Keep calm and CHARGE on

So today I got a call from the geneticist. Celina tested POSITIVE for the CHD7 gene mutation which means she does have CHARGE Syndrome. Maybe it was ment to be that I'm on vacation when I got these results. Because then maybe I won't over think it. Even tho my gut told me this is what she has, it's still different to get the confirmation. For a while I was wondering if I shouldnt have pushed the doctor to run this test. Im so glad I stuck with my gut feeling! While I obviously have concerns, overerall I'm very releived! We have an answer! We know what we can expect! Thanks all for all your positive thoughts and prayers, and please keep is in your thoughts and prayers throughout this life long jorney.

FISH genetic test results

  Hey all! I got the results for Celina's FISH genetics test. This was the test to see if Celina had del22q Syndrome (also know as digeorge syndrome). The results came back as I had expected. She does not have this. The diagnosis for CHARGE is now looking more likely. I spoke with the geneticist and if they are able they will use her current DNA sample to start running the CHD7 gene test for CHARGE syndrome. This takes a few months to run so i'm hoping we're able to run it in order to have results by our next appointment in June. I'll keep y'all posted!!

Because we always seem to hit the jackpot in rarities....

    As you know, I was waiting intently for both Celina's Spine X-Ray and ECHO results. Well I got them back yesterday and it looks like Celina has a 27 degree thoracic curve in her spine. Infantile scoliosis is rare but we seem to always hit the jackpot on raritys! Because Celina is so young and has many years to grow, this means her spine will get continually worse. So we need to jump on it right away with treatment. If she was say 15 it wouldn't be as concerning and they would just keep an eye on it as she grew for the remaining few years. Treatment options for Celina are a back brace either full time or just at night, or spinal surgery. If she has surgery they would place rods in her spine to hold it strait, bolt them on and hopefully keep it from curving further. Unfortunately there is no way to reverse the curve she already has so she will have that for life. We see an orthopedic surgeon on May 4th so I'll update more on this then.

    ECHO. The ECHO results came back good!! So far no thickening of the muscles/walls and no abnormal sized heart chambers!! YAAAY! I can breath again!! We have to go back in 3 months to re check but I'm feeling pretty positive!!! Thanks all for your thoughts and prayers! It was a rough couple of days there.

Here is a picture of an example of what Celinas Spine looks like: