Is anyone else on here with a family history of Episodic Ataxia, who's symptoms began in infancy?

[tynckas]

I have had EA2 & Familial Hemiplegic Migraine since I was around 3 months old..... (although was't diagnosed until adulthood) my daughter also inherited it with symptoms noticeable from birth.... Her daughter (my granddaughter) is also showing symptoms from birth (she is now 5 months old)

My Granddaughter had her first appointment at Great Ormond Street yesterday, and although they have to rule out a few other things, doc basically said this is a matter of formality.... as they are expecting to give a diagnosis the same as her mother & I .... but many docs keep saying this shouldn't show in young babies.... but we have 3 generations now proving them wrong.... ( my daughter & I have a private gene)....

[moonstonebright]

my daughter had problems we noticed from 11 months when she pulled herself up on furniture but didn't progress to the next stage of walking until 23 months and was really wobbly, falling often and that continued She was eventally diagnosed with SCA at 3 but thdy weren't sure which type because the tests weren't conclusive. She was treated eith Acetazolomide as it appeared to be episodic but that made her really poorly. Further tests ruled out freiderichs etc and they told us it was heriditary by her dad and I both carrying the gene. MRI scans showed atrophy if her cerebellum and spinal cord and it gas continued ti progress and if course there's no cure but the docs still don't know which type she has as many of the types still don't have tests available! She therefore still doesn't have a definitive diagnosis of the type she has and she's now 16. She is still able to walk with her stick a little but needs a wheelchair after approx 100 yards, less on a bad day. Her cerebellum continues to shrink and she has lots of pain neuropathically. Hopefully further tests will be developed but it may be too late for her. I don't know if our story helps at all? best wishes April

[tynckas in reply to moonstonebright]

Hi April,

Thank you for taking the time to reply... It certainly does help...

The docs are making progress all the time.. so hopefully they will come up with something to help our families.

my daughter and I didn't have MRI scans early on, so don't have anything to compare.with. but my granddaughters MRI had changes, but the doc wants to do a few more tests before discussing further.....

We just have to wait now for the appointment.

Thanks again for getting in touch.

Dawn

[moonstonebright in reply to tynckas]

Hi Dawn, let's hope they find out how to help our loved ones soon! best wishes April x

[pennypoop]

I was diagnosed with FA at 4, but upon advances in genetic testing I haven't got the gene, nor the gene for any other found, so 33 yrs later still have no name! Balance, coordination and hearing are my main probs, but the ataxia is not my biggest prob, its my digestive and gastric tract which is causing life affecting issues.

[tynckas]

I hope you get the answers you want / need soon x

[Mariagg]

Hi! How is you even granddaughter and daughter doing? My son wasn’t diagnosed with episodic ataxia at around two years old through genetic testing. It’s a de novo mutation. My husband and I don’t carry the mutation. Can you please tell me if the ataxia hasn’t progressed or just remained the same?

Thanks