Ken’s Story

The day I lost my balance at a Coles supermarket checkout and went sprawling on the floor in front of dozens of onlookers, was the day I realised that oculopharyngeal muscular dystrophy (OPMD) had finally caught up with me, and that I needed to make major adjustments to my life.

My OPMD journey started 20 years earlier when I was in my 50s, which is a fairly typical age for the onset of symptoms. Surgery to lift both eyelids that had drooped so much they began to occlude my vision, was successful, though now my eyelids did not shut completely which means I need eye drops every two hours and eye ointment at bedtime. A few years later, the next stage kicked in with food getting stuck in my esophagus because the muscles no longer pushed the food through into my stomach. That’s when I bought a blender and realised just how much social life centres around food I could not eat. By this stage, I had visited a few doctors who quickly Googled OPMD and told me what I already knew, “Sorry, there’s nothing that can be done, but I’ll refer you to a dietitian and a physiotherapist”. One also added, “Try not to fall over”.

The support available in Western Australia through government funding is excellent, and I am very grateful for it. I have been able to access a speech pathologist, occupational therapist and psychologist under my care plan. The neurogenetics clinic I visit also has specialists who provide support. I don’t blame the medical fraternity for not knowing much about OPMD because it is a rare genetic disorder, affecting about 1 in 100,000 people. Each child has a 50% chance of inheriting the condition from an affected parent, though in my family of four siblings, three of us have it. In my father’s generation it was two out of three.

After the incident at Coles, I realised that the muscles around my hips and upper legs were getting weaker. My bum also disappeared so sitting on bone was pretty uncomfortable until I acquired some very expensive cushions. My mischievous kids gave me a pair of butt enhancers (if you don’t know, don’t ask). I now have a walking frame though some people with more serious symptoms eventually need a wheelchair. Unlike my sister, my arms and hands are still quite strong at age 77. Not as serious, though it can be quite distressing, is that facial muscles become so weak that no expression is possible. I’m lucky I can still grin, even if I can’t smile. And the loss of voice volume makes it almost impossible to participate in conversations in a group.

I am fortunate to have kind and loving children; all five of them are in their 40s now and so far, show no symptoms. Recently, two of them decided to proceed with the blood test that can detect the specific genetic abnormality associated with OPMD. A rather strange irony is that Montreal Quebec has the highest incidence of OPMD in the world (1 in 1,000). My oldest daughter married a man born in Montreal and he has no chance of getting it (no parent affected) while my daughter has a 50% chance. For those with serious, advanced symptoms life can be a daily struggle. My limitations are not so severe, and I thank God daily for the things I can still do.