Joining a support group can be an invaluable resource when navigating life with Pompe disease, a rare genetic disorder that primarily affects muscle cells.
Pompe support groups provide the opportunity to connect with others in a similar situation. They can provide emotional support and friendship, offer practical advice about disease-related difficulties, and highlight useful resources.
Healthcare providers are often the best place to start when seeking a local support group, while there are also a number of national and international Pompe associations and organizations.
Support groups are available both in-person and online for young people and adults with Pompe disease, as well as their caregivers. These groups provide an opportunity for people to share advice and practical tips about the challenges posed by living with Pompe, and to be a part of a community that understands each other’s journey.
Receiving a Pompe disease diagnosis can take time, as its symptoms, such as muscle weakness and heart disease, also occur in other health conditions.
Enzyme replacement therapy is currently the only treatment for Pompe that addresses the disease’s underlying cause. There are two medications approved for use in the U.S.:
Lumizyme (alglucosidase alfa) works to ease breathing and improve motor function.
Nexviazyme (avalglucosidase alfa) has been shown to ease breathing and improve walking ability.
Both are marketed by Sanofi and are intravenous (into-the-vein) infusions that deliver the acid alpha-glucosidase enzyme to muscle cells, which help lower glycogen levels, and slow the progression of the disease.
Experimental therapies undergoing clinical trials are looking at enzyme replacement therapy plus a stabilizer, gene therapy, substrate reduction therapy, chaperone therapy, and stimulation of lysosomal exocytosis.
People living with Pompe disease and their families can face financial strain as they pay for medical bills, including for critical care.
A 2019 study showed the average annual cost of supportive therapy (excluding treatment) for a person with late-onset Pompe was $28,489, with nursing home admissions accounting for 19% of annual medical costs.
The following organizations may be able to offer financial help:
The Assistance Fund is a charitable foundation that helps Pompe patients and families facing high medical out-of-pocket costs.
The Pan Foundation offers financial assistance to help people with serious illnesses afford their out-of-pocket treatment costs and improve their quality of life.
Sanofi, the pharmaceutical company behind Nexviazyme and Lumizyme, offers a Care Connect service to help Americans with financial assistance on eligible, drug-related expenses, including insurance and deductibles.
Rare disease forums and conferences bring together people living with Pompe disease, healthcare providers, researchers, and patient advocacy groups.
International Pompe Day is held annually April 15, with activities happening around the world and a World Symposium on lysosomal diseases, including Pompe, is held in the U.S.
It is important to always seek the advice of a healthcare professional first, as online content is not a substitute for professional medical information.
Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.