January 12, 2006

CF Carrier Screening & Beyond

A dad-to-be writes in:

My wife is pregnant, and we have both tested as positive CF carriers. (Cystic Fibrosis).

We are going to see a geneticist early next week, wondering what to expect. Kind of a downer as opposed to the lighthearted humor that attracted me to the weblog, Hoping for some insight from parents that might have gone through it, how they coped, etc.

According to the March of Dimes, 1 in 31 people in the US are symptomless carriers of the CF gene, and the only way for a kid to actually get CF is if both parents are CF carriers. In that case, there's a 25% chance (1:2 x 1:2. Call your HS science teacher an apologize; that stuff about Mendel and peas DID turn out to be useful in your future life.) a child will show CF symptoms, and a 50% chance he'll be a symptomless carrier.

[Diagnostic trivia: before the development of genetic testing, a baby with CF was usually diagnosed by a "Sweat Test"; CF causes extra-salty sweat. Now, though, pre-pregnancy/early pregnancy blood testing is recommended for both parents, and in-utero test are also available as early as 11 weeks [for CVS] and 16 weeks [for amnio], to help parents-to-be to get ready and educated.

Anyway, if anyone out there has CF, or has a child with CF, or is a carrier and can share experiences and/or resources you found useful, definitely chime in.

CF Carrier Screening
Cystic Fibrosis [wikipedia]
NPR series on genetic testing: One Couple's Decision Against Testing for Cystic Fibrosis[npr.org]
2003 stories on pre-natal testing complications from BBC/New Scientist and Johns Hopkins.


My husband and I sort-of went through this when we found out I was a carrier (he has a history of CF in his family but ultimately did not wind up being a carrier). As I understand it, your genetics counselor will be able to tell you exactly what kind of CF gene you carry and that will be able to tell you what kind of symptoms you are looking at. The more I looked into it (I wish I could recall the websites that were particularly helpful - I will dig around and see if I can find my notes), there is a lot of helpful information out there. Not sure where you are, geographically, but you will obviously want to find out where the nearest treatment center is. Good luck. I know it's scary. And, of course, don't forget that there is 75% chance that the bambino does not have CF at all. As an aside, I think it's terrible that testing isn't done for couples considering pregnancy -- why wait to drop this little bomb on you until mid-pregnancy??

Anyway, I'm not too helpful, I know, but I will post again if I can find those websites the genetics counselor gave us.

[the ACOG--Am. Coll of Ob/Gyn--changed their recommendation a couple of years back to encourage both parents to get tested; it's kind of surprising that they didn't suggest pre-preg testing. -ed.]

There is no CF history in either of our families, so we didn't even consider the risk. Apparently this disease effects caucasians (European descendants) at a much higher rate than other ethnic backgrounds, but who would've known that?

Wonder how promising genetic therapy will be for this disease in the future?

We had a similar scare, but everything turned out fine. If you're in the NYC area, Dr. Richard Bonforte, affiliated with Mt. Sinai and who has another office in Jersey City, was a tremendous resource and oversaw a sweat test done on our child.

I know someone who has CF. He was told he would not survive his teenage years, but he's approaching 30 and lives a full life far from his traditional suppport web. He experiences serious outbreaks every year or two, which incapacitate him for a week or longer while he's at a treatment center. I've rarely met someone with such intelligence and presence. Not to say that doctors are wrong about the statistical likelihood of symptoms and consequences but never forget that people aren't the statistic.

Just so you know, we're working our asses off on gene therapy for CF.
Big thanks to everyone at the CF Trust (UK), which funds our work, and best wishes to all CF-affected families.

(scientist, long-time DT reader and pushchair geek)

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