Abigail - A Diagnosis

We have been awaiting/dreading some genetics tests the past two weeks and have finally heard back from them. We have been in a medical limbo during that time and weren't exactly sure what our sweet girl has been up against. Now we know a bit more.

Yesterday we met with Abigail’s Neonatologist and we were given a diagnosis that explains most of the issues Abigail is facing. “Cat Eye Syndrome” is its name and essentially it means Abigail had extra pieces of chromosome 22. It was explained to us as accidental (meaning no explanation why it occurred) and very rare. You can “Google” it but there are very few documented cases so information on the internet is sparse. Abigail has some of the defining traits of this syndrome some of which are severe and others mild. Today we met with a geneticist who reiterated the fact that this syndrome is rare and that Abigail is an individual who may or may not show all or most of these traits. She said she even had a case of a person who didn’t know they had it until the age of 28. In other words, time will tell.

Abigail has already faced several challenges in her short lifetime mainly these:

1. Liver and Gall Bladder Problems - She more than likely has biliary atresia meaning her liver and gall bladder are not properly getting rid of the bile her body is generating. She is set to have this surgery Friday, March 11.

2. Breathing Issues - She has been on oxygen since birth and improved enough for them to send us to the progressive unit of NICU for several days. Last night it started to get worse and she is now on an increased amount of oxygen. She has also been moved back into the primary NICU.

3. Heart Problems - Over the weekend a murmur was discovered which led to more concern over Abigail’s heart. After a few tests and close examination of her heart we talked to her Cardiologist today and found out she had several anomalies. These problems help explain why she is having trouble breathing. Surgery to correct these issues is very likely but for now it is behind the liver and gall bladder in priority.

4. She has a bottom issue that is not too severe but will require surgery when she is more developed. Closer to 3-6 months old.

This has been a great deal to take in over the past few weeks but we remain hopeful. We have been blessed with a beautiful baby girl who we’ve fallen in love with and desperately want to bring home. It is really tough leaving the hospital, especially with news that seems to rarely go in her favor. We do know that she has great care where she is and that many people are praying for her.
There are many challenges Abigail will face in the coming days and it is the prayers, encouragement, and support of our family and friends and even people we don't know that we are so thankful for. We ask that you would continue to keep Abigail as well as us in your prayers.