April 15 is International Pompe Day, which aims to increase awareness of the condition. With mutations in the gene that creates the enzyme known as acid alpha-glucosidase (GAA), which the body utilises to break down glycogen (a stored form of sugar used for energy), Pompe disease is a rare genetic ailment that gradually weakens the heart and muscles.
The vital enzyme GAA is reduced or completely absent in Pompe disease, which results in a buildup of glycogen that can significantly harm the heart and muscles. The degree of enzyme deficiency is related to the severity of the disease and age of onset, which varies greatly.
Infantile and late-onset Pompe disease are the two subtypes. The entire or almost total lack of GAA results in the infantile variant. During the first several months of life, symptoms appear.
A partial GAA deficiency causes late-onset (juvenile/adult) disease, which can manifest as early as the first decade of childhood or far into adulthood. Usually, the heart is unaffected.
In order to optimise its therapy and attempt to achieve the best results, Pompe disease must be identified as soon as feasible.
Signs and symptoms
According to Kelly du Plessis, CEO and founder of the nonprofit organisation Rare Diseases SA (RDSA), more adults are being diagnosed with Pompe disease lately, and therefore it is critical for the general public to be informed of the disease's warning signs and symptoms.
Adults may experience symptoms such as falling over frequently, trouble walking, especially up stairs or inclines, recurring chest infections, extreme exhaustion, and weaker arms when attempting to reach items on high shelves.
Get evaluated if you are struggling with these symptoms because early intervention is essential for better results, advises du Plessis.
The first few months of a baby's existence are marked by feeding issues, poor weight gain, breathing difficulties, muscle weakness, an enlarged heart, floppiness, and head lag. The tongues of many newborns with Pompe disease are swollen.
Du Plessis says that determining a diagnosis of Pompe illness is not straightforward. She founded RDSA to fight for patients with rare diseases because her kid has Pompe disease and she struggled to get him diagnosed.
When Du Plessis began to notice problems with her young son, Juan, she was a first-time mother. She brought up the issue with her doctor, who assumed she was the one having problems and gave her a postpartum depression diagnosis.
The difficulty for parents who might be worried that their children may have a problem is that Pompe illness manifests in a variety of ways, according to Du Plessis. "There isn't just one thing that you can name. For instance, as time went on, my child became slower and took longer to attain his milestones.
He wasn't rolling over and was having trouble keeping his drink steady. Parents often hear that ‘no two kids are the same’, leading them to question whether they are hallucinating. But always follow your instinct; it's better to be careful than not enough because damage that has already been done cannot be undone and early detection is essential for a successful conclusion.“
Du Plessis advises other parents to "remain hopeful" since their kids depend on them for strength and fortitude. "I don't advocate switching doctors, but if you believe you are being misled, you should look for a medical professional who makes you feel heard."
Treatment options
Since 2006, all types of Pompe illness have been treated with enzyme replacement therapy (ERT), which has significantly improved patient outcomes. When this revolutionary therapy is started before symptoms appear, it works better.
Pompe disease can have serious repercussions if left untreated, according to Monique Nel, medical advisor for rare diseases at pharmaceutical company Sanofi. To stop or postpone the onset of Pompe disease consequences, early detection and treatment are essential. Therefore, while screening individuals with muscle weakness, respiratory issues, and other relevant symptoms, healthcare professionals must take Pompe illness into account as a potential differential diagnosis.
"Medication is available in South Africa," said Du Plessis, "and within weeks you notice a difference in the patients, and they have a lot more energy. We fight as hard as it takes to obtain patients their drug approval because it improves their quality of life and actually saves their lives."
Du Plessis advised Pompe disease patients to take every precaution to maintain their body's health and functionality: "We need to do everything now, with the treatments we have today, to keep ourselves as healthy as possible, so that we can benefit from the treatments that come tomorrow."
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