Born unlucky: Challenges people with rare diseases face just to stay alive

Born unlucky: Challenges people with rare diseases face just to stay alive

An estimated 3,700 people suffer from rare diseases that cost lakhs to treat.

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Brothers Dharmender (23) and Vishal (6) suffer from MPS I, a genetic Lysosomal Storage Disorder, which can cause coarse facial features, inflammation of joints and neurological problems. (Express Photo by Tashi Tobgyal)

“Of all forms of inequality, injustice in health care is the most shocking and inhumane.” Martin Luther King Jr’s famous saying found a mention in the introductory observations of Justice Manmohan of the Delhi High Court, while deciding on a writ petition on April, 17, 2014. The “inequality, injustice” that Justice Manmohan was referring to was the plight of a 7-year-old boy suffering from a little-known and very rare genetic disorder called Gaucher’s disease (GD). This usually occurs in children, with the incidence of about 1 in 5,000 births. A delay in diagnosis or lack of treatment leaves the patient at risk of irreversible damage, which eventually leads to loss of body function and a painful death.

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“I want to serve the Army, sir. Please help me so I can fulfill my dream. I want to be alive to live my dream,” the boy, Ahmed, told the judge before the verdict. For Ahmed, that day’s court proceedings were a matter of life and death. And for his father, Mohammed Sirajuddin, who teaches in a local madrasa and earns less than Rs 10,000 per month, the repeat of a familiar tragic story — he had already lost three children to GD. Ahmed was born to Sirajuddin and Anwari Begum on December 29, 2007. “When he was born, I held his hands and feet. They felt warm, just like the three children I lost. This was my way of checking whether he is normal. I knew god was testing us again,” said Sirajuddin.

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Seven-year-old Ahmed suffers from a little-known and very rare genetic disorder called Gaucher’s disease. (Express Photo by Tashi Tobgyal)

In 2000, Sirajuddin had approached five Delhi hospitals after his 4-year-old son Anwar’s abdomen swelled due to an enlarged liver and spleen. But doctors could not figure out why, and Anwar, his first son, died within a week at a government hospital. “No one knew what was wrong, the doctors didn’t tell us a thing,” said Sirajuddin. In 2002, the tragedy repeated itself when their three-month-old daughter Gulnaaz died under similar circumstances. In 2005, the couple lost their third child, Asif. But this time, the doctor from a top central government hospital had some advice for them: “Either you stop having children, or marry someone else.” The disease is caused by recessive mutation of GBA gene in the child; and since the gene is recessive, both parents must be carriers for a child to be affected. “When Ahmed was born, and I noticed his hands and feet were warm, I made up my mind that I won’t lose another child. As soon I saw his enlarged stomach, I rushed him for treatment to Kalawati Saran Children’s Hospital,” Sirajuddin said.

“There, I met a Christian missionary, who offered help as long as the child was under their custody. I was not ready to give my child to them, but I asked where they would treat Ahmed. They told me they would take him to AIIMS,” Sirajuddin said. He decided to knock on the door of the capital’s premier hospital himself. There, he was told that Ahmed was suffering from GD, and was required to undergo Enzyme Replacement Therapy (ERT) to stay alive.


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GD, a Lysosomal Storage Disorder, occurs due to deficiency of an enzyme that helps in breakdown of metabolites in the cell. The disease affects vital organs, and symptoms include developmental delay, seizures, dementia, blindness, enlarged liver and spleen, pulmonary and cardiac problems and bones that grow abnormally. The disease is named after the French physician Philippe Gaucher, who originally described it in 1882. In Delhi, approximately 36 people have been diagnosed with Lysosomal Storage Disorder, majority of whom suffer from GD.

A setback, and some hope

Once Ahmed was diagnosed with GD, the family received another shock. The treatment would cost about Rs 40 lakh. But they saw a ray of hope when advocate Ashok Aggarwal, who takes up cases for economically weaker sections, decided to approach the Delhi HC seeking financial assistance for Ahmed. “Honestly, at first, I decided not to take up this matter because I had never heard of GD and the case looked so complex. I called a medical superintendent of a private hospital and he told me he had never heard of GD. But later, when he called back and told me there was a treatment available in India, I decided to take up the matter,” said Aggarwal.

