When will we be heard ?
When will we live a life with dignity?
How long will we remain invisible to the ableistworld?
When can we walk again?
WHEN WILL WE BE CURED ?
This is an outcry by every Muscular Dystrophy afflictand
parents of affected children. This wretched disease spares no kid,
no adult, no gender, no caste, no religion, no income, no ethnicity.
Very fewmuster courage to live with it but theytoofeel incapacitated and shattered when they can’t drink a glass of water on their own, let alone carrying out activities of daily living. Imagine the plightof parents who have to piggy-back their adolescent children to school, of parents whose 6-7 years old are wheelchair bound when they should be playing cricket or cycling away in playgrounds, of parents who helplessly see their teenage sons on ventilator support. Theirpain and agony is endless.Rare diseases place a huge physical, psychological, and socioeconomic burden on patients and their families.The impact on families is often catastrophic in terms of emotional as well as financial drain, as the cost of treatment is prohibitively high. We all derive our strength to fight this disorder by learning from struggles each of us is facing. For how long do we keep a smiling face when deep down our heart cries for a young child whose pyre was lit few hours ago.And the flames keep burning inside parents of many more.
Muscular Dystrophy is a group of rare genetic diseases that cause progressive weakness and loss of muscle mass over the years. Muscular Dystrophies are caused by Genetic Mutations that interfere with the production of muscle proteins that are needed to build and maintain healthy muscles. Early symptoms include: a wadding gait, pain and stiffness in muscles, difficulty sitting up or standing, walking on toes, frequent falls, etc.
This disease snatches away our RIGHT TO LIFE (Article 21) and we, in best of our intellectual capacity are practically rendered unproductive and a burden to society. As the disease progresses, it becomes increasingly difficult to even perform Activities of Daily Living such as eating, drinking, dressing/undressing, bathing/toileting, etc.
There are over 5 lakh young boys suffering from a most severe, fatal and wretched form of this disorder called DUCHENNE MUSCULAR DYSTROPHY (DMD), wherein they do not see the light of day beyond their second decade of their life. This is due to fast progression of the disease where most boys are wheelchair bound by the start of their teens and lose out to life by mid-20s due to weak muscles of heart and lung. DMD affected children are dependent upon their parents for most of their Activities of Daily Living(ADLs).
The quality of life for these children and their parents is deeply impacted and extremely challenging. Many parents especially fathers have to leave their jobs to support needs and wants of their children.
Another form of MD is entire set of LIMB GIRDLE MUSCULAR DYSTROPHIES (LGMDs), the most common form of adult MD, which have over 30 subtypes known to adversely affect shoulder and pelvic muscles and eventually affect whole body along with respiratory muscles. With palliative care and support, most LGMD patients can successfully contribute towards reducing economic burden instead of becoming a cause for it. Such bright young talents are being wasted away.Some forms of LGMDs are as severe as DMD as they adversely affect respiratory muscles as early as 6-7years.
There are many more forms of Muscular Dystrophies including Becker’s Muscular Dystrophy (a less severe form of DMD), Emery-Dreifuss muscular dystrophy (EDMD), Facioscapulohumeral muscular dystrophy (FSHD), Myotonic dystrophy (DM), Oculopharyngeal muscular dystrophy (OPMD), Tibial muscular dystrophy (TMD), Congenital muscular dystrophies (CMDs) including Bethlem myopathy, Fukuyama congenital muscular dystrophy (FCMD), Ullrich congenital muscular dystrophy (UCMD), Walker-Warburg syndrome (WWS), Rigid spine muscular dystrophy (RSMD).Prevalence of all forms of Muscular Dystrophy patients are projected to be anywhere between 15 to 20 lakh.
Muscular Dystrophy has no cure, but available treatments can reduce symptoms and slow disease progression. Many clinical studies and successful human trials are ongoing in US,UK and other countries.Recently two drugs based on Exon Skipping to treat a small segment of DMD, were released in US with a price tag of INR 3 Crore per year. Due to this exorbitant pricing, the treatment becomes increasingly cost prohibitive.
There is no CURE for us but we have many international research projects where clinical trials are in phase 3 and we expect our government to bring them through “Bridging Trials” in India. Beginning 2020 we see advent of GENE THERAPIES by US companies, Sarepta, Pfizer, Solid sciences, and molecular drug therapies by Fibrogen, Catabasis, etc.
Gene Therapy and gene editing using CRISPR-CAS9 are emerging as most promising form of treatment which requires research and trials before it is approved in India. We now have National Guidelines for Gene Therapy Product Development and Clinical Trials 2019 by ICMR and DBT to direct scientists and clinicians including industry regarding the procedures and requirements to be followed for performing gene therapy. Gene Therapy Advisory and Evaluation Committee (GTAEC) has been constituted and notified by Department of Health Research (DHR), Ministry of Health and Family Welfare, Government of India as an independent body of experts representing diverse areas of biomedical research, concerned government agencies and other stakeholders.
We have a reputed scientist, Dr. ArkaShubhra Ghosh (acknowledged as one of the esteemed member of drafting committee), whom we support to start the first of its kind, a preclinical study to treat Duchenne Muscular Dystrophy via AAV in his GROW laboratory, Narayana Nethralaya, Bengaluru, India. He has a team of qualified scientists and infrastructure but lacks funds to complete Pre-clinical study on animal model for treatment of DMD. PPMD, a Mumbai based NGO is supporting this study but is struggling hard to collect funds from parent community to complete the study.
We also have another scientist, Dr. Surajit Sinha from IACS (The Indian Association for the Cultivation of Science), who can develop Antisense-based therapy for the treatment of Duchenne muscular dystrophy (DMD) at much lesser cost in India but again is helpless due to lack of facilities and funds.
We have several Whatsapp groups and Facebook groups running to bring all patients and related associations on one platform. We, at pan-India, are all trying to the best of our abilities to cohesively integrate all of themincluding IAMD, PPMD, AMDA, TMDA, MIND and many regional associations from Bhilwara, Kolkata, Jaipur, Nagpur,etcwith active support of our team members. “We need nationwide awareness for Muscular Dystrophy right from medical fraternity to general public.” saysSanjanaGoyal, President, IAMD, working relentlessly since 1992 to provide relief and rehabilitation to MD afflicts. Ambrish Kapadia from PPMD, Mumbai, strongly feels that we should be looking at other molecular drug therapies as adjunct treatment alongwith Gene Therapy. “We all need to march forward together from all states,districts,villages to sensitize government to work towards providing correct diagnosis and support scientific community to facilitate treatment for all forms of MD” says Ajit Sinha, a parent in distress.
We have knocked government corridors several times. So many people are writing letters and addressing their grievances to Hon’ble Prime Minister and President also, but we are yet to see desired outcomes.On January 13,2020, the health ministry has come up with a new draft ofNational Policy for Rare Diseases, 2020, which highlights “scarce resources” and “lack of data” to provide support for treatment of rare diseases.
This policy has limited its purview to only 3 categories, while ignoring those which need research and development to initiate treatment. There is no clarity on inclusion of most rare genetic disorders including LGMDs, CMDs, FSHDs,etc, long termfinancial assistance, insurance coverage, containment of inherited disorders, no timelines mentioned to prepare nationwide registry and crowd fundingon rare disorders.Central government along with respective state governmentsand other big organisations including pharma companies and those which support various health programs can be roped in to allocate necessary funds to support treatment, research and development. CSR funds can also be utilized in this respect.
Instead of ostracizing and isolating the families with Muscular Dystrophy patients, we must develop an all- inclusive ecosystem to encourage and provide emotional and physical support to the family and patients. Health is a state subject.Keeping in view of the large numbers of MD patients throughout India, we request our government to revise this policy and execute it proactively dedicated to work towards following agendas:
1. MUSCULAR DYSTROPHY to be included in STATE HEALTH MISSION (SHM) as a severely progressive disability to subsequently create awareness and providerelief and rehabilitation to families who silently suffers at the hands of this atrocious disorder.
a. Separate department specially dedicated to rare disorders should be opened in Premier institutes such as AIIMS, NIMHANS,etc to diagnose via GENETIC TESTING along with clinical diagnosis, provide healthcare management, treatment in terms of intake of approved drugs and other gene therapies/molecular therapies as and when available, physiotherapy and advise on Dos and Dont’s related to disease.
b. Big posters and banners should be displayed in main area of all government hospitals across countries to spread awareness about MUSCULAR DYSTROPHY.
c. Compulsory Genetic screening followed by Genetic Counselling of affected families to prevent and contain the disorder.Pre natal testing for all genetic disorders to be made mandatory, the way screening is done for Downs Syndrome and other deformities. Neo natal testing to be done to make family aware and take corrective measures well in time.
2. We need government to maintain a Central Nationwide Registry for all kinds of Muscular Dystrophies and other rare genetic disorders. This can be done while door-door screening during upcomingCENSUS 2021.Premier healthcare institutes can share their data.
3. To fulfil high costs towards treatment and maintenance of this disease, many have drained their resources including selling off their lands, giving up their careers, taking loans and are eyeing eagerly towards Regular financial support in form of Sustainable PENSION from government.
4. This policy must provide incentives toscientists to cohesively work towards research and development for providing treatment. We must develop necessary ecosystem to bring “Bridging trials” of successful drugs in phase 3 to our country. Inspite of West eyeing India as a big consumer market, why none of the big pharma companies are interested to carry out their clinical trials here. Under “Make in India” project we must get formulated drugs needed to support our MD community.
5. All types of Muscular Dystrophies must be covered by INSURANCE COMPANIES towards meeting up their maintenance and treatment costs.
6. Specially-abled MD afflicts must be given suitable employment and empowerment in all government and private institutions to live a sustainable and dignified life (according to Article 15 from Constitution of India).
7. Education must be made available to all MD afflicts right from a 4 year old to an adult who wishes to pursue higher education. Many schools/colleges do not have necessary infrastructure to provide assistance to MD children, who lose out on their peer group and go into depression for lack of support and independence to carry tasks.
8. UDID card making process should be made user friendly (single window system) and prompt such as making of Aadhar card or Pancard where after furnishing necessary documents to the concerned authorities, users can download their cards via electronic medium.
9. Government health institutions along with charitable organisations to provide ASSISTIVE DEVICES including wheelchair/powerchair and other accessible devices including AFOs, splints, braces, toilet seat raisers, calipers, etc and ventilