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Diagnosed with hereditary spastic paraperesis and progressive leukodystrophy.

Hi, my 5 year old son has been awaiting diagnosed for 2 years, after every test imaginable he's been diagnosed with hereditary spastic paraperesis and progressive leukodystrophy. He was fine when born, then started falling A lot around 18months old and regressing with speech and movement ect. He now requires an occasional wheelchair and has an intentional tremor, he needs thickener in he's drinks, regular physio and needs a protective helmet as he falls a lot, he's arms and legs are very stiff. I wanted to know if anyone knows of anyone who has both of these conditions and the outcome/prognoses. I spoke to the doctor on the phone who told me about the test results, didn't tell me what gene ect, and he said the prognoses isn't good and to wait until we see him, I'm waiting to see him in two weeks. Any info would be appreciated xx
Replies
HSP does have a genetic link and affects the long nerves in the spine causing them to deteriorate which leads to weakness and stiffness in the muscles particularly leg muscles. The condition is also sometimes referred to as Familial Spastic Paraparesis (referring to the genetic link). As mentioned, it mainly affects the lower body and symptoms often start appearing in the teens or early adulthood although they can appear in younger children. Other symptoms may include fatigue and incontinence.
There is no cure for the condition but treatments can help the symptoms. I would think the regular physio would be beneficial to your son. Generally many people with HSP live relatively independent lives.
Leukodystrophy also has a genetic link and affects the central nervous system and the myelin surrounding and protecting the nerves and neurones in the brain.
Another similar condition is Progressive Supranuclear Palsy (PSP) and the diagnosis of these conditions can be very confusing for parents.
For more information on HSP try http://www.rareconnect.org/en
Information on Leukodystrophy - www.ulf.org
Information on PSP - http://pspassociation.org.uk
I hope this is of some help.
Are you getting any help from either Health or Social Services? Have you and your son had an assessment of your needs for example the level of care you son needs or any equipment he may need. Do you get help with nappies? Are you getting any benfits? Hopefully when you next see your son's Consultant, he will be able to give you more information about the prognosis. You may also find it useful to contact an organisation like Scope or Contact A Family to talk through what support may be available to you.
Best wishes.
Hope you're okay.