CF Frustrations

Disclaimer: I’m an engineer, not a doctor. Don’t take any of this as fact if you are looking for CF information. I’m just getting this out from conversations I’ve had.

So, I think we’re back to the Cystic Fibrosis testing again. A quick review: I am a carrier for CF, I found out at about 8 weeks pregnant. I have no family history. My mutation is serious. M has a family history for CF, his mother’s cousin, K, died on Friday at age 43 due to CF. We had M tested for the 1570-ish most common mutations of CF and he came back clear. We waited to get this news before telling M’s mom (she’s a classic worrier). When we told her the whole story, we learned that her cousin K had a sister who died at the age of 3 from CF and her (and M’s mom’s) grandfather had several siblings pass away before the age of 10 due to pneumonia (most likely undiagnosed CF – this was the early 1900s).

Ok, so I told the doctor about this and didn’t think much more about it. He called me today to schedule my last blood draw and said he had been thinking about this more (you never want to hear that a doctor has been thinking more about your case). Turns out, those last 30-ish mutations that they didn’t test for are not only the least common, but they are also the most severe. The most severe mutations are the ones that you never hear about because the child dies very young. He doesn’t test for these types – deletion mutations – because his lab doesn’t have a good way to do it yet. After he learned about the early deaths in M’s family, he realized that there’s a strong possibility that M’s family could carry a deletion mutation.

My mutation (deltaF508) gives a person about 10% lung function. A deletion mutation gives 0% lung function. Pair these two suckers together and things look pretty grim.

I’ll talk this over with M tonight or tomorrow night (depending on his job stress level) and we’ll decide if we’re going to do the further testing at another clinic.

Odds: Assuming M’s great grandfather had CF, M has a 1 in 8 chance of being a carrier. Our child has a 1 in 4 chance of having CF if we are both carriers. Total: our baby has a 1 in 32 chance of having bad CF.

I know they can test for CF in an Amnio. I need to find out if that test will check for all mutations. But then again, even if this kid isn’t affected, we still want other kids and we’ll want to know for them, too. I think I want him to get the full test. He’s not going to be happy.

Crappity crap. I’m tired of worrying about this. I’m tired of making M worried about this. He had finally started to relax. He’s in the process of finding a new job and I really don’t want to add to his stress. I’m already freaked out about my baby dying before birth, now I’m going to be worried about a painful death in the first few years.