Here's how 70 million Indians are battling with rare diseases

As the Department of Health and Family Welfare pussyfoots on funding a rare disease policy, 70 million Indians grapple with lack of expert doctors, prohibitively expensive drugs and scant research

Nishka Hosangady has been asked by her mother to step away from studying for the ongoing HSC exams to chat with us. WhatsApp is the preferred medium of communication, and like others her age, the 20-year-old works it like a dream.

Remembering the time she was eight years old, she types, "At first, I didn't know what was happening to me coz my right hand was shaking and then gradually, my speech also started deteriorating and I just didn't know what to do coz I was very young at that time."

Nishka suffers from Benign Hereditary Chorea (BHC) - a movement disorder classified by low muscle tone, and jerky involuntary movements that affect especially the shoulders, hips and face. In her case, however, while she doesn't have involuntary movements, over time, her right hand got stiffer, making bending of the fingers to write, difficult.

If Khubchandani (ledt), as a student, didn't have access to a specialised programme where he could learn about rare disorders, today's doctors are making up for it, in an almost each-one-teach-one like effort. Khubchandani conducts web-based meetings every Wednesday from 7.30 pm to 9 pm with practicing paediatricians or post-grads from across the country who share insights and learn from each others’ case studies. They even have guest faculty, people Khubchandani has made friends with over the years, who drop in with their expertise. Pic/Atul Kamble

At the time, her mother Rashmi pulled her out of Bombay International school after she faced bullying by classmates - "she was different and had the function of only three fingers of her right hand to hold a pencil" - and the fact that she was unable to cope with her studies. By the time she was 12, the symptoms had stopped progressing. But, they had taken a toll. Nishka can no longer speak, and one day, Rashmi says, "her right hand just turned".

Enrolling Nishka into a special school didn't help. While she may have shown symptoms of cerebral palsy, her cognitive function wasn't affected. Doctors, says Rashmi, 55, who runs a real estate advisory firm, "were all closed. Those were the worst days. Doctors don't like to say they don't know. We even went to Philadelphia where we were working on a home therapy and school programme. We did a series of blood tests there, but nothing came up. We thought it was something in the brain."

Closure came only four years ago. Eight years after the symptoms started manifesting and four years after they plateaued. A doctor they had consulted suggested that Nishka's blood sample be sent to the Medgenome laboratory in Bengaluru, which had then recently opened with a dystonia panel. Three months later, the diagnosis arrived. But closure only meant that the family finally knew what went wrong. There was still no real treatment. Nishka has been through drug trials, says Rashmi, but they were for Parkinsons' and weren't helping her.

Nigar Sulatana, 35, has been admitted to Bengaluru's Vikram Hospital with Gullain Barre Syndrome. Her sister has now turned to Milaap.org to raise funds for the treatment which is costing the family Rs 20 lakh

Battling the darkness
In a 2014 paper titled, Organization for Rare Diseases India (ORDI) that addresses the challenges and opportunities for the Indian rare diseases' community, the writers including HK Rajasimha state that world over, the definition of what constitutes as a rare disorder changes. For example, in America, it is "any disease or condition that affects less than 200,000 persons". In Japan, the number is 50,000 persons. The World Health Organization (WHO) suggests that a rare disease be defined as one with a frequency of less than 6.5–10 per 10,000 persons. India, however, still has no standard definition. The paper proposed it be 1 in 5,000. The paper states, "Although this definition may suggest that the number of affected patients is small, it is important to note that when taken together, the number of patients living with a rare disease in India is over 70 million."

Dr Katta Mohan Girisha, who heads the Department of Medical Genetics at Kasturba Medical College, Manipal, points out that these diseases are also called orphan diseases, in that they find no takers. "It doesn't attract pharmaceutical companies [when it comes to research and manufacturing medicines], because how many will buy the medicines? There are no researchers either [to research diagnostic and treatment tools] as finding a second or even a third patient is a challenge. The area is plagued with lack of expertise."

Prasanna Shirol's daughter Nidhi (seen along with Shirol and mother Sharada) is India's first Pompe diagnosis. Shirol, who now runs ORDI says he counts her as a success story because though she lived on a ventilator and wheelchair — she is currently in a semi-coma — she went to school, college and was never confined to the house. Pic/Ajeesh F Rawther

Literature, one case at a time
Dr Raju Khubchandani made the shift to paediatric rheumatology, in the late '90s, when he was 44. He recognised that he needed to expand his area of expertise after he had seen three children with rheumatological conditions in a span of three months. "In 2000, I took a three month break from my general paediatric practice and travelled to the UK where I trained at the Great Ormond Street Hospital for Sick Children in London," he says. The course he adds, was a self-created fellowship. "I reached out to the head of department of paediatric rheumatology at the hospital and asked if I could observe their working, and raised my own funds. I returned to India on July 15, 2000, and a day later, a friend referred a young girl with a history of six months of fever with swollen joints." Today, of the 100 patients that he is referred to at his practice, 65 come with musculo skeletal complaints - weak muscles, swollen joints, deformity in bones, and above all, prolonged undiagnosed fevers. Of these, 25 per cent are diagnosed with rare disorders such as lupus, juvenile arthritis, scleroderma, dermatomyositis, etc. Of the 4,000 children he has seen with musculo skeletal complaints, those that fall in the rare disorder category are around 1,200.

But, diagnosing a case as rare is not an easy order. Khubchandani says much of the learning is done while attending conferences around the world and sitting in on sessions where whacky cases are discussed. "I focus on the images and clinical features." The recalling happens when he's sitting at the clinic with his team and jumps out of the chair saying, "Google DADA 2. This looks like a case I saw in Jerusalem." It doesn't click every time, but when it does, it means that a family like the Hosangadys have got closure. It's these moments of success, even if few, that drive doctors.

Press-shy Girisha, who admits that of the 15 rare diseases that he and his team have discovered in the last 10 years, only four have been sent out to the media. Speaking about a rare diagnosis, he says, a family came to him that had lost two children to an undiagnosed ailment with symptoms such as neurological deterioration and seizures among others. The DNA sample of one child who had passed away two years prior, was lying at a lab in Delhi. "We did exome sequencing on the DNA from the Delhi lab. In the meantime, we got another patient who presented similar symptoms and when we did their gene test, we realised that they both had defects in the ISCA1 gene," says Girisha.

Rashmi Hosangady, 55, Nishka's mother

When the first case presents itself and it doesn't match any known disease or genetic mutations, says Girisha, you are not confident that what you have at hand is a new disease. At the second instance you think "possibly". "We published a paper with consent from family. By the time it was approved and published, the lady was six weeks pregnant. Though we had a diagnosis - multiple mitochondrial dysfunction syndrome - we were still not confident that a pre-natal test could check if the to-be-born would have the disease or not. By this time, the lady was 12-13 weeks pregnant." Faced with a pray-or-trust-the-doctor option, the couple opted for the latter. A test showed that the child did not carry the same genetic abnormality. The baby was born normal. "They send us updated video on the new daughter. It is a satisfaction for us. No doctor knew what it is, and now the lives of several families who might be affected across the world could be helped. It makes us feel that we have done is worth our life. Of course, it doesn't happen every day."

The meaning of orphan
On a mid-week morning, sitting in the OPD room of Mahalaxmi's SRCC Hospital where Khubchandani sees his rheumatalogical patients, the 38-year-old father of a Lupus patient expresses the anguish of all those faced with a rare disorder. "The doctor [at Indore where his daughter, then 10 years old, was diagnosed] told me it's not a common disorder. 'Don't take it lightly, treatment and medicines will continue for life'. It was horrible because we didn't know how to face the situation. How was it possible to have a disease that medical science doesn't even know the cause of? For which there's no treatment."

Diagnosed within two months of presenting the symptoms, the young girl from Ratlam who didn't wish to be identified for the story - today has to take 11 pills a day to keep the symptoms at bay. While her parents didn't discuss the details of her condition, access to the Internet meant that she Googled the term and knew what she was suffering from. She knows for instance, what a butterfly rash is and that she needs to wear a sunscreen with SPF of above 30 before stepping out to play. UV rays can be harmful. If they were initially overwhelmed, time has made the family strong. "Now we are ready to face everything. We have to. If someone says it's curable in America, I will take her there," says the father. But there is no cure. At least for now.

If medication is allowing the young girl to live a normal life, go to school or play, she's still lucky. Many rare diseases have no drug therapies. As per the paper written by K Rajasimha and team, in 2014 only around 400 FDA approved "orphan drugs" were available in the US market, and 100 drugs approved by the European Medicines Agency (EMA) in the EU. Totally, they covered about 11 million patients suffering from rare diseases, leaving a majority with no treatment options.
Where drugs are available, they are prohibitively expensive.

Wadala-based Shital Bhatkar's son Arya was diagnosed with Neimann-Pick C when he was one-and-a-half years old. While there's no cure, says 41-year-old Bhatkar, a drug called miglustat (Zavesca) has been proven to improve neurological symptoms, allowing you to lead a normal life. But it comes at R5 lakh for 90 tablets.

The Bhatkars - Shital and her husband Vikrant, 44 - were dealing with Neimann-Pick at a time when even the medical community knew little about it. "We did all the research and connected to the Swiss company [manufacturing the drugs]. They wouldn't send medicines to an individual, only to a pharmaceutical firm or a doctor. We didn't even know what the right dosage was. When our son got diarrhoea on having the medicines, we contacted the firm, and they then told us that milk and sugar cannot be had with this medication. For the diagnosis, we had to send blood and skin samples to Netherlands. You can imagine that this is not something the poor can afford." The Bhatkars couldn't continue Arya's treatment for long. It was too expensive. And no insurance scheme covers diseases like Neimann.

Arya passed at the age of seven, four years ago. Since then, to help other parents and patients cope, the Bhatkars run an NGO called With Arya. Here, they counsel and help others with rare disorders. The other things they did was to run a test on their daughter Prachiti, who is five years older to Arya. "The test was expensive, but we needed to know. While she doesn't have the defective gene [and won't be afflicted with Neimann-Pick] we now know that she is a carrier [like us]." But, Bhatkar asks, "How many tests will you do? How will you know what genetic disease you are carrying?"

A network of angels
Speaking on the phone from Bangaluru, Raahat Sultana talks of her sister Nigar, 35, who has been diagnosed with Guillain-Barre Syndrome, a disorder in which the body's immune system attacks the nerves, quickly leading to paralysis. Nigar, who has been admitted to Vikram Hospital since December 2018, lives in Channapatna, a small town in Karnataka, where her husband runs a small farm. The hospital bills, says Raahat, have now crossed R20 lakh. Some of this they have raised from their own savings, gold loans and help from family. All of this needs to be paid back. To meet this, Raahat has now set up a fundraiser on Milaap.org, which will run till March 16.

Speaking about the platform's role in raising money for patients, its president and co-founder Anoj Viswanathan, says, on an average, Milaap receives nearly 1,100 appeals for medical and emergency needs in a month, many pertaining to rare diseases.

"We once had a father raise funds for his daughter's treatment. She had a rare genetic condition called Mucopolysaccharidosis Type 6, that could only be treated abroad. The estimated cost of the treatment was R1.94 crore, and he managed to raise nearly R1.4 crore," says Viswanathan.

Sometimes, it's the big pharma that steps in to help. For instance, Sanofi Genzyme has a India Charitable Access Program through which it provides free therapy to patients in India afflicted with Lysosomal Storage Disorders (LSDs) such as Gaucher, Pompe, Fabry and MPS I. "Currently, over 130 patients are receiving treatment under this programme started in 1999, even when Genzyme did not have a local presence. We also have a free of cost testing service, Disha, through which, over 3,000 patients, suspected of having LSDs, have been tested in the last five years," a spokesperson from Sanofi shares.

From father to advocate
Prasanna Shirol has the distinction of being the father of India's first Pompe diagnosis. Diagnosed in 2007, his daughter Nidhi has spent much of her life on ventilator. Their home in Malleswaram, says Shirol, was converted into a mini-ICU. They even moved from Hubli to Bengaluru to get better access to treatment.

Recognising the need for an umbrella organisation in India to address rare diseases, he started the Organisation of Rare Diseases India five years ago. Shirol, who was the AVP at Sony before turning to advocacy full time, says, "We have also set up a 24x7 helpline and want to set up a care coordination centre, where diseases are identified and treated. We wish to support rehab and end-of-life care. Some of this has been initiated." More importantly, he says, ORD hopes to cut down the distance an average patient travels for treatment from 650-700 km by 50 per cent.

But, advocacy groups such as ORD have a long battle ahead. India, after all, no longer has a rare disease policy. Put in place - in what experts call - in a rush, the National Rare Disease Policy allocated R100 crore funds towards battling genetic disorders. Under the policy, the Central government was to contribute 60 per cent towards treatment, while state governments would bear the remaining 40 per cent. However, the policy is currently in abeyance as the government in December 2018 did a U-turn, saying it would not be able to implement it because money was not allocated under the National Health Mission. The Delhi High Court in January this year, summoned the Union health secretary for an explanation after the government argued it was revising the policy as had been had been erroneously framed. Though public health is a state subject and concurrence of most of the states had not been obtained prior to the framing of the policy.

Shirol argues, "Some states have not agreed to the drafted policy. But, no state will agree overnight. This was true even in case of GST or the Ayushman scheme, but the Centre made an effort there."

The best possible life
Shirol, an Ashoka Fellow, says in the last 10 years he has known of at least a few thousand patients who have died. "It's a part of my life," he shrugs. But, Nidhi, he sees as a success story. Though she has been in a state of semi-coma for the last 16 months, Shirol says, up until then, she lived a full life. "She was on a wheelchair and ventilator. That's how she roamed. We went like that to the mall. She even went to college and studied BCom. One day, the ventilator broke down. But, before that, she was never confined to home. She performed well in Class XII and got 68 per cent. We gave her the best possible life."

Lupus
A disease in which the immune inappropriately attacks tissues in various parts of the body. This abnormal activity leads to tissue damage and illness. Symptoms include achy joints, unexplained fever of more than 100ºF, swollen joints, prolonged or extreme fatigue, skin rash, ankle swelling and fluid accumulation, pain in the chest when breathing deeply, a butterfly-shaped rash across the cheeks and nose, hair loss, pale or purple fingers or toes from cold or stress.

Pompe
It is a genetic metabolic disorder due to which the body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages muscles and organs.

Symptoms for infants include: Trouble eating and not gaining weight, poor head and neck control, rolling over and sitting up later than expected, breathing problems and lung infections and enlarged and thickening heart or heart defects. In adults (it's called late onset Pompe) symptoms are shortness of breath, a hard time exercising, and lung infections, trouble breathing while sleeping and a big curve in the spine.

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