Discussions By Condition: I cannot get a diagnosis.

2.5 yo, carnitine deficiency, muscular dystrophy, hypotonia, dislocated hips, what?

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: kds228
  • June 17, 2008
  • 08:47 PM

I have a two and a half year old son who has had physical problems since birth. He has been diagnosed with Congenital Muscular Dystrophy and Carnitine Deficiency. The doctors really don't know where to go now. CKP test was 311 at birth, has now normalized. Other tests that had a negative result are Prader-Willi FISH, MRI (brain and legs), EKG, CT, numerous genetic tests, skin biopsy for octn2 gene, and muscule biopsy (all proteins present). He is a very bright little boy. He said his first word at 4 months. All milestones are on track except gross motor. He sat on time, crawled at 1 yr, beared weight at 18 months, started cruising at 21 months, and just kind of stopped there. He started taking Carnitor for the carnitine deficiency and we saw immediate results in the upper body tone, but lower body never came around. He is on canes and is doing ok. He was recently diagnosed with bi-lateral hip dysplasia. Yes, he is two and a half and x-rays showed it at birth. The dr.s never followed up on it and we were never informed until Feb. of this year. Ortho. says he wants him walking before surgery. He is far from walking. He has the classic gower's sign. He can't even stand completely upright. Does any one have any suggestions on a real diagnosis, or any thoughts that could help us on our journey? Even the dr.s are questioning the MD diagnosis. We don't know what else to do. Please help!

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  • I dont have any answers for you but just want to say my heart goes out for you and i really hope you can find the answers for your little boy. My own child (she's 17 now) was born with a rare condition.. "caudal regression syndrome" and doctors werent no help at all, (other than fixing deformaties she had in her feet). A chiropractor taught us physiotherapy which was orginally designed for brain damaged children (cross crawling exercises).. which helped her learn to coordinate her legs to be able to crawl (she was about 18mths old at the time when she learnt to crawl), and hence then later on to take her very first steps at 2 and a half years old with a cane. Her own father made the walking canes for her (she was too weak in the legs to be able to hold herself up by herself otherwise..and she needed them for balance). Neuro specialist told us she'd NEVER walk cause of her nerve state.. while her doctor and physiotherapist at hospital kept saying "she's fine".. and offered no help. Later on, at about 3 yrs old.. the hospital allowed us to hire a walking frame and that was MUCH BETTER than the canes/walking sticks..but before this.. we had to do everything off our backs with no help from doctors.. if we'd left things to them.. i think she'd be permanently in wheelchair instead of walking today. Anyway.. just know my heart is going out to you. You will appreciate your sons achievements far more than parents with able bodied children. Each small achievement.. is huge. Has walking frame been considered instead of canes??? A child can balance better and lean more on a frame. I dont know where you live.. but in many countries there is a lot of support for disabled children and free services eg therapy etc. My daughter had years of weekly free therapy throu a special service. Doctors sometimes dont tell one about all the help there is out there. It pays to find out what is out there in your country.
    taniaaust1 2267 Replies Flag this Response
  • There are many types of carnitine deficiencies. *Please* find a very good geneticist! S/he may be able to help you sort it all out. You can search for syndromes associated with carnitine here: http://www.ncbi.nlm.nih.gov/sites/entrez
    aquila 1263 Replies Flag this Response
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