I am having trouble getting diagnosed, so not sure if have illness. I’ve been back and forward to doctors with a cough. I’ve always said I cough to clear my throat as feels as if it’s tightening. They continue to send me for chest x.rays. I looked to see if there was anything genetic as my mum had same symptoms, difficulty swallowing and joint/muscle pain. She got so bad she could not move and stopped eating as it was too sore and had to be taken to hospital they fed her through a pipe, but she died soon after of malnutrition. When I mentioned to Dr I was told never heard of it. Got refered to ENT. Found had 9 week wait so thought I’m going back as now starting to choke when eating and pain in upper leg is getting unbearable and with other aches n pains. This one laughed about googling. Felt like saying we’ll you are getting nowhere. Got the ENT appointment moved forward to next week. Any advice on what to do/say to try and ensure I at least get a blood test done[quote=“ModSupport, post:1, topic:29, full:true”]
January 5, 2015 4:00 PM MST
Just Curious as to how you were diagnosed and how long it took before you were Diagnosed. Did they use the Brais criterian and confirm with the PABPN1 gene testing?
January 29, 2015 12:54 AM MST
I was diagnosed in 2007, through the MDA (locally) who sent my bloodwork off for genetic testing. It was four long weeks and my doctor called by phone and told me i had the disease. Later, I would go to the MDA clinic every year for many years. The gene testing confirmed the illness.
January 29, 2015 6:49 AM MST
I was diagnosed in 2005, though it was readily apparent that I had OPMD having inherited it from my mother.
October 2, 2015 12:07 AM MDT
I knew a bit about the condition, i realized i might be blessed with this delightful condition when i went for an eye test, they kept saying “you need to open your eyes wider” went to GP who refered me to the hospital, 3 months later i was diagnosed.