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It was 6 years ago that I was barely able to walk upstairs. Every day was complete agony, living with extreme and unknown pain in my body that would cause so much weakness and fear of what was happening to me. After 10 years of struggling, I was finally diagnosed with Pompe disease.

Pompe, also known as glycogen storage disease type II, is a rare genetic disorder that affects the muscles and the nervous system. This condition is caused by the deficiency of an enzyme called acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in various tissues.

Pompe disease can manifest in different forms, with varying degrees of severity. However, recent advancements in Pompe research have brought about significant improvements in patient outcomes and quality of life.

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One of the key factors contributing to better patient outcomes is the development of improved diagnostic techniques for early detection of Pompe. Previously, delayed diagnosis was a common issue, leading to a delayed initiation of treatment. Today, there are a lot of newborn screening programs, and more cases of Pompe are being identified at birth or in the early stages of the disease. This early diagnosis, I believe, could make all the difference in helping improve a patient’s quality of life in the future.

Over the past decade, there have been remarkable advancements in the field of Pompe disease research, particularly concerning therapeutic approaches. Enzyme replacement therapy (ERT) has been the primary treatment for Pompe. 

Once I was placed on this ERT treatment, everything started to improve. I receive this treatment every 2 weeks via an intravenous drip. After just 2 to 3 months of the treatment, I started having my pain levels subside and then I began to have improved mobility and could start walking more as well as climbing stairs with caution.

Additionally, gene therapy has emerged as a promising avenue for Pompe disease treatment. Gene therapy involves introducing functional copies of the GAA gene into the patient’s body, enabling them to produce the enzyme. Recent clinical trials have shown promising results, with some patients experiencing sustained muscle strength and respiratory function improvement. These advancements offer hope for individuals affected by Pompe disease, improving not only their symptoms but also their overall quality of life.

Read about the diagnosis of Pompe

I always had the courage to dream and believe that we need to continue doing everything we can to assist our body in developing with having Pompe disease, as someday soon there will be much better treatments out there to help us and make our lives just that much easier. Who knows, perhaps even administering the enzymes orally in tablet form. 

There have been many means of trying to assist patients with Pompe such as multidisciplinary care teams consisting of specialists in diverse medical fields, including pulmonologists, neurologists, and physical therapists, working together to address the specific needs of Pompe disease patients. This approach ensures a holistic management plan tailored to each patient’s requirements, aiming to optimize their overall well-being and functional capacity.

Furthermore, advancements in respiratory care have significantly benefitted Pompe disease patients. Techniques such as noninvasive ventilation, cough assistance devices, and pulmonary rehabilitation programs have been instrumental in managing respiratory complications and improving overall respiratory function. These interventions help minimize the impact of respiratory symptoms on daily life activities, enhancing the quality of life for patients.

All of these improvements are amazing in medical science but we still need to get the very basics right of ensuring early diagnosis with the implementation of newborn screenings for Pompe. The earlier someone gets diagnosed with Pompe, the sooner they can receive help and support from healthcare teams. These research advancements along with early diagnosis will lead to a better future for the patient and a serious long-term improvement in their overall quality of life.