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Ataxia Support Network

New , Undergoing tests for EA1 mutation


#1

Good evening

Quick intro to all

Im Haylz , I have an Aunt and a Cousin ( not her child) both on maternal with EA1 mutation my mother has suffered for years and just tried to get on with life but since my auntie was diagnosed 3 years ago my mom decided to get help and now is awaiting results.

I have suffered with migraine since I was young and been on many medications on and off in the last 6 months ive started having strange symptoms that have not eased and have no explanation for, so went to see my GP and as soon as I mentioned Ataxia was sent for an MRI this has come back clear and after a discussion with a neurologist today blood has been taken for genetic tests to be done as because of the strong family history this is a big possibility.

So just a waiting game for me

thank you for having me

Haylz


#2

Hi Haylz, welcome :slightly_smiling_face:
I’m suspected of having EA, although as yet no definite type has been proved. I live in the UK too. Currently, no-one else in my family has symptoms, and there’s no family history, so chances are that the type may be Recessive, and also possibly a mutation.

I also spent years wondering what was causing strange disorientating symptoms, and didn’t get any interest from GPs until I started having falls. I’m glad your GP is being proactive, it’s not uncommon even these days for some family doctors to have never heard of Ataxia.

If you do get a definite diagnosis, it will give you a certain peace of mind, although obviously it won’t be something you want to hear. I’ve had numerous blood tests, and an MRI which confirmed Cerebellar Atrophy. At one point my Neurologist suggested trying Acetazolamide for dizziness, but at the moment I don’t take any prescribed medication.

There are medications that are known to alleviate certain symptoms, look on www.ataxia.org and scroll through the FACT SHEETS. Because everyone reacts differently to medication, it can often be a case of being very patient, and a case of trial and error.

Also, contact www.ataxia.org.uk and they’ll send an information pack to you, including general info for your GP re Ataxia.

And, search for Support Groups on www,ataxia.org.uk because there’s a chance that there may be a local group near you :slightly_smiling_face: xB


#3

Awww thanks so much for the reply!

I feel like the symptoms came on very suddenly either that or I just flipped them off? just tried to ignore them maybe?

Im on medication for my severe migraine at the moment Topimirate been on it for almost a year its been doing the trick until recently and now the GP is talking about increasing it so im back to see him in 2 weeks to talk about that and what the neurologist said.

Ive done a lot of research in the last 24 hours into it my neurologist even had to look it up but knew exactly who I would need to be referred to which was comforting. At the moment I will know quicker than my mother as she is still waiting to have a sample taken to be sent for genetic testing! her GP wasn’t very helpful and her referral went in months ago.

Thanks again for your wonderful reply :slight_smile: