February 16, 2019 at 8:36 am #175564Diagnosis
Hello My name is Daniel, to date I have seen my GP four times and now Iam waiting to hear back from the top Nurologist specialising in neuromuscular diseases.
I know the process of diagnosis can take a long time, but how long really?
Iam interested to hear other people’s diagnosis journey for their form of MD or myapothy from onset of symptoms to actual diagnosis please.
If you could be bothered I’d be grateful, thanks a bunch.
DanielFebruary 16, 2019 at 6:32 pm #175567Reply To: Diagnosis
This is a very difficult one to answer. It depends on somkNy things. In my case, I only got a genetic diagnosis aged 38 but I had been given a broader diagnosis of CMD aged 5. The reason for such a gap was simply medical advancement. The mutation had only very recently been discovered for my particular type of MD. New genetic mutations are found and testing techniques invented all the time. We are in exciting times so I hope you don’t have long to wait for diagnosis.
Often, a specialist neurologist will have a hunch based on presenting symptoms and history, giving you a clinical diagnosis so this is a common starting point to look for the proof. It sounds like you are in a good place. Hope you get some answers, sorry we cannot give you an idea of timescale.
A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015February 17, 2019 at 10:26 am #175572Reply To: Diagnosis
Hi Daniel,I was diagnosed with opmd last year, I’m in my mid fifties and there is also a family history of this, from the time I was referred to the neurologist to the diagnosis was roughly 4 months hope you find this helpful , wishing you all the bestCrazy catParticipantPosts: 0Joined: 27/01/2019February 17, 2019 at 12:40 pm #175575Reply To: Diagnosis
Hello Daniel. I was diagnosed when I was around fifty, some 16 years ago. I was only diagnosed after my number two son was, and the genetics took around three months to come back. It would be interesting to hear how you got on withthe neurologist, do please let us know.
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015March 1, 2019 at 4:39 am #175811Reply To: Diagnosis
The saga continues.
I just saw the main MD specialist in my area today and he agrees MD diagnosis is very likely…aproxx 6 week wait to do the EMG test then possible biopsy then genetic.
But at least I feel ham heading in the right direction for some clarity about my physical self.
March 28, 2019 at 2:52 pm #176641Reply To: Diagnosis
It really depends on the complexity of your case! I’ve been under investigation under a Specialist Neuromuscular Consultant for the last 20 years and still never had a confirmed diagnosis and that’s with biopsies, EMG’s, MRI’s, countless bloods and pretty much everything else in between. They know there’s a problem in my case, but as of yet I just have a generic label of “Metabolic Myopathy”. But I’ve met some people that have been pretty straight forward to diagnose it would seem – or in my case it can take forever. There’s not really a measure of time or simplicity. Depends what condition you have and how advanced medical science is at identifying the issues surrounding that condition.
Good luck with your tests and results!J4KANOR1ParticipantPosts: 0Joined: 28/03/2019October 1, 2019 at 11:17 pm #181584Reply To: Diagnosis
Hello people I hope everyone is doing as well as can be expected!
I havnt been on this site for sometime now as I joined the Facebook international lgmd2i and Australian page also.
So it’s all been straight forward since starting this thread. My neuromuscular specialist agreed immediate with me MD was more than probable. So had the muscle biopsy and the genetic test via blood drawn and the muscle biopsy was not conclusive but the gene test certainly was conclusive!
I have the mutated Fukutin related protein gene or LGMD2I.
In total it took approx 6 months to get that diagnosis after initially approaching my doctor GP and asking “I need a creatine kinase test because I’m sure I have a form of MD”, well my doc GP has been very surprised that my Google diagnosis was right!
Keep up the good fight people it’s hard work but have to keep trying to move!October 1, 2019 at 11:21 pm #181585Reply To: Diagnosis
I’m grateful in Australia for our medical system all those tests and visits to real specialists did not cost me a cent…I havnt worked in some yrs allready. I thank God even though I have this debilitating progressive condition.September 3, 2020 at 6:09 pm #189564Reply To: Diagnosis
Iv been waiting a year im walking on my tip toes and my calfs are wasting plus many other horrible, weird symptoms.
Iv had my genetics done, MRI brain, spine, lower back and legs, Nerve conduction studies, lumbar puncture plus im having surgery on my anklees tendons to extend them?
All this has come on in the space on 12 months. My toes are stiff, i cannot balance when stood still amd cannot walk for long before the burning begins. Bloody awful i got told it was hereditary spastic paraplegia but my neurologist said it dosnt fit the history but after a further consultation he thinks its DM because my calfs are basically dissapearing. Things dont look good for me but thats life and these are the cards im dealt.Paulmitchelson26ParticipantPosts: 0Joined: 02/09/2020September 4, 2020 at 12:45 pm #189569Reply To: Diagnosis
Please do get an accurate diagnosis first, then you will know how to drive your life and what possibilities there are. As you say you must deal with the cards you are dealt, but it may not necessarily be a losing hand.
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015September 6, 2020 at 9:50 pm #189603Reply To: Diagnosis
I had tendon release surgery when I was 6 – I was walking on tiptoes before that although had gone off my feet aged 5. The post-op practices are crucial to maintaining the lengthening of tendons. I’m not sure if it’s the same for adults but I had to wear splints for almost 24 hrs for some time after.
Getting a diagnosis can be a lengthy process. I didn’t get a specific one until I was 39. I’d had a broader one of Congenital MD at the age of 5.
Hope all goes well and you get good support. Please feel free to ask us questions or chat about your experiences if you wish.
A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015
You must be logged in to reply to this topic.