In our modern busy world, many people are judged or draw conclusions about the way they look or the first impression they express to others. Yet each and every single person has a story of struggle, triumph, or anguish.
Often rare diseases are chronic and life-threatening and most rare diseases currently have no effective treatment. On average, receiving an accurate diagnosis of a rare disease takes over 4 years. When looking at someone with a rare disease, it is often not apparent that they are struggling or fighting a rare condition that threatens their life every single day.
Read more about Pompe disease diagnosis
I have been diagnosed with a rare genetic disease called Pompe disease, which is a glycogen storage disease that lacks the enzyme that breaks down the glycogen. The issue is in the lack of this enzyme as well as the excess accumulation of glycogen can also result in an overflow of glycogen into my body which causes severe muscle trauma to all muscles, most importantly my heart and lung muscles which can easily become weaker.
It took me 10 years before I was diagnosed. Throughout the 10 years, I kept on trying to pretend and act like I was normal like everyone else around me. After many visits to some of the best specialists, I was almost led to believe that what was going on in my body was all psychological, all in my mind one doctor said.
The doctor was so unsure as to what was causing my severe muscle weakness and trauma, that instead of admitting that he did not know what was causing my symptoms he tried to convince me that I was creating them in my mind. Yet each day I woke up in more pain, each day was another battle of whether I would make it through the day at work without a huge episode of pain and debilitation.
Once I was diagnosed, a year later I was able to receive life-saving medication treatment for my rare disease via an intravenous drip every two weeks which I will do for the rest of my life unless there are serious advancements in medical science and technology to treat my disease better. I now feel it is almost my duty to tell as many people as I can about my struggles with being diagnosed and how so many things that I have learned the hard way can perhaps help someone else get diagnosed earlier and onto a treatment plan to help them achieve a better quality of life.
Even now, after being diagnosed and receiving this treatment, I still walk around looking like a standard human with nothing visibly wrong with me or my body. Rare disease awareness creation is so very important as I believe there are plenty of rare disease people walking around trying to believe that their symptoms are normal or everyone else feels the way they do.
Perhaps by sharing my story with others, someone may even know other friends or family members who have been struggling with something and they could refer them to the rare disease organization to see if they can help get to the bottom of their symptoms or concerns.