered By USACFA

USACFA proudly offers four different scholarships! You may apply for more than one scholarship each year, but you may only be awarded one per academic year. If you do not win, your application can be moved to the pool of applicants for another relevant scholarship in the same cycle. For questions about future scholarships or anything related to the application process, please contact us at scholarships@usacfa.org.

Scholarship for the Arts (Deadline: 05/30/24):

This scholarship will award two deserving students $5,000 each toward their tuition in their respective field of the arts: fine arts, computer graphics, design, music, choral, photography, filmmaking, creative writing, poetry, dance, and theater arts, to name a few. It is open to anyone seeking a creative arts degree, from an associate’s to a doctorate.

The Scholarship for the Arts was established by Andrea Eisenman to honor her mother, Helen Eisenman. Helen was a single mother devoted to her daughter, Andrea, who has cystic fibrosis. 

Higher Education Scholarship (Deadline: 06/30/24):

The Higher Education Scholarship was set up by Nancy Wech, in memory of her daughter, Lauren Melissa Kelly. The academic scholarships of up to $2,500 are awarded to two adults with cystic fibrosis who are pursuing career certifications, associate’s, bachelor’s, and graduate degrees. 

Any student seeking a degree in higher education, from associate’s to doctorate, is welcome to apply. We look for students who demonstrate tremendous academic achievement, community involvement, and a powerful understanding of how their CF—matched with these achievements—places them in a unique situation to gain leadership roles within the community. 

The Stenzel Scholarship (Deadline: 03/30/25):

The Ana and Isa Stenzel Scholarship may be awarded once annually to a person with cystic fibrosis who is, during the period for which the scholarship award is paid, enrolled in a course of higher education leading to a degree granted by an institution in the United States in either health science, social work, mental health science, genetic counseling, or environmental science.

The Stenzel Scholarship was established in 2023 in memory of two amazing women with CF, Isa Stenzel-Byrnes and Ana Stenzel. Isa was a licensed social worker and had a Master’s of Public Health. She imparted her wisdom to CF Roundtable readers for 17 years in her CF Roundtable column, Spirit Medicine. Ana Stenzel was Isa’s twin sister. Ana was a genetic counselor at Stanford hospital for 16 years. Isa and Ana dedicated their lives to helping others. They provided education, hope and comfort to thousands of people throughout their lives. They showed the world that people with CF could find meaning in their lives by making a difference in the lives of others. 

William Coon Jr. Scholarship (Deadline: 04/30/25):

Any student seeking a degree in any of the following is welcome to apply: business, economics, communications, political science, information, project management, finance, accounting, public administration, or marketing. We believe that any higher education is a strong foundation for advocacy and involvement in the CF community. 

William J. Coon, Jr. established $20,000.00 in scholarship funds to be awarded in $2,500.00 scholarships for four students each year over a period of five years, totaling 20 scholarships. Mr. Coon was both a cystic fibrosis patient and a businessman who valued the importance of education and “paying it forward.”

Are you interested in establishing a memorial scholarship honoring a loved one from the CF community who has passed away? Please reach out to us at scholarships@usacfa.org to learn more. A member of our Scholarships Committee will follow up with you promptly!

research roundup

research round sp24

Identification Of Prognostic Biomarkers For Antibiotic Associated Nephrotoxicity In Cystic Fibrosis.

The objective of this study was to discover novel urinary biomarkers of antibiotic-associated nephrotoxicity using an ex-vivo human microphysiological system (MPS) and to translate these findings to a prospectively enrolled cystic fibrosis (CF) population receiving aminoglycosides and/or polymyxin E (colistin) for a pulmonary exacerbation. Polymyxin E treatment resulted in a statistically significant increase in the pro-apoptotic Fas gene relative to control in RNAseq of MPS. Effluent analysis demonstrated an acute rise of soluble Fas (sFas) concentrations that correlated with cellular injury. In 16 patients with CF, urinary sFas concentrations were significantly elevated during antibiotic treatment, regardless of development of AKI. Over a median of three years of follow up, we identified seven cases of incident chronic kidney disease (CKD). Urinary sFas concentrations during antibiotic treatment were significantly associated with subsequent development of incident CKD. Using an ex-vivo MPS, a novel biomarker of proximal tubule epithelial cell injury was identified, and translated these findings to a clinical cohort of patients with CF.

https://tinyurl.com/mr3kh5c3

 

The Lived Experience Of African American Persons With Cystic Fibrosis.

