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?