Six-year-old Govind is battling a rare genetic disorder - Pompe disease
Like any six-year-old, Govind loves to go to school. He is unhappy that he had to miss two fun-filled days at school with friends this week, when he had to remain in the hospital, attached to drips and needles, which were infusing life-saving drugs into his system.
Govind suffers from a rare genetic disorder that perhaps 1 in 40,000 people (U.S statistics) are born with - Pompe disease - and requires Enzyme Replacement Therapy (ERT) twice a month to prolong his life. Ever since they diagnosed his condition last year, Govind's parents, Manoj and Beena, have been running from pillar to post to arrange for his treatment, which is not only expensive but is required lifelong.
Having lost their first-born daughter, Sarika, to the same genetic disorder last year, this couple is fighting a desperate battle to save their son. “It has been a tough battle, trying to find the money to just keep him alive. But we cannot give up; he's all that we have got now, our final hope,” Mr. Manoj said.
He had come with his family to a press event organised by the Lysosomal Storage Diseases Support Society (LSDSS) on Wednesday, to create awareness of Pompe and to lobby for support from the government.
Pompe disease belongs to a group of some 40 rare genetic disorders known as Lysosomal Storage Disorders. Pompe is a disease inherited the autosomal recessive manner, which means that the child inherits faulty genetic material from both parents who are unaffected carriers.
It is linked to the deficiency of the lysosomal enzyme, acid alpha-glucosidase, which is required by the body to break down glycogen, a stored form of sugar used for energy. In Pompe disease, because of genetic mutations, this essential enzyme is either reduced or totally absent in the body. Excessive amounts of glycogen accumulate everywhere in the body, leading to muscular dystrophy. The heart and skeletal muscles are the most seriously affected and often in cases of early onset, the child rarely survives over a year. ERT with Myozyme, developed by the Genzyme Corporation based in Massachusetts in the U.S is the only known solution for Pompe disease. With a single vial costing nearly U.S. $700, Govind requires about 12 vials or Rs. 3 lakh every month to be alive.
With the help of LSDSS, Mr. Manoj and Ms. Beena have been appealing for the goodwill and compassion of the government and corporates to help children like their son live. The Society, formed in New Delhi in February last year, has emerged as a national support group, creating more awareness among the public and medical fraternity about LSDs, the diagnostic facilities for which are not currently available in the State. Delayed diagnosis lessen the survival chances of these children.
Globally, treatment is available for only six of the LSDs. Pompe is one disease, where continuous ERT has been shown to have good prognosis. “The number of children with diseases such as Pompe are few – SAT Hospital sees about three cases in an year. It is devastating to parents that even though there is a lifeline, it is beyond their reach. Only some policy decision at the Centre or compassionate corporates can give some hope to these parents,” V. H. Shanker, Associate Professor and Geneticist at SAT Hospital, said.
In Pompe, owing to progressive muscle wasting, children die young, unless they undergo ERT. Respiratory infections leading to pneumonia, cardiac failure caused due to weakened heart muscles are the main problems.
In the past one year, through continuous efforts, the Society has been able to make itself heard at various fora and State governments. The Delhi government has promised to help and in Tamil Nadu, cine actor Karthi has become the cause ambassador for the Society. The Society has also been able to get the ICMR to set up a taskforce to study LSDs.
In the country, Kerala was the first government to offer some support to a Pompe patient. A special allocation of Rs. 3 lakh by the previous government sustained Govind for a month. The U.S- based Genzyme Corporation, under its India Compassionate Access Programme (INCAP), has been fully supporting the treatment of a few lucky children. For a few others like Govind, the goodwill of corporates or global charities remain the last hope.