Daughter with unlabelled ataxia

Hi,

I have been a member of this forum for a few weeks and have reading the posts with interest and compassion. Back in november my daughter was diagnosed with what was thought to be episodic ataxia type 2, however, the genetics have come back normal so we are now in limbo.

She is 6.5 years old and first presented when she jumped into a swimming pool at school and was unable to swim, she then developed a terrible headache and look dreadful. Next day all of a sudden she couldn't coordinate to write and then developed a headache. After that things escalated with lots of different symptoms including spasms in an arm or a leg and also multiple episodes of acute confusion which were incredibly distressing. She is now on a maximum dose of acetazolamide and for 2 weeks she had no episodes but she had an episode of ataxia today. Does anyone have a child with similar symptoms and no diagnosis? We just don't know what the future holds.

Thanks everyone,

Becs

6 Replies

oldestnewest
  • Hi Becs😊

    This immediately brought something to mind for me, although I'm hesitating about mentioning it....

    So anyway, I know an adult who is adamant their symptoms first appeared after being in a swimming pool.

    It's possible that your daughter has a recessive ataxia, perhaps one that hasn't been

    identified yet. Mine is recessive, my parents were unaffected carriers, so there's no family history. I only found out because I donated DNA for research. 😊xB

  • Thank you, we are awaiting a second opinion from great ormond street so we will see what they say. Best wishes to you. Becs

  • I am officially in the same situation: That is my 17year old daughter is still undiagnosed and her exome sequencing test is still pending after 20months. In research as I am a health care professional myself found out that there is at least one other condition that may cause ataxia or other forms of neurological disorders It is called CFD in short for cerebral folinate deficiency this is a condition where the brain lacks folinate. This can be identified by mthf test from csf. if this is confirmed your child might be helped by Calcium Folinate supplements. But this can only be identified and confirmed by your GP Good Luck may god help you in your situation.

  • Thanks very much. I too am a healthcare professional and have done a lot of research!! But not come across your suggestion so I will look into it. All the best for your daughter. Becs

  • This link gives interesting information😊 Well worth a look😊

    ataxia.center.umn.edu

    The University of Minnesota Ataxia Centre

    One of the headings is ' Common Causes of Sporadic Ataxia Secondary to an Underlying Disease'

    Interestingly, it confirms ataxia can be caused by exposure to environmental factors.

  • Thank you, very interesting reading.

You may also like...