It only took weeks of calling, but I finally heard from the genetics counselor last Wednesday...of course I was Christmas shopping in a crowded mall and had some hearing issues, but it was a good conversation. I think we are finally making headway.
Connor's testing for VLCFAD (very long chain fatty acid) was negative. We were pretty sure of this, but just wanted to cross it off the list.
We also discussed testing of Connor for Tuberous Sclerosis. The geneticist and I have been butting heads on this issue for 6+ months. I even have the neuro and developmental peds on my side. We know both Jeff and Austin have a mutation on the TSC2 gene....I am clear. Science has so far not proven that it's a disease causing mutation. Jeff is symptom free and has no outward clinical signs. However, I feel he should have a brain MRI and an ultrasound of his kidney, liver and heart just to make sure. It is VERY common for TS to go undiagnosed because symptoms can be so mild. Austin has no outward signs but has the IS and the brain lesion. Granted it's only one lesion. His ultrasounds were all normal at 24 months of age. But I feel like we should continue to do ultrasounds to be sure. Besides, the only drug that keeps his seizures at bay is a TS drug. A drug that a lot of doctors won't use unless they have already proven a person has TS and seizures.
Then we go further into Jeff's family tree and there are more family members with EEG abnormalities, possible seizures, possible narcolepsy and a great uncle with a brain mass. This brain mass is what interests me most. It appears on a CT scan as a mass of dead cells the brain has grown around. Since the beginning with Austin, before we even knew about great uncle's mass, they have said that Austin's brain will eventually 'grow around' the lesion. This sounds just too similar to ignore.
Now we move on to Connor who has PDD and no outward clinical signs. Mental impairments are a common factor for TS patients. I think the next logical step is to have Connor tested for TS. The geneticist disagrees. I feel even though science hasn't proven this is a disease causing mutation, that there will always be that first patient and that first case that proves a scientific theory...and while I know my family is one in a million, I didn't want to prove it this way. But I also don't think it should be ignored.
So moving onto my point. In the call with the genetics counselor, she said that the dev ped and the geneticist are meeting in early 2007 to discuss a few patients and in particular to discuss this TS testing with my kids. I am anxious for this meeting to occur. We have already scheduled our next appt for late January and hope Connor will be having the TS test done shortly thereafter. Until then, we'll keep waiting and wondering.