• Fiona Stewart

Gene Genie


With Rare Disease Day approaching in a matter of weeks it seemed like a good time to talk about OPMD.


What is OPMD?

  • Oculopharyngeal Muscular Dystrophy is a progressive neuromuscular condition.

  • Males and Females are affected equally

  • Muscle Weakness begins after 40 years of age.

  • Muscles involved: Face, eyes, neck, throat, upper arms and legs


This dude, explains the condition in much more depth.



When did you get diagnosed?

  • I was diagnosed in 2015, one week after my aunt passed away from the condition.

  • I inherited the condition from my father.


What symptoms do you have and is there a cure?

  • There currently is no cure.

  • I'm tired and sore on a daily basis and as a result I've had to learn to adjust my work and life schedule to avoid becoming fatiqued.

  • I have bouts of double-vision - I literally see two moons in the sky lol!

  • My eyes often become glazed and heavy and my balance can be compromised, no I'm not drunk, I'm just really feckin tired!

  • It is vital to keep on top of your mental health and I work extremely hard to eliminate stress as much as possible from my life. On days when I need to re-centre, I take time away for self-care.


Was it hard getting a diagnosis?

Yes. It was unnecessarily drawn out, due in part to my GP who refused to take the condition seriously (he mistook my symptoms for anxiety (a common experience for sufferers).


Did you get gene tested?

I contacted MDUK about the possibility of getting tested for the PABPN1 gene.

Rebecca Johnson (Neuromuscular Outreach and Support Officer for MDUK) was incredibly helpful and provided essential documentation for my geneticist.


How long did you have to wait to get tested?

All in all it took 18 months to get tested.


Is there an adequate support system for sufferers in Northern Ireland?

Sadly not. At present I'm the only person on record in NI with the condition.


Ken Lang, Radio personality had this to say about his own experiences with OPMD.


“I was like a frog in boiling water,” he says, referring to the hapless amphibian who’s being cooked so slowly he doesn’t notice there’s a problem until it’s too late. “I had all these things going wrong. I couldn’t eat. I was losing weight. I just chalked it up to having muscular dystrophy.” Had he postponed seeking medical attention any longer than he did, “it wouldn’t have mattered,” Lang says. “Some of my vital organs were shutting down.”

IF YOU HAVE BEEN AFFECTED BY MUSCULAR DYSTROPHY, A RARE DISEASE OR BY OPMD, PLEASE FEEL FREE TO GET IN TOUCH.

MDUK

FB OPMD GROUP


ps. Soz if you clicked for Bowie! ;)


#bowie #opmd #musculardystrophy #health #rarediseas

©2019 Fiona Stewart