Friday, October 24, 2014

11 Weeks Old and a New Diagnosis

Abby is now 11 weeks old and a whole 9lbs 10oz! While she is gaining weight steadily, we still aren't sure what is causing her breathing problems. They've run a lot of tests and she doesn't have any identifiable viruses or infections, but is still working harder to breathe than anyone would like. She likes to perplex us, this one.  We're hoping we won't be inpatient for too long this time, but who knows. They've been adjusting her meds to see if it makes any difference, but we haven't seen consistent improvement yet.

We did receive some interesting news though...

Shortly after arriving back at CCHMC we were visited by one of the genetic counselors we had met with during our first admission, letting us know that all of Abby's genetic panels had returned. After over six months of waiting and wondering, we finally have an answer: Abby has Noonan Syndrome, caused by a mutation of the KRAS gene. Noonan Syndrome is found in approximately 1 out of every 2,000 people, though only 2-5% of people with NS have the type Abby has, even fewer have craniosynostosis, and it would seem that Abby is the third person ever reported to have multi-suture craniosynostosis - establishing our girl as the super special nugget we've always known her to be.

The diagnosis of Noonan Syndrome explains nearly everything Abby has had to contend with since birth - from her specific heart conditions to her struggles with feeding intolerance. Though craniosynostosis is an atypical finding with Noonan's, it is not without precedent. Having this diagnosis also helps inform Abby's medical team of some things to look out for in the future: for instance, bleeding disorders are very common with NS, so she will need to have special tests run before every surgery to avoid complications. Otherwise, her present conditions will continue to be treated the way they would with any other member of the population. 

For me, it's comforting to know that there is one, over-arching explanation for Abby's medical struggles. One that we did nothing to cause, and could have done nothing to prevent. We've wondered since that first ultrasound what the puzzle would look like once completed - first it was Down Syndrome, and then it wasn't, next it was Pfeiffer Syndrome, and then it wasn't. I feel a lot of peace in finally knowing what it IS. It in no way defines Abby or what her life will be like, as the presentation of Noonan's varies widely, it simply helps us be better informed when considering her medical care. I feel like the puzzle has been solved. There aren't any missing pieces, it all fits, and now we can more fully appreciate the beautiful picture that is Aberdeen.

Along with receiving this news, this admission has been revelatory to us, in that we now feel sure of our need to move. We have found a place that cuts our current drive to CCHMC in half, and we hope to move in the next month or so. Though there are things that will be stressful about moving, we are confident that this is the right decision for our family and are looking forward to it.

As always, thank you for your continued thoughts and prayers.

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