Forum

RRMS and Fabry disease

this is a message asking any members of the society that either have MS or deal with the disease on a professional basis, if they have come across anybody who has been diagnosed with both MS and Fabry disease.

I have RRMS and i was diagnosed in 2001. My late father had Fabry disease which is a genetic metabolic disorder. He passed on the defective gene to me and my sisters.

Patients with Fabry disease dont produce a particular enzyme which is used to break down protein within the body. It mainly effects the brain, kidneys and the heart. (this is a very simple explanation)

It can be treated using ERT (enzyme replacement therapy).

i am currently taking pregablin to help with nerve pain for my MS and amitriptyline to help me sleep as i suffer from complete insomia.

My consultants at Salford hospital where i go for my annual tests for fabry disease are not prescribing ERT because the disease is not affecting any of my organs at the moment.

Many of the symptoms of Fabry mimic MS, particularly nerve pain, however at the moment I am not recieving any treatment to help with fabry disease as the consultants are unable to differentiate if my symptoms are a result of MS or Fabry

my question to members and professionals is, is there anybody out there that is also affected by both illnesses ?

If i was to recieve ERT could this also help my MS symptoms and reduce the progression of the disease ?

Any help and/or advice would be gratefully recieved.

thank you

Hi,

I’m just bumping this to the top for you. We haven’t been deliberately ignoring you - I think it’s possible your post got held in a moderation queue for a couple of days, which meant it got missed.

I replied to a similar post on your behalf (at least, I think it must have been on your behalf) by your buddy, Survivor?

Unfortunately she (it is a she, isn’t it?) didn’t elaborate on the nature of your question, so the answer I gave won’t have been very helpful. It was only based on what I could find on Google anyway, as I hadn’t heard of Fabry disease.

I do not think you will get a reply from a medical professional here. I have no way of knowing whether they visit the forums or not, but I’ve never, ever, seen a reply from anyone openly declaring themselves to be a neurologist, or anything like that. I’m guessing there might be ethical or legal issues with them advising a patient they have never met, on an internet forum. Or maybe they just don’t want the flood of questions, or possibly even criticism and abuse they’d get, by publicly declaring themselves here?

There used occasionally to be some special forum sessions, with questions and answers from a specially invited panel. But I haven’t seen one of those advertised for months. Looks like they’ve stopped doing them.

Sorry I can’t help more. But maybe someone else seeing this can?

Tina

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Oh, and P.S. - forum members are not necessarily MS Society members. You do not have to be, to post here.

Tina

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The MS Trust regularly holds Q&A sessions with health professionals so maybe this would be a better place to pose your question?

Tracey x

thank you for your comments and tina…survivor is my friend and its a HE !

i was given a number that i can ring and ask if there has been any research that has been done with regards to fabry disease and ms…and then take it from there

i will look out for the Q & A sessions and perhaps ask my question during that session