I am McKenna Wellner and I was diagnosed with Pompe disease at 19 years old and I am now 20. I first noticed symptoms the beginning of 2019 and was diagnosed October 1, 2020.
Towards the end of my senior year of high school, I noticed walking up the stairs became really hard. I was also having major lower back pains and later found out that my lower spine is deteriorating, but I did not know if that was associated with my leg pain. My thighs started to feel very tired and as if I had just run a marathon, but every day. I wanted to know why this was, but I did not know that meant I would be making multiple trips to the hospital.
I have had several MRIs and blood tests. They just were not figuring out what was wrong. I have had a muscle biopsy done as well as a nerve test. I had to wear a heart monitor for two weeks after performing breathing tests, and a heart ultrasound.
The doctors first thought I had MS, but they finally figured out I have Pompe disease. I started my Lumizyme treatment a month after and am now receiving treatment at home. Right now, walking upstairs, standing up, bending down, and even stepping up on to a curb is a chore.
It is a very painful journey, but there is not a day I am not hopeful!