The Story Of George, Aged 15 Years
George Jacob Thomas, aged 15 had been diagnosed in 2007 to be suffering from Pompeâ€™s. During 2004, when George was 8 years old, the parents noticed that George was slow in his physical activities especially climbing stairs. He could run with difficulty. He used to get up from the floor on his own but with lot of difficulty by bending one knee and then pushing that knee and raising himself up.
The results of a few tests viz, CPK, EMG etc indicated muscle disorder. Further tests including muscle biopsies thereafter over a period of time at various hospitals,viz, AIIMS New Delhi, NIMHANS Bangalore, SCTIMST Thiruvananthapuram and CMC Vellore confirmedLSD also known as Glycogen Storage Disorder.
Since the parents could not get a confirmed diagnosis of the type of LSD done in India, enzyme assay using cultured skin fibroblasts and dried blood spot was carried out through Dukes University, USA. The results confirmed Pompe Disease after almost three years since it was first noticed.
Due to limited information of diagnosis and treatment of Pompe cases in India, the parents turned to the internet to research on the subject and found out about the ongoing trials of Myozyme which could be administered as enzyme replacement therapy (ERT) through infusion of the deficient enzyme. ERT has to be done through infusion every fortnight lifelong. Later, the neuro physician in their hometown during a seminar in the USA chanced upon Dr. PriyaKishnani of Dukes University and got to know of the breakthrough in ERT and of the approval of Myozyme by FDA. The parents were informed and then commenced the efforts to get Myozyme for George.
However, the going was difficult, firstly, due to the unaffordable pricing and secondly, the limited availability of the drug. The dosage for each infusion is @ 20 gms/ kg of body weight. Each vial of Myozyme contains 50 gms of the enzyme. Therefore a child with 20 kgs of body weight will require 8 vials of Myozyme. Each vial would cost US $ 690 approx,ie a requirement of Rs 2.5 lakhs everyfortnight, which is absolutely unaffordable for any common man. Therefore, the parents turned to everyone possible for help but in vain.
Over a period of time, the disorder progressed. George wasnot confident of walking without help. The parents had to carry him up steps and stairs. However he could turn etc on the bed on his own. If George squatted on the floor he could not raise himself up now. He had to take the support of any other object or person close by or else he had to be lifted up. He found it difficult to exert often ran short of breath. He continued to attend school. He underwent limb and respiratory therapy regularly. His diet was adjusted to a protein rich one.
In the meantime, in Dec 2009, George suffered Severe Respiratory Failure Type II, a complication due to Pompe Disease and was hospitalized for a month. He had to be put on a ventilator round the clock. The neuro physician attending to George immediately approached Genzyme India to consider provision of Myozyme on compassionate grounds which was approved by the India Medical Advisory Board of Genzyme India. The medicine was to be made available through Indian Charitable Access Programme (InCAP) coordinated by Foetal Care and Research Centre at Chennai.
With the ERT, George’s condition improved. He was advised to be on Non Invasive Ventilator (BiPAP) when sleeping and undergo limb and respiratory physiotherapy. After prolonged efforts, the parents have finally succeeded in getting the medicine provisioned and reimbursed by the employer of George’s father.
George continues to lead a normal life. However he is wheelchair bound and cannot take part in any physical activity that children of his age can take part in. He gets ERT once a fortnight. He is cautious against any sort of infection which children like him who have weak lung muscles are susceptible to. He remains away from crowded areas and friends who fallen ill to avoid infections.