For my birthday, I have received two things... the possibility of an official diagnosis for H. and a ticket into the world of parenting a child with a rare disease. And I'm OK with both of them. I'm even OK with turning 46.
Yesterday we met with the neurologist for the first time. He spent a long time with us and I really like him. Based on the CT scan results and what he visually saw, he is nearly certain that H. has Linear nevus sebaceous syndrome. The CT scan showed that the left side of H.'s brain is larger than her right. This is the key clue. (The following is as I understood what the doctor said.) It's not just tumors which formed, but is something that happened in utero as a result of the cells which turn into the skin and brain going haywire. It seems as though it is randomly occurring and is not a genetic syndrome.
In some ways bringing in a 9 year old and receiving this diagnosis is a lot easier than bringing in a newborn. One of the ways this syndrome would affect the child, because one side of the brains is enlarged and because the neurons never pruned back as in a typically developing child, is that the brain function can be compromised, as can learning, and communication between the two sides of the brain. In a newborn, there would be no way to know ahead of time how this would play out, but in a 9 year old, we have a much better idea of how her brain is overcoming the irregularity.
And we have some very good news with H. First, her eyes are not affected. Next, she shows no preference for her left side over her right side. (You know that the two halves of the brain control the opposite side of the body, so if her left side is affected, it could have implications for the functioning of the right side of her body.) The doctor had her do a whole lot of things looking for even slight preference and he couldn't see anything; both sides function equally well.
You won't be surprised to learn that this syndrome can have a significant impact on intelligence, but I could tell the doctor was both surprised and pleased at her level of general functioning. He had looked at all the test results before he had come into the room to meet H., and I'm pretty sure that he was expecting a child who functions very differently from H. He was amazed at how much English she has at less than three months home, her ability to communicate, and her social-ness. (Though everyone is amazed at her social-ness.) We might have some more academic issues down the road, but it would seem she has been protected from the worst the syndrome can offer.
But as the doctor said, at this point an official diagnosis doesn't really matter so much since it won't affect her treatment; we will treat the child and the issues in front of us and not the syndrome. We will continue to work on a plan to remove the tumors (part of the syndrome is that the haywire cells can create tumors) and continue to work on figuring out her reported seizures. Scheduling an EEG is the next thing on my list. This type of brain abnormality has a high rate of seizure activity associated with it and the doctor has a very good idea of what he will find.
The final question I asked him was about prognosis. For the most part, what we see is what we get. She will continue to grow and develop and we will have to wait and see if the affected side of her brain has any other functioning issues in store for us. But that is mainly a discovery-thing because it's already there, we may just not be aware of it. There are two downsides. One is that people with this syndrome have a higher incidence of cancerous tumors forming. That's not a guarantee, just a greater chance. And down the road there could be possibly cardiac issues. If we have to cross those bridges in the future we will, but I'm certainly not going to ask for trouble ahead of time. We all live with the possibility of these things.
The adventure continues.