Cystic fibrosis (CF) is a rare genetic disease affecting approximately 30,000 people in the United States (US). African American persons with CF are even rarer, comprising approximately 5% of this population. The purpose of this study was to explore the lived experiences of African American persons with CF to identify potential disparities in health care. Descriptive phenomenology was used to explore lived experiences of African American persons with CF over age 18 recruited from CF Foundation-accredited Centers in the US, CF-specific social media, and via snowball sampling. Study data was obtained through telephone interviews that were audio-recorded, transcribed verbatim, and analyzed using Colaizzi’s method of thematic analysis. Results: Six men and six women (ages 23–45) completed the study. Interviews revealed three themes: (1) Accepting a Diagnosis of CF; (2) Desiring a Normal Life while Living with an Invisible Disease; and 3) A Slippery Slope of Subtle Racism. Each theme had 2–3 subthemes. In conclusion it is critical to explore the unique challenges faced by African American persons with CF in order to develop interventions that improve their daily lives and create better futures. 

https://tinyurl.com/4pnjdsvr

 

Home-Spirometry Exacerbation Profiles In Children With Cystic Fibrosis.

Pulmonary exacerbations (PEx) are strong predictors of respiratory disease progression in children with cystic fibrosis (CwCF) and may be associated with persistent decreased lung function after acute management. Telemonitoring devices can be used for early detection and monitoring of PEx, but its utility is debated. Researchers asked, “Which symptoms and telemonitoring spirometry characterics are related to outcome dynamics following initial PEx management?” This retrospective study included CwCF followed at Bordeaux University Hospital, France. All severe PEx episodes treated with intravenous (IV) antibiotics (ATB) between 1 January 2017 and 31 December 2021 in CwCF using home telemonitoring were analyzed. Symptoms and home spirometry data were collected 45 days before and up to 60 days after each IV ATB course. We defined three response profiles based on terciles of baseline forced expiratory volume in 1 s (FEV1) recovery. A total of 346 IV ATB courses for PEx were administered to 65 CwCF during the study period. The drop in FEV1 became significant 8 days before IV ATB initiation. Forty-one percent of IV ATB courses failed to restore baseline FEV1. The magnitude of FEV1 drop and a greater delay in the initiation of treatment correlated with a low response level. On the 14th day of the IV treatment, a FEV1 recovery less than 94% of baseline was associated with a nonresponder profile.Home spirometry may facilitate the early recognition of PEx to implement earlier interventions. This study also provides an outcome lung function threshold which identifies low responders to IV ATB.

https://tinyurl.com/4ernvp5x

 

Computational Analysis Of Long-Range Allosteric Communications In CFTR.

CFTR functions as an anion channel, the gating of which is controlled by long-range allosteric communications. Allostery also has direct bearings on CF treatment: the most effective CFTR drugs modulate its activity allosterically. Researchers integrated Gaussian network model, transfer entropy, and anisotropic normal mode-Langevin dynamics and investigated the allosteric communications network of CFTR. The results are in remarkable agreement with experimental observations and mutational analysis and provide extensive novel insight. They identified residues that serve as pivotal allosteric sources and transducers, many of which correspond to disease-causing mutations. They found that in the ATP-free form, dynamic fluctuations of the residues that comprise the ATP-binding sites facilitate the initial binding of the nucleotide. Subsequent binding of ATP then brings to the fore and focuses on dynamic fluctuations that were present in a latent and diffuse form in the absence of ATP. They demonstrated that drugs that potentiate CFTR’s conductance do so not by directly acting on the gating residues, but rather by mimicking the allosteric signal sent by the ATP-binding sites. They also uncovered a previously undiscovered allosteric ‘hotspot’ located proximal to the docking site of the phosphorylated regulatory (R) domain, thereby establishing a molecular foundation for its phosphorylation-dependent excitatory role. This study unveils the molecular underpinnings of allosteric connectivity within CFTR and highlights a novel allosteric ‘hotspot’ that could serve as a promising target for the development of novel therapeutic interventions.

https://tinyurl.com/5n7r3pmf

 

Long-Term Evaluation Of Fecal Calprotectin Levels In A European Cohort Of Children With Cystic Fibrosis.

