CMT genetics results | 4 yr old and 1 yr old results
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- Опубліковано 6 вер 2024
- We finally got the results back from our genetic test done on our 4 yr old and 1 yr old.
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Hi, I stubbled across you page looking for more information on CMT. My daughter is meeting all the Markers for CMT. And has to see a neurologist and Genealogists next month. I would love to ask you some questions if possible!? She has been in PT since she could walk. She hasn't improved any and this is our next step along with leg Braces. I'm not sure what yo expected and how testing goes.
Hi! I am more than happy to answer any questions you might have. I'm assuming CMT runs in your family history? We have been through numerous testing as well as all kinds of PT from our 16 yr old all the way down to when my twins were about a little over a year so any questions you have I am more than happy to answer. As far as testing, back in 2013/2014 is when we first had testing done. We had to all have blood drawn to be tested and it was a bit of a difficult process bc they had to take quite a bit of blood to be tested. I was even tested as well. It took a few weeks for results. Fast forward recently when we saw the geneticist for my youngest two, I was expecting a blood draw, but it ended up being a mouth swab which was 100000% better than the blood draw. I'm not sure if it was bc we already knew the exact type of CMT that needed to be tested or not. It takes a few weeks to get results and I think that is probably the hardest part. Depending on where you live and where the hospital is located that you will be seen at is also so important. We are a military family and in a small town so we have to travel between 2.5-4 hours depending on the hospital we are seen at.
Leg braces were a game changer for my oldest son. He got his AFO's when he was 12, he probably should have had them a year earlier than that. Stretching was an absolute must and we even did some yoga together to help. The worry that I always had with leg braces is that he wasn't able to exercise his calves while wearing them and bc CMT is a progressive disease we had to do our best to exercise those muscles when he wasn't wearing his AFO's. It's like a rock and a hard place bc you want your child to have stability but you also want them to work those muscles they still have.
I will be honest and say that when my oldest got his leg braces I was optimistic that just stretching and yoga as well as exercise would be the only thing we would need (along with leg braces) as long as we were consistent. He was adamant that he didn't want surgery. He was terrified. I think we were both a bit naive bc by the time he turned 14 (2 years ago) his feet got so much worse. We were putting crooked feet into a brace that wasn't helping him. He was walking on the sides of his feet and he finally said he wanted the surgery.
Idk the type of CMT your daughter has or if she walks on the side or feet or if it's just a severe foot drop problem, but depending on her age and severity of CMT you will most likely be given options that include surgery. Surgery was always a last option for us but it was something we ultimately did. My 9 yr old twins aren't affected as badly as my 16 yr old so we may not need to go that route.
I apologize for droning on so long. If you have any other questions or I didn't answer what you asked then let me know. Also, before seeing any of these doctors my advice is to write down as many questions as you have to ask them bc it's just so much information to remember them off the top of your head.
I hope I have been able to help in some way!