She felt it difficult to breath and was put on ventilator
in a specialized hospital where she was diagnosed with Pompe disease, a
genetically inherited disorder that results in the progressive deterioration of
muscle function, and she died 10 days later on August 6, aged 10.
Now her little brother Govind, 6, is also facing the same
fate though symptoms like muscle weakening are not palpable. Doctors say only a
prohibitively expensive treatment to replace enzymes could prolong his life.
But the middle class couple is clueless as it would cost
them somewhere around Rs 100,000 a month to treat their son with the medicine
imported from the West. "They say it's a genetic disorder. So we cannot
think of another child either," said Manoj, tears rolling out of his eyes.
The couple is now part of a society called Lysosomal
Storage Disorders Support Society (LSDSS) formed in February by the patients,
families and caregivers and they have approached the federal and state
governments to set up centers to help the LSD patients.
Dr. Shankar, one of a few doctors in India who holds a DM
in genetics, said one out of 200,000 to 300,000 children in India now suffer
from juvenile Pompe disease and they continue to die young without getting proper
treatment and support. Even the doctors are not aware of the disease.
"The treatment is available since 2006 but it's too
costly and not easily available. They need to depend on the international
support groups. But the patient will finally succumb to death," said Dr.
Shankar, who works at the SAT Hospital attached to the Government Medical
College here.
On an average, two to three children with the disease are
reporting at the SAT hospital every year. They come with enlarged heart with
respiratory problems and most of the patients die in eight to 12 months.
The diagnosis of LSDs like any other rare disorder is the
first and most critical and frustrating challenge for any one with a rare
disorder since one cannot treat what one does not know.
"The symptoms begin to show at the age of three to
four and the progression is gradual. Only thing that we could do at this point
of time is to help prolong the life of these children with proper
support," said Dr Shankar who is among a very few doctors in India trained
to treat these patients.
Pompe disease is an autosomal recessive disorder, which
means that both unaffected parents are carriers and there is a 25 percent risk
of having an affected offspring. Pompe disease is caused by mutations in a gene
that encodes an enzyme called acid alpha-glucosidase required for breaking down
stored sugars in the body.
Muscle wasting is progressive with the patients
eventually losing their ability, or failing to develop ability, to walk, or
perform activities that require sustained motion. The muscles most often
affected are those used for breathing and mobility.
As heart and respiratory muscles quickly weaken, babies
affected with Pompe disease usually die within the first year of life. The
juvenile form of the disease has a slower progression, with a fatal outcome
usually occurring between 20-30 years old.
The LSDSS (www.lsdssi.org) tracks worldwide research into
the causes, treatment and management of these diseases and arrange, coordinate
and try to increase the help and facilities available for diagnosis,
consultation and treatment of those suffering from these diseases.
It campaigns for early diagnosis and effective,
affordable and safe therapies for LSD diseases like Gaucher, MPS, Fabry and
Pompe in India. It also strive to provide information and support to all
patients, their families and others with interests in the related diseases.
"My son, now 14, has been suffering from the disease
for five years now. It took us three years to get the medicine for him. We were
able to send blood samples and get medicine from the US. Everyone may not be
able to do that," said Ann Thomas, state coordinator of the LSDSS.