Intestinal inflammation with contradictory data on fecal calprotectin (fCP) levels is documented in patients with cystic fibrosis (CF). The aim of this study was to longitudinally evaluate fCP in a cohort of children with CF and their relationship with clinical variables. Prospective observational study to assess evolution of fCP levels, primarily aimed at improving fat absorption. Along 1.5 years of follow-up (November 2016–May 2018) with four study visits pertaining to a pilot study (two of four) and to a clinical trial (two of four), the study outcomes were measured. This study included children with CF and pancreatic insufficiency (2–18 years old). Main outcome measurements are fCP levels, pulmonary function and coefficient of fat absorption (CFA). Additionally, in the last two visits, gastrointestinal (GI) symptoms were evaluated through the PedsQL-GI Questionnaire. Linear mixed regression models were applied to assess association between fCP and FEV1, CFA and GI symptoms. Twenty-nine children with CF and pancreatic insufficiency were included. fCP levels were inversely associated with total modified specific PedsQL-GI score and positively associated with diarrhea, but not with CFA. Along the four study visits, fCP significantly increased and pulmonary function decreased, with a significant inverse association between the two study outcomes. In conclusion, in children with CF, fCP levels are inversely associated with pulmonary function and thus the specificity of fCP as a marker of intestinal inflammation in pediatric patients with CF warrants further investigation.

https://tinyurl.com/2b285kdf

 

Plasma Levels Of Chemokines Decrease During Elexacaftor/Tezacaftor/Ivacaftor Therapy In Adults With Cystic Fibrosis.

CF is associated with dysregulated immune responses, exaggerated inflammation and chronic infection. CF transmembrane conductance regulator (CFTR) modulator therapies directly target the underlying protein defects and resulted in significant clinical benefits for people with CF (pwCF). This study analyzed the effects of triple CFTR modulator therapy elexacaftor/tezacaftor/ivacaftor (ETI) on CF-associated inflammation, especially systemic chemokines. A bead-based immunoassay was used to quantify proinflammatory chemokines in plasma samples from pwCF collected before, at three, and at six months after starting ETI therapy. Fifty-one pwCF were included. At baseline, 67 % were already receiving CFTR modulator therapy with tezacaftor/ivacaftor or lumacaftor/ivacaftor. After initiation of ETI therapy there was a significant improvement in percent predicted forced expiratory volume in 1 s and a significant decrease in sweat chloride levels. After 6 months’ treatment with ETI therapy there were significant decreases in plasma levels of MIP-3α, GROα, ENA-78 and I-TAC. IL-8 exhibited a reduction that did not reach statistical significance; levels of other assessed cytokines did not change significantly from baseline. In conclusion, ETI appears to affect a distinct group of chemokines that are predominantly associated with neutrophilic inflammation, demonstrating the anti-inflammatory properties of ETI therapy.

https://tinyurl.com/yxc2hs53

 

Dual Species Sphingosine-1-Phosphate Lyase Inhibitors To Combine Antifungal And Anti-Inflammatory Activities In Cystic Fibrosis: A Feasibility Study.

