A diagnosis of Pompe disease can take years and patients suffer with pain and weakness in the meantime.
Once I had to go to the hospital just for electricity to plug in my breathing machine because a thunderstorm knocked out my power.
It is very clear to me that Pompe disease patients from overseas, especially America and the United Kingdom, have superior medical options.
Pompe disease was discovered in the early 1930s when infants died months after birth from weak hearts.
I have spent a great deal of time trying to be an advocate for those with Pompe disease or another rare disease.
Being rare not only means you learn to perform new techniques and skills but also that the people around you may have to alter their lives to assist you.
The world is definitely stressful and I can lose my mind if I don’t have self-love and happiness.
As a young woman with Pompe disease, I look back at what I’ve been through and say I wouldn’t have overcome my challenges without my parents.
Pompe disease makes patients prone to respiratory infections, and it’s very easy to go from a minor cold to pneumonia.