During pendency of the trial, some High Court lawyers offered help, donating more than Rs 7 lakh for treatment. On January 29, 2014, Medanta offered free treatment for a month. US-based pharmaceutical company Shire has also come forward to provide an orphan drug for ERT. Orphan drugs are meant to treat life threatening disorders that are rare. These drugs are “orphan” because pharmaceutical companies have little interest in developing and marketing products intended for only a small number of patients.

On April 17, 2014, the court passed an order in favour of the child, asking the Delhi government “to discharge its constitutional obligation” and provide treatment at AIIMS free of charge. “Just because someone is poor, the state cannot allow him to die. The government is bound to ensure that poor and vulnerable sections of society have access to treatment for rare and chronic diseases, like Gaucher, especially when the prognosis is good and there is a likelihood of the patient leading a normal life. Health is not a luxury and should not be in the sole possession of a privileged few,” the court observed.

Waiting for change

More importantly, the court ordered the government to develop a policy to tackle rare diseases and promote development of orphan drugs. But more than two years later, little has changed. At least a dozen patients, alleging inaction by the central and state governments, have approached courts and sought their intervention to provide treatment. Among them are two brothers from the Mangolpuri slums, Dharmender (23) and Vishal (6), who suffer from MPS I, a genetic Lysosomal Storage Disorder, which can cause coarse facial features, inflammation of joints and neurological problems. For the last two years, the family has been fighting a legal battle against the Employees’ State Insurance Corporation (ESIC), which provides health insurance cover to factory workers and their dependents.

The central government organisation, in 2011, refused to provide money for treatment on the grounds that the insurance cover only extends to Rs 10 lakh. But the Delhi HC asked ESIC to pay for the treatment, which costs around Rs 22 lakh for each brother. At present, there are 11 such cases where the Delhi HC has provided interim relief to rare disorder patients, directing ESIC to provide insurance cover. “My father works in a construction company and earns less than Rs 15,000. We cannot afford treatment, where does a poor man go? We don’t even have money to take the Metro to AIIMS; instead we take three buses from Mangolpuri. Our only hope is that HC decides in our favour,” said Dharmender.

The delay in treatment has made Dharmender ineligible for jobs. His eyesight deteriorated and he is now partially blind. “I have passed Class XII. I gave three interviews but they rejected me because of my disability. There is no policy where I can get reservation because of my genetic disorder; authorities tell me partial blindness does not fall under reservation,” said Dharmender.

Need of the hour

It was to look into such issues that the HC directed the government to frame a policy on rare diseases. The Delhi government in January this year formed an expert committee headed by Dr Deepak Tempe, director of Maulana Azad Medical College. Sources said the committee has given the Delhi government the exact number of children suffering from rare diseases in the capital, and a list of those on who could benefit from treatment. But the government is yet to act on the recommendations. “Last month, I met Health Minister Satyendar Jain about providing treatment for the poor. He said the government cannot afford the cost of entire treatment on its own. Now our only hope is that the Centre comes up with a national policy on rare diseases,” said Manjit Singh, president of the Lysosomal Storage Disorders Support Society.

The Centre, meanwhile, has formed a sub-committee under Dr I C Verma, Director, Institute of Medical Genetics Genomics, Sir Ganga Ram Hospital. The sub-committee has submitted its recommendation to the Centre. On 5 December this year, a meeting was held by the Centre’s additional health secretary, where it was decided that a “national policy for treatment of rare diseases” will be completed within “six to eight months”. Till then, Ahmed, and a few others like him, can do nothing but wait.

Tough to counter

There is no universally accepted definition of rare diseases. The WHO says a disease is rare when one in 10,000 people is affected by it

— In Delhi-NCR, 36 people officially have Lysosomal Storage Disorder, the most common rare disease

— In Delhi-NCR, 6 children are receiving treatment through funding from international drug manufacturers.

— ESIC is funding 11 people following HC intervention, while one child is being funded by the Armed forces

— Globally, 80 per cent of rare diseases are genetic and 75 per cent are manifested early in life, from 0-5 years

— Cost of treatment is high because demand for medicines is low, and companies have to charge higher prices to recover cost

— FDA has approved effective therapy for 78 rare disorders, which means treatment is covered under insurance in the US

— In India, therapy is available for only 7 rare diseases. Insurance companies don’t cover rare diseases


— Orphan drugs for ERT are imported from three global manufacturers — Sanofi, Shire and Pfizer — and no Indian drug company has developed a competing drug