when in doubt, research!

I’ve been in research-mode the past several weeks–learning everything I can about tetralogy of fallot, pulmonary atresia, unifocalization surgery, genetic microdeletions, 22q11.2 ds, through reading scientific articles, awareness websites, podcasts, and speaking directly with parents of children with those conditions.

I feel ok about 22q–the symptoms vary widely and no one child presents the same way as another–so really we won’t know exactly what Kit is going to deal with until she is dealing with it. It is one of those syndromes that is far worse to google than to look at reputable sites, and most parents of children with 22q / adults that I’ve spoken to have far milder symptoms than the overwhelming 180 possible manifestations listed when you randomly google it (if you are on instagram, look up the hashtag #22qties to see some adorable 22q babies)

I’ve also learned a lot about how early intervention and one-on-one interaction can make a world of difference for her–something I am equipped and ready to do anyway as a homeschooling mom–and with her heart condition, there were many aspects of intervention we would have been dealing with either way (speech therapy, physical therapy, frequent doctor visits).

Parents tell me the hardest part is the first few years, with the countless doctor visits, health problems, surgeries and interventions. Adults say that the hardest part was being bullied in school because of speech problems and of learning differences (math seems to be a problem for most with 22q).

There are still a few books I’d like to pick up on the topic, but for now I feel fairly well informed. And honestly the most encouraging part of this diagnosis was that the geneticist was NOT negative about it and assured me that many children with early intervention go on to live normal healthy lives. Overall, I’m grateful that she has this and not a syndrome that causes death.

The heart condition is the primary concern for us right now. The presence of MAPCAS will make surgery complicated. I’ve not been able to find solid data on survival rates–perhaps this is for the better–but from what I understand complications with surgeries are a concern, as well as MAPCAS that are too small or weak to be used in the unifocalization procedure (this is where they pull all those little collatoral arteries together to make her heart pump blood to the lungs like it is supposed to). I’m hoping that at our next appointment, the doctors will see good developments in her heart…but I know that nothing will be certain until she is born and they can get a good look at what is going on in there.

Right now, our primary prayer needs are-

  1. that Kit’s heart develops in a way that the surgeons can work with
  2. that Bryan and I have peace and trust in God during this time

In the few short weeks since the diagnosis, I feel like we’ve been grieving in a way–each week finding out more bad news, uncertain whether our baby girl will live or die. We have felt a ton of support from our family, church, and friends, and are so grateful for all of you who are praying for us and Kit!

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