A rare and creeping neurological disorder

By Romano, FOSMN syndrome, Netherlands, May 8, 2018

About six or seven years ago I went to see my doctor about a twitch on the left side of my face. She didn't know what it was, and since it seemed to fade I paid no mind to it any further. About four years ago I started experiencing cramps in my jaws and throat, gradually evolving into a hoarse voice which worsened over the next year.

After seeing several doctors who came up with all kinds of minor diagnoses, one doctor thought this might be a neurological issue. EMG tests followed, results were not conclusive. I visited the ALS-centre in Utrecht, The Netherlands to exclude horrific diseases like ALS. It was not ALS and that was a relieve, but after another year and all kinds of tests, the diagnose FOSMN (facial onset sensory and motor neuropathy) was made. A very rare disease, since to date only about 40 cases have been described in medical literature.

Nearly two years ago I started experiencing weakness in one of my arms and over the following year the muscles in my neck, face, shoulders, arms and hands followed. The muscles in my shoulders and biceps have all but disappeared causing numerous frustrating moments during the day, being able to perform less and less simple things like preparing a meal, putting on a coat, raising food and drinks to my mouth, talking, driving a car or bike, doings my favorite sports etc. Moreover this also puts an enormous burden on my sweet wife who has to take care of a lot of things that I used to do.

FOSMN is extremely rare. So far I've managed to contact about eight other people diagnosed with FOSMN, spread across Europe and the US. If you also suffer from FOSMN we would like to hear from you, please contact us at our provisionary patients foundation site fosmn.org so we can join forces. We have also collected some more information on this potentially lethal disorder.

Currently research is done at the University Medical Center Utrecht. And although there is still a very long way to go, I'm greatful an effort is made to uncover the causes of FOSMN. I'm hoping the medical world will join forces efficiently and share information as best possible. Each journey starts with a few first steps.


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