Hi, help – waiting to get genetic tests

Viewing 6 posts - 1 through 6 (of 6 total)
  • #175862
    Hi, help – waiting to get genetic tests

    Hi all,

    I was just recently at a private consultation and after reading my medical notes, going through my symptoms and then doing an examination with me etc, he came out and said he thinks it’s possibly Myotonic Dystrophy.

    I am now being referred to get genetic testing and I am also being referred to Cardiology as my ECG test that day came back ‘borderline’.

    I know its a waiting game so to speak until i get the results from the Genetic tests but I was kind of shocked that he just came out and said that. From my experiences of seeing doctors, consultants over the years, I was surprised that he came out and said what he thinks it is as usaully the doctors and consultants usually have just said, “we will do further testing” rather than making an assumption.

    Do you guys reckon he was so sure and thats why he said Myotonic Dystrophy?

    Thanks,
    x

    stargazerk
    Participant
    Posts: 0
    Joined: 02/03/2019
    #175863
    Reply To: Hi, help – waiting to get genetic tests

    Hello and welcome to the forum. It is difficult to be sure why what was said was said. I am presuming he is a neurologist, and seeing him privately suggests that he is a consultant level. Thus I would imagine he has a wealth of clinical experience and thus he has said it is possibly Myotonic Dystrophy. You must however, read the first word, “possibly”. He has not said with any certainty, just simply suggested that that is what he believes at the moment based on the information to hand. Quite correctly, he has arranged genetic testing as that is the only sure fire way of delineating your condition.
    You will need to be patient a little while longer until your results come back. Please do keep us informed of the outcome.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #175875
    Reply To: Hi, help – waiting to get genetic tests

    Hi Mike and thanks for your reply.

    Yes, I forgot to mention that he is a Consultant Neurologist.

    I ended up going for this private appointment as i had first went to my GP about this last February, seen a neurologist in July.
    I was due to see her again in mid April which is too far away as i have been off my work since mid October 2018 and was needing answers and put on the right path.

    My GP was for sending me back to work in January but after visiting my Occupational Work Doctor, he said I was nowhere near ready to go back. I am currently signed off work til April.

    Just patiently waiting on genetic testing appointment now.
    Thanks again. X

    stargazerk
    Participant
    Posts: 0
    Joined: 02/03/2019
    #175878
    Reply To: Hi, help – waiting to get genetic tests

    I saw my areas ( sunshine coast, qld, Australia)MD specialist Nurologist on Fri.
    I believed I have limb girdle.
    He thinks beckers MD.
    Have EMG and nerve conduction test on Wednesday.
    Your think I would be upset but quite the opposite, it feels like a relief to finely get some understanding of my physical body. :guitar:

    djt91184
    Participant
    Posts: 0
    Joined: 02/01/2019
    #175885
    Reply To: Hi, help – waiting to get genetic tests

    Indeed I would agree DJT. Gaining that physical understanding, as you call it, allows you to put the pieces in place nd move forward with your life, make plans and understand what may come.

    Stargazerk I can understand why you wen to see someone privately as the knowledge is so important as it is for DJT. Do not blame your GP though. They have very little understanding of MD generally I have found . and you may well end up teaching them as time goes on. Your Occy health doctor will have a different view. His/her main concern will be about whether or not you are fit to do your job, and more importantly, are you safe to do it. You will not be able to argue with their opinion even if you feel raring to go. By the time you see them again it will have been roughly six months from when you first went sick. Does your job cut your pay at that point? If so you will have precious little time to find alternative sources of money. Have you applied for PIP? Have you discussed with them going back to work with assistance? I rally would advise you to start considering your options now whilst you have time.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #175887
    Reply To: Hi, help – waiting to get genetic tests

    Hi Djt – I totally get the relief thing…..I felt that too after I got home from my neuro consultation the other day.

    Hi Mike – thank you for your reply again, I really appreciate it.
    My pay has now stopped ( i only got 9 weeks full pay then 9 weeks half pay because i have only been there less than 2 years to get full entitlement) and I am in the process of meeting up with our local council Welfare Rights Officer for assistance.

    Can you apply for PIP if you haven’t had a diagnosis? Would they give you payments without a diagnosis?

    My work have been great to be honest. We have discussed that when I’m ready to come back, it would be on a phased return but have not talked about extra assistance as they knew I am waiting on a diagnosis and if that is confirmed after the genetic testing, we would talk about that then.

    I don’t blame my GP’s but it is just frustrating.

    I have read up and it says it can lead to type 2 diabetes….I was diagnosed with type 2 diabetes 7 years ago…..thinking back now, this was when I first had some symptoms….is this just a coincidence or related? A question I can ask at my next appointment too.

    x

    stargazerk
    Participant
    Posts: 0
    Joined: 02/03/2019
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