From a seven-year-old in Srinagar to a 16-year-old in Delhi suffering from “rare diseases”, a recent Delhi High Court verdict on ensuring uninterrupted treatment for patients like them came as a ray of hope.
Since their diagnosis, patients of rare diseases — defined by WHO as a debilitating, lifelong condition that affects 1 or fewer people in 1,000 — and their kin faced challenges in accessing life-saving medication, whose cost runs into lakhs, and issues with its supply. A total of 104 petitions were finally moved in court, with over 100 patients seeking relief.
On October 4, the Delhi High Court directed that the Centre establish a National Fund for Rare Diseases and allocate Rs 974 crore for 2024-25 and 2025-26. This was to be approved and transferred in 30 days. It also said “treatment for all eligible… patients, as per an AIIMS report dated July 21, who are before the court in these batches of petitions shall commence in 45 days as per the NRDC (National Rare Diseases Committee) recommendations.”
The court directed NRDC to hold its first meeting in the week beginning October 21, where directions were to be issued about ensuring procurement of rare disease drugs at reasonable prices, etc. It said “on the said date, cases of all petitioners shall be placed before the NRDC for approval and commencement of treatment”.
However, a committee member, speaking on condition of anonymity, said the meeting has not been held yet with no notification issued for it.
When contacted, Dr Madhulika Kabra, Professor, Division of Genetics, Department of Pediatrics at AIIMS New Delhi, who is part of the NRDC, said she would be unable to comment as she is on the panel.
A month on, The Indian Express speaks to four families stuck in limbo as they wait for treatment to resume.
‘Only hope I have is for the trial to be completed’: Father of 16-year-old, diagnosed with Duchenne Muscular Dystrophy in 2018
When the boy turned 10, his father noticed subtle changes in how he walked — he would flail or fall over midway, and climbing a short flight of stairs became a task. The father then took him to AIIMS.
In 2018, the boy was diagnosed with Duchenne Muscular Dystrophy (DMD), a rare disease that causes muscle weakness and degeneration. “At the time, doctors at AIIMS Delhi said there was no cure, no medicines were available, and it could only be managed through physiotherapy, supplements, and steroids. We also went to Sir Ganga Ram Hospital, where we were told the same thing,” says the father, 39, a resident of Delhi’s Patel Nagar.
The boy went to school till Class IV before his ailment started taking over his life. Now wheel-chair bound, he cannot even lift a glass of water by himself, says his father. “Till Class IV, his school principal had made arrangements for him to attend classes on the ground floor but gradually, it became difficult…”
Steroids prescribed for his treatment had side effects, making him gain weight and affecting his growth. His father rues that the drug that can help manage his son’s muscle degradation is still under trial internationally.
In 2023, the boy moved the Delhi HC — through his father — “in the hope that the court shall direct faster trials” which, in turn, can help him win the race against time, says the father. In a 2021 study, a systematic review of mortality in DMD patients pegged it at 22 years.
The father, however, says the recent HC verdict does not make much of a difference to his boy. “The drug that can help him is under trial internationally and there has been no direction in that regard. I’ve been making rounds of AIIMS since 2018 but each time, I’ve been told it is not in their hands.”
The sole earner in the family — he works with a courier service company in Patel Nagar — his son’s diagnosis has meant adjustments, shouldering mounting expenses, and knocking on every door possible. “AIIMS had recommended a physiotherapy clinic, but it charged Rs 150 an hour per day. I did not have the means to pay that much. So I asked them to teach me instead so I could do my son’s physiotherapy at home. I now do it twice a day.”
He resorted to alternative medicine as well. “I took him to an Ayurveda clinic in Rajinder Nagar where I was spending Rs 3,000 a month for a year, but his condition did not improve. I also went to an ashram in Haridwar for Ayurvedic treatment; that too did not help. I got defrauded as well… someone promised me an ayurvedic oil that would cure him if massaged all over his body, in exchange for Rs 50,000. In my desperation, I paid up — it did nothing,” he says.
“At this point, the only hope I have is for the trial to be completed at the earliest so my son can access the medicine like other DMD patients,” says the father, who also has a 10-year-old daughter.
Dr Ratna Puri, senior consultant for genetics at Sir Ganga Ram Hospital, says indigenous drug development for treating rare diseases is underway in India. “Development recently started… after the National Policy for Treatment of Rare Diseases, 2017, our funding agencies have been encouraging researchers and companies towards development of indigenous therapies,” she says.
It’s been three months since her last dose, says grandfather
“Bimaar hu, dard ho raha hai (I’m sick, it’s aching),” says the child, when asked what she is doing over a telephone call on a Thursday evening.
At the age of four months, she was diagnosed with Gaucher’s disease, a rare genetically inherited lysosomal disorder where fat buildup, especially in the liver and spleen, can lead to anaemia and musculoskeletal disorders. She has been prescribed the Enzyme, Cerezyme Imiglucerase, every fortnight. The cost of the drug? It can go up to Rs 57.55 lakh a year.
The amount has been covered by the government’s fund so far, but it’s been three months since she took her last dose. “She received her first injection in December 2022 and there was significant improvement. She started going to school as well,” says her 60-year-old grandfather.
Three months ago, AIIMS told them it does not have the drug anymore, he said. The girl has now missed around 18 doses, says her family. A few weeks ago, her condition took a turn for the worse. “She has been throwing up and fainting. She has almost stopped eating, she says she does not have an appetite. She is severely weak and anaemic so going to school is not an option anymore,” says her grandfather. “We don’t know what to do…,” he adds.
Her father is the only earning member; he used to drive an auto but has now switched to a sales job in a pharma firm in Srinagar. She has an eight-year-old brother. Even for her first injection, it took nearly four months for the family to get the medicine after AIIMS requested funds from the Ministry of Health and Family Welfare.
“Our finances are drained… we’ve been making the rounds of AIIMS Delhi from Srinagar since 2017… we have to bear the costs of travelling and staying in Delhi every time we go for her treatment. Till last year, she was receiving five doses a month. This year, it was upped to six doses a month,” says the grandfather.
It was in 2022 that the child, through her father, moved the HC seeking access to treatment and drugs after waiting for five years. “We would meet other patients of Gaucher’s disease at the AIIMS clinic and they were getting the drugs at the time. They told us there are a bunch of people who have moved the HC seeking access to the drug, which is when we came in touch with advocate Ashok Agarwal.”
Agarwal has represented a large chunk of the patient-petitioners of rare diseases seeking relief before the Delhi HC. The injection for the child started after court orders. “It is thanks to the HC’s orders earlier that we got access to the drugs and it was for free. With the latest judgment, we thought it would help us. It’s been a month, but there is no headway,” the grandfather laments.
‘She lost her hearing when treatment was stopped earlier’: Father of six-year-old girl, diagnosed with Gaucher’s disease in 2018
Within days of her birth, the child was diagnosed with the disease. In 2020, following the HC’s order, she got access to the drugs. She is undergoing enzyme replacement therapy at AIIMS Delhi and the drug, Cerezyme, costs Rs 1.1 lakh per vial. She has been prescribed four vials a month.
But her father, an Okhla resident, says since the start, there has been an interruption every two to three months because of the drug’s non-availability. This time, treatment stopped in August and is yet to resume.
“I went to AIIMS earlier this week to check on the status of the drugs and was told the government has not released funds yet. There is a marked deterioration if she remains without therapy for five-six months… her spleen and liver get affected, leaving her prone to infections,” he says.
“Then we had to move court to resume her medication. The only demand we have from the government is to not stop or interrupt her therapy, she already lost her hearing when it was stopped earlier… now she has to undergo a cochlear implant surgery which will cost Rs 4-4.5 lakh. I can’t afford that money and I don’t know how to arrange for it,” cries the 43-year-old.
He has already lost four children to suspected inherited rare diseases — a son, diagnosed with Mucopolysaccharidosis-1 (MPS I), died at the age of eight. A daughter and two sons succumbed to Gaucher’s at the age of 14, 16 and 18 months.
“For my fourth child… we were told the drugs were available and he got the first dose. Before he could take the second one, he died. We wanted to file a case in court over the unavailability of the drug and came in contact with advocate Ashok Agarwal,” says the father.
The HC too recorded a stoppage in the six-year-old’s treatment in January 2023 after AIIMS exhausted the funds. Before that, the court issued orders on December 14, 2021, and February 1, 2022, directing the Centre to release funds for her treatment.
Explaining how intermittent or disrupted therapy can affect patients with rare diseases, Dr Puri, says, “It varies on the disease as well as the stage at which a patient was started on such therapy… For genetic disorders, if treatment starts early, it has a better impact on the patient. For DMD, if the muscles have already atrophied, giving the most expensive therapy is not likely to reverse muscle damage. Published data to this effect is still lacking. But if we start therapy early in the course of the disease, then it is beneficial; interrupting treatment for long periods will impact the benefit achieved due to the therapy.”
The impact of stopping therapy would ultimately vary on a case-to-case basis, assessed on multiple parameters, she adds. “For Gaucher’s disease, we follow parameters such as if the height and weight are improving, if the size of the liver and spleen is decreasing, we will look at bone health and neurological features, etc. Similarly, for DMD, we track it through… various muscle strength scales. It is very important to follow up on patients through such quantitative scales because all genetic disorders are multi-system disorders.”
The child, meanwhile, goes to a private school. “With her special needs, she cannot be taken care of in a government school,” the father reasons. He is the only earning member in the family, working as an Arabic language translator in hospitals. Work has been sparse post Covid, he says.
There is little dampening of the child’s spirits, says her family. “She is obsessed with fashion and make-up and is extremely chatty. From the time she wakes up, she asks us questions and talks our ears off. On most days, she’ll take my phone and start placing orders on retail websites. Half my job then becomes cancelling these orders,” her father laughs.
While the court order has filled him with hope, he remains anxious. “The direction is welcome. It has, however, been nearly 30 days now but the fund remains to be released.”
‘Up to govt… if they want to be humane, provide medicines’: Father of 19-year-old, diagnosed with Duchenne Muscular Dystrophy in 2011
It was on a family trip to Manali in 2010 when the teen, then aged five, could not climb stairs and would keep falling while walking. The family immediately returned home to Jaipur. After his symptoms were dismissed initially as signs of weakness, a DMD diagnosis was confirmed nearly a year later, officially, in 2011.
“We sought a second opinion… Every doctor at the time kept saying DMD patients do not survive past 15 years,” says his father, aged 43.
What followed were trips across the country and resorting to alternative therapies. In 2012, the teen went to the National Institute of Ayurveda in Jaipur after he was rendered wheelchair-bound.
In 2013, his father started writing to officials and ministers at the local, state, and national-level seeking government intervention in the management as well as treatment of such diseases.
In 2016, he took his son to Mayopathy Kappagam, a hospital for the treatment of Muscular Dystrophy, near Tirunelveli in Tamil Nadu. There, he claims, they discovered the benefit of kattu therapy — where pieces of cloth are tightly and strategically wrapped around body parts such as the knees, ankles, and spine to rectify posture. Father and son stayed in Tirunelveli for a year and have continued to visit every year.
The father, who was running a jewellery business, says he shut shop after a few years and dedicated himself entirely to his son: “He studied till Class VIII before we decided we wanted to prioritise keeping him alive over his education. Our PM completed his studies later, so can my son.”
The family’s finances were drained in commuting from Jaipur to AIIMS Delhi and other places for the teen’s treatment. Then in 2020, the US Food and Drug Administration approved a therapy by Sarepta Therapeutics, Amondys-45, giving hope to parents like him.
Soon after, he moved the HC in 2021 on behalf of his son in the hope that they could push Indian authorities to allow patients better access to the drug. It would take another year — in 2023 — for the teenager to get the first dose of Amondys-45, which costs Rs 30 lakh a month.
However, treatment has been interrupted following the drug’s unavailability. His last dose was on July 15. “In the absence of the drug dosage, movement slows down in DMD patients. It is now up to the government — whether they want us to keep making rounds of courts while denying access to treatment to patients running out of time or whether they want to be humane and provide them with necessary medicines,” says the father.