GEORGE JACOB THOMAS’ STORY

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 BiPAP support 8 hours a day when he sleeps since then.

He cannot walk without support. He is on ERT of Myozyme, 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.

More Stories

Haley’s Story

Haley’s Story

November 2021 My name is Haley Hayes. I am from Virginia. I am 16 years old and was diagnosed with infantile-onset Pompe Disease at 6 months old.  I...

Caitlin’s Story

Caitlin’s Story

August 2021 My name is Caitlin Naldoza. I am 17 years old and was diagnosed with late onset Pompe Disease at 5 years old. I will be sharing my...

JOHN’S STORY

JOHN’S STORY

A year ago today [April 29, 2004] our son, John, passed away from Pompe Disease.  He was four years old.  Most of you will not recognize his name,...

PATTY’s Story

PATTY’s Story

A Mothers Anguish April 6, 2002, was the saddest day of my life. Senselessly, while in the care of an inept medical system, my wonderful daughter...

STACY’s Story

This is the story of me from before I was diagnosed with Pompe’s disease.  I hope this helps to enlighten the medical community as well as other Pompe patients. Back in 1965 my Mom was told that I would be born on December 2nd.  This date came and went and the...

LUCAS’ Story

Our son Luke, the youngest of four children, was diagnosed with Pompe’s Disease at 5 months of age. He had a very normal birth and development but was a floppy baby. Luke was first hospitalized at 6 months of age with RSV virus and pneumonia after which he was...

TRAE’s Story

I was diagnosed in 1991 at age 22 with AMD. I also have a sister who is severely affected by the disease. She was diagnosed 13 years ago at age 20. In college, I began to notice that it was getting difficult to walk upstairs. I would get very winded, and my muscles...