Where we are headed...

The past few weeks have proven to have their highs and lows. Ian has been doing a great job with scouts. He loves it and enjoys spending time with Brian. They have done things around the house for him towards earning his badges or belt buckles. There are some family things coming up which we will be attending. Becca has joined Brownies, so we have been busy with that. There are numerous families which cross over like we do.

Ian is thriving in school. Learning to read, spell and add. At times he does get frustrated with his homework but we slow it down some and then he gets it. We were in the car coming home yesterday and you hear him spelling some of his words…is…i and s, did…something, i and d. Last year, he started to learn keyboarding as an additional means of doing his work. Well given his recent uncontrollable movements, keyboarding has become his main form of doing his work. He does still ask to write, however, it is scribble and unreadable.

About a month ago, Brian and I, among others noticed Ian was having tremors. Well what we would call tremors, at that time I was describing them to people as Parkinson’s like tremors. After seeing Dr. Raymond last week, and he saw the tremors, he told us it is actually choreoathetosis. Taken from WeMove Worldwide Education and Awareness for Movement Disorders;

Chorea is an irregular, rapid, uncontrolled, involuntary, excessive movement that seems to flow randomly from one part of the body to another. The affected child often appears fidgety or restless and unable to sit still. The word "chorea" comes from the Greek word for dance. The jerky movements of the feet or hands are often similar to dancing or piano playing. When chorea is severe, the movements may cause flailing motions of the arms or legs that results in throwing whatever is in the hand or falling to the ground. This form of severe chorea is referred to as "ballism." Walking may become bizarre, with inserted excessive postures and leg movements. Unlike parkinsonism, which is an inability to make voluntary movements, or ataxia and dystonia, which affect the quality of voluntary movements, the movements of chorea and ballism occur by themselves, without conscious attempts at movement. In some cases, attempts to move may make the symptoms worse. Athetosis is a slower writhing and twisting movement. Choreoathetosis is a movement of intermediate speed, between the quick, flitting movements of chorea and the slower, writhing movements of athetosis. Choreoathetosis is the most common form in children. Choreoathetosis tends to worsen with attempts at movement and often occurs only while the child is attempting to move. It therefore shares features with dystonia; it is not clear whether or not choreoathetosis may be a form of "hyperkinetic" dystonia, in which there is too much movement due to involuntary overflow of activity into muscles the child was not intending to activate. It is possible that some children with choreoathetosis have symptoms of both chorea and dystonia, but finding the best method to sort this out in any particular child will require future scientific research.

When we first told Dr. Raymond about the tremors…he started Ian on zonisamide. The first week he was one it the movements were much better. So we increased for the second week and the movements became significantly worse. We did not even wait for the full week to come and go before calling Dr. Raymond. It was decided to stop the zonisamide for a few days to see what would happen. The movements got a little bit better but he was still having them so once the medicine was out of his system for a few days we started him back up on one pill again. This would be Sunday, October 10th when we restarted it. It has been a week since he has been on this dose and we are not really seeing any improvements. There are nights when he can’t even sit in the chair for dinner without moving all over the place. So I have a call into Dr. Raymond to update him on this.
On Wednesday, October 13th we went to see Dr. Raymond. He had received the most recent results we were waiting for on the Seriaptein Reductase (SR) deficiency…and to no such surprise they were normal. So where does this leave us….it leaves us still looking for answers. What we do know is that Ian has an elevated prolactin level which indicates a dopamine deficiency, abnormal spinal fluid results also indicating a dopamine deficiency, and a response to L-Dopa/Carba-Dopa (sinement). At this point, Dr. Raymond is contacting another MD in DC along with some MD's in Utah to see what their thoughts are. I also asked him if he has spoken with Dr. Hyland recently since all of the results have come back normal, he said he has not and he would be in touch base with him as well. It was also brought to my attention about a program at NIH, the
Undiagnosed Diseases Program. I mentioned this to Dr. Raymond, he told me to send him what needed to be done and he would work on it...so one never knows.

As always, we are taking it one day at a time and making sure Ian knows how loved and special he is.