I keep hoping that the more this disorder is studied, the more likely it will be that there will be answers, and the magic pill will be found. I am not expecting the magic pill that makes David better, I am pretty convinced that David will be David and I am totally ok with that. Part of what makes David really special to me is his innocence. He is still really happy at the age of almost 10 sleeping with his 2 giant Mickey Mouse stuffed toys. He loves cook books and doing puzzles, and is just generally a pretty happy kid. He doesn't need a lot in life to make him happy- he is happy to be with other people, but is also equally happy to spend hours building and playing with legos by himself.
By magic pill, however I m hoping for the explanation as to what makes David tick, and when he struggles what is making him struggle. When David was first diagnosed with seizures at the age of 4 he started taking a medication called Topomax. For David, this was medication that created a huge change in his entire being. His language blossomed, his behavior calmed dramatically, and he was much more aware of all of us. This was the first time that I felt like David was really connected to me.
Since then, he has tried other medications but the only one that I have seen have a true impact on him has always been the Topomax. In late September, David was taken off of the Topomax because he had a kidney stone and this is a known side effect of Topomax. In October there was a drastic change in David's behavior in school, he went from being a calm, well behaved student in his classroom, to really needing a high level of support each day until around 11:30.
In November, David went back on the Topomax for a trial period, and there was again a change in David. The calm David returned, and while he wasn't back to his baseline behavior of September, he was doing better and better each day. Once again, in the beginning of December he came off of the Topomax, and once again his behavior plummetted. He again was in need of a high level of support each morning in the classroom.
For the past week I was trying to get in touch with the specialist at the 15Q duplication clinic to get him to help me figure out what was going on with David. Was he having seizures in the mornings? Was the Topomax doing something else for David? Was he having headaches? He often would point to a part of his head when asked if something hurt or was uncomfortable. It is so frustrating to know your child is struggling, but not know what is wrong and not know how to help him.
The only thing that I know for certain with David is that he is a child who will ALWAYS do as well as he can when he can.
The feedback that I received from the specialist was that children who are autistic often do well on Topomax because it is a mood stabilizer. As I read this feedback my heart sank. For so many years David has been diagnosed as autistic, but he is not at all autistic. He has symptoms that are similar to a person with autism- he struggles with communication, his eye contact comes and goes, he struggles with social relationships and he has some repetitive behaviors. However, all that said, David is very connected to me and many other people in our family, essentially once you are in David's world the relationship he has with you is very close. He is able to communicate, but often chooses to use few words, however at other times he is super chatty and giggly. Essentially, to define him as a person with autism just simply does not explain who David is and does not describe all of David's struggles completely.
In many ways I feel like I have been fighting against an autism diagnosis for David for years, so to read this information from the specialist, who is supposed to totally know about David's genetic condition, was disconcerting. Thankfully today we had an appointment with David's local neurologist and I was able to really ask him questions and get some great feedback.
Our local neurologist knows David- this was even more clear today as he teased David. David is ALWAYS chatty as we enter the waiting room in the doctor's office and is almost always silent inside the office. I didnt realize that the doctor knew this, however today he teased David and wanted to know why he won't talk to him. The doctor referred to the "morning David" and the "afternoon David". The "morning David" has a twinkle and a liveliness in his eyes and when he talks there is an enthusiasm and speed to his speech that the "afternoon David" doesn't have. I loved that our doctor knew these things.
The doctor explained to me that almost anyone these days with a developmental disability could be classified in the category of autism somewhere, but that he agreed that David is not autistic. By virtue of him having a genetic disorder, David cannot be diagnosed with autism.
The doctor also explained that we are in a circle of the chicken and the egg.......When David came off of the Topomax, did David's behavior change because he stopped sleeping as well? Did he start having headaches? Did he feel more confused because the Topomax was giving him clarity or calmness?
The big answer for now is "we don't know." David and I are at the beginning of the age of the 15 Q duplication. This is a newly recognized condition, that means we don't have centuries of data which shows what medications work best and why they work best. We don't know what happens when these children go through puberty. We don't know a lot about this disorder.
We have a better chance now more than ever to find out from a larger group of people how this condition affects people. With the internet and the world being more interconnected, families can share with each other how the condition is affecting their child. What medications are helping their children, and what makes their children struggle.
For now, we are lucky to have a local doctor in our corner who knows David and is willing to try a variety of things to make David be the best David he can be. He is willing to listen to me and David's teachers and to hear our thoughts about what is going on with David, and to use these thoughts as working theories. He is willing to hear me, as David's mom, as the person who knows David intimately. For me, that is the most important thing. I need a teammate, who has the medical knowledge to help us, but who also has a desire to help David be the best David. I need a doctor who knows David intimately, and a doctor who knows and cares about my morning David as well as my afternoon David!