Took me a few days to get around to this. It's been non-stop around here.
So I took Connor to see Dr A. He is Austin's geneticist also. I didn't expect it to amount to much this time. Connor has been to see Dr A before and he has tested for quite a bit. Nothing has been conclusive to date. From day one I have wanted to test Connor for the same TSC2 gene mutation that Austin has. Unfortunately...or fortunately, Austin's mutation is inconclusive. The 'specialists' don't know if it's a disease causing mutation. Generally a person with Tuberous Sclerosis Complex has skin findings known as ash leaf spots, as well as tubers that can be found throughout the body. Developmental delays and seizures are also associated with TSC. Austin doesn't have any of the skin findings, but does have a brain lesion. He also has the seizures and developmental delays. Jeff was determined to have the same mutation, but has no other findings. Because of this, the geneticist feels the mutation means nothing and therefore, we don't need to explore it further. However, Austin's Boston neuro and the boys' developmental pediatrician feel it does bear looking into because the affect/extent of the disease can be wide ranging. It is believed that the disease is under-diagnosed for this reason.
No matter what I say, Dr A refuses to do the test. He was supposed to meet with the boys' developmental ped to discuss this issue. I found out about a week ago that the meeting got cancelled. I suggested we re-schedule the appointment, but I was assured that Dr A had other issues to discuss...so off we went. I'll tell you that I hate geneticist appointments. It requires going to the hospital, dealing with the always full parking garage and the appointments are always 2+ hour.
We met with the genetics counselor first. She reviewed history and then mentioned two tests Dr A wanted to do... a test for Smith-Lemli-Opitz and a Genomic Microarray. I once again stated my case for the TSC test. She went and met with Dr A and then they both came in to talk to me. After examining Connor he decided not to do any testing this time. A waste of time, just as I expected. He did say though that he would be willing to do the TSC test, IF and ONLY IF, Jeff had a full diagnostic evaluation and something was found. So I have a glimmer of hope.
Although I wonder why I should be hoping to find something. It's not that I want Austin or Jeff or even Connor to have a disease. I truly don't, BUT I also don't want to ignore a test that could have long term effects on their health, or the health of grandkids. The thing with the tubers is that they can 'grow' in the body at any time. Generally the tubers are harmless, but not always. I just don't want to look back 10, 20 years from now and realize that we chose to ignore an inconclusive test.
The one positive from this appointment is that I had the chance to learn a little more about Smith-Lemli-Opitz. Although I agree that the diagnosis doesn't fit Connor, it DOES fit my cousin's son Aaron. As I read the diagnostic criteria, I truly felt I was reading Aaron's medical chart...right down to the Hirshsprung's Disease. It would be great if we managed to find something that could be causing Aaron all his troubles.
So I guess it wasn't a total waste.