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Ive been listening to the podcasts for some time now and I keep thinking i understand the genetics and epigenetics and then I realise I don’t really! My methylation levels for the implicated region are 8% which apparently is a clear indication that the gene is switched on rather than being off...

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...

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...

I have voted in this poll - but can remove my vote… I took LDN for many years - as I found it took the edge off my pain. I no longer take it - because I cannot easily get a prescription. However, since my new FSHD diagnosis I take gabapentin at night - which I think has a better effect on my...

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...

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…

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

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...

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...

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...

Of course if the Neurologist googles FSHD, this site may pop up….

Today I went to give more blood for haplotype testing, requested by the Genetic service. It seems that Neurology will make a decision about whether to give me an appointment when this result comes back. Obviously it has to go off again to Bristol in the UK…… and if the lab here do what they did...

So - the original Neurologist said if the genetic test was negative, there was no need for EMG, given normal limb strength. Today, via the Neurology Scheduler, the message is that I now do not need EMG studies ---- these would not add to the genetic report and the clinical examination, this is...

Got a phone call today from the genetic service - my results are finally back. FSHD type 1 is confirmed. The genetic counsellor said she wasn’t going to try to explain the genetics because they are so complicated - i have sent her my research test results…. Now waiting on neurology.

My GP ran a whole load of blood tests to check my levels of things- iron, potassium, magnesium, thyroid hormones etc etc She was very thorough. All completely normal. The symptoms I am having are common with FSHD, so at the moment, I am assuming that is the cause. @Arnie Pye - when I actually...

Wikipedia does actually have quite a good page on FSHD if anyone is interested. It’s interesting to read about the use of exercise and CBT for fatigue - I haven’t looked closely at those references but feel sure that they will mirror the evidence base for their use elsewhere. The genetics are...

Do my symptoms fit with FSHD? At this point - without a recognised diagnosis from the health system - the Neurologist says No. No weakness of the muscles usually affected - although no formal testing. However - I believe the testing I have had done is accurate. This says I have FSHD type 1 - and...

This post is a history of how I got to be diagnosed with ME - which is probably coloured by my bias and search for meaning. I was healthy and fit until my mid-30s. I ran regularly, went horse-riding, swimming etc and had no symptoms of anything concerning. I caught parvovirus from the...

I’m posting this new thread as I have been going through the process of diagnosis. My father was diagnosed last year (he’s now in his 80s) as a result of being part of the UK’s 100,000 genome project. He has had problems for many years, but these were initially either put down to ageing, brushed...

I can see potential problems with having a register - who decides who is appropriate? Can anyone put themselves forward? What is to stop the register becoming a list of people with very strong opinions, that perhaps might be of dubious validity? Personally, I would be happier to see a list of...