For many, getting a rare disease diagnosis signals that most of the battle is already won. Sound strange?
Having a clear definition of what is causing the muscle breakdown and weakness in my body was the moment that gave me the edge. It gave me the opportunity to take at least some control over my health and the road ahead.
You would go further to think there must be some clear path to your next steps to treatment and rapidly get the help you need to slow the progression of your rare disease.
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You very quickly find out this is not the case. And the questions you have rapidly accumulate, while the answers are hard to find. I started with my doctor, who did not know much about my disease, Pompe, a rare genetic glycogen storage disease that causes lung and skeletal muscle weakness.
My doctor explained that there is treatment available for this condition but it is extremely expensive and dangerous. Further, if I was to receive this treatment, there is a good chance of having an anaphylactic shock and even dying from a reaction to the treatment.
Read more about Pompe disease therapies
I quickly made the decision to not attempt to get this treatment. I had to deal with the psychological blow of realizing that my body was going to slowly deteriorate until it would no longer function by itself and I would gradually worsen until my demise.
Within the space of a week, I went from a positive, happy viewpoint of knowing the diagnosis to deep depression at the fear of the unknown morbidity time frame with having this disease. Nobody was there to help make sense of this all, to put everything into perspective, and assist in the next step. Immediately I had to start dealing with decisions of drawing up my Will and the plan for if I was to quickly digress and be dependent on a ventilator or worse, in a coma.
I believed it was a miracle that my cousin cycled in an event for the rare disease South Africa non-profit organization called Pedalling4Pompe. He immediately put me in touch with the founder, and an incredible human being, Kelly du Plessis, whose son has Pompe disease. She explained to me that I should definitely be on the treatment as it will potentially save my life.
I soon learned how rare disease organizations are there to assist people in finding their diagnosis and supportive care to help obtain treatment and achieve an improved quality of life. They also put me in touch with many other patients who have Pompe disease. I learned a great deal about what others have been through and what has helped them.
It took a decade to be diagnosed, then to be denied medical treatment. I then had to start working closely with my doctor and the rare disease organizations to perform many tests, scans, and operations for my medical aid to try and motivate me to obtain this life-saving treatment.
This was another year of having to learn all about the medical processes in trying to receive life-long chronic medication that would ultimately save my life and assist in having an improved quality of life.
In this year before obtaining treatment, I started to experiment with some of the advice that other patients were giving me. It started with completely changing my diet and then performing some small form of exercise every day to slow the weakening of my body.
After a year of fighting with medical aid and accumulating a mountain of debt, I was finally granted treatment. This treatment is known as enzyme replacement therapy where they intravenously infuse the enzymes back into my body. This helps in breaking down the excess glycogen build-up in the body.
After receiving my medication, which is exorbitantly expensive, I then had to learn how to mix this medication. The enzymes are very delicate and sensitive. They determined how many vials I needed per my body weight. I had to then be taught how to correctly draw up liquid into syringes and then very precisely pierce the vial with the needle tip to ensure I do not affect the enzymes with liquid directly shooting into them.
This was a whole new set of skills I now had to learn. Drawing up 28 x 10ml syringes, piercing 28 x vials, rolling the vials slowly in my hand, as you cannot shake the vials to mix the enzymes, and then drawing up the medication back into the 28 x syringes, then administering into the liquids in a large IV bag with an exact amount of saline withdrawn from the IV bag.
I now have this treatment every 2 weeks, which takes approximately 2 hours to mix the medication, then 4-6 hours for the infusion to be completed; all the while still trying to balance and keep my job. It was extremely difficult to find this balance between family, friends, work, and now medical professionals.
There is no precedent on what is the best way forward when you get diagnosed with a rare disease. I was extremely grateful for the rare disease organizations stepping in and helping to work closely with the doctors to guide them as to the best way to assist patients like myself.
