Receiving a diagnosis of Pompe disease can be an overwhelming experience for patients and their families. It often comes after a long journey of misdiagnosis, as the symptoms can be variable and overlap with other conditions. The initial shock and uncertainty can lead to a rollercoaster of emotions, ranging from sadness and fear to determination and hope.
It took me 10 years of struggles and being misdiagnosed by so many before I was finally given an answer that I could then learn how to find the best way of managing this condition. My first thoughts once diagnosed were, “Is my life done?” and “How much longer do I have to live?”
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Pompe disease, also known as glycogen storage disease type 2, is a rare inherited disorder that affects the body’s ability to break down glycogen, a complex sugar. This leads to a buildup of glycogen in the body’s cells, most notably in the muscles, causing progressive weakness and damage.
In this column, I delve into what it is like living with Pompe disease, highlighting the challenges, triumphs, and resilience displayed by individuals living with this rare condition.
Living with Pompe has presented numerous challenges daily. Fatigue and muscle weakness are constant companions, interfering with even the simplest of tasks. I often need to carefully plan my daily activities to conserve energy and manage my symptoms effectively. The progressive nature of the disease can also lead to loss of mobility and independence, this is one thing I have feared tremendously as I was once in a wheelchair when I was younger due to having Guillain Barre-Rae syndrome.
A crucial aspect of living with Pompe is adhering to a comprehensive treatment plan. The gold standard treatment for Pompe disease is enzyme replacement therapy (ERT), which involves regular infusions of the missing enzyme (acid alpha-glucosidase) to break down glycogen. While ERT can help to slow the progression of the disease, it does not guarantee a complete reversal of symptoms. Regular medical follow-up visits, monitoring, and adjustments to treatment are necessary to ensure the optimal management of symptoms.
It took me a year of motivation from the doctors before I was granted this ERT treatment by my private medical aid scheme, it is so extremely expensive for the medication and it has to be handled with great care. There is also the added risk of reacting to the medication, which in turn would mean that the treatment could cause further damage and not assist me at all.
The impact of Pompe extends beyond the physical realms, affecting emotional and mental wellness. The uncertainty surrounding the future, the limitations imposed by the disease, and the constant need for support can take a toll on patients’ mental health. Building a strong support network of family, friends, and fellow patients with Pompe disease can provide a foundation of encouragement and understanding.
I am always in constant communication with other rare disease patients from all around the world to hear about their stories, struggles, and more importantly, their successes, which I feel we are all able to learn a great deal from one another. Perhaps even use some of these successes to experiment with their treatment plan.
Despite the many challenges posed by Pompe, patients demonstrate remarkable resilience and determination. Many individuals living with Pompe become advocates for themselves and others, raising awareness of the disease, engaging in fundraising efforts, and participating in clinical trials. Their courage and determination inspire hope within the Pompe community and the broader rare disease community as well.
Living with Pompe disease presents unique challenges to patients and their families. From the initial diagnosis to managing daily struggles and seeking medical treatment, individuals with Pompe disease exhibit immense strength and resilience. While the road may be challenging, patients find solace in their support networks and medical advancements. Recognizing and understanding the patient’s perspective is essential in providing the necessary care and support individuals with Pompe require to navigate their journey with this rare condition.