May 17, 2020 at 11:46 am #187820New OPMD Diagnosis
I have recently been diagnosed with Oculopharyngeal Muscular Dystrophy and I’m having some difficulty in coming to terms with it. It is rare and I’m struggling to find any information about it. It has taken 7 years to get this diagnosis since my first symptoms appeared which has been a very frustrating process.
Does anyone know of any in depth studies on this condition please? The link on this website is broken. I’m desperate for information and feel like I’m beating my head off a wall.
Thanks in advance.
LisaMay 17, 2020 at 12:44 pm #187822Reply To: New OPMD Diagnosis
Hello and welcome. You are not alone in your struggles, most of us here have gone through the same difficulties regardless of the brand of MD we have. But please be assured that you are not alone, we are here to help, to listen and to support.
There is a wealth of literature out there, mostly designed for non medical people. Would you prefer to have medical papers as opposed to the information for lay people? Now you have your diagnosis has your neurologist pointed you in the direction of any support or ongoing care?
So many love songs, so little love.May 17, 2020 at 12:52 pm #187823Reply To: New OPMD Diagnosis
Thanks for your reply. I would prefer something for the lay person to understand but anything at all would be good, I can’t find much at all on OPMD, maybe because it’s rare? Who knows?
It does feel very lonely receiving this diagnosis, especially at this time when I am unable to see the neurologist in person, I have a telephone appointment with him tomorrow to see where I go from here so I hope he can point me in the right direction.
I have so many concerns, especially the hereditary nature of this disease and how it could affect the rest of my family, I worry for them too.May 17, 2020 at 5:08 pm #187824Reply To: New OPMD Diagnosis
Hi Lisa. Sorry to hear you are struggling. My name is Jeanette I too have opmd I have been where you are right now and it’s like being hit by a freight train worst feeling in the world.but I’m dealing with it much better now. There is genetic counselling, although I have not done that yet. I have one son who had the test which came back negative thank god. I inherited it from my dad which means it’s dominant which is only one copy of the gene. You don’t say what type you have. Write down as many questions to ask as you can.. CcMay 18, 2020 at 8:23 pm #187888Reply To: New OPMD Diagnosis
Thank you for your response, it’s just good to know I’m not alone, it certainly helps. I had my telephone appointment with the neurologist today and he’s managed to put me at ease a great deal. He’s referring me to to a surgeon to get my ptosis looked at and also to a genetic counsellor. Of course none of these things can happen during this pandemic which is very frustrating but understandable.
Thanks for listening
LisaMay 18, 2020 at 9:36 pm #187889Reply To: New OPMD Diagnosis
Hi Lisa,I’m glad they’ve put you at ease. There are people you can call at md. And they can send you an information pack about the condition. It takes time to get your head around it,there peers on here that have the same condition that you will be able to help with your questions. It will get easier and there will be good and bad days.ccMay 19, 2020 at 8:37 am #187891Reply To: New OPMD Diagnosis
Hello Lisa, totally understand your frustration , I’ve just recently been diagnosed with inherited distal myopathy and still awaiting further testing for limb girdle muscular dystrophy.
It’s reassurance when you’ve spoken to your neurologist and you know your going to get support .
I don’t think any time is a good time to get told these things but when in lockdown it’s definitely testing.
Take care TracyTracyallcock7ParticipantPosts: 0Joined: 06/01/2020May 25, 2020 at 12:41 pm #188023Reply To: New OPMD Diagnosis
Perhaps you might start by looking at this
If you have already seen it I will paste some more.
So many love songs, so little love.October 3, 2020 at 1:25 pm #190047Reply To: New OPMD Diagnosis
Hello all. My genetic counselling has been delayed and delayed due to Covid-19 it’s so frustrating. However I did have some tests done on my muscle function and apart from my facial and throat muscles everything else is OK at the moment which is a relief.
Thanks for your responses and support.October 5, 2020 at 8:52 pm #190070Reply To: New OPMD Diagnosis
Hi Lisa, it is speach and language therapist, I too have opmd and have seen the salt team, they check your swallowing and give you exercises to do and some good advice, I too am waiting to see a genetic councilor, I don’t expect that will be any time soon. I also saw a dietician.cc
You must be logged in to reply to this topic.