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A week away from possible diagnosis!
Hi everyone,
My 8 yr old son, Adam, has been undergoing tests for the last 3 yrs to ascertain why he has so little muscle bulk and strength. He’s been tested for cystic fibrosis and food allergys, he’s had countless blood tests, which do show a slightly raised level of muscle building enzyme, and 2 MRI scans all of which have shown nothing conclusive, and has had to undergo serial casting for 6 – 8 weeks a year to stretch his ankles to enable him to stand flat. About a year ago we saw Dr Elizabeth Wraige at the Evelina Childrens Hospital and she instigated further tests. She noted that he has rough skin, which I thought was the remains of the eczema he suffered as an infant, but apparently can be a symptom of a collogen 6 deficiency. Adam then had a nerve conductivity test which showed that the nervous impulses were getting to his muscles okay, he had a muscular MRI which showed an abnormality in the construction of his muscles, and he had a skin and muscle biopsy on 26th April, which we are getting the results of on 1st December. We have been told that there are 3 possibilities, Bethlem Myopathy, Central core disease and Ullrich…. something, or the tests could, of course, come back inconclusive!!
Through all of this he has remained completely positive, he never complains about not being able to get up the stairs without pulling himself up the banisters, or up from the floor without climbling up something. He carries on at school as if nothing is wrong and has a lot of friends that stand by him and help him. He never says that he can’t do something and always has a go. We have decided that he’s our “bumblebee”, nobody has told him that he shouldn’t be able to do certain things and therefore he justs keeps doing them
My problem is, that the closer we are getting to having a diagnosis, the more worried and stressed I am becoming. Part of me wants to know so that we can do what is best for him, but part of me would rather just carry on as we are!Can anyone offer any advice to help keep me sane,
Re: A week away from possible diagnosis!Hi Adamsmum, just wanted to let you know that the Muscular Dystrophy Campaign has a dedicated helpline offering support and advice if you feel you need to speak to someone on the phone. 0800 652 6352 (freephone).
I can completely understand how you have mixed feelings about Adam’s possible diagnosis. There’s a section on our website about diagnosis. I hope you’ll find some of the information there helpful.
Take care,
Sam
PS. really like “bumblebee”.
Re: A week away from possible diagnosis!Hello Adamsmum,
I know exactly how you feel. My son is 11 and has been having tests for almost two years, no complete diagnosis as yet. Bethlem is a possiblity, he like your son has problems with stairs. My son crawls up them and goes down on his bottom if no-one is about. Finds it hard to get up from the floor and get down, walking far is a problem. He is also a positive person and he doesn’t get down about it, keeps me positive knowing he is coping, happy and has good friends. I don’t know how long it will be before we get a diagnosis, doctor refers to his condition as Myopathy.
I want to know what my sons condition is but am also nervous because it will make his condition very real. It took me a long time to bring my self to say out loud my sons problems, just could not accept it, still find it very hard.
Let me know how you get on and good luck, your son sounds lovely.Re: A week away from possible diagnosis!Hi Ketty, I’m new to MDLinks and have just read your post. Has your son been diagnosed yet? Our son is 11 and 3 years ago was diagnosed with Ullrich CMD. Your son sounds very similar to ours and I was just curious to know if he had been given ‘
a name’ yet? i would love to hear from you x
Re: A week away from possible diagnosis!Hi
I am Dans mum. Dan is 2 and was born with hypotonia and torticollis. He is now walking though falls a bit and has little upper body strength. He can pull himself up and can bump downstairs but can’t get up them without help. Dan had a muscle biopsy in Feb and the consultant told us in March it is showing a collagen deficiency and is likely ullrich or bethlem.I would love to make contact with any other parents of children who have similar conditions.
Debra
Re: A week away from possible diagnosis!Hi Debra
I have a probable diagnosis of Ullrich CMD and there is a yahoo group for people and families affected by UCMD and Bethlem. Many members are parents – mostly from the US but there are members from all over the world including quite a few from the UK. Look forward to seeing you on there at some point.
Also, you can read the stories of people with a number of conditions that fall under the CMD umbrella on the curecmd site and view videos on their youtube channel.
http://www.youtube.com/user/CureCMD
Welcome to the forum
Best wishes
SarahA learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams
Re: A week away from possible diagnosis!Thank you Sarah. I will certainly check out the yahoo forum and websites you mention. I appreciate the welcome and the advice.
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