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I am a 35-year-old citizen of South Africa, where medical technology and medical specialists are a rare commodity. This is not to say that we do not have some of the best doctors or specialists, but most of them leave our country to go and work abroad in other countries, as it can be very challenging dealing with our medical boards and health schemes. 

In 2015, I was diagnosed with a rare genetic disease called Pompe disease. It took me 10 years to get diagnosed so finding an answer to my condition was an absolute game changer in a way that was far more profound than I first thought. When I was diagnosed and the doctor was explaining to me what Pompe is, he read from the internet what it said about Pompe disease. Not many practitioners know about this disease or the steps forward in assisting a patient in obtaining treatment or help for the condition. 

If I had to go to any doctor or specialist here and mention to them that I have Pompe, many of them would look at me very puzzled and ask what it is. I knew I had to be vigilant in doing my own research and looking out for myself. Increasingly, I expanded my knowledge by accessing the various platforms of medical journals, articles, and related social media to find out more about Pompe and how best to manage my condition.

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Read about the diagnosis of Pompe

I first started educating myself on what Pompe is, a glycogen storage disease. Thankfully having a sports science degree, I knew exactly what glycogen is and how the body stores it to use as its essential fuel to assist the fat fuel source to keep our bodies functioning optimally. I learned that glycogen is important in providing energy to our core body muscles and heart and lung muscles that regulate all other organs in our body.

I was very grateful to have my cousin do a cycling event for a rare disease charity. He got Kelly du Plessis, chief executive officer and founder of Rare Diseases, South Africa, to phone me, and she could explain a lot about Pompe to me and how obtaining treatment could help me live a relatively better quality of life. When I spoke to my doctor previously about this treatment medication, he mentioned it was extremely expensive and very risky since I may have an allergic reaction to the medication and die. 

Kelly was instrumental in assisting me to start the process of trying to obtain this Myozyme® medication treatment.

I continuously research every month any new articles or information out there that people are experimenting with new drugs or treatment protocols to try and assist people with Pompe. Making use of Rare Disease Advisor has been a massive help in streamlining all the latest and important information about this disease. I have learned a great deal about how I could experiment with various diets, skills, or exercises that could help my body from being so affected by Pompe. 

The Myozyme treatment I am currently getting is a bimonthly infusion where I have to mix 28 vials of medication in a very delicate manner as the enzymes are extremely sensitive, and then I have the IV infusion, which runs for 5 to 6 hours. It is a very tedious procedure and has caused so much more complications within my work life. My planning has to be spot on and very long in advance if I am needing to travel at all for work. 

I continuously monitor the latest trends in clinical trials. One day, I hope they will learn how to make a treatment that could be taken once a month or even every 3 months. The way medical science is advancing so rapidly, I have hope that one day there will even be an oral medication that could deliver these enzymes.