Tuesday, September 15, 2015

Cystic Fibrosis

Those of you who are friends with me in real life and/or on Facebook will not find this surprising, but it feels wrong to move on with this blog without mentioning it.  This is mostly copied from an email sent out to people close to us, which was modified into a shorter Facebook post.

We found out on Tuesday, August 11th, when she was 3.5 weeks old, that Matilda has Cystic Fibrosis. We had our first appointment at the clinic at Children's Hospital in Oakland two days later where we spent many hours finding out details and what this will mean for Matilda and for us. The team there is amazing and we feel like she will be well-taken care of. The tl;dr is that with the medication and treatments today, it's a chronic not fatal disease and there are new treatments being developed all the time. Basically it's likely to be a pain for us and probably for her but shouldn't prevent her from doing most things. It also means we will be extra crazy uptight parents about hand-washing, taking them places with a lot of people, and people not being around her when even a tiny bit sick, as a small cold can be disastrous in a child with CF.  

There is tons of information that we'll spare you in this email.  :) 
If you are wanting to read more, we've been told again and again that the only valid source of info is the Cystic Fibrosis Foundation, as the changes are rapid and they keep very up-to-date.  cff.org 

Anyhow, this was a surprise because as part of the whole fertility extravaganza we were both genetically tested for CF mutations, and because our nephew Lex has CF, we were especially aware of the risk and were quite careful about this. I am a carrier, and Ian was told he was not. It turns out that they only test potential parents for about 20 mutations out of the 1800 that exist, and Ian carries an extremely rare mutation they don't check for routinely. It's most common among French Canadians and in the South of France.  Luckily this mutation seems to be pretty mild, as far as mutations go.

Anyway, it was a huge shock, and we are still sort of processing it, but because of our nephew, we know more and are more prepared than most might be for such news. It's a lot less scary having seen someone close to us go through it - and to see that it sucks, but that he's growing up to be a great kid - causing as much trouble as he would have without CF.

So, that was the email we sent awhile ago.  In the meantime, we've had some more appointments and started nightly treatments for Matilda.  We've learned a lot and have a lot of hope.  There are medicines in trial right now that would treat each of her mutations and we have no reason to believe that this won't be virtually cured during her childhood.  Gene therapies are being worked on.  Etc.  It is, though, also scary and heartbreaking and it makes me cry when I think about it too much.  We have our first full official clinic appointment tomorrow, after which they will be once a month for her first year, tapering down after that to once quarterly for the rest of her life (or until things change).  

In the meantime, we are just doing AOK around here.  Both girls are thriving.  They are now about 8 and a half pounds, and we've graduated from weekly to monthly appts with the pediatrician.  I love looking at their weight growth curve next to the 5th percentile growth curve.  They started so far below it, and they are going to pass it any minute now (see below)!  So, keeping them both happy and healthy is the goal, and we seem to be meeting it so far!
July 28th

 September 10th

Next post will be more fun.  I promise!


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