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Undiagnosed ataxia-like condition

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jazzone
jazzone Community member Posts: 1 Listener
Hi there everyone.

I'm posting on behalf of my sister who three years ago suddenly developed a severe loss of balance (she is unable to walk or stand upright unaided) and slight impairment to her speech. She had a similar, less severe instance of the same thing a few years before that from which she recovered. All blood/lumbar puncture tests have come back normal with the samples having been sent worldwide to try and identify the presence of any known conditions. The only irregularity is a thinning of the brain stem as noticed on an MRI. She is 35 years old and has a history of eye cataracts at very young age, essentially a birth defect that could somehow be connected. One of her eyes is also wobbly (from from her vision perspective).

She is really struggling day to day to come to terms with this as yet unknown condition, with months of physio appointments also appearing to have little effect and the doctors are distant and seemingly at a loss.

Apologies for the lengthy post, I hope it's ok on this forum. I wondered if anyone has been or is going through anything at all similar and if so, any thoughts and advice on your experiences would be very greatly appreciated.

Thank you :)

Comments

  • chiarieds
    chiarieds Community member Posts: 16,177 Disability Gamechanger
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    Hi @jazzone - welcome to the community, & thank you for joining on behalf of your sister. As a Mum, I went through exactly the same thing, only different, when we were told by our youngest daughter's Neonatal Paediatrician (who was incredibly good) that there were only 8 children like her known in the world. The disorders she suffered from I later found out many years later weren't that rare, yet poorly understood here in the UK, or should I say they are way better understood in the USA.
    From what you've said, & from my personal experience, it sounds like your sister may have ataxia, & possibly dysarthria (where speech can be affected), & nystagmus (where your eyes 'wobble'); both my son & I have this at the end of our lateral gaze, as identified by a neurosurgeon.
    As a long retired physio with a life time interest in neurological problems, which is just as well as myself, children & grandchildren all have a genetic disorder which includes neurological problems, I would say it can be difficult to find the right specialists with poorly understood disorders.
    I haven't come across the term 'thinning of the brainstem,' so am unable to comment on this, but the above sound more like problems with that part of the brain known as the cerebellum.
    I wish I was up to date with the best places to ask your GP/specialist to refer your sister to, but would consider The Walton Centre in Liverpool: https://www.thewaltoncentre.nhs.uk/   or The National Hospital for Neurology and Neurosurgery in London: https://www.uclh.nhs.uk/our-services/our-hospitals/national-hospital-neurology-and-neurosurgery
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