International Pompe Day falls in April, and aims to raise awareness of Pompe Disease. Pompe disease is a rare genetic disorder that causes progressive weakness to the heart and muscles, with mutations in the gene that makes an enzyme called acid alpha-glucosidase (GAA), which the body uses to break down glycogen (a stored form of sugar used for energy).
In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme, which causes a build-up of glycogen that can seriously damage the muscles and heart. The severity of the disease and age of onset – which varies widely – is related to the degree of enzyme deficiency.
Pompe disease is classified into two groups: infantile and late-onset:
- The infantile form is caused by the complete or near-complete deficiency of GAA. Symptoms begin in the first months of life.1
- Late-onset (juvenile/adult) disease results from partial deficiency of GAA, and can begin as early as the first decade of childhood or well into adulthood. The heart is usually not involved.
It is crucial that Pompe disease is diagnosed as quickly as possible, in order to optimise its management, and to try and ensure the best possible outcomes.
Signs and symptoms
Kelly du Plessis, CEO and Founder of non-profit organisation, Rare Diseases SA (RDSA), says that they are seeing an increasing number of adults being diagnosed with Pompe disease lately, and that it’s important for the public to be aware of the signs and symptoms. “In adults, symptoms include difficulty walking, particularly up stairs or inclines, recurring chest infections, being very fatigued, finding that your arms are getting weaker when you try to reach something on a top shelf, and falling over quite often. If you are battling with these types of symptoms, get checked out – because early intervention is critical to better outcomes,” says du Plessis.
In infants, symptoms begin in the first months of life, with feeding problems, poor weight gain, trouble breathing, muscle weakness, an enlarged heart, floppiness, and head lag. Many infants with Pompe disease also have enlarged tongues.
Getting a diagnosis of Pompe disease
According to du Plessis, getting a diagnosis of Pompe disease is no simple matter. Her son has Pompe disease and her struggle to get a diagnosis was what led her to start RDSA in order to advocate for patients with rare diseases. Du Plessis was a first-time mom when she started noticing issues with her infant son, Juan. When she raised the matter with her doctor, he thought she was the one who had issues and diagnosed her with postpartum depression.
Du Plessis points out that the difficulty for parents who may have concerns that there might be a problem with their kids, is that Pompe disease manifests in many different ways. “There is not one specific thing that you can pinpoint. For example, my child took longer to reach his milestones, and got slower as time progressed. He was losing coordination in holding his bottle, and wasn’t rolling over. As parents you are told that ‘no two kids are the same’ and you wonder if you are imagining things. But always trust your gut – rather be overcautious than under-cautious – because early identification is critical to a positive outcome, and you can’t make up for, or reverse any damage that has been done.”
Du Plessis’s message to other parents is: “Remain hopeful, because your children rely on you for that support and resilience. Keep going. I don’t encourage doctor-hopping, but if you do feel that you are being gaslighted, you need to find a doctor who you feel is listening to what you are saying.”
Treatment options
Enzyme replacement therapy (ERT) has been available since 2006 for all forms of Pompe disease, and has dramatically changed patient outcomes. This life-changing therapy is more effective when started before the onset of symptoms.3
Monique Nel, Medical Advisor – Rare Diseases at Sanofi, says: “Pompe disease is a rare genetic disorder that can have severe consequences if left untreated. Early screening for Pompe disease and prompt treatment is crucial to prevent or delay the onset of disease complications. Therefore, healthcare providers must consider Pompe disease as a potential differential diagnosis when evaluating patients with muscle weakness, respiratory difficulties, and other related symptoms.”
Du Plessis continues: “Medication is available in South Africa – and within weeks you see a difference in the patients, and they have a lot more energy. We advocate as much as is necessary to get the patients approved for medication, since this treatment changes their lives and quality of life – and in fact saves their lives.”
Du Plessis advises people with Pompe disease to do everything they can to keep their body as healthy and as functional as possible: “We need to do everything we can 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.”
For more information, visit: www.rarediseases.co.za