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The endless question I ask myself every year is why must I prove that my disease has not magically disappeared. It’s when you are made to feel like an inconvenience to the medical community charged with paying for your care.

I was diagnosed with Pompe disease 5 years ago. Upon receiving my diagnosis, I was then denied life-saving treatment from my medical coverage. Pompe disease is a rare inherited disorder caused by the buildup of the complex sugar, glycogen, in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

Every year I have to undertake a long list of tests to prove that my Pompe disease is still my dark passenger, that it still lurks within my system, and that it still causes me pain every day. I would love nothing more than for it to be gone forever.  

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The tests I have to do every year are lung function tests, leg and arm strength tests, and a huge array of blood tests, including the original genetic test that helped diagnose me originally. I must have these tests before I can get the medication that has saved my life. I have very gratefully been granted Myozyme enzyme replacement therapy, which is the medication I receive on a bi-weekly basis. It took me over a year to get approved for this treatment, which I could not afford on my own, once I was diagnosed. 

While organizations, such as the National Organization of Rare Disorders (NORD), have been enormously helpful in understanding my disease, the constant uphill battle to get my medication is a nightmare. It is also a source of huge stress I wish rare disease patients did not have to deal with. 

After being diagnosed and granted treatment for my disease, I would have to prove every year that I still had this rare disease and it had not magically disappeared overnight, something I find ludicrous.   

Read more about therapies for Pompe disease

So every year I have to do the same tests and pay for them out of my pocket because proving that you have a disease is not part of your prescribed minimum benefits. I usually have to do this test as the authorization year expires, which leaves me with a month or more of not getting my medication due to the time it takes to get this approved.  Within this time medical aid saves a great deal of money. But in the interim, I sit in pain for a month. And that causes huge amounts of muscle trauma and breakdown. 

Over and above this I have to now fight with my medical aid to pay the nurse that comes to my home and inserts the needle. The struggles are endless, so having a rare disease not only means you have to deal with something that is killing you every day but you have to fight for the treatment to survive, fight for the help you need to have a better quality of life. 

Don’t get me wrong, if I did not have coverage, I would never be able to gain access to life-saving treatment. Rare diseases need to become less rare to medical professionals, and that is why I am so passionate about encouraging health care providers to understand that there are people like me out there, and others who suffer a lot more than me.