I have tried to reach out and make contact with many other Pompe disease patients from across the globe through the rare disease advocacy I strive to develop. I always knew diagnosis and treatment protocols would vary in different parts of the world, but I did not realize how far apart the processes were.
Early diagnosis and action to obtain the correct help or treatment for a rare disease could mean the difference between life and death. It is scary how far apart the various medical departments are across the globe.
What follows is a recap of a conversation I had with Shanta Joiner, 33, who lives in Atlanta, Georgia, a far cry from my home in Port Elizabeth, South Africa. We compared notes and stories on how we got diagnosed, as well as how our symptoms are similar, but more importantly, how they differ. This also helps to gauge the progression of the disease in our bodies. I have learned a great deal about how different our health care and support systems are, as well.
Read about HCP resources for Pompe
Pompe is a rare genetic disease that causes excess glycogen to build up in the body. This excess, as well as the inability to break down glycogen, causes severe muscle trauma and weakness in the body, especially in the heart and lung muscles.
I’m 34 years old, so Shanta and I are in the same age group. We both have been diagnosed with Pompe at roughly the same time in our lives. I was eager to learn more about her experiences. And I’m grateful I can share them here.
Q. What was the reaction from your family and friends when they found out about your disease?
Shanta. I’m not even sure, I have not really told anyone of my friends and I have been a hermit in this situation, staying at home a great deal since being diagnosed.
Bruce. My family and friends have always been super supportive from the beginning. I told them right away. And because it is so rare nobody, including myself, really understood what it was and how it would affect me in the future.
Q. Are you able to do any exercise?
Shanta. Yes, but with restrictions.
Bruce. Initially, when first diagnosed I was barely able to walk to the bathroom let alone any exercise. Over time and with the consistency of trying to perform some form of exercise every day, my body has slowly developed back to a point where I can exercise again but in a very calculated and controlled manner.
I always ensure that I am monitoring my heart rate to not go into a high-intensity zone where my body would require glycogen. Training my body to be more efficient at burning fat mainly as a fuel also made a massive impact in assisting my body to recover.
Q. Had you ever heard about Pompe before diagnosis?
Shanta. Never in my entire life.
Bruce. I also had never heard of Pompe disease. In fact, many doctors I dealt with had never heard of Pompe disease and they had to research it.
Q. Does your medical aid pay for your treatment?
Shanta. Yes, I have a team from Emory (University hospital) who is on my side and a special liaison handles getting my insurance approved. Last week the infusion center called to warn me that future appointments had been canceled due to my insurance not approving them. I called Todd (my Emory point person), and he was able to get it handled within 24 hours.
Bruce. Yes, thankfully they do cover my treatment as it is extremely expensive. However, it is always a constant struggle every single year to perform a barrage of tests and scans for them to approve the treatment. I had to fight for a year before I was approved to get the enzyme replacement therapy.
Q. What is the monthly cost of your treatment?
Shanta. Not sure.
Bruce. My medical insurance is always making me aware of how much it costs for a single month of treatment. It costs $25,900 (USD) per month just for my medication, and that does not include all the needles, syringes, IV bags as well as the medical personnel who have to cannulate my vein every 2 weeks for the treatment.
Q. With 1 being the lowest and 10 being the highest, how would you rate the level of pain you are in every day?
Shanta. To be honest, I am not even sure about the pain anymore. I’ve dealt with it for so long it’s hard for me to know when I’m really in pain. I only acknowledged the pain when I can’t any longer take walking strides.
Bruce. Initially, when I was first diagnosed, I was in a great deal of debilitating pain that would render me unable to walk at times. The day-to-day pain I feel is something I have grown up with, so I always thought everyone’s bodies were this tired and sore all the time just like me from everyday living. Knowing now that Pompe disease is causing most of my pain, I rate that I am at a level 6 out of 10 in pain every single day and then some days are far worse than others and I struggle to function normally because of being in so much pain.
Q. Is there anything you can suggest that would help Pompe patients cope with this disease?
Shanta. Keep your mind open. Don’t write yourself off after the doctor gives you all the symptoms you may experience. Therapy will maybe help, but you should definitely talk it out with a professional.
Bruce. I do believe it is also important to speak to others about how you are feeling as every day is different and it is important others know what you are going through. Just by looking at someone with Pompe disease you could not notice anything particularly wrong with them from the outside.
I always tell other Pompe patients to not give up on trying to achieve a better quality of life, through consistency of exercise and big adjustments in their diet, they can strive to work toward a stronger whole self. Strive to take on the challenge of climbing that mountain, swim across that river, and do not just be a spectator in your life.