I was a successful, 26-year-old woman living life on the go. Around this time, I started feeling like I had weights on my legs, and my body was heavy. I had difficulty getting in and out of the driver’s seat. I put it down to my change in lifestyle-perhaps I had put on weight. It never occurred to me that I was unwell. I thought it was normal and altered my lifestyle in an effort to make things better. I switched to a healthier diet and started exercising. However, by the time I was 31, I couldn’t stand up from a chair without using my hands or climb stairs without support. As well as the weakness, I was out of breath and my heart was pounding. I was literally gasping for breath going upstairs. Still, I made excuses to my family, I had gained weight and my body was recovering after I quit smoking.
I finally acknowledged that I needed medical help when I was 33. My daughter and I went on a trip together. I fell while trying to board a bus and two strangers had to help me up. I can’t describe that humiliating feeling of helplessness. Eventually, after a long series of tests, I was diagnosed with late-onset Pompe disease. I felt relieved to finally have an explanation for my condition. At first, my relatives found my diagnosis hard to accept, especially my partner. Nevertheless, our relationship grew stronger. He proposed to me, and shortly after we were married.
Despite the limitations of Pompe disease, I continue to work and live my life as normally as I possibly can. I have a new hobby knitting soft toys, which I like to call “yoga for the brain”, because it’s so calming. I consider myself lucky to have found doctors who were able to diagnosis a rare disease. I am grateful for my life and for my family.