3yo undiagnosed ataxia

Hi, I've just joined this community. I have a 3yo daughter with global developmental delay and mild hypotonia. since she was a baby, whenever she'd have a fever we noticed that she was unable to hold her head upright. it would fall to one side or hang down like a newborn baby. she started crawling and sitting at 13mo, walking at 2y and 7m. her walking is very clumsy. she doesn't have a wide base but she never walks in a straight line, always kind of wobbly. she falls A-LOT!!! she used to fall every few steps, now she only falls every few minutes. if she's just getting out of bed in the morning, she falls as soon as she starts walking. Whenever her fever goes up - the ataxia gets worse and so does her hypotonia (cannot even sit unsupported if the fever is very high). doctors have taken metabolic tests recently, at the time she had a fever and ataxia got worse. We are still waiting for the results but her neuroligist is suggesting she has episodic ataxia.

Anyone here with episodic ataxia who can tell me a bit about it? does the ataxia/clumsyness appear between episodes? can it start from birth? does it usually involve global developmental delay?

I'm not sure this doctor is right, the ataxia is there all the time but she is somehow managing it. when she's sick - all compensatory strategies are lost.

is there anything we can do to help her? so painful to see her falling so much :(

9 Replies

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  • Hi Ritaa

    Have you seen a paediatric Physio or OT at all ?

    They may be able to advise re strategies etc e.g. weighted or Lycra garments can sometimes help older children and adults - don't know about little ones. OT may help with arranging the environment etc .

    Wishing you and your daughter all the very best

    God bless

    Diana

  • Hi Diana,

    she's been going to PT since the age of 4 months, OT since she turned 1 year old and also did some speech therapy between the age of 2 and 3. We were never offered any garments for support. When I consulted her PT about using an abdominal binder she did not think it was a good idea. I will ask her again, perhaps some proximal support will help her.

    thanks :)

  • I have hypotonia as well??Or floppy muscles??You lovely lady with a little girl you are helping ❤️❤️😊😊Makes me realise I am really great full this didn't happen to my son a child suffering is harder for a parent than any of us let me know how you and your little girl get on I really

  • Hi my story sounds a lot like yours, I posted the below.

    My son also has GDD, and whenever he is unwell his balance always seems worse. He also has a very mild/subtle tremor.

    Hi My son is 4, and has an 'Ataxic gait', but he has no diagnosis.

    He has had lots of tests (2 MRI of brain & spine, lumbar puncture, ataxia gene panel, chromosomes, bloods etc) all which are normal. We are running out of things to test, we are awaiting the Genome 100k clinical trial which takes years. He is under a team of specialists (paediatricians, metabolics, neurologists, genetics) He receives speech therapy, physio, hydrotherapy. We are awaiting a referral to the balance clinic at great ormond street.

    His history: We did have a difficult birth, but all was well, aside from colic & reflux.

    He met all his milestones until the age of 1, he had several bad viruses and was unwell.

    I noticed his development plateaued, and at 18 months when he wasn't walking we took him to the GP. thats when all the tests started.

    He finally walked on his own at 33months, and after a slow and steady time he is now doing well. He is making great progress and now walking unaided, he is just very 'wobbly' and falls alot.

    He had two small holes in his heart (PFO & VSD) which have now closed.

    He has hypotonia, hypermobility, brisk reflexes.

    He has a mild speech delay.

    He has Strabismus (eyes turn inwards)

    I cant ask for more, in terms of his progress, the therapies and help he receives, and the doctors trying to find a diagnosis. He even receives DLA for high mobility.

    But for me, Id just love to know, so we can find out what caused this, a diagnosis and prognosis!

    So, does anyone have Ataxia without a diagnosis?

    Thanks x

  • our children's stories have a lot in common. Only, my daughter was not meeting any of her milestones on time. She was different from her older sister from day 1. As a newborn she would sleep almost 22 hours a day, started crawling and sitting at 13 months, walking at 33 months etc. We did not have a bad virus that changed things, she was born this way.

    I hope your son keeps progressing while you wait for the doctors to figure it out. We too are waiting for them to give us a diagnosis and prognosis.

  • This sounds like my daughter, she has global development delay, hypotonia, ataxia, when she is unwell she can not sit up, the neurolagist has said it is an episodic ataxia, (although she is still very wobbly and unstable between the periods of being unwell) but it does get significantly worse when unwell, with a high temperature. She has a mutation in her snc8a gene which was only discivered through a university research studt Deciphering Developmental Delays (DDD) study.

  • It does sound almost the same ad my daughter... were you told about any possible medical treatment for your daughter? I mean, you know what gene is causing this but did they give you any informtion about prognosis (progressive or not) and treatment (how to make her less ataxic)?

  • We have tried 2 different medications the first didnt do anything, and the second made her symptoms significantly worse, (like she goes when she is unwel) so i decided that since she was managing with day to day life ok, then i wasn't going to try any more medication. Have had no information at all, as none of the doctors have ever experienced anyone with the gene mutation. apparently its not written up in the medical literacy, its completly new to the neurolagist, the geneticist and everyone else she has seen.

  • wow... I find it frustrating that doctors spend so many years studying and are still unable to help sometimes.

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