It's taken me awhile to write this post because it's hard to know what to say. James was diagnosed with 22q11.2 deletion syndrome, a genetic disorder due to a partial chromosome deletion, commonly known as Di George syndrome. We got the diagnosis in Wausau and two days later we were transferred to Chicago. Insurance finally agreed to transfer him as all the specialists he has needed to see are in one place at Lurie Children's Hospital.
It's difficult to describe the syndrome because there's so much to it and it varies so much by child, so I won't try. I'll link to a couple of the better websites below.
To start with, his neonatologist suspected something may be up after getting news about his heart defect in combination with his 'small mouth' that we don't think is that small. He was difficult to intubate when he was born and now we're told he has a small jaw as well. Usually whenever there are a couple things a little off, the doctor will get genetics involved as it's their specialty and job to determine what's going on. I remember being upset and still am to hear that anything is 'off' or wrong with James. He is perfect in my mind and always will be. The geneticist that got involved in James' case was in Madison so photos were taken of James to be sent to him. This was a rough morning; the lights were turned on full blast in his room and he was held down in different positions to photograph his head, hands, feet, mouth, throat, everything in multiple positions. Stop examining and scrutinizing my baby like he's a specimen. It was hard to watch, especially because we felt that this was silly and there was nothing wrong. They were wasting their time.
Time went by and one day our nurse came into our room and said that the genetic results were back and that the doctor wanted to speak with us. We had all but forgotten about this. Papa Hoge was visiting and he was asked to leave the room. My heart absolutely stopped beating and hit the floor. I couldn't breathe. I knew something was wrong. James' doctor, nurse, social worker and nurse practitioner all came in the room to give us the news. I don't remember how the conversation went but I just remember feeling like my world was collapsing around me. How can this happen? I have never heard of the diagnosis but I just thought this meant James was going to die young. That was my question, "what will his life expectancy be?" They didn't have too many answers and handed us a printout describing Di George. They also told us not to look too much into it online, that many cases posted online are worst case scenarios and that he may very well be just fine as this syndrome varies greatly.
Bring on the tears. Adam was holding James at the time and I just took him and cried. There was this instant feeling of wanting to protect my baby from everything that was going to come. The tests, the judgements, whatever life will bring and throw his way. It makes me cry just writing this because all I want is for James to live the most normal, happy and healthy life possible -- all things that he may very well have, but we didn't know that at the time.
Fast forward through all the tests that followed. We have basically been told that it has been determined he likely has a mild form of the syndrome. We don't know anything for sure as many issues surface and come with age and him growing and developing. His calcium levels are normal, his lymphocytes are on the high end for the syndrome but a little low for a baby his age, his kidneys are fine, his heart defect is something he can live with for now, he hasn't had any infections that we know of, he doesn't have some of the typical facial features, and he's growing on the normal curve for a preemie. All positives. His feeding issues are where things get confusing. Are they because he is a preemie and these are normal preemie issues or is this the Di George? We don't know. Hence his long stay in the hospital and allowing him to grow, mature and sort things out. We do know there are no obvious palate issues but there may be some hidden issues that aren't easily observed, hence the swallow study we will soon be having.
Until then, just know that this little boy is so loved and is getting the right help and is in the right place to grow into a strong, happy and healthy boy. He will be OK! We go about our days as if this diagnosis hasn't changed anything because really, it hasn't. If anything, it's changed our perspective and we love him that much more. We take everything day by day because that's all we can do.
U.S. National Library of Medicine - 22q11.2 Deletion Syndrome
22Q Foundation
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