After a decade of searching and being handed off from physician to physician, I was finally given a clear diagnosis of having adult-onset Pompe disease. This glycogen storage disease is associated with skeletal muscle weakness causing mobility and respiratory system problems.
Now that I was diagnosed, I asked the physician, “What is my prognosis for the future?”
The doctor explained the disease and how it is affecting my body. He also explained that there is no cure and that treatment is extremely risky because I may have an allergic reaction to the medication and that medication could be fatal. He further explained that the medication is extremely expensive and he was unsure if my medical aid would approve it.
I was faced with a diagnosis that felt more like a life sentence with no positive outcome in my future. This was an extremely depressing and harsh reality to face at the age of 26 years. I was trying to come to terms with how much longer did I have and what will happen to my body as the disease progresses.
Through my reading of articles, medical journals, and other patients’ stories I found that there are many others going through the same process and grief as me. By some chance of fate, my cousin cycled in a big race for a charity in Johannesburg, South Africa. The charity was called, “Pedalling 4 Pompe.” He phoned me after the race and explained that there is a lady with Rare Disease South Africa NPO who could help me.
I had a long phone call with this incredible lady, Kelly du Plessis, whose son has infantile onset Pompe disease. She explained that the treatment for Pompe disease would most certainly help me a great deal and that it is not as risky for adults as it is for kids.
It was then I realized that the physicians I engaged with also did not know a great deal about these rare diseases and this was now an opportunity to help the doctors who had been searching for a diagnosis for me to become better at diagnosing and assisting these patients.
The relationship with my specialist then became a 2-way avenue of helping each other to achieve the ultimate goal of receiving treatment that could improve my health and overall quality of life.
Read more about Pompe disease etiology
The process then began to work with my doctor to get various tests done and compile a case to put forward and motivate me to obtain approval of this very expensive medication from my medical aid. When I say expensive, the cost for having Myozyme enzyme replacement therapy every year is north of $300,000.
The tests took some time to get done as the medical aid would not cover certain tests, so I had to save up my salary whilst working as a teacher and then do the tests once I could afford them. This process started with many vials of blood, then x-rays, onto MRI scans, then more invasive muscle biopsies, and skin fibroblast testing.
Initially, I was denied approval for treatment by the medical aid even though this disease falls under the prescribed minimum benefits classification of my medical aid. They kept asking for more tests to be done and the tests became more expensive each time. Once I started working closely with my doctor, the process became more streamlined and he really helped a great deal in pushing for tests to be done with urgency.
This task of obtaining life-changing medication continued for just over a year before I was granted treatment. All the while my body was continuing to become weaker with symptoms starting to show diminished lung function and muscular atrophy. It regressed to such a stage where I was unable to climb the stairs to get to the classroom that I taught in.
My doctor spent many hours helping me to get very specific and difficult testing done, then compiling medical reports to put forward as motivation to send to my medical aid. Without his help and working together, I do not believe I would have achieved the same result if I was trying to fight my case on my own.
Since receiving my very first treatment via an intravenous drip every 2 weeks, my muscles and lung function have slowly started to improve and get stronger, which has allowed me to have an improved quality of life.