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

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 20yearold works it like a dreamRemembering the time she was eight years old she types At first I didnt know what was happening to me coz my right hand was shaking and then gradually my speech also started deteriorating and I just didnt know what to do coz I was very young at that timeNishka 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 doesnt have involuntary movements over time her right hand got stiffer making bending of the fingers to write difficultIf Khubchandani ledt as a student didnt have access to a specialised programme where he could learn about rare disorders todays doctors are making up for it in an almost eachoneteachone like effort Khubchandani conducts webbased meetings every Wednesday from 730 pm to 9 pm with practicing paediatricians or postgrads from across the country who share insights and learn from each othersrsquo case studies They even have guest faculty people Khubchandani has made friends with over the years who drop in with their expertise PicAtul KambleAt 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 turnedEnrolling Nishka into a special school didnt help While she may have shown symptoms of cerebral palsy her cognitive function wasnt affected Doctors says Rashmi 55 who runs a real estate advisory firm were all closed Those were the worst days Doctors dont like to say they dont 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 brainClosure 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 Nishkas 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 werent helping herNigar Sulatana 35 has been admitted to Bengalurus Vikram Hospital with Gullain Barre Syndrome Her sister has now turned to Milaaporg to raise funds for the treatment which is costing the family Rs 20 lakhBattling the darknessIn 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 200000 persons In Japan the number is 50000 persons The World Health Organization WHO suggests that a rare disease be defined as one with a frequency of less than 65ndash10 per 10000 persons India however still has no standard definition The paper proposed it be 1 in 5000 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 millionDr 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 doesnt 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 expertisePrasanna Shirols daughter Nidhi seen along with Shirol and mother Sharada is Indias 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 mdash she is currently in a semicoma mdash she went to school college and was never confined to the house PicAjeesh F RawtherLiterature one case at a timeDr 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 selfcreated 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 4000 children he has seen with musculo skeletal complaints those that fall in the rare disorder category are around 1200But 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 hes 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 doesnt click every time but when it does it means that a family like the Hosangadys have got closure Its these moments of success even if few that drive doctorsPressshy 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 GirishaRashmi Hosangady 55 Nishkas motherWhen the first case presents itself and it doesnt 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 prenatal test could check if the tobeborn would have the disease or not By this time the lady was 1213 weeks pregnant Faced with a prayortrustthedoctor 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 doesnt happen every dayThe meaning of orphanOn a midweek morning sitting in the OPD room of Mahalaxmis SRCC Hospital where Khubchandani sees his rheumatalogical patients the 38yearold 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 its not a common disorder Dont take it lightly treatment and medicines will continue for life It was horrible because we didnt know how to face the situation How was it possible to have a disease that medical science doesnt even know the cause of For which theres no treatmentDiagnosed within two months of presenting the symptoms the young girl from Ratlam who didnt wish to be identified for the story today has to take 11 pills a day to keep the symptoms at bay While her parents didnt 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 its curable in America I will take her there says the father But there is no cure At least for nowIf medication is allowing the young girl to live a normal life go to school or play shes 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 optionsWhere drugs are available they are prohibitively expensiveWadalabased Shital Bhatkars son Arya was diagnosed with NeimannPick C when he was oneandahalf years old While theres no cure says 41yearold 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 tabletsThe Bhatkars Shital and her husband Vikrant 44 were dealing with NeimannPick 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 wouldnt send medicines to an individual only to a pharmaceutical firm or a doctor We didnt 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 couldnt continue Aryas treatment for long It was too expensive And no insurance scheme covers diseases like NeimannArya 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 doesnt have the defective gene and wont be afflicted with NeimannPick 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 carryingA network of angelsSpeaking on the phone from Bangaluru Raahat Sultana talks of her sister Nigar 35 who has been diagnosed with GuillainBarre Syndrome a disorder in which the bodys 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 Milaaporg which will run till March 16Speaking about the platforms role in raising money for patients its president and cofounder Anoj Viswanathan says on an average Milaap receives nearly 1100 appeals for medical and emergency needs in a month many pertaining to rare diseasesWe once had a father raise funds for his daughters treatment She had a rare genetic condition called Mucopolysaccharidosis Type 6 that could only be treated abroad The estimated cost of the treatment was R194 crore and he managed to raise nearly R14 crore says ViswanathanSometimes its 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 3000 patients suspected of having LSDs have been tested in the last five years a spokesperson from Sanofi sharesFrom father to advocatePrasanna Shirol has the distinction of being the father of Indias 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 miniICU They even moved from Hubli to Bengaluru to get better access to treatmentRecognising 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 endoflife 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 650700 km by 50 per centBut 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 Uturn 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 policyShirol 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 thereThe best possible lifeShirol an Ashoka Fellow says in the last 10 years he has known of at least a few thousand patients who have died Its a part of my life he shrugs But Nidhi he sees as a success story Though she has been in a state of semicoma for the last 16 months Shirol says up until then she lived a full life She was on a wheelchair and ventilator Thats 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 lifeLupusA 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 100ordmF swollen joints prolonged or extreme fatigue skin rash ankle swelling and fluid accumulation pain in the chest when breathing deeply a butterflyshaped rash across the cheeks and nose hair loss pale or purple fingers or toes from cold or stressPompeIt is a genetic metabolic disorder due to which the body cant make a protein that breaks down a complex sugar called glycogen for energy Too much sugar builds up and damages muscles and organsSymptoms 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 its 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 spineCatch up on all the latest Mumbai news crime news current affairs and also a complete guide on Mumbai from food to things to do and events across the city here Also download the new midday Android and iOS apps to get latest updates