I have been diagnosed and living with a very rare glycogen storage disease known a Pompe disease for the past 6 years. It affects the fueling of all of the muscles in my body, especially the vital core muscles of the heart and lungs that regulate everything else inside my body.
I now have to receive an infusion treatment via an intravenous drip every 2 weeks for the rest of my life. It has been quite a process adapting to these significant life changes, and finding a balance is always a struggle. I have learned to adapt my diet and exercise regime to help give my body the best opportunities to heal from any trauma caused by the disease and then slowly build myself back up to be strong enough to still be able to cycle, swim, or surf with my friends.
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I asked my brother, who moved from overseas to live with me, some questions to give a clear image of how these life adjustments can affect others close to me as well. What is it like living with your brother as he struggles with his rare disease?
Living with my brother has been a real eye-opener and heaps of fun at the same time. I am blown away by how determined he is and how much effort he puts into everything that he does. We are very close and enjoy many of the same interests; it’s always a highlight of the day when we pack the boards in the car and go on a surf mission. If there are no waves, then it’s grabbing the mountain bikes and heading into the valley trails or an ocean kayak, where we often are paddling amongst pods of dolphins.
He inspires me and others around him to keep pushing the boundaries in how we think of our capabilities and limitations. He truly embraces living each day to the fullest and appreciating all the good things in his life. He is very dedicated to the athletes that he coaches and spends many hours planning their individualized training plans and conducting training sessions for them.
After I spent years living overseas, I saw what he had to go through about taking his medicine on social media. Now living with him for the past few months, I understand even more what he goes through every day. I enjoy helping him when I can, but it’s always a long slow process of mixing the medicine. We must be extremely careful to ensure the area is completely sterile, as any complications can be fatal for my brother.
I’ve also realized how painful it is for him with all the injections and headaches the medicine can cause. He often has to stop working and just lie down as he does not feel well, but once his infusion is done, he always goes straight to the ocean for a quick swim, as he says it resets his body to start feeling normal again.
My brother is very good at listening to his body; he usually does 2 different training sessions a day as it helps his body develop and slows the effects of the disease, but he often has to skip some sessions when he is experiencing disease pains. When he feels fit and strong, he is 1 of the most talented athletes in cycling, swimming, running, and surfing, with various trophies in his cabinet.
He often wakes up in the morning with disease pains and will have to skip his training session as he knows it will be detrimental to his body if he trains and his legs seize up. There is a lot of muscle damage when his legs do seize up, and it takes him weeks, months at times, to repair the damaged muscles and get him back to where he was before the muscle trauma.
Daily, he is very calculated about his hydration and nutrition. He has explored many different eating plans, and the 1 he has had the most success with is a plant-based diet. I have learned through him how important your hydration is and to be fueling your body with the right amount of electrolytes and energy, which is crucial for performance and recovery.
A massive challenge for him is being available for his bimonthly treatment; he can’t just travel with the medicine as it needs to be stored in specific conditions. It’s also challenging for him when he has the drip administered; just making a cup of coffee takes a long time as he needs to walk around carrying the drip stand, making things complicated.
The hardest challenge I see him dealing with is having to arrange all of the medical supplies for his infusions, all the syringes, needles, sterile trays, IV bags; the list goes on. Despite his already busy working demands, he always seems to arrange these extras weekly.
