When the Truth Found Me: Discovering Pompe After 10 Years

For 10 years I knew I was getting weaker, my legs not being as strong as they should be despite lots of Pilates and cycling. But no one else really believed me until I was strength tested on an exercise machine. Then began the rounds of doctors and tests, everyone still flummoxed.  A respected specialist eventually clinically diagnosed me with the Limb Girdle Muscular Dystrophy but at the time genetic tests were very expensive and there was no treatment for this dystrophy anyway.

I was diagnosed purely by chance through Genetic testing in 2023.  Originally diagnosed with Limb Girdle Muscular dystrophy (LGMD) about 8 years before that, the doctors wanted me to join a worldwide MD study.  So genetic testing had to be done and surprise, surprise I have a totally different disease – Pompe

Originally the diagnosis was very scary.  The muscular dystrophy I supposedly had was benign, not painful and maybe I’d end up in a wheelchair.  This Pompe could be life threatening and can affect your heart and lungs.  But the upside was there is treatment that might slow it down, but at incredible cost.  Once I had my head around the change of diagnosis I was determined to find out as much as possible which is my way of coping. I applied to my medical aid and was turned down without discussion – a real blow.  But fortunately, at the same time I found out about Rare Diseases South Africa and Kelly du Plessis.  What a confidence boost and lifesaver this was as Kelly took over dealing with the medical aid.

Whether Kelly is a miracle worker or just a determined honey badger who won't take no for an answer, I don’t know.  But medical aid did a turnaround and agreed to pay for the enzyme replacement therapy (ERT) that is needed.  

I feel like there were angels at work as another Pompe Sufferer also lives in the Western Cape and recommended a wonderful caring neurologist.  He was so positive, said his aim was to keep me out of a wheelchair for the rest of my life.  Not only that but after 3 months of ERT in hospital, he was determined I should get a port and learn to do the infusions on my own.  I have now done 72 infusions in total and can flex them to suit me, do my own mixing and insert my own port needle.  The belief in me from Rare Diseases SA and my neurologist, as well as the nurse who trained me, have let me lead a fulfilled and flexible life, and given me my independence.

I live day to day now, try to eat the right food, do the exercises and then just get on with life.  Life is good.