George Jacob Thomas, age 14, is suffering from GSD Type 2, Pompe. We reside at Trivandrum, Kerala State, India. Symptoms of Pompe were evident in George’s case when he was 7 years old and his condition progressed over the years.
Diagnosis took quite a few years since adequate facilities were not available in India. He had an episode of Respiratory Failure Type II in Dec 2009 and has been on BiPAPA breathing support machine that helps with inhaling and exhaling, often used during sleep. More support 8 hours a day when he sleeps since then.
He cannot walk without support. He is on ERT of MyozymeA form of enzyme replacement therapy used to treat Pompe disease by providing a lab-made version of ... More, obtained through the Indian Charitable Access Program of Genzyme Corporation since Dec 2009 after that episode.
The Government has still not sanctioned the reimbursement through my employers.
In addition to his ERT, he undergoes physiotherapy thrice a week. He attends school and is in the 9th grade.
