Facioscapulohumeral Dystrophy (FSHD)

Daisybell

Daisybell

Senior Member (Voting Rights)
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 off, or attributed to other things.

I have had a positive result from research testing which has looked at epigenetics, but having asked for referral for testing through the health system in NZ in December, am still waiting on the official results.

I will post more info over the next few weeks!

My main reason for posting this thread is to tell you a little about the disease, and because I wonder if I may not be the only one here to have it. Earlier this week, my GP removed my 15 year old diagnosis of CFS (as it was called on my record) from my notes and replaced it with FSHD.
 
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 neighbour’s daughter (slap-cheek/5th disease are other names for this). The parvovirus gave me joint pain, especially in my hands, ankles and wrists. I developed raynauds. I stopped being able to run or even exercise in other ways. I was too tired and it was too sore. I got very foggy.

Not long after this point in time, another neighbour was discovered to be disposing of waste from methamphetamine manufacture down a shared external drain. After the council cleaned up the contamination, some of my pain, fatigue and fogginess went away, but I still wasn’t well. I got tested for all sorts of things and then was diagnosed with ME. This took about 2 years.

I also developed hyperthyroidism - Graves Disease - around this time. For some of this period, when I was a bit hyperthyroid but not too much, I actually felt a bit better! I didn’t know I was hyperthyroid though. Once it had been diagnosed, I was put onto drugs to lower my levels and came crashing down. This was a horrible time - I felt very ill and very weird. I remember the endocrinologist looking at me and saying “You do know CFS is psychological, don’t you?” I was hugely sensitive to the medication and felt very unwell on it.

I was gradually deteriorating - not managing work, despite reducing hours and eventually I realised that if I didn’t leave my job, I was probably going to be pushed out of it. I resigned, thinking that this might lead me to have more energy and feel better - but no.

I also got diagnosed with CREST syndrome which is a type of limited scleroderma. I have high autoantibody levels for this and some of the symptoms - the raynauds, the telangiectasias in my nail beds.. but otherwise this isn’t a big problem.

It’s now 15 years since I stopped feeling well.

Over recent years, I have struggled more with symptoms that perhaps don’t fit quite so well with ME - but of course, didn’t think to look for anything else. I felt that my history and symptoms were consistent with ME!

Things that perhaps don’t fit:
When I did a CPET test, with a 72 hour gap between the two tests, I wasn’t worse on the second test. No PEM according to the researchers. I do definitely feel worse if I really overdo things physically, but I am probably more physically active than most people here. I cant do anything really aerobic, but I can be quite active throughout the day as long as I pace myself and have regular rests.

I get a lot of muscle cramps. For many years, travelling in the car has been a problem - I get very tired and sore all through my abdomen. This is getting a lot worse now and I get cramps in my rib cage, my abdomen and now my neck.

Im also getting an increasing number of episodes of tachycardia. They are brief, but increasing in frequency. I haven’t seen a cardiologist about this yet - but would like to. My watch is now telling me that I am getting episodes in the night when I am asleep which is a new thing. Mostly they occur in the mornings, and I can feel them coming on. They only last from about 20 seconds to a few minutes at most.

Things that fit with ME:
I do get cognitive fatigue - I’m not sure how to explain this except that I feel so tired and sore that perhaps that is all it takes to wipe anyone out! Im intolerant of noise, bright light, have difficulty filtering sounds etc. For example, I cant go to the cinema - it makes me feel really ill due to the overstimulation.

I feel worse in the mornings and I dont sleep well.
 
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 I have copied a bit of the report below:

Unlike other genetic testing for FSHD, this epigenetic test does not measure the size of the FSHD mutation in the chromosome 4q D4Z4 array; instead, it measures the level of DNA methylation (epigenetic status) associated with this D4Z4 array. DNA methylation is a modification of your DNA that is indicative of gene activity. Low levels of DNA methylation (<30%) of the D4Z4 region are associated with FSHD (the pathogenic gene is ON); high levels (>35%) are not associated with FSHD (the pathogenic gene is OFF). We have previously determined the methylation levels that distinguish FSHD1 from other individuals. Your methylation levels are clearly in the FSHD1 ranges.

My methylation level is 8%.

The researcher who has done my testing says pain and fatigue are very common symptoms, and any muscle can be affected. I think that I have disease activity in my trunk/abdomen, and my neck. I may have it in other muscles to a lesser extent.

If my dad had not had his genome sequenced, we would be none the wiser. Looking at the family history now, I think it likely that his mother had it and one of her sisters. They were both thought to have had severe osteoporosis - both ended up very very bent over with difficulty lifting up their heads. My granny could walk ok but she was almost bent double and she had to lift her head with her hand to look up.
 
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Daisybell said:
Your methylation levels are clearly in the FSHD1 ranges.
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Generally speaking, having a mutation that is expected to cause disease does not mean that it will necessarily do so. I've read about this happening in various other diseases. Knowing that a person has a mutation is often not sufficient to diagnose a disease, one must also look at symptoms and/or lab tests.

At least this is how I understand things after trying to learn about medical genetics.
 
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 quite complicated - and only finally worked out recently. It is autosomal dominant. In order to develop FSHD, you need to have a permissive gene, and also a reduction in the number of repeats in the region of the DUX4 gene on chromosome 4. This results in DUX4 protein continuing to be produced, which is toxic to muscles.
There is also an FSHD type 2 - which has a different genetic cause but results in the same production of the DUX4 protein.
It is possible to have the genetic mutations and no apparent symptoms. The extent of symptoms and the exact nature of them seems to be very variable.
 
