Support Group Meeting Challenges for Rare Diseases

Pompe disease is so rare that few doctors in the world knew about it. What is even fewer are the treatment options available considering this genetic disorder is not at the top of the agenda of many drug research companies.

This was the situation that Juan Magdaraog had to deal when he was about 10 years old and started showing signs of muscle weakness that eventually prevented him from walking or sitting up.

It took his family five years to know his sickness. After seeing a muscular dystrophy specialist in San Francisco, United States, that Juan’s condition was accurately identified.

Cynthia Magdaraog, Juan’s mother, said “We can’t blame the doctors. The many signs and symptoms are not unique to Pompe disease. These are weakness of hip muscles that leads to difficulty of moving the legs; weakness of spinal muscles that leads to excessive curving of the back; impairment of respiratory muscles that leads to respiratory insufficiency; sleep-disordered breathing; and eventual need for mechanical ventilation (to move air in and out of the lungs).”

Pompe disease could only be identified after taking a blood test of the creatine kinase (a protein found mainly in the heart, brain and skeletal muscle) and a muscle biopsy (in which muscle tissue is examined for excessive glycogen storage and degeneration).

Another huge hurdle

Despite knowing what ails Juan, the Magdaraog family had to face another huge hurdle. “Pompe disease generally progresses very rapidly among babies and is almost always fatal by the age of one, usually from heart and/or breathing failure whereas a Pompe disease that developed later in life, like what Juan had, is not as fatal as symptoms could be managed if addressed promptly,” said Cynthia, who is happy to report that Juan is doing well at 36.

Indeed, one would consider Juan fortunate as he has the full support of his family. In fact, he was able to keep his condition at bay, enabling him to finish college—he is an Industrial Design graduate from the De La Salle-College of Saint Benilde—and work.

Juan has been confined in a purposely-built wheelchair and has been breathing through a Bilevel Positive Airway Pressure machine (that helps him breathe more easily). He has always been a patient-advocate of the Philippine Society for Orphan Disorders, a nonprofit organization that aims to help individuals in the Philippines who suffer from rare disorders.

Read more here.