It is very clear to me that the Pompe disease patients I have come into contact with from overseas, especially America and the United Kingdom, have much better equipped medical professionals assisting them to find a diagnosis early on and then getting them onto a treatment plan as soon as possible.
It took me over 10 years, at a huge cost, before I was introduced to the Rare Diseases South Africa (RDSA). Unfortunately, if you are not on medical aid in South Africa, there is very little hope that you will find the answers you are looking for and obtain the treatment that you need to live a potentially normal life.
I was diagnosed with Pompe in 2016, after a decade of struggling not only for a diagnosis but also gaining access to life-saving medication treatment, which most certainly saved my life only 5 years ago. Pompe is a very rare glycogen storage disease in which my body is missing the enzyme which breaks down glycogen in the body.
Glycogen fuels the entire body. My body has no problem storing the glycogen but struggles to break it down to use it as fuel. The excess accumulation of glycogen causes damage to the body’s cells as well as when the body looks for glycogen and it cannot break it down. As a result, the excess starts to break down muscle tissue, which causes a great deal of pain and muscle trauma at a cellular level.
Read about experimental therapies for Pompe
So let us talk about the RDSA. Yes, a lot of things are rare in South Africa, from water to electricity, but among the biggest struggles is living with a rare disease. According to RDSA, there are approximately 7000 different rare diseases, and there are approximately 3.7 million South Africans living with a rare disease, and the majority of them have yet to be diagnosed.
The most beneficial treatment for a rare disease is to be diagnosed as early as possible before the disease has progressed and you cannot reverse the damage your body has undergone. Unfortunately, due to limited expertise here in South Africa, this is not always possible and is often too late. Not only because of lack of expertise but the cost implications on patients to find out what the diagnosis is, the testing procedures are often too expensive and unaffordable. This then leads to them not being diagnosed and often living in pain their entire lives.
My life’s mission is to help others to be diagnosed quicker, to find treatment faster, and learn from my journey so theirs is not as long. “South Africans living with a rare disease should have access to more affordable healthcare services,” stated Kelly du Plessis, the CEO of RDSA.
We are always a step behind other countries when it comes to healthcare services, especially for someone living with a rare disease. To this day, I mix my own medication, because I don’t trust anyone else to do it; if they do it wrong, it could literally be the death of me. So not only do I sit with a drip in my arm for 6 hours every second week, I still have to mix the medication which takes over 2 hours to do so. Unfortunately, we do not have the extra resources to train nurses to mix these medications and they do not have the time in their day to do it.
Hopefully, my journey will help others to save money and time as well as find ways in which they can live with their disease, be diagnosed early, and have full, happy lives.