I got a call from my fertility clinic today, because I can’t ever have a week where they don’t call me with some form of annoying or bad news. It seems I am a carrier for a cystic fibrosis mutation, so we will have to meet with a genetic counsellor and Pea will have to undergo a more rigorous screen to ascertain if he is a carrier of any form, and thus assess our risks.
The fertility clinic will apparently not touch us with a ten foot pole until this is done. So I guess it is good that we’re on hiatus right now, but this is seriously annoying.
The thing about getting genetic screening results back when you are a formally trained geneticist is that it is hard to know at what level to interpret them. Am I the anecdote-loving non-medical doctor, who thinks “hey, maybe that’s why I’m the only person in my family with asthma?” (these are completely unrelated conditions, but both happen in the lungs, you see). Am I the trying-to-get-this-fertiity-show-on-the-road person who is frustrated with yet another delay and yet another hoop for Pea to have to jump through? Or am I the trained geneticist who writes down the mutation I carry (deltaF508) and immediately looks it up (a deletion mutation removing a phenylalanine from the 508th amino acid position), sees it is frequent (1 in 30 caucasians), and wonders why we’d have such a deleterious mutation kicking around at such high frequency, looks THAT up and finds a theory being a carrier makes you less susceptible to water loss during cholera infections. And then think “cool” and THEN think “wait, I don’t have cholera, nor am I likely to, this still actually sucks.”
So we can pay to see the genetic counsellor at my clinic, or Pea can find one within his network. Luckily (?) he’s going for followup blood work for his blood pressure tomorrow morning, so hopefully he can set something up through that doctor’s office and we can get this done within the two weeks remaining before I’m officially rubella-immune.