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.

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1 thought on “Support Group Meeting Challenges for Rare Diseases”

  1. Tina says:

    This treatment of being labeled needs to STOP NOW!!!!!! I’m 39, bedridden, 38 medical conditions, 2 untreated infectious diseases, an unknown genetic and immune condition and now a systemic fungal infection causing severe symptoms that is caused by a neglegent doctor who failed to treat and diagnose with the correct anti fungal for oral thrush in August! Due to my complexity, she has abandoned me, mental abuse, discrimination,slander, and now this infection that will cause organ failure with out IV treatment. I guess due to being complex and many rare conditions, I do not deserve medical care. A fever ongoing since August, inguinal lymphadonapathy, severe bilateral kidney pain, severe skin symptoms, spitting blood,vision loss, confusion, mentally unstable,hopeless ,scared, nightmares,and worsening daily with many other visible symptoms and no accsess to medical care. I’ve begged and cried for help to have no one listen or care. Nothing in my power anymore. This dr has ruined me as a person and feel like a useless person who no one cares less about., Hoping for my organs to shut down feels my only way out of suffering and being labeled as a person I am not. My states congressman can’t even help me! It’s that bad that he is involved as well as a mailpractice attorney . I won’t be here to file a suit if this infection is not treated. I don’t want to live. I don’t want want to see anymore doctors to mistreat me. I want my health back! I want to be here to be an advocate for other patients and make my daughters dreams come true. I would never harm myself but to feel like this by the neglegent doctors and what that doctor did is not ok! No patient should ever be mentally abused or blocked from medical care due to ANY conditions!!! When this dr told me not to call her office, advice line and blocked my app on my phone to communicate with my drs, I had to try making money on my own for medical care. That led to identity theft, fraud, inappropriate texts from men I don’t know and being investigated for money laundering!!!! I never made a dollar! This woman has ruined myself, my health and my life! There’s a link on the Huffington Post called the DSM5. Patients are dying from this label of somatic disorders when REAL medical conditions are being labeled as psychiatric! This is what will cost me my life!

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