January 2022
I am McKenna Wellner and I was diagnosed with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart. More 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 diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart. More. 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!
