Facioscapulohumeral Dystrophy (FSHD)

I have just had a Neurology appointment offered for Monday morning…
Presumably my haplotype test results have come back.
At least this appointment is with the doctor with an interest in neuromuscular conditions.

It’s now 10 months since I first went to the GP requesting testing, after my dad was diagnosed.

 

Best of luck. (I'm not a fan of neurologists...)

 

A reliable biomarker certainly helps with the investigation.

I had a good experience when I saw a neurologist. I wasn't expecting anything M.E related, but he did r/o MS.

 

I’m hoping for a confirmation that my symptoms are due to FSHD. That will mean I get a diagnosis that is seen as causing disability, rather than having what is uselessly termed here a ‘chronic health condition’ which allows the health and social system to look the other way. I don’t need support at the moment, but I might in the future. So I am really wanting to prepare. Also, I would like the opportunity to get on any research register for potential drug trials….

 

Well the appointment went better than I was hoping!
The neurologist found signs of FSHD - weakness in my neck, and one shoulder, and eye lid. He also didn’t disagree with my reports of weakness in my core but couldn’t find objective evidence. I am getting a referral to cardiology to investigate my episodes of tachycardia. I have some gabapentin to try for pain relief, although with a warning that the side effects may be worse than the benefits….
I am going onto the research register, and will get annual review. I have his direct email if problems arise.
All in all - i am pleased to have some certainty.

 

And I took some gabapentin last night - no horrible side-effects and I felt generally more comfortable and less achy and sore.
Yay!

 

It’s interesting that the gabapentin is definitely helpful. I forgot it the other night and then was very sore and stiff. Two tablets = more comfortable but a bit groggy. One tablet seems to give me a more restful sleep and i feel less sore…

 

Another update.
I went for a blood test last week - neurologist requested Creatine kinase and vit D. My CK is significantly raised - no great surprise but I guess a sign of ongoing damage to my muscles.
I also seem to be going through a phase of acceleration in the disease which is very disappointing and actually rather scary. Am hoping it will stop/slow down soon.

 

Hi anyone who reads my thread!
I had a video meeting with some other people in NZ with FSHD - either in the family or confirmed with genetic testing. 2 people in the call last night have been long diagnosed with fibromyalgia but both have children now positive for FSHD. And we all have very different symptoms in terms of weakness. Those like me with no particular weakness to see (at least in the earlier stages - which could be 20+ years), but pain and fatigue, I think are possibly an under recognised cohort. You need a family history for it to be investigated as an option unless the weakness is very apparent and very typical.
Having lots of cramps in my neck and abdomen at the moment, and my heart rate is all over the place in the mornings.

 

Hi. I'm following with interest. I hope it helps you feel less isolated to share with us what's happening. The bit about families with FSHD and fibromyalgia sounds interesting.

 

@Hutan, there is currently an easier and less expensive route to get someone started on investigating this. It’s a route that both @Daisybell and I took. She tested positive and I tested negative. The Jones lab is developing a new test for FSHD and you can currently (I think it’s still valid) get a test from them for free. Anyone in the world. The Jones lab is highly respected and there are many patients who are fans. If you test positive on their test, then you could pursue genetic testing.

here is a place to start learning:

https://myfshd.org/test-for-fshd/

here is the Jones Lab:

https://med.unr.edu/jones-lab

 

There also are some FSHD facebook groups that can be useful, if you dare to tread into that realm. I dipped my toe into them and that is where I found info about the Jones lab.

 

Peter Jones from the Jones Lab does podcasts on Spotify. He’s quite a talker - but you can fast forward over the intro all about sport! He’s very knowledgable about CRISPR editing and apart from his extensive knowledge related to FSHD, he is very insightful about drug trials etc. Some of the episodes might be of interest to folk not really interested in FSHD or muscular dystrophy in general.