CF is an autosomal recessive disorder characterized by respiratory failure due to a vicious cycle of defective CFTR function, chronic inflammation and recurrent bacterial and fungal infections. Although the recent introduction of CFTR correctors/potentiators has revolutionized the clinical management of CF patients, resurgence of inflammation and persistence of pathogens still pose a major concern and should be targeted contextually. On the background of a network-based selectivity that allows to target the same enzyme in the host and microbes with different outcomes, researchers focused on sphingosine-1-phosphate (S1P) lyase (SPL) of the sphingolipid metabolism as a potential candidate to uniquely induce anti-inflammatory and antifungal activities in CF. As a feasibility study, they show that interfering with S1P metabolism improved the immune response in a murine model of CF with aspergillosis while preventing germination of Aspergillus fumigatus conidia. In addition, in an early drug discovery process, we purified human and A. fumigatus SPL, characterized their biochemical and structural properties, and performed an in silico screening to identify potential dual species SPL inhibitors. They identified two hits behaving as competitive inhibitors of pathogen and host SPL, thus paving the way for hit-to-lead and translational studies for the development of drug candidates capable of restraining fungal growth and increasing antifungal resistance.

https://tinyurl.com/436xkbnn

 

Inhaled Aztreonam Lysine In The Management Of Pseudomonas Aeruginosa In Patients With Cystic Fibrosis: Real-Life Effectiveness.

Inhaled antibiotics have achieved or stabilized the clinical condition of patients with CF and chronic Pseudomonas aeruginosa infection. In this study, researchers aimed to determine the effectiveness of aztreonam lysine inhaled solution (AZLI) in patients with CF and chronic P. aeruginosa infection. A retrospective observational study was conducted on patients with CF and chronic P. aeruginosa infection who received AZLI between July 2012 and September 2018 inclusive in three Spanish hospitals in a routine clinical practice setting. The primary endpoint was the absolute change in the percentage of predicted forced expiratory volume in 1 second (FEV1) compared with the previous 12 months, at the start of AZLI treatment and 12 months after starting the drug. Other variables analyzed were exacerbations, hospitalisations, type and route of antibiotics prescribed, weight and BMI and adverse drug reactions. In a cohort of 52 patients, AZLI treatment led to stabilization of FEV1, changing from a mean value of 55.60 (21.3)% at the start of treatment to 56.8 (20.4)% after 12 months of treatment in patients who had not previously received the drug. In addition, it significantly reduced exacerbations from a median of 2.0 in the 12 months prior to AZLI to 1.0 in the 12 months after treatment initiation. AZLI also reduced the need for other antibiotics and prevented a decrease in BMI, with an adequate safety profile. In conclusion, AZLI achieved stabilization of lung function measured by FEV1 in patients with CF and chronic P. aeruginosa infection, along with an adequate safety profile.

https://tinyurl.com/2s3hz7vb

 

Social-Environmental Phenotypes Of Rapid Cystic Fibrosis Lung Disease Progression In Adolescents And Young Adults Living In The United States.

CF is a genetic disease but is greatly impacted by non-genetic (social/environmental and stochastic) influences. Some people with CF experience rapid decline, a precipitous drop in lung function relative to patient- and/or center-level norms. Those who experience rapid decline in early adulthood, compared to adolescence, typically exhibit less severe clinical disease but greater loss of lung function. The extent to which timing and degree of rapid decline are informed by social and environmental determinants of health (geomarkers) is unknown. A longitudinal cohort study was performed (24,228 patients, aged 6–21 years) using the U.S. CF Foundation Patient Registry. Geomarkers at the ZIP Code Tabulation Area level measured air pollution/respiratory hazards, greenspace, crime, and socioeconomic deprivation. A composite score quantifying social-environmental adversity was created and used in covariate-adjusted functional principal component analysis, which was applied to cluster longitudinal lung function trajectories. Social-environmental phenotyping yielded three primary phenotypes that corresponded to early, middle, and late timing of peak decline in lung function over age. Geographic differences were related to distinct cultural and socioeconomic regions. Extent of peak decline, estimated as forced expiratory volume in 1 s of % predicted/year, ranged from 2.8 to 4.1 % predicted/year depending on social-environmental adversity. Middle decliners with increased social-environmental adversity experienced rapid decline 14.2 months earlier than their counterparts with lower social-environmental adversity, while timing was similar within other phenotypes. Early and middle decliners experienced mortality peaks during early adolescence and adulthood, respectively. While early decliners had the most severe CF lung disease, middle and late decliners lost more lung function. Higher social-environmental adversity associated with increased risk of rapid decline and mortality during young adulthood among middle decliners. This sub-phenotype may benefit from enhanced lung-function monitoring and personalized secondary environmental health interventions to mitigate chemical and non-chemical stressors.

https://tinyurl.com/k7rdw5h8

 

Diminished Airway Host Innate Response In People With Cystic Fibrosis Who Experience Frequent Pulmonary Exacerbations.

