What is Hypotonia
Hypotonia is a condition of abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is not a sp...
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Next step in finding diagnosis?
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Wondering if anyone on here can help me figure out where we should go next to get a diagnosis for my son Luke.
I put our story on here awhile back, but I will summarize in this post. My son is 23 months old and has been in PT since May for hypotonia in his trunk and legs. He is not yet walking, can stand while holding onto something and can kind of cruise/shuffle along furniture. His ankles and knees are loose, so he will be fitted for braces in the next couple of weeks. He learned how to crawl a few months ago, before that he "butt scooted". He rolled over and sat unassisted later than normal. His fine motor skills, eating, and cognitive development are normal/above normal. He also has suffered from constipation since we started him on solids around 6 or 7 months old. He is on Mirlax for that. We have seen a neurologist who ordered an MRI of the brain and spine. Both came back "normal". His white matter was a little less than normal, but this could be from his dev. delays. They also did a number of tests from blood and urine samples. Everything came back negative/normal except for his vitamin B12, which was a little low at 281. He is taking a B12 supplement for that and will be rechecked in a couple months. The only other tests that can be done are 2 more genetic blood tests to check for less common dystrophies (limb-girdle & FSHD), and a muscle biopsy. We are holding off for now on those since the physical therapy is helping and Luke is showing more strength and improvements. We are wondering if anyone has been through a similar situation. I am considering doing the extra blood tests since I found out from my mom that twin boys a few generations back on her side had some form of MD. I don't have any specific information about them though. As a lot of you can relate, we are completely frustrated and would like some answers. I am just hoping that my son will someday be able to walk and have a "normal"life. Any input is appreciated! Best of luck to everyone on here, I hope we all get the answers we are hoping for:) Thanks, Tilly redefiningmommyhood@gmail.com http://www.redefiningmommyhood.com Posted on 10/24/09, 01:10 pm |
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tilly
the waiting is excruciating my son is just a month or so younger than yours and the whole thing sounds very familiar. his mri was normal and the genetic blood testing is looking like it is not the cause for his delays either. his dad and i just got our blood tested recently and await any significant information. he does have some atypical genes but if we have them too then it is unlikely that genetics is the cause of anything....... im getting less interested in the 'why' of his condition..... the therapies have been the most influential thing in our lives, mostly from the support it offers from professional people who can relate to me and my son. i dont feel lost anymore and i feel a sense of normality is returning to my life with regards to how i can verbalise his behaviour to others and share my understanding of hypotonia. however, i understand a yearning to know the answer to 'why is all this happening to us?" and for myself i go back to his birth and my son did have an infection that gave him pneumonia at 30 hours. having read more about this critical time i do think to myself that this is why he is developmentally delayed. his blood was cultured at the time for group-b strep since i was positive but nothing was conclusive in the results......... if it helps your peace of mind do the bloods but be ready for it to be more of the same good luck with your decisions. ali 
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