Living with a rare disease can be an overwhelming challenge, and yet, through unwavering determination and resilience, I strive to inspire others while living with a rare disease. While residing in South Africa with Pompe disease, I face numerous obstacles. But I aim, along my remarkable journey, to conquer each obstacle at a time.
Pompe disease, also known as glycogen storage disease type 2, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a stored form of sugar in the body’s cells. Without the proper functioning of GAA, glycogen accumulates, leading to muscle weakness, respiratory problems, and impaired cardiac function.
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Just a few years ago, I received my Pompe diagnosis, which initially left me feeling confused and overwhelmed. Like many others living with rare diseases, I faced numerous challenges in understanding the condition and finding appropriate medical support in South Africa.
With ongoing research and advancements in medicine, treatment options for Pompe have improved significantly. My wife and I began a relentless pursuit of solutions that could help me with my condition. I was very fortunate to find a world-class team in South Africa that specializes in rare diseases. This team provided me with access to expert medical care, cutting-edge therapies, and a supportive network of professionals dedicated to managing Pompe.
Living with Pompe requires significant lifestyle adjustments. I have faced the task of redefining my daily routine and adapting to new limitations. Physical therapy became an integral part of my life, helping me maintain muscle strength, prevent further deterioration, and improve my overall quality of life.
My journey has been marked by both physical and emotional obstacles. The muscle weakness associated with Pompe can make simple tasks challenging, often causing frustration and discouragement. However, I have never been someone to shy away from hard work and through determination to overcome adversity, I reached new heights and broke through barriers no medical professional would have thought possible with having Pompe. I actively seek out support groups to connect with other individuals living with the disease and share my story with them to raise awareness and provide hope to those facing similar battles.
My journey with Pompe has been incredible and has helped propelled me to become an advocate for rare diseases. I utilize various platforms to share my experiences and educate others about Pompe disease. By leveraging social media, public speaking engagements, and engagement with local health organizations, I strive to become an influential voice in South Africa’s rare disease community.
Through continued resilience of never giving up on trying to perform some small form of exercise every single day, I continue to strive to inspire others living with Pompe in South Africa and across the globe. My journey certainly highlights the importance of early diagnosis, access to appropriate medical care, and the support of a strong healthcare network.
I hope my story serves as a reminder that with the right treatment, mindset, and support, individuals can live fulfilling lives despite living with rare diseases. Through self-advocacy work and willingness to share my experiences with everyone, I not only aim to raise awareness but also strive to ignite hope in those confronted with similar circumstances.
