I have spent a great deal of time trying to be an advocate for those with Pompe disease or another rare disease. I have tried my best to raise awareness about rare diseases and the constant struggles we go through in obtaining a diagnosis, and treatment and even finding the correct caregiver to support us in finding the best path forward to a better quality of life.
I was diagnosed with Pompe disease in 2015, a rare (estimated at 1 in every 40,000 births), inherited, and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.
Read more about experimental therapies for Pompe
This energy is meant to fuel the body. Without this energy, my body will break down my muscles to use as fuel, which causes episodes of significant pain and occasional immobility.
I have had contact with many other Pompe disease patients and it is always interesting learning from them and their paths from diagnosis to treatment.
Recently, I had a conversation with Shanta Joiner, a 33-year-old patient living with Pompe, in Atlanta, Georgia. I am 34 years old and living in South Africa. We compared notes and stories on how we got diagnosed as well as how our symptoms are similar and, more importantly, how they differ.
Here’s a recap of that conversation:
Q. When were you first diagnosed?
Shanta: December 2021
Me: June 2015.
Q. How long did it take you to get treatment?
Shanta: After I was diagnosed, I received my first infusion treatment in February 2022.
Me: I received my first infusion in July 2016, over a year after being diagnosed.
Q. What support system do you have?
Shanta: My mom is my number one, she helps me daily and I truly appreciate her. I also have a team from Emory (University) who are great. They are always helpful when needed.
Me: I have never really had anyone in the form of doctors or medical specialists who were helpful in managing this disease. Pompe disease, being so rare, our doctors always seemed too busy to help me navigate the daily challenges that I started to face after being diagnosed. My wife, Tracey, and Kelly du Plessis, from the regional rare disease nonprofit organization, have been my biggest support team in assisting me through tough challenges.
Q. How did it make you feel when you were diagnosed?
Shanta: Relieved, because I knew something wasn’t right and I also felt shunned for my future.
Me: After 10 years of trying to find a diagnosis, just being able to put a name to what was happening inside of my body was the biggest victory in this ongoing battle living with Pompe disease.
Q. Do you follow a specific diet?
Shanta: Yes. I don’t eat certain meats and I try to eat a low-carb diet to try and minimize the excess build-up of glycogen in my body.
Me: Yes, I have experimented with many different diets from an extremely rigid no-carb diet to a high-fat, low-carb diet. The best results or experiences I have had with my body and Pompe disease is following a plant-based diet where I include many plants and vegetables, which have extremely high antioxidant levels. Cutting out dairy and meat has made a great impact in reducing the inflammation responses in my body.
Q. How do you stay in a positive mindset? What motivates you every day?
Shanta: Seeing others with Pompe thriving and living their best lives. That gives me the determination that I too can overcome or manage this disease.
Me: I am exactly the same. At first, I thought my life was very restricted and I would be bedridden until my demise. Connecting with others who have Pompe has given me so much hope and strength to continue fighting to improve my overall quality of life.