Why is my body changing? Why can I no longer keep up with my friends when I play soccer? Do I really have to change my diet? These are some questions that kids with Late-Onset Pompe Disease (LOPD) may ask themselves.
Children with LOPD may experience muscle weakness that makes it hard to keep pace with other kids, especially when playing sports. They may also have to change their eating habits.
For these children, the changes they are going through can be scary, confusing and hard to accept, and it is often difficult for them to find a way to tell their friends about their disease. To help children learn about LOPD and give them the tools they need to talk about it with their friends and classmates, Sanofi Genzyme partnered with Jumo to develop a Medikidz book about the disease.
Medikidz is a well-established brand in pediatric healthcare education, and the Medikidz books are available for a wide range of diseases. The LOPD edition of Medikidz is available both as a physical book and a YouTube video.
Pompe disease is a genetic, progressively debilitating and often fatal neuromuscular disease that is estimated to be present in 1 in 40,000 births. Symptom onset can occur at any age from infancy to late adulthood. It is caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA) that results in the buildup of glycogen in muscle cells. Pompe disease occurs in men and women with equal frequency.
The disease is classified in two groups, late-onset (LOPD) or infantile-onset (IOPD). Patients with LOPD typically present symptoms any time from the first year of life to late adulthood and rarely manifest cardiac problems. The hallmark symptom of LOPD is skeletal muscle weakness, which often leads to walking disability and reduced respiratory function. Patients often require wheelchairs to assist with mobility and may require mechanical ventilation to help with breathing.
Symptoms of IOPD typically begin within a few months of birth and can often impact the heart in addition to skeletal muscle weakness. Other symptoms include difficulties breathing, frequent chest infections, problems feeding that result in failure to gain weight as expected, and failure to meet certain developmental milestones.
Pompe Disease was named after the Dutch doctor who discovered it, Joannes Cassianus Pompe. It is part of a family of diseases called lysosomal storage disorders.