Yesterday was a great day for Koan. I stayed home with him in the morning, so he got to play with me and Adrienne until about 8:30 AM. At that point, I put him in the car for a trip to Iowa City — one his favorite places to go. By 9:00 AM we were at the U of I Children’s Hospital and there were all sorts of new people for him to flirt with and charm. By 11:00 AM we were headed back to Cedar Rapids, and when we made the turn into the Prairie campus, he was going crazy with excitement. We were back to school before lunch. That’s pretty close to a perfect day for Koan.
The appointment was really interesting for me, too. Back in early September, we re-engaged with UICH because Koan was having more frequent seizures again. After some very thoughtful discussion, the care team and I elected to put him back on an anticonvulsant medication. It seems to have worked really well. We are not seeing any side-effects and more importantly, we’ve not seen a seizure since we started the medication.
Also at the September appointment, the neurologist, Dr. Matsumoto, asked if we had Koan tested for Angelman Syndrome, a genetic disorder. Back in 2008, we had a battery of genetic tests done on Jeri, Koan, and me to see if there was a cause for his delayed development. All of these tests were inconclusive. But, Angelman Syndrome often seems to come up with Koan. People with Angelman Syndrome nearly always have a happy aspect — smiling, laughing, just generally looking very happy. They have difficulty with mobility and verbal communication and they also will flap their arms occasionally. In addition, people with AS often love water and can demonstrate problem behaviors (swiping). These descriptors fit Koan to a “t”. Over the years, we’ve actually had a couple of people approach us when we’ve been out and about and ask us if Koan had Angelman Syndrome. If you look at the AS site I linked, the pictures of people with AS just “feel like” Koan to me. However, again, one of the genetic tests we had done in 2008 had ruled out Angelman Syndrome. But, I’ve always harbored a little doubt about the accuracy of that test. I let Dr. Matsumoto know at the September appointment we did indeed have that test and it was negative. Her response was, “Are you sure?” She clearly shared my feelings about AS, but she looked at his chart and confirmed my assertion. As we ended that appointment, she suggested we meet with the genetic counselor when we followed up in December.
So, yesterday, Koan and I met with a genetic counselor. It was hilarious. She talked to Koan and I for about five minutes, then asked, “Are you sure you had the Angelman test?” Just like Dr. Matsumoto, she confirmed we did. But, she then went on to say that test we had done back in 2008 was about 90% effective in detecting the genetic markers for AS. So, she was recommending an updated, more granular test that should definitively tell us if he has this specific disorder or not. Since the test is rather expensive, we need to wait for pre-approval from insurance before going forward. I haven’t thought a lot, yet, or even talked to Jeri about what we’ll do if we not approved. I hope that’s a non-issue and we are approved. But, if Koan has taught us anything, it’s not to borrow trouble. However, if we are denied, it will be an interesting choice for us — do we find a way to pay for testing out of pocket or do we just go on, without this knowledge.
Even if we are pre-approved, I’m finding that I’m a little apprehensive about this process. As I’ve said before, not having a label for Koan’s diagnosis is the best and worst thing about living with him. The best comes from hope — hope that he won’t be limited by a concrete determination of his condition — one that will set limits on what he might be able to do. And, the worst is the uncertainty of not knowing what to expect and not being able to plan. I know it’s not that black or white. Even with a named diagnosis, there’s a spectrum of impact and thus expectations. So, it’s not like an AS diagnosis locks him into a certain set of limitations. But, part of me has, frankly, gotten used to not knowing and that’s the more comfortable state.
If it does turn out the Koan has Angelman Syndrome, the really good news is that because AS is closely linked to autism disorder there’s lots of research in progress on treatment and mitigation of symptoms. That’s pretty awesome. There’s also the allure of community — support groups and organizations targeted to helping people and families impacted by Angelman Syndrome. That would be pretty great, too. So, we are now entering a new “wait and see” period. First, we need to get approval from insurance to pay for the test. Then, the test will take 4-6 weeks to process. Stay tuned…