I'm pretty bad at going back and reading previous posts, sometimes they annoy me so much I can't imagine anyone wanting to read these things 😃, but I did briefly go through the post on Sol's neuromuscular clinic, and that reminded me...
Shortly before Christmas I got a call from genetics about the testing they did on Sol's plec gene. When we originally did this test that found changes in the plec gene, it was through a research based program so we didn't have to pay an arm and a leg for it. It was also done on Lua, so now with Sol, and that he is still with us, we were able to clinically test the plec gene and what they found was that the change in the plec gene was actually in the intron part of the DNA not the extron. There was a lot of explaining going on, but basically if I understood right, they aren't sure what the introns part in genetic conditions are so when they do studies like this they dont count the intron as being the cause, only if it is on the extron. What that means is, they came to the conclusion that the plec gene IS NOT the cause.
Now if you read the past posts, we were excited that at the muscle clinic they strongly believed it was the plec gene, and they had two doctors currently working on the plec gene, which meant possible gene therapies....... So nevermind all of that.... now we are back to square one. The condition my kiddos have remains undiagnosed. This even comes after they did another genetic test looking at neuromuscular conditions. Those results came back not too long ago and they did find a change on two genes that could be responsible, but there was only one change on each of those genes, one was Titin gene, the other I can't remember off hand but either way they don't really believe that either of those are the cause. I remember the titin because what that showed was dilated cardio myopathy which if this is true, he may have heart issues later on but thankfully we are already watching his heart and he will have a full work up on his heart later this month. That doesn't explain the rest of his condition though.
It is so very frustrating, with out a reason for the condition, a cure or help is just that much further away. Currently we are going to try to enroll in a program that works with people who can't be found a diagnosis, if we get chosen for that then a scientist would work with Sol in hopes of finding what gene was changed. It will be a long process, I have no expectations of finding out what he has anymore. I thought we were really going to be able to figure it out, but there are too many unknowns. Too many genes they haven't learned enough about, and not to mention part of me still thinks there may have been an environmental factor at play with Lua and Sol, although the geneticists don't really think that is possible but they aren't saying it was impossible either. By environmental I don't mean like smoking or drinking or some other type of ingested abuse or what not, but the place we were living at the time when Lua and Sol were both conceived. What we do know, is it is a type of myopathy and we will continue to treat it as such. We don't know any thing long term, just go day by day and hope for the best!
