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I am a rare disease patient. When I mention those words, people tend to take a step back, and immediately look at me differently, preempting the worst before I have even told them about my rare disease or the many thousands of rare diseases out there. 

I was diagnosed with Pompe disease in 2015 at 28 years of age. I had been struggling for the previous 10 years to try to find the cause of my extreme muscle weakness and pain. I went from doctor to doctor, hospital visits to specialist visits, and still, not a single doctor here in South Africa could pinpoint what was happening to my body. 

Pompe disease is an extremely rare genetic disease caused by a gene mutation that results in my body not being able to break down glycogen, which is the fuel for your entire body’s muscles, including the core muscles of your heart and lungs. When my body cannot break down glycogen to use as energy, it will turn to tear apart my muscles to use as fuel and that, in turn, causes severe muscle weakness and trauma at a cellular level.

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Read about the diagnosis of Pompe

So it took me 10 years to get diagnosed and then another year of fighting with private medical insurance to cover the life-saving treatment that could potentially stop me from becoming weaker and have fewer complications in the future. I have spoken with many other patients with Pompe disease from all over the world, many of whom have been diagnosed at the age of 14 with adult-onset of the disease. Only a few others have been diagnosed later in life, like me, and for a smattering of others, the diagnosis was made in their 50s. 

I have had contact with some parents who have newborn babies who were diagnosed and told that they will have adult onset of Pompe. Their parents are aware of the disease and the associated symptoms, so when their child starts showing signs of these symptoms in the future, they can immediately be placed on the treatment that will assist their body in breaking down glycogen. 

Out of all the patients with Pompe disease I have spoken with, all those who have been diagnosed much later in life have had far more severe complications and struggles with the disease. These symptoms are often irreversible and some very debilitating. Our medical specialists, doctors, and hospitals are truly lacking something here where some patients can be diagnosed at such a young age and then obtain treatment much earlier in life.

My parents say, looking back now, they saw signs that I was very different from my friends when I was younger in terms of development and recovery after playing sports with my friends. When we would play a sports fixture, they would be able to play again the very next day, whereas I was almost bedridden in pain and weakness; at the time, they thought I just played harder than the others. 

If only we were all screened for various rare diseases from birth like many other countries do, I believe there will be a lot more individuals out there that will be spared the pain and suffering that many have had to endure in their life until their diagnosis.