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.