By Amy Gutierrez
When my husband and I got married 2 years ago, we both weren’t sure if we wanted kids. We were both 36 at the time, never married before, and knew of course time wasn’t on our side regarding this decision.
I have heard many stories over the years of parents with CF having children with CF, almost all unintentionally. While everyone has the right to their own choices, for our family, that’s definitely a risk we would want to minimize as much as possible. CF is a lot of work and can be extremely difficult, and the thought of having to also care for a child with CF in addition to tending to my CF is overwhelming. Of course, any child can be born with a myriad of health challenges and we can’t screen for absolutely everything perfectly — but CF is a higher risk than other genetic illnesses since I have the disease, so testing my husband for carrier status became a priority for us.
At the turn of the century, before Facebook, many with CF would chat on a once-popular chat board about all issues pertaining to CF. The chat board was open to all, and we were fortunate then to have the CEO of a well-known genetics company hanging around to answer our questions about CF carrier testing. This is where I learned that not all CF genetic tests are created equal — a really important bit of information for those with CF who want to minimize their chance of having a kiddo with CF.
Here’s what I mean about not all tests are created equal (and keep in mind there are over 1800 known CFTR mutations). The most commonly ordered CF carrier genetic test only screens for the top 32 most common CF genes (see to the side). This is what most doctors, OBGYN’s, primary care physicians and fertility specialists will order because this is the recommendation of the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG). Without a family history of CF, this test seems reasonable as it has a 90-97% detection rate in the populations with the highest carrier frequency for CF. Of course, this is most often what insurance companies will pay for as well.
The next most common test screens for the top 70 most common CFTR mutations – providing a 91-97% detection rate in the populations who are most likely to carry the CF gene. But what many with CF and their providers may not know, is that there is a test to sequence a person’s entire CFTR gene (including deletions and duplications) — and this provides the best chance science can currently offer for identifying if a person is a CF carrier.
Since there are well over 1800 disease causing mutations of the CFTR gene, my husband and I didn’t opt for the 32 or 70 mutation test, but instead did CFTR sequencing — and it’s a good thing we did, because my husband is in fact a carrier of a rare CF mutation that would not have been picked up by the top 32 or 70 test.
I wish I remembered the name of the gentleman that taught me about these different carrier tests because, without him, I don’t think we would have known that there were more than 1 type of CF carrier test. I would have just asked my OBGYN or fertility doctor for a CF carrier test, I would have likely received the 32 mutation test, and my husband would have received a false negative result.
At the beginning of this process, I asked the CF center I have been attending since 1999 how to navigate the carrier testing process and I was provided with almost no information whatsoever. I know my story isn’t uncommon and many others across the US have received the same lack of support from their CF team — but thankfully amazing groups like the Cystic Fibrosis Reproductive and Sexual Health Collaborative (www.CFReSHC.org) are trying to make CF care center experiences like mine the exception instead of the rule. With more than 50% of CFers in the US over 18 years old, care teams should be not only be armed with information to guide us, but should be willing and eager to walk with us through this journey. Having a child, with CF or without, can impact our health — and therefore our CF care teams need to take interest and be involved in the process with us.
So where does this carrier result leave me and my husband? Well, we still aren’t sure if we want kids; but more importantly, we are grateful to have the knowledge to make an even more informed decision about children. Leaving it up to chance, we have 50/50 odds of a baby with CF if we conceive naturally, since he is a carrier. We can reduce those odds to almost zero by doing preimplantation genetic diagnosis; or we could adopt. At the end of the day, we feel empowered with the information we have that will allow us to choose what is best for our family — even if the choice ends up being not having children at all.
Before I go, I want to mention 2 more items:One, if you are a woman with CF and over the age of 18, I would highly recommend you look in to the Cystic Fibrosis Reproductive and Sexual Health Collaborative (www.CFReSHC.org). This issue impacts every single one of us and this group is making amazing progress towards improving sexual and reproductive health resources, healthcare, and knowledge for women with CF. And two, I didn’t have the space to discuss how insurance plays in to all of this, so if you have any questions, feel free to email me at asylvis@usacfa.org and I’ll be happy to help you. I promise, it’s not as bad as you may assume it is.
About the Author Amy is 38 years old and lives in Los Angeles with her husband and dachshund. Amy has been an avid reader of CF Roundtable for 20 years and currently serves as the Vice President. She can be reached at asylvis@usacfa.org