I got a big high five and a way to go for pushing them to do the genetic test. Which in a way made me irritated. If you notice something is wrong with your kid, pain, visible differences and the like wouldn't you, as a parent, pursue an answer? I mean he complains a lot about his legs, he tremors like he has Parkinson's, walks like an old man..... Who wouldn't push for answers? Anyway...rant over.
I met with both the NP and the Doctor so they explained a lot of things and made connections to the 15q11.2 microdeletion. Cognitively they think he is on track, as does school. Both MRIs where negative for brain injury, CK numbers look great, so they don't think that muscular dystrophy is an issue. His issues are the tremors, severe hypotonia, and gait abnormality. Which are not neurological in nature. I asked again about Elhors-Danlos syndrome and they think not. I still think maybe....He has many symptoms of ED except dislocations. Because he has zero strength he hasn't done anything yet that would cause a dislocation; I feel that as he gains strength and muscle, becomes more confident and physically independent, dislocations could start. (I got my MD certificate at Google.com, so I know these things.)
Later this month he will be having an in depth Echocardiogram on his heart. Seeing as the heart is a muscle and he has muscle issues. Because of the 15q diagnosis they are confident that OT and PT will be covered by insurance!! Huge answer to pray here. We need to keep an eye out for seizures. If we think he has another one than video record it so they can see what we saw.
Come back in 6 months and if everything is still statuesque, we can cross neurological visits off the calendar.
The boys are so different as to how this 15q has affected them. We talked in length about this too. Where ever the deletion happened and the amount of missing information plays a huge role in the affects on the person. Grayson can climb a tree like a monkey, Landon struggles to walk up steps, to Benjamin having ASD. Landon's deletion has manifested itself in the muscles. Benjamin through ASD and various learning disabilities, and Grayson through learning disabilities and his temperamental nature. They also said that the boys could have gotten it from either or both of us. So much for me being perfect!
Mary Free Bed has him wearing his orthotics differently. They feel that because he walks with his knees bent that his legs and knees are suffering. Of course these are $1,500 orthotics that are less than a month old; so a follow up in 3 weeks to see if this fix helps. If so we will bide our time till he outgrows this pair, then the next ones will be way higher on his legs forcing him to walk the correct way.
Time will tell.
1 comment:
Ok so now I want you to apply for CSHCS. Even if you have your own insurance. They help pay co pays and for things not covered by insurance or what is left over. You should qualify with a diagnosis. They help pay for braces too. You may be able to get it for all your boys seeings they all gave the same thing. I can help you with info if you need. As for learning from Google to get your me!!! Haha. Be careful what sites you take info from. There are trusted sites to learn truthful things. Use more than one site like the NIH or A children's research hospital or something that is trusted. More times you'll find a difference in opinion on the same thing from different researchers. As for symptoms, it is try that you'll find many many syndromes, muscular diseases, or dystrophy switch the same or symbol at symptoms. So narrowing in on one you read about may fit but doesn't fit the genetics testing. We experienced that also when Natalie was little. So many things had the same symptoms but every test came back negative. So all they knew about was being checked for and NON were found until the muscle biopsy. Then months later they told us it was something rare that had like no info and two sentences in the Medical books.... Saying something in the idea of there is no Hope! Well 14.5 years later with much research there is more info. More awareness and more Hope! They are still learning and coming up with new meds to help etc... If I would have had time to learn more back then or computers were used like today I may have been devastated to read what I read after she was 4. Because she was suppose to die before she was one, then if she didn't, for sure by 3... Well we kept working hard to treat the symptoms and try to gain strength and balance and here we are 14.5! So I believe their is always Hope! With you as a mother willing to give it your all to step up and fight to push forward and keep going! Encourage encourage encourage ! Thanks for the info and sharing your blog!
Post a Comment