Friedreich's Ataxia Diagnosis - questions to ask the neurologist?

[MSW_91]

Hi all

I am a first time poster on the site. I have recently been diagnosed with Friedreich's Ataxia through genetic testing. I have had an ataxic gait and balance issues since the age of 25 (I am 30 now) and first saw a neurologist in 2016 for these issues. I do not have a noticeable slurring of speech or any swallowing difficulties but I do have sensory neuropathy.

My genetic testing has confirmed FA and the neurologist has sent me a letter informing me of this. I am due to return to clinic at the end of November to discuss this with him in more detail.

Can anyone advise what sort of questions I should ask in this face-to-face appointment? I have read a number of posts on this site regarding vitamins and supplements. Are there any that I should ask about taking? Should I ask for specific details regarding the test and what was found in my blood?

I currently work out regularly (cardio, weight training and swimming) as when ataxia was suspected by the neurologist I was advised to exercise as much as I can.

P.S. I have registered with Ataxia UK and the FA patient registry

Thank you in advance!

[wobblybee]

Hi welcome🙂Since you’ve already been seen and this is a review, you’ve possibly already covered the basics re current symptoms and family history.

You could have it confirmed that you aren’t deficient in any vitamins..ask if CoQ10 might be beneficial for you, and enquire if you are eligible for any trials.

And, ask if you can have a contact number in case any new symptom is causing concern before your next review.

[MSW_91 in reply to wobblybee]

Hi there, thanks for your response

I will ask about the vitamin deficiencies. Thanks for suggesting CoQ10 - I've seen other posts mentioning this. I will ask the neurologist. Good idea on getting a contact number too.

On the trials - there is one coming up at NHNN for FA patients. I'm currently trying to get a referral to their clinic so that I can find out more.

Many thanks!

[LJH3]

Hi there,

I also have FA and was diagnosed via genetic testing at 29. I am now 37. As for things to ask about I would say:

- ask if you can be referred to an Ataxia Centre - not sure where you live but there is one in Sheffield and London.

- make sure you are on Cardiologys radar for regular heart checks - I have 6 monthly Echo Cardiograms and 24 Hour tapes.

- ask for a referral to Physio - I found the advice and exercises the Physio gave me really useful.

Also, a few 'non Consultant' things:

- consider applying for Personal Independence Payments (PIP). This is a non means tested benefit and can be claimed if your daily living / mobility is affected. You may not feel this is necessary at this stage - I only felt the need to apply earlier this year. Have a look at: gov.uk/pip/how-to-claim

- there are support groups across the country. I attend one and we tend to mix between Zoom and Face to Face meetings which makes it more flexible (I still work full time). The Ataxia UK Website is really good and details all the available groups, contacts, details etc.

Finally, keep doing what you can exercise wise - I think swimming helps keep my legs strong (well as strong as they can be as an FA sufferer!)

Take care and I hope this helps

😀

[MSW_91 in reply to LJH3]

Hey

Great to hear from you. Thanks so much for the suggestions - some really good advice here!

Also interesting to hear that you were diagnosed around the same age as me. It's all been a bit sudden for me as I had never heard of Ataxia until about six months ago. Although now I am diagnosed things are starting to make sense and I can be proactive about next steps

Have you got involved with any clinical trials? I hope a referral to NHNN (I'm based just outside London) will open up some opportunities.

Thanks again!

[penelope2]

Hi there, so sorry you have been diagnosed so young. Yes CoQ10 could help plus good quality Omega 3. Vitamin C and E plus the B vitamins are also essential to the nervous system.It is good to get advice on the quantities of these so a nutritional therapist with.knowledge and experience in this is needed.

Also it is worth trying going gluten free as this may help with neurological conditions.

You should know quite quickly if GF will.help you but you must do it completely and there are many GF foods now available.

You sound like a proactive person and these measures may make you feel.more positive and in control.

Just a small note. I have yet to come across a health professional that understands and has training in these areas so it is really up to you if you want to try this approach.

A note, not all supplements are of a good quality and those you buy "off the shelf" might not be "good" enough.

Take care.

[MSW_91 in reply to penelope2]

Hello

Thanks so much for this. I've made a list of all of the vitamins and supplements that you've listed to discuss with the neurologist.

That's an interesting one on gluten. I assumed that gluten ataxia is a completely separate thing from genetic ataxias, but it's definitely something I'll ask about.

And yes, I've found the key is to be proactive and take control of the situation as much as you can.

Thanks again for these suggestions. Quite a lot to discuss at my next appointment!

Best wishes