February 8, 2023 at 5:52 pm #202799Treatment First Steps
I am 29yrs old and currently in the early stages of what I have been told and believe is Limb Girdle Muscular Dystrophy. Whilst not a terminal condition, this has been extremely difficult and has forced me to radically alter my life.
My first experiences with consultants, doctors and the like went extremely badly and I am unsure how to proceed. I am yet to get a proper, specific diagnosis and some form of ongoing support from NHS or otherwise. The consultant I saw at Royal London Hospital paraded me in front of his students due to the unique symptoms, proceeded to do countless blood tests and told me I should not have children or be overweight. No care was advised, no mental health support was forthcoming. As you can imagine, this was hugely discouraging and humiliating.
Does anyone have any advice for getting a specialist to take me seriously and actually begin care? I am prepared to go through the process of reapproaching a new GP (I have since moved to Edinburgh, Scotland) but does anyone have experience (good or bad) of getting proper diagnosis for LGMD? Any of your thoughts would be helpful.
AvaAvalon34ParticipantPosts: 0Joined: 08/02/2023February 9, 2023 at 1:01 pm #202800Reply To: Treatment First Steps
Hello and welcome Ava. Having worked as a clinician I am shocked to hear what had happened, and I am equally shocked as to how the situation has affected you, but sadly not surprised. Being told a diagnoses like ours needs to be done sympathetically. You have a right to ask for a second opinion. Ask to be referred to a neurologist at a different hospital. I believe that you may well find a more sympathetic ear from someone new. i believe that the Royal London is a teaching hospital and thus they will tell you that there are various notices telling you that you may well be seen by students unless you specifically say otherwise. At the very minimum I would have expected you to be asked beforehand. AS you will no doubt find out during your time with MD, much of what you need will have to be pushed for, and with that in mind you need to decide exactly what you need so you can ensure you get it.
When you go to see your GP about a referral to a new consultant, as I and many others have done, you need to remember that (s)he will probably never ever seen someone with your condition, and are very unlikely to see anyone again. Build on that not just by explaining what your symptoms are but also making sure that they .know that this is a long term condition that will change with time and that appropriate support will be needed. The GP will no doubt not only understand your problems but welcome the chance to understand a rare individual.
I found this on the interweb from Scotland, it may help you.
You will see that knowing more about what you have, including what type you have, is an important precursor to understanding how your condition may progress, and how you can deal with it. I do stress MAY as we are all different. There is no doubt that you will need to change your life, most of us have to do. Trying to anticipate the changes, and thus planning, requires you to have the knowledge I mentioned above.For example I have lost two careers as a consequence of FHSD. Each time I had planned for alternatives well in advance, so when the time came I was not left dangling. All of this comes with a full diagnosis, and the best support so you can make the decisions you need to.
Do please keep us advised of your journey and remember we are always here to help.
Meanwhile have a look here
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015February 13, 2023 at 1:10 am #202802Reply To: Treatment First Steps
I am on the East Coast of Scotland too, Avalon. My condition is Becker MD. I know what you mean with regards to the students with proding experience!
I suppose it’s good that the students hear about MD at the very start of their careers, much better than the middle aged GP etc who exclaims ” oh, I’ve never met anyone with your condition before!
It isn’t easy accepting a diagnosis, I still remember mine in 2003. They were very matter of fact, and I was in and out in minutes, in a state of shock.
As to “care”, I see a neurologist annually; though even that has been on hold since the pandemic. I just don’t think there is much they can do for us.ranaldParticipantPosts: 747Joined: 05/09/2010February 28, 2023 at 12:12 am #202805Reply To: Treatment First Steps
Yes it’s shocking treatment inwhich I experienced same
Spent years going to GP they fobbed me off, I finally saw a neurologist who after conducting electrical tests said it was most likely LGMD and that my children will most probably have it which was totally incorrect advice. Said I should retire (I was 38 then)
I then pushed for direct diagnosis which GPs seemed not to care and also the neurologist seemed also not to care, I got giving copy’s of emails I guess they never thought I would get basically saying none urgent so don’t push to much for other testing and no treatment available
Finally got muscle biopsy and turns out I have LGMD2L and each parent has to have a faulty gene to pass it on so my children will 99.99% not be effected so totally wrong Information at start from neurologist.
I started to do exercises and asked my GP for mri scans to see what muscles are affected as to avoid exercises on them and build up muscles around these. GP said hospital rejected mri scans as basically don’t care about it as no treatment available
I asked about any physical therapy and GP said nothing can do, no treatment to help
That was about 4 years ago,iv progressed alot now and no help at all but during covid they called me 10 times aday as the GP practice really cared about my health as to protect me… or more like get the £12 per each vaccine given as only time they ever want to actually give me something is vaccines or flu vaccine but never a hospital/ specialist referral
Thing is there is no treatment or real help. It’s progressing weakness so by the time it gets worse you will probably fully accept it. Time does this
I’m 42 now and should be in prime but now I’m weak and lost my job and what I enjoyed in life also as I was very physical before
My wife left me and my parents are helping raise my children.
I sleep alot now mostly, I don’t go out much as ashamed how I walk.
This is real life I’m afraidTomtom01ParticipantPosts: 0Joined: 27/02/2023February 28, 2023 at 12:53 pm #202808Reply To: Treatment First Steps
TomTom that is a really shocking, but sadly, very believable story, that so many of us have been through in one form or another. Let me say though, never be ashamed of how you walk, or for that matter, about anything in your body and your life. To do so lets the world win!
You also mentioned that nothing can be done. Well perhaps there is no cure yet but folk ar working on it. In the meantime have you ever sought advice form physiotherapists? I too was told I could not expect anything in terms of help. The physios at the NMC in Winsford, have helped me beyond words. Because they understand MD they understand its problems and what can be done to mitigate them. Do try getting such help from the many specialist centres around, and you may well be pleasantly surprised.
I might also put out this thoughts too that in view of what I have read in this column, perhaps this lack of medical commitment should be taken up by MDUK. So many of us experience this lack of interest from GPs and others. I cannot imagine them getting away with it with all the other neural and long term conditions. Things must change.
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015
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