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Coming to the realization that you have a rare disease may vary considerably from one person to the next. Some patients I have engaged in communication with, from all over the world, view their rare condition as a curse and constantly struggle with the usual questions that come about when we experience hardships in our lives, including “why me?” and “what did I do to deserve this?”

It took me 10 years of health struggles before I was diagnosed with Pompe disease. All this while I was experiencing a slow but constant weakening of my body’s muscles; most importantly the weakening of heart and lung muscles, which affected all my other organs tremendously. 

Other rare disease patients, including me, have been grateful to receive a firm, reliable diagnosis and finally be able to put a name to their declining health. Getting a diagnosis was not the best news I ever heard but being able to understand better what is happening inside my body shaped my treatment approach. The diagnosis empowered me to take some control over how I should manage my disease.

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Putting a name to my new dark passenger, Pompe, helped change everything in my life. I learned my body has a significant inability to break down glycogen in my body which causes my muscles to break down and be used as fuel. Also, the excess accumulation of glycogen causes poisoning and damage to my body at a cellular level. 

After learning that glycogen is the problem, I looked to drastically change my diet to cut out carbohydrates and sugars, which turn into glycogen in the body. This was difficult to do but being very disciplined showed great improvement in my everyday functioning.

Read about experimental therapies for Pompe

I was also advised to stop doing exercise as that could cause my muscles to break down faster and experience more trauma. I learned from a young age that daily exercise is essential. The age-old saying that 30 minutes a day is essential to keep healthy is true. So I ignored this and started walking in a swimming pool for 30 minutes every day. Over time I noticed that I felt a bit stronger from this and soon started to swim for 30 minutes a day, sometimes a bit longer when my body felt good. 

Since starting this exercise routine of consistently training every day, I have gained more confidence to start cycling and surfing again. My dark passenger, Pompe, causes many limitations but does not entirely control my life, not today or in the future. In fact, my doctors acknowledge that I have achieved goals they thought were not possible. 

This consistency over a period of time showed great progress, but there were days that were hard. The pain on those days was substantial. Overall, without realizing it at first, I was not only getting stronger and gaining some muscle mass back, but I was also gaining more confidence in my body’s ability to function under stress.