Daisybell said:
Im also getting an increasing number of episodes of tachycardia.
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This could be triggered by low iron. It was in my case. Another possibility I've read about is hypovolemia - low blood volume - but I don't know how that is tested for.

Daisybell said:
I get a lot of muscle cramps.
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This could be caused by all sorts of low nutrients and electrolytes. It could be an easy fix if only you had the right tests. I used to get cramp, muscle twitching, eyelid tics, muscle spasm, benign fasciculations several times a week. Fixing basic nutrients and increasing my potassium intake has almost eliminated them.
 
strategist said:
Generally speaking, having a mutation that is expected to cause disease does not mean that it will necessarily do so. I've read about this happening in various other diseases. Knowing that a person has a mutation is often not sufficient to diagnose a disease, one must also look at symptoms and/or lab tests.

At least this is how I understand things after trying to learn about medical genetics.
Click to expand...
This is true for the most part, but there are also some mutations that will cause disease.
 
Arnie Pye said:
This could be caused by all sorts of low nutrients and electrolytes. It could be an easy fix if only you had the right tests. I used to get cramp, muscle twitching, eyelid tics, muscle spasm, benign fasciculations several times a week. Fixing basic nutrients and increasing my potassium intake has almost eliminated them.
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I wish we could be sure things like this were ruled out early as part of a screening, sadly that's not always the case :( Not saying it's the case with you @Daisybell, just a general observation and frustration. :)
 
Midnattsol said:
I wish we could be sure things like this were ruled out early as part of a screening, sadly that's not always the case :( Not saying it's the case with you @Daisybell, just a general observation and frustration. :)
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The problem is that if they were "ruled out" the patient might still feel better with higher levels of nutrients and electrolytes. For example, suppose someone had a test of ferritin (iron stores) their result might be 40 (range : 20 - 200). Many, many doctors are likely to say that level is "fine" or "normal". But perhaps the patient would feel better with a result of 100 (20 - 200). But in my experience anything in range is considered to be "normal" or "fine" and the ferritin wouldn't even be mentioned to the patient.
 
Arnie Pye said:
The problem is that if they were "ruled out" the patient might still feel better with higher levels of nutrients and electrolytes. For example, suppose someone had a test of ferritin (iron stores) their result might be 40 (range : 20 - 200). Many, many doctors are likely to say that level is "fine" or "normal". But perhaps the patient would feel better with a result of 100 (20 - 200). But in my experience anything in range is considered to be "normal" or "fine" and the ferritin wouldn't even be mentioned to the patient.
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Exactly this.
People can also be within normal range but be steadily heading into problems ( GPs generally only look at the current tests, so not in any personal context ) - nothing will be done until you are outwith normal range.
Synergistic and antagonistic relationships are not really considered either, and many don't seem to realise that not all tests have a bell curve distribution ....
 
Arnie Pye said:
The problem is that if they were "ruled out" the patient might still feel better with higher levels of nutrients and electrolytes. For example, suppose someone had a test of ferritin (iron stores) their result might be 40 (range : 20 - 200). Many, many doctors are likely to say that level is "fine" or "normal". But perhaps the patient would feel better with a result of 100 (20 - 200). But in my experience anything in range is considered to be "normal" or "fine" and the ferritin wouldn't even be mentioned to the patient.
Click to expand...
Yes. The normal range says little about what the optimal levels for the individual is, and some might be deficient even if they are within the "normal" range. It's so frustrating that even with symptoms of deficiency a lab test within normal (it can even be just within the range!) and everything will be written off as "no problem".
 
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 get to see a doctor (aside from my GP, who has always been great), I will let you know if attitudes have changed!
I should get booked into an EMG clinic - but they won’t do it until my formal results come in - and these have been held up by the lab in NZ sticking them in storage for 6 weeks before finally sending them away….. hopefully August will bring news. I am heartily sick of waiting and pretty cross about how long it is all taking. Being pragmatic, as there isn’t any treatment, Im not missing out on options to stabilise things, but I do have questions I would like answered and I think the whole process has been dreadfully slow with little thought for how I might be feeling about waiting for news about whether I do have an incurable progressive disease!
 
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.
 
A diagnosis should help you a lot. I often wonder if a lot of medically unexplained disease is caused by genetic disease thta almost reaches the cut off for diagnosis. If 4000 repeats mean you have the disease what does 3990 do?
 
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 standard practice approach for the diagnosis of many pre-symptomatic and symptomatic neuromuscular conditions, when a genetic basis may be more informative.

It’s like magic…

I asked if I am getting a Neurology appointment or not, and got the reply -
“I gather once they have some more information they will reconsider a further appointment.
I suggest you ring your GP they should have the information.”

Honestly I couldn’t have made this up.
Is this because they dont know anything about FSHD? It certainly seems like they don’t care even a little bit.
The joke is of course that if I go private, I still get to see the same people….

It’s not really a ‘health’ system at all. Perhaps they are hoping I will conveniently die! Which isn’t likely any time soon. At least my expectations are now at rock bottom so I can no longer be disappointed by any decision….
 
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 last time and hold onto it for 6 weeks first, then it will be 12 months from my first trying to get a diagnosis to getting the full results.

I think Neurology are still certain that I dont have any symptoms - or am imagining them - which is remarkable since they haven’t actually asked me or done any proper examination. And all the time I am getting worse.

I couldn’t have made it up. I am trying not to feel angry but actually I am f***ing furious. I see I wrote above that I can no longer be disappointed. I lied….
Patient care in 2022……………
 
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