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Please advise – struggling to get a diagnosis
Hi all,
I’ll preface this by saying I’m yet to receive a diagnosis, other than myopathy which I don’t think is a diagnosis in itself, but I would be grateful for some advice and thought this might be the best place for it.
I’ve been struggling with symptoms since 2018 – I was 20 years old then. I won’t go into too much detail on symptoms, but it all started with cramping pain in my calves when walking and developed into general weakness and exercise intolerance. I struggle to walk for more than 30 seconds to a minute. Even brushing my hair and chewing food is a struggle.
I had an EMG and nerve conduction study. The nerve conduction study returned normal, but the EMG showed myopathy in many of the muscles sampled. I’ve had quite a lot of blood tests which have generally been normal, including normal CK levels, but my inflammatory markers have consistently been elevated. I’m unsure how relevant this is, so I apologise if I’m rambling.
My issue is with receiving a diagnosis. I’ve had two EMGs which have both shown myopathy, but my neurologist is refusing to do a muscle biopsy because she does not believe it is inherited as I don’t know of anyone in my family with any type of muscle disorder.
I know the NHS is struggling right now, and I apologise if I sound dramatic, but I feel that I’m being neglected. I explained how much I struggle every day because of my symptoms – including having to drop out of university and not being able to work. It seems that they’ve given up on determining the cause of the myopathy and just expect me to be on painkillers for the rest of my life, which doesn’t help at all.
I’m not sure what my next steps should be and would appreciate some advice on this. I’m considering putting in a complaint given that I was told a muscle biopsy would be the next step and am now being denied this. I’m so exhausted dealing with all of this.
Reply To: Please advise – struggling to get a diagnosisHello and welcome, although sadly under such circumstances. You are not alone in the lack of diagnosis many who come here have been through the same problem. Also creating a diagnosis is, as you will appreciate, a multi level process which includes tests and the judgement of the consultant concerned. You should also remember that no one test is usually a definitive indicator of a condition, unless it is something like COVID. For neurological conditions it is way more complex of course. But you have every right to know what is going on as far as medical science will allow. I would thus suggest that you might want to seek a second opinion, which is your right. A different consultant in a different area may have different experience, and knowledge. You may also think about seeing a consultant privately (don’t mention this first). This will allow you, at the very least, to spend more time with them describing your symptoms and of course worries. A DNA test is more indicative a a particular type of MD or other conditions, have you had one of those?
You must also consider that you may be the first in you family line to have what is being looked at, as I was. I am not certain about that but other members of my family were also refused the appropriate tests to confirm or deny it.
So as you will appreciate there are some options, but there are many hoops to go through. It will be worth it for you to set you mind at rest at least.
If you do decide to go down one of these routes please do come back to us and we try and help you get the most from the encounter.Mike
So many love songs, so little love.
Reply To: Please advise – struggling to get a diagnosisAnother case of a arrogant doctor.
I had issues like this with my GP practice and neurologists and now I’m very blunt to there crap. There lack of knowledge is shocking and arrogance of the scale. I had issues like yours and basically diagnosed my own subtype. I made such a point with my GP practice now that for any health issues I go in a tell them what referrals I need and they just accept as I have been right all times.
I always ask the follow.
How did you come to your conclusion?
Can you please have your conclusion typed up as I will look into going private as i feel your conclusion is incorrect
There ass usually nips up and they referr you after these questions.
OK back to your topic.
So your parents can be carriers of a defective gene inwhich if recessive there will be no symptoms.
So if two people with the exact same defective gene have a child there is a chance there child can be effected like 1 in 4 chance so offcourse no family history if its recessive from parents being carrier’s just like my condition. I was a athlete until 30 years old no family historyMost muscular dystrophy is a recessive form.
Your neurologist is a total arrogant asshole.
I contacted the Newcastle John Watton musclar dystrophy center myself and explained my condition and they ordered my muscle biopsy.
You should do this.
Are you based in UK?
Reply To: Please advise – struggling to get a diagnosisIf you are in the UK I will message you a direct contact phone number of the Newcastle based administrator for Rare Neuromuscular Diseases.
Call them tell them your issues and concerns as they heard this story alot so very understanding and like me they will contact your GP for direct refferal. Basically then all contact is with them
Top G out
Reply To: Please advise – struggling to get a diagnosisYour Neurologist was probably asleep when at medical school so they don’t understand the following. I would strongly question them on this.
In diseases with dominant inheritance patterns, a person who inherits a flawed gene from one parent will have disease symptoms. That parent would also have the disease. In diseases with recessive inheritance, a person must inherit two flawed genes — one from each parent — to have disease symptoms. The parents do not have symptoms.
A recessive form of MD can show up in one person when there is no family history. Other family members may have been carriers with no disease symptoms. Carriers have the genetic flaw (mutation) on a chromosome and can have a child with the disease, but only if the child’s other parent is also a carrier. So, it is not unusual for carriers of a rare recessive disease not to know they are carriers until someone in the family develops the disease.
A person with MD may have a brand new genetic mutation, so there may really be no family history or even carriers of the disorder in the family. However, once someone develops a genetic disease, even if the mutation is spontaneous (new) within that person, he or she can then pass on the mutation to any offspring, thereby introducing the gene for the disease into the family.
Reply To: Please advise – struggling to get a diagnosisHi littlefluff, have you had any more luck with getting a diagnosis?
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