We think we are all the same, we are all humans waking up each day going to work. The average human will suffer a cold, flu, a virus, or possible injury but we are all the same. That’s likely what the average person thinks, until that is, they have been exposed to someone with a rare disease. Unless you are actually faced with the reality that you have a rare disease, it’s something we almost never think about.
My disease is adult-onset Pompe disease, so it only affected me later on in life. Once I finally got diagnosed, I realized how many people out there are suffering from the same disease, some a lot worse than me.
Read more about the etiology of Pompe disease
As a person living with a rare disease, the endless struggle to get treatment every year, the fights with medical aid schemes to prove that my disease has not disappeared overnight, is a yearly, constant battle. Some people are not so lucky. They don’t have a medical aid scheme to fight with to get treatment and have to suffer without.
If it wasn’t for the National Organization for Rare Disorders (NORD), these people would not get the care they need to make their lives better, bearable, and a little less pain-free. Some diseases are noticeable, others you would not even know how much the person is suffering unless he or she told you. In fact, I myself would not have realized the process it takes to get treatment and how many fellow rare disease warriors were out there if I myself did not have a rare disease.
The importance of rare disease month is to raise awareness that rare diseases are prevalent around the globe. I count myself among the lives NORD has saved, and the people they have helped to get treatment. I would not have survived otherwise. NORD has information about the origins of rare diseases and treatments many of our physicians don’t know about.
It took me 10 years to be diagnosed, going from doctor to doctor not knowing what was wrong with me. I was even told that maybe it is in my head. How could they not find a single thing that is wrong with me but I am in so much pain and can barely function or even walk? When I finally found a doctor who would listen to me, and eventually after so many years had a diagnosis, he told me that unfortunately there is no treatment for my disease, not knowing about the Rare Disease South Africa patient advocacy organization.
They told me that my disease was treatable and I would live a more comfortable and longer life with this treatment. The battles they have fought for me to get this treatment and ongoing battles with the medical aid are endless. I would not be where I am without the advocacy from this organization; in fact, I am not sure if I would be here at all.
Today, I live my life to its fullest trying to inspire others who have a rare disease. My mission is to show them that it is not a death sentence and with the fight left in them, their quality of life can get better.
On this Rare Disease Day, I encourage everyone to climb that mountain, swim across that river, catch that wave . . . do not be just a spectator. Because life is precious. And tomorrow may be a day too late.