Pulmonary exacerbations (PEx) are clinically impactful events that accelerate CF lung disease progression. The pathophysiological mechanisms underlying an increased frequency of PEx have not been explored. The objectives were to compare host immune response during intravenous antibiotic treatment of PEx in people with CF who have a history of frequent versus infrequent exacerbations. Adults with CF were recruited at onset of antibiotic treatment of a PEx and were categorized as infrequent or frequent exacerbators based on their PEx frequency in the previous 12 months. Clinical parameters, sputum bacterial load and sputum inflammatory markers were measured on day 0, day 5 and at the end of treatment. Shotgun proteomic analysis was performed on sputum using liquid chromatography-mass spectrometry. Many sputum proteins were differentially enriched between infrequent and frequent exacerbators. The majority of these proteins had a higher abundance in infrequent exacerbators and were secreted innate host defense proteins with antimicrobial, antiprotease and immunomodulatory functions. Several differentially enriched proteins were validated by ELISA and Western blot including SLPI, lipocalin-1 and cystatin SA. Sputum from frequent exacerbators demonstrated potent ability to cleave exogenous recombinant SLPI in an NE-dependent manner. Frequent exacerbators had increased sputum inflammatory markers and total bacterial load compared to infrequent exacerbators.In conclusion diminished innate host protein defense may play a role in the pathophysiological mechanisms of frequent CF PEx. Frequent exacerbators may benefit from therapies targeting this dysregulated host immune response.

https://tinyurl.com/mr2e9h8

 

Frequency Of Obstructive Sleep Apnea In Patients With Cystic Fibrosis And Non-Cystic Fibrosis Bronchiectasis And Its Association With Clinical Findings.

This study was designed to assess obstructive sleep apnea (OSA) in adult patients with cystic fibrosis (CF) and non-CF bronchiectasis (BE) and to relate it with clinical characteristics.

In this study thirty-five CF and 35 non-CF BE patients were included. Demographic characteristics, medications, comorbidities, BMI, dyspnea scales, pulmonary functions, sputum cultures, exacerbations, and hospitalizations were recorded. The Epworth Sleepiness Scale (ESS) questionnaire was filled and polysomnography was performed for each patient. ESS scores did not show any significant difference between CF and non-CF BE patients. Thirty-seven (53%) of all patients had OSA. There was no significant difference in OSA risk between CF and non-CF BE patients (54% vs 51%, respectively). Male gender was found to be a risk factor for OSA (68% of males vs 41% of females, respectively). Total sleep time, sleep efficiency, sleep latency, time spent awake after falling asleep, oxygen desaturation index, apnea-hypopnea-index (AHI), AHI in the supine position, and rapid eye movement phase did not show any significant difference between CF and non-CF patients. CF patients had significantly lower mean oxygen saturation and lowest oxygen saturation levels and higher heart rate compared to non-CF BE patients. Multiple logistic regression analysis of all patients revealed male gender and disease duration as risk factors for OSA. In conclusion, it is remarkable that more than half of the patients in both CF and non-CF bronchiectasis groups had OSA. Male gender and disease duration were found as risk factors for OSA.

https://tinyurl.com/bhcdc6fb

 

Association Between Sputum Culture Results And Pulmonary Changes In Children With Cystic Fibrosis.

Despite the significant improvement in the prognosis of CF, it is still regarded as the most common life-shortening genetic disease in Caucasian populations. This disease is the most important cause of chronic lung disease and exocrine pancreatic insufficiency in infancy and childhood. The aim of this study was to assess the potential association between bacterial colonization detected by sputum cultures and pulmonary structural and functional changes in Iranian children with CF. In this cross-sectional study, 76 CF children ≥6 years old registered in the CF Foundation of Children’s Medical Center Hospital, Tehran, Iran, who underwent high resolution CT scan (HRCT), pulmonary function test, and sputum cultures within a month of each other during the study period were included. For each patient, demographic characteristics (age and sex), results of sputum cultures, FEV1, and chest HRCT findings based on the Bhalla scoring system were recorded in a check list. Sixty seven percent of the patients had positive sputum cultures. Based on categorization of Bhalla scores, none of the patients had severe pulmonary involvement. FEV1 was mainly >70%. There was a statistically significant correlation between colonization with mucoid and lower Bhalla scores in children aged 14-16 years. Colonization with mucoid was also significantly associated with the patient’s age and FEV-1. Severity of lung involvement in CF children is clearly dependent on mucoid colonization in airways and this notorious bacterium is the most prevalent one in Iranian CF children. Prompt identification and eradication by proper nebulized and systemic antibiotics can have valueless effects on patients’ quality of life and prevent lifelong destructive complications such as bronchiectasis. Timely lung CT scan wisely advised by expert CF treatment team can meticulously detect injuries and it seems to act more efficacious than -still helpful-clinical scores and pulmonary function tests.

https://tinyurl.com/ycy5nsay

 

Longitudinal Microbial And Molecular Dynamics In The Cystic Fibrosis Lung After Elexacaftor–Tezacaftor–Ivacaftor Therapy.

CF is a genetic disorder causing poor mucociliary clearance in the airways and subsequent respiratory infection. The recently approved triple therapy Elexacaftor–Tezacaftor–Ivacaftor (ETI) has significantly improved lung function and decreased airway infection in persons with CF. This improvement has been shown to occur rapidly, within the first few weeks of treatment. The effects of longer term ETI therapy on lung infection dynamics, however, remain mostly unknown. Here, these researchers applied 16S rRNA gene amplicon sequencing, untargeted metabolomics, and neutral models to high-resolution, longitudinally collected sputum samples from pwCF on ETI therapy (162 samples, 7 patients) and compared to similarly collected data set from pwCF not taking ETI (630 samples, 9 patients). Because ETI reduces sputum production, samples were collected in freezers provided in the subject’s homes at least 3 months after first taking ETI, with those on ETI collecting a sample approximately weekly. The lung function of those in our longitudinal cohort significantly improved after ETI, indicating our study cohort was responsive to ETI. The daily variation of alpha- and beta-diversity of both the microbiome and metabolome was higher for those on ETI, reflecting a more dynamic microbial community and chemical environment during treatment. Four of the seven subjects on ETI were persistently infected with Pseudomonas or Burkholderia in their sputum throughout the sampling period while the total bacterial load significantly decreased with time in only one subject. The microbiome and metabolome dynamics on ETI were personalized, where some subjects had a progressive change with time on therapy, whereas others had no association with time on treatment. To further classify the augmented variance of the CF microbiome under therapy, researchers fit the microbiome data to a Hubbell neutral dynamics model in a patient-stratified manner and found that the subjects on ETI had better fit to a neutral model. This study shows that the longitudinal microbiology and chemistry in airway secretions from subjects on ETI has become more dynamic and neutral and that after the initial improvement in lung function, many are still persistently infected with CF pathogens.

https://tinyurl.com/256bf9pm

 

Reprogramming The Cells Secretory Machinery: A Cystic Fibrosis Rescue.

CF is attributed to mutation in the CF Transmembrane Conductance Regulator (CFTR) gene that codes for a chloride transporting channel at the cell plasma membrane. More than 2,000 mutations in the CF gene have been identified; however, the ∆F508 CFTR is the most common, accounting for approximately 70% of all CFTR mutations. Earlier studies demonstrate the CFTR protein to be among the nearly 30 proteins constituting the porosome secretory machinery at the plasma membrane in human airway epithelial mucous-secreting cells. Additionally, recent studies show that stimulated human airway epithelial cells pre-exposed to CFTR inhibitors result in loss of mucus secretion, suggesting the involvement of CFTR in porosome-mediated mucus secretion. To further test the hypothesis that CFTR is involved in porosome-mediated mucus secretion in the human airways, and to develop a therapeutic approach to overcome this defect in ∆F508 CFTR human bronchial epithelial cells, the current study was undertaken. Mass spectrometry and Western Blot analysis of porosomes isolated from WT-CFTR Human Bronchial Epithelial (HBE) Cells and ∆F508-CFTR CF HBE cells, demonstrate a varying loss or gain of several porosome proteins, including a decrease in the t-SNARE protein SNAP-23 and undetectable levels of the Ras GTPase activating like-protein IQGAP1 in the ∆F508-CFTR CF cells. This suggested that mutation in porosome-associated CFTR protein additionally affects other proteins within the porosome secretory machinery, negatively impacting mucus secretion. To ameliorate defects in mucus secretion in CF, the reconstitution of functional porosomes obtained from WT-CFTR HBE cells into the plasma membrane of ∆F508-CFTR mutant cells was performed. Results from the study demonstrate that porosome reconstitution rescues mucus secretion approximately four-fold more effectively than the currently available CF drugs Tezacaftor and Ivacaftor.

https://tinyurl.com/2ht5cdaj

 

A Cross-Sectional Study Of Pediatric Feeding Disorder In Children With Cystic Fibrosis.

The exact prevalence of feeding problems in children with CF is unknown. Pediatric feeding disorder (PFD) encompasses poor oral intake with associated medical, nutrition, psychosocial, or feeding skill dysfunction. In this study, researchers hypothesized that PFD is common in CF and aimed to categorize feeding dysfunction across various domains in children with CF. An observational cross-sectional study was conducted in children with CF. Data collected included anthropometrics, nutrition data (including need for tube feeding/enteral nutrition [EN] or high-energy beverages, dietary diversity), feeding skills (Pediatric version of the Eating Assessment tool [pEAT]), and psychosocial function (About Your Child’s Eating questionnaire [AYCE] in children 2–17 years of age/Behavioral Pediatric Feeding Assessment Scale [BPFAS] in children 12–23 months of age). PFD was defined as poor oral intake with: (a) pEAT score > 5; and/or (b) AYCE or BPFAS score > 2 standard deviation of normative controls; and/or (c) nutrition dysfunction (body mass index/weight-for-length z score < −1 and/or preference of oral high energy beverages or dependence on EN and/or decreased dietary diversity). Results showed that of 103 children in the study, 62 had PFD, 7 children were malnourished, 10 needed EN, and 30 needed oral high-energy beverages. Dietary diversity was decreased in 42 children, 1 child had feeding skill dysfunction, and 11 met criteria for psychosocial dysfunction. In conclusion almost 2/3rd of children with CF have PFD and many have poor dietary diversity. A significant percentage of children rely on EN and oral supplements, but psychosocial dysfunction is less prevalent.

https://tinyurl.com/53jjry2n

 

Treatment With Macrolide Antibiotics (Including Azithromycin) For People With Cystic Fibrosis.

People with CF are more prone to chest infections caused by bacteria that can be hard to treat.

Macrolide antibiotics (such as azithromycin and clarithromycin) may lessen the effects of bacteria. One macrolide antibiotic, azithromycin, can improve lung function at six months compared to a placebo (treatment with no active ingredient) and may reduce the risk of getting a flare-up of lung infection. It is not sure whether a higher dose of azithromycin is any better than a lower dose, or if azithromycin when inhaled is any better than azithromycin when swallowed (oral). Oral azithromycin once a week compared to every day probably leads to less of an improvement in lung function, but there is probably a longer time to a flare-up in the weekly group. Current evidence does not support longer-term use of azithromycin for all people with CF.

https://tinyurl.com/3j9tp5yf

 

Aimee Lecointre is 38 and has CF. She lives in Salt Lake City, UT. She loves reading, cooking, writing, and spending time with her husband.

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