In the US, there are approximately 7000 rare diseases affecting between 25 and 30 million Americans, according to the National Institutes of Health (NIH). That’s 1 in 10 Americans. In the US, a disease is considered rare if it affects less than 200,000 people. Some other countries, such as those in the European Union, define a disease as rare if it affects less than 1 in 2000 people.
Where I live, there are 1 in 15 South Africans affected by a rare disease, according to Rare Diseases South Africa (RDSA). That is equivalent to 1 player on every rugby team. That’s more people out there affected by a rare disease than many would think.
I have been diagnosed and am living with Pompe disease so I’m considered a rare disease patient. Pompe is a glycogen storage disease, also known as acid maltase deficiency, an inherited metabolic disorder. Muscle weakness is usually the main symptom, affecting all muscles including respiratory and heart muscles, which help to regulate everything in the human body.
It took 10 years of severe muscle weakness and deterioration before I was finally diagnosed. In other countries, people are often diagnosed at birth if they have this type of deficiency. This can help prevent serious complications later in life as they will get placed onto a treatment protocol from an early age.
When I was finally diagnosed, quality of life in terms of fairly normal daily functioning was super challenging. Some days just getting out of bed to go to the bathroom was a real struggle and resulted in huge amounts of pain. My body seemed to be in severe shock and pain all the time. I explained it to others as having a massive cramp throughout my entire body but my muscles would not be tense at all.
Read about experimental therapies for Pompe
After a year of fighting with private medical aid insurance, I was finally granted treatment in the form of enzyme replacement therapy. This would be received via an intravenous drip every 2 weeks for the rest of my life. It is such a delicate and expensive enzyme that I had to be taught how to mix this medication myself. This is because if someone else mixes the medication and rushes the process it could lead to anaphylactic shock and possible death.
My health care providers simply did not trust anyone randomly to take the necessary care in the mixing process. So I was trained to do the mixing process which takes around 2 hours of very hard concentration and having a very delicate hand. The medication comes in vials according to your body weight. So, a person who weighs 165 lbs will have to mix 28 vials of medication.
This requires 28 needles, syringes, water for injections, alcohol cleaning pads, and a 1 liter IV bag, as well as everything that is required to create a very sterile mixing environment. Learning how to mix medication that is lifesaving for my body yet at the same time could kill me if I am to do something incorrectly, is extremely daunting and not a skill I ever thought I would have to learn in my lifetime.
Many individuals who have to have an IV infusion so often would opt to have a port placed into their chest so it makes delivering the infusion easier to do by themselves. I opted to not go that route as I still do my best to continue participating in extreme sports, such as surfing and mountain biking. It is very easy to perhaps injure myself and that could drastically affect the port site and cause many more complications.
I am a sports coach and owner of a coaching academy called Aspire LiveFit, yet at times I feel like I am a nurse with all those mixing skills, as well as sometimes a doctor in trying to figure out what is happening to my body with Pompe disease symptoms.
I truly hope this will help others out there realize that rare diseases are not as uncommon as many of us think and we could all help others in finding a possible diagnosis and obtaining a higher quality of life.