We have a 12 yearold son who started to slowly become clumsy in his walking ability around 6-7 years. At 9 1/2 years he was finally assessed by a neurologist , had a brain MRI which showed a white matter change in the middle part of cerebellum. Further testing has revealed no results. All other test are normal including Lumbar puncture , blood tests, bone scans and further MRI have shown insignificant change in his cerebellum. However his clinical picture has changed and he is generally weaker and often using a wheelchair to get around at school now. His upper body is less affected than his lower limbs. He was involved with a research study by M Van der Knapp in Nederlands but nothing was proven in the study results. Cognitively he is a bright fellow and there has been no change in this area thankfully.
Does this picture ring a bell with anybody out there?? We have come to accept we may never have a diagnosis and concentrate on allowing him to enjoy each day within his limitations. It is not an easy road but we have some wonderful help along the way , lots of challenges and are supported fully by our christian faith.
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unidentified leukodystrophy cerebellar
- By Andy12
- Posted March 4, 2009 at 6:03 am · 2 replies
- In Undiagnosed - White matter disorders of unknown origin (UND)
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- By JOSHYSMOM
- Posted March 15, 2009 at 9:29 pm
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My son was diagnosed two years ago with hypomylination with atrophy of the basal ganglia and cerebellum. It took about 3 years to find out what it was. Dr Van der Knapp diagnosed him. It is hard when you don't have a name, but then they give you a name and your still in the same boat, watching your child struggle. Thankfully the Lord watches out for his special children, and for some reason they always seem to be smiling. I know my little guy always is. I pray you will find out what is causing your son's condition and I pray for a cure for all of our children. With GOD all things are possible!!! I to am a Christian and Jesus really does carry our heavy burdens! GOD bless you and your son-
- By Andy12
- Posted March 17, 2009 at 8:09 pm
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Thank you for your kind words and prayers. We too are Christians and the challenges we face with our child have been made bearable and even rewarding through our faith in Jesus. He does carry our burdens if we let him. I think sometimes not having a name is good as he doesn't get boxed into any outcomes We try and enjoy and maximise his enjoyment and participation of daily life . There are lots of challenges ahead but we try to focus on the near future and not worry about what could be in a few years time , because we just don't know. I think your comment about having a label doesn't change much is pretty spot on. There is so little they can do at this stage of medical knowledge but with God all things are possible and just maybe someday there will be some break through. So many more high profile diseases get funding for research but the rare diseases struggle and there is still so much medical knowledge doesn't know and can't fix. God Bless and all the best with your son and his care.
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