Back in the Saddle Again...

Now with the holiday behind us, we are desperately trying to get back in the saddle with therapies, appointments, etc. Tuesday we had a doctors appointment with a sleep specialist. It went great to my surprise. The doctor spent 1.5hrs with me to thoroughly discuss the sleep concerns we have had with Kendal. Before the doctor came in, the nurse had asked me what Angelman Syndrome was - are you kidding me??? I tried to explain briefly but I had major concerns because children with AS do have sleep problems associated with the syndrome and I didn't want to have to educate the doctor on what little I know. Thank goodness the doctor was well aware of Angelman Syndrome and discussed the different aspects of how AS can effect sleep. She was very well versed and took a lot of time with us and seemed like she really wanted to help. She suggested that we tweak a few of our routines associated to her sleep time and also suggested that we keep a log until we see her again in 8 weeks. She stated that many children with AS are on sleep medications but we would try to correct any environmental or behavioral issues before we resort to drugging her. We have bumped up her nightly intake of Melatonin to 6mls and it has been working beautifully. She has slept the last several nights with no waking up. What a dream come true!!!

I spoke with Terry Jo (research advisor) and she told me they want to get Kendal in for a physical and neurological exam for the research study she is in. We also discussed whether we should proceed with further genetic testing on Kendal. Terry Jo feels like Kendal probably has an imprinting defect of her gene that has caused the diagnosis and suggests testing to clarify the recurrence risk. She has already warned me that sometimes they have to fight with the insurance company to pay for the testing. She stated that the testing was expensive (i'm guessing in the thousands) and that oftentimes she has to write letters to the insurance companies explaining that the test was crucial in determining if subsequent children will have the same diagnosis. In the next few weeks, I will try to investigate whether our insurance company would pay for this - I just don't think the test is that important to me right now. I guess I'm just up in the air at this point.

I explained to Terry that I haven't spoke with many of the other AS families because Kendal seems to be doing so much better than most of the other cases. I feel bad in a way that we have been so blessed. Kendal doesn't have near the obstacles that so many other children have to deal with. She totally understood and stated that once we found the mechanism, she would match me with a family that has the same type. It would be so nice to talk with another family that has a child like Kendal. Angelman Syndrome is still pretty rare and hard to find many people that have been exposed to it.

Awaiting on an email back from the Neurologist. Will update you hopefully soon on the EEG results...