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.