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Home Spirometers: A Useful Tool in Tracking CF Symptoms and Progress

Guest Blog By: Meranda Honaker

Over the last several months my health has continued to decline despite being compliant and diligent with my healthcare routine. In July I developed a fever during a trip to Boston to speak to a biotech company about my journey with cystic fibrosis. I developed a fever and by the end of my visit, I was unable to walk up steps without severe dyspnea. I was so exhausted from feeling sick I would return to my hotel room to lay in the bed for hours to rest. My chest pain and shortness of breath became so severe in the coming days that I could no longer take a deep breath. I checked my SpiroPd home spirometer which displayed a definite decline in my lung function. I immediately contacted my CF clinic to see my CF doctor. Initially, despite feeling bad, I assumed I was feeling poorly and decided not to rush to CF clinic. Sometimes I have a bad day or few bad days health wise and begin to improve on my own. Once I saw my lung function had declined I knew I needed to be seen in CF clinic rather than waiting it out.
Continue reading Home Spirometers: A Useful Tool in Tracking CF Symptoms and Progress

Tips For Never Missing Your Meds

In this Cystic Fibrosis Wind Sprint, Jerry Cahill talks about the importance of never missing your medication, especially post-transplant. To help him keep track of his meds, Jerry keeps color coordinated pill cases in his car with extra doses of medications in case he ever forgets to take them. He also keeps extra dosages in his backpack, which he carries with him everywhere, for the same reason.

The video wind sprint was made possible through an unrestricted education grant from Genentech to the Boomer Esiason Foundation.

Newly Discovered CF Mutations Could Be Why Some People with CF are Living Longer

Researchers hypothesize that the newly-discovered mutations help re-hydrate the airways, discouraging bacterial build-up in the lungs.

Despite a narrow average lifespan, there is a big range in how severely cystic fibrosis (CF) affects the lungs and other organs depending on an individual’s specific genetic variation, and even in how long patients sharing the same, most common genetic mutation are able to survive with CF.

This led researchers at Boston Children’s Hospital to wonder if other genetic mutations could be protective against CF’s effects. Recent findings published in the American Journal of Respiratory Cell and Molecular Biology suggest that may be the case.

“There are some patients at one end of extreme severity who need a lung transplant very early in life, then others whose clinical presentation seems to stabilize so that they can live into the fifth and sixth decades of life,” says Pankaj Agrawal, MBBS, MMSc, principal investigator and medical director of The Manton Center’s Gene Discovery Core at Boston Children’s, who was the co-first author on the study.

To find out why, Agrawal and researchers at Boston Children’s — including Ruobing Wang, MD, a pulmonologist, and Craig Gerard, MD, PhD, chief of the Division of Respiratory Diseases — conducted the first-ever longitudinal analysis of genetic modifiers related to CF.

They combed through a population of nearly 600 CF patients registered at the Boston Children’s Cystic Fibrosis Center and found five individuals who stood out because of their advanced age — in their 50s or 60s — and relatively normal lung function.

“Given the large size of our center’s patient population, we were able to find a number of individuals at this rare ‘extreme,'” says Wang, who was co-first author on the paper.

A new hypothesis for mitigating cystic fibrosis

To discover the genetic variants, the researchers collected blood from these patients and performed whole exome sequencing on their DNA, analyzing the “coding” section of the genome that is responsible for most disease-related mutations.

Sequencing the genes of these five Boston Children’s patients — a cohort known as “long-term non-progressors” — the researchers found a set of rare and never-before-discovered genetic variants that might help explain their longevity and stable lung function.

The gene variants are related to so-called epithelial sodium channels (ENaCs), semi-permeable cellular pathways responsible for reabsorbing sodium in the kidney, colon, lung and sweat glands.

“Our hypothesis is that these ENaC mutations help to rehydrate the airways of CF patients, making it less likely for detrimental bacteria to take up residence in the lungs,” says Wang.

The discovery brings ENaCs into the limelight as a potential new therapeutic target.

“For example, if we could target ENaCs with a small molecule or an antibody-based drug, we might be able to incur a protective effect against CF’s progression,” says Agrawal, who is also a physician in the Boston Children’s Division of Newborn Medicine.

Based on their findings, the team is now doing further studies to analyze the genetics of patients at the other end of the CF spectrum — those with extremely severe clinical presentation of symptoms at a young age.

Story Source:

Boston Children’s Hospital. “Some people with cystic fibrosis might live longer because of genetic mutations: Researchers hypothesize that the newly-discovered mutations help re-hydrate the airways, discouraging bacterial build-up in the lungs.” ScienceDaily. ScienceDaily, 25 October 2017. <https://www.sciencedaily.com/releases/2017/10/171025150620.htm>.

Materials provided by Boston Children’s HospitalNote: Content may be edited for style and length.

Positive Results for Phase 3 Studies of the Tezacaftor/Ivacaftor Combination Treatment

Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) announced that the New England Journal of Medicine (NEJM) published two articles with results from two Phase 3 studies of the tezacaftor/ivacaftor combination treatment, a medicine in development that is designed to treat the underlying cause of cystic fibrosis (CF) in people ages 12 and older who have certain mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Continue reading Positive Results for Phase 3 Studies of the Tezacaftor/Ivacaftor Combination Treatment

Upcoming deadline for USACFA Scholarship!

We are extending the Spring 2018 deadline until November 15, 2017!

The United States Adult Cystic Fibrosis Association (“USACFA”) offers the Lauren Melissa Kelly Scholarship award each semester, in honor of Lauren Melissa Kelly. The scholarships of up to $2500 are awarded to adults with cystic fibrosis who are pursuing career certifications, associates, and bachelor and graduate degrees.

Please find scholarship criteria and requirements on our website and direct any questions to scholarships@usacfa.org.

http://www.cfroundtable.com/announcements/united-states-adult-cystic-fibrosis-association-scholarship/

A fall 2017 scholarship recipient, Elizabeth Shea, has shared with us how her college experience has been shaped by having CF and all that she has been able to accomplish through the help of our scholarship and her dedication to hard work and passion in performing music.  In her own words:

As a winner of the USACFA scholarship for the fall semester of 2017, I am fortunate to have the opportunity to share some of my experiences as a college student with CF.  I thought it might be helpful to kids who are applying to colleges now, or those who are in college deciding on a major, to hear a little about what I’ve done and why.

First I should say I am now a junior at Stetson University.  I play flute and I am a double major: music education and music performance.  I added the second major at the end of my sophomore year.  I also joined the music sorority Sigma Alpha Iota in my sophomore year.  Both decisions have had a big impact on my life at college.

Music education was my original major, and believe me, it kept me very busy.  Between classes, private lessons, multiple ensemble rehearsals, mandatory recital attendance, private practice, classroom observations and studying, sometimes I hardly have time for lunch.  But, I knew that if I added a performance major, my playing ability would be seen as more competitive down the road when I’m applying to graduate school, or even in competing for a teaching job.  So, I went for it.

My decision to join a sorority was also significant.  Not only am I a member, I am now the treasurer of our chapter.  With weekly chapter meetings, events, executive board meetings, financial reports, banking, etc. I’ve had to dedicate a decent amount of time to SAI.  But the payoff has been great.  The sorority gives me an awesome group of close friends who all share my love of music.  I’m able to socialize with them and not just spend time in classes, performing and studying with them.  I’m also getting some valuable experience being in a leadership role with responsibilities that are new to me.

So, as you can imagine, I’m really, really busy this year.  I’ve had to be very careful to keep up with my medical treatments so that I can stay healthy.  Bottom line is, don’t assume that because of CF you have to limit yourself or skip things.  I might have to work a little harder to keep up with everything that I’ve added this year, but I am enjoying all the new challenges.  Of course, this year is also harder because I’m a junior performance major and so I am expected to perform at a higher level.  No pressure, right?  But I think I’m up for it.  Just try things and see what you can do.  You can always cut back if you end up overwhelmed, but if you don’t try, you will never know if you could have done it!

 

New drug for the treatment of exocrine pancreatic insufficiency

http://markets.businessinsider.com/news/stocks/AzurRx-BioPharma-and-Mayoly-Spindler-Announce-MS1819-SD-Investigational-Medicinal-Product-Dossier-IMPD-Submission-1005030890

AzurRx BioPharma and Mayoly Spindler Announce MS1819-SD Investigational Medicinal Product Dossier (IMPD) Submission

AzurRx BioPharma Inc. (NASDAQ:AZRX) (“AzurRx” or the Continue reading New drug for the treatment of exocrine pancreatic insufficiency

Live Stream the North American CF Conference Tomorrow for Free!

The North American CF Conference (NACFC) provides a collaborative and educational forum for all CF professionals. The educational elements of the meeting program are targeted to physicians, nurses, research scientists, respiratory therapists, physical therapists, nutritionists, social workers, and pharmacists. Continue reading Live Stream the North American CF Conference Tomorrow for Free!

Strangers Help Give Woman in Need of 2nd Double Lung Transplant Her Dream Wedding

“We’ve kind of realized that if we wait it might not happen,” she said.

Caleigh Haber has been dreaming of her wedding day for as long as she can remember, but she never realized it would come like this.

The 27-year-old, who has cystic fibrosis and is currently in need of her second double lung transplant, is about to marry the love of her life, Bryan Takayama. It’s an exciting celebration with a somber undertone.

Continue reading Strangers Help Give Woman in Need of 2nd Double Lung Transplant Her Dream Wedding

Phase 1a study for drug to treat CF regardless of CF Mutation

http://www.businesswire.com/news/home/20171018005403/en/Synspira-Announces-Patient-Dosed-Phase-1a-Study

Synspira Announces First Patient Dosed in Phase 1a Study of SNSP113 in Cystic Fibrosis
— First-in-class drug candidate for treatment of cystic fibrosis regardless of genetic mutation — Continue reading Phase 1a study for drug to treat CF regardless of CF Mutation

PBS’s Documentary ‘The Gene Doctors’ Arrives Amid A Gene Therapy Boom

Molly Troxel, who has an inherited degenerative eye disease, regained some vision after being treated with Spark’s experimental gene therapy, Luxturna. (Photo courtesy of PBS.)

This month, PBS is airing a documentary called The Gene Doctors that spotlights several emerging gene therapies, Continue reading PBS’s Documentary ‘The Gene Doctors’ Arrives Amid A Gene Therapy Boom