Truncus Arteriosus & 22q11.2 microdeletion

Monday, March 1, 2010 8:43 AM, MST

We are going to finally start using a teeny tiny bit of the gallons of milk I have pumped!! Around 3mLs every three hours for the first day is what I heard, but it is a start!

Cassidy had a much better night last night, and was much easier to settle when she did wake up. She also loved her swing yesterday!

I mentioned that God's hand has been so evident throughout this journey. When we first received the diagnosis of Truncus Arteriosus, our neonatologi

st and cardiologist ordered a genetic test because approximately 30% of kids with Truncus can also have a genetic disorder called DiGeorge Syndrome. We were told it was just a precaution because they really didn't see any characteristic evidence of the disorder, but it was best to be safe. Cassidy really likes to be one of the small percentages. We were told this past Friday that she does in fact have the 22q11.2 microdeletion that indicates DiGeorge syndrome. DiGeorge actually has several names, Velo-Cardio-Facial Syndrom, Shpritzen Syndrome and more, though 22q11.2 microdeletion describes best the exact genetic problem. Well, yesterday on the second floor of this hospital, there was a symposium for parents and doctors, students, and specialists by a group called Chromosome 22 Central specifically about 22q11.2 microdeletion! Kevin and I were able to attend together and get our brains filled with massive amounts of technical information, as well as more practical information from parents and behavioral specialists.

In many ways, this syndrome seems really scary, just because there are 185+ different issues that can be associated with the deletion, and we basically have to go through the list as sha grows and check them off one by one whether she has it or not. And there are many varying degrees of severity that children with 22q present with. But because we know so very early, she will have all the interventions and help we can find made available to her. And dealing with a special needs kid isn't foreign to us!

Some of the charactistics are silly little things like flat feet and an outie bellie button are possible. Some of the characteristics are much more severe, like her Truncus, a possible submucosal cleft palate, missing thymus and therefore a compromised immune system. We will definitely be investigating with further testing to see just what issues pertain to us. So much of it feels managable and some of it is too overwhelming to start thinking about until she is older.

That is where we are at now, and you can understand why I was frustrated with myself for saying things were routine!

It is crazy that my daughter now has geneticists and immunologists on her team, as if neonatologists, gastrointerologists, cardiologists, and cardiac surgeons weren't enough! And there are probably more that I am missing. Not sure how I am ever going to keep them all straight.

I am now going to go poke and wiggle my baby so she will wake up and have her first feeding in over a week.

Pray that the symptoms of 22q will be mild in their presentation in Cassidy as she grows. Pray for wisdom for her team of doctors. And pray especially that her belly has healed completely, and that feeding will go smoothly, so that we can go home! Pray for our family at home too. They miss me like crazy, and I miss them so very much. Kevin has been so wonderful with them, and so tender in his care for me and for Cassidy. We just really want to be all together as a family. It will be good for all of us, Cassidy too, I think!