Well, the genetic results weren’t exactly what we’d hoped, but I wasn’t surprised. They did not identify what genetic defect is causing Grayson’s disease. What they did show was a LOT of mutations and “Variants of Unknown Clinical Significance”- meaning, not normal, but haven’t been studied to see if they cause disease or not. Some of these mutations are associated with diseases, two of them being Leigh’s Disease and Muscular Dystrophy.
At this point, we could do further testing on the specific mutations, and we may. Grayson’s neurologist did order one test to rule out a specific disease (I don’t even remember the name) but seemed ambivalent about other testing. And right now, I’m kind of ambivalent too. We know Grayson has Mito, it’s not curable, and we’re managing it. I’m just kind of tired of waiting on test after test, which always just seems to lead to more questions than answers. When we see the Mito specialist when she returns from maternity leave, we’ll see what she has to say about further testing.
Ryan and I will be looking into genetic counseling. I told Dr. R I am pregnant and he said nothing on Grayson’s results will tell us anything about our baby. But he definitely thinks we need to get genetic counseling. I have no idea what that will entail and what testing we will have to do, but hopefully will give us some insight into our situation.
Besides the genetic results, I had a lot to discuss with Dr. R. I told him about Grayson’s irritability and sleep issues, and when he examined him, he noted how stiff he is and how his clonus is worse than his last appointment. He has also started scissoring his legs, which is not good. There’s 2 options to treat spasticity (hyper muscle tone/stiffness)- muscle relaxers and Botox. We don’t want to do muscle relaxers right now because they don’t target specific muscles and could have a negative effect on G’s progress. So we are going to try Botox. It will be injected into his legs and the effects last about 3 months. Dr. R also ordered another EEG because he suspects his irritability and sleep issues may be caused by neurological disturbances/seizures. Sigh. We do the EEG in two weeks and will schedule the Botox when we get it cleared with insurance.
Dr. R also wrote a prescription for us to get a handicap licence plate. He pointed out that not only do we need this because of Grayson’s lack of mobility, but because he has Mito, he needs to stay out of the heat as much as possible, and this will help a little with that.
Overall, it was a good appointment and I’m glad we finally know, after 20 weeks, what that tube of blood showed. Although basically what it showed is medical science has a long way to go in understanding this disease!
Ugh – this medical science stuff is confusing! I was hoping, along with you I'm sure, that you would get some more clear answers than that. Genetic counseling sounds like a great idea. And woohoo for a handicap license plate! Smart.
oh Man! We have been so anxious to hear the results too! Bummer … I'm sorry!
So sorry it is still vague, that was a lot of waiting for not a lot of info. :o( Perhaps the Mito specialist can shed some more light in "normal people terms"?? Thinking about you all!
It must be frustrating not having a clear answer, but glad you are moving forward with the Botox.The handicapped plate is a brilliant idea.
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I'm so sorry Elizabeth. I don't think that it's what everyone is dealing with just because Mabel now has an official diagnosis, but HAS he been tested for NCL's? Just curious. Thinking of you guys constantly…Oh and that was me posting as Daniel above. Sorry:/
That has to be tough to wait so long for answers and not get a great explanation. I pray for your family all the time and feel such love for your little guy even if we've never met! And I haven't gotten the chance yet to say congrats on the baby!!! I am so happy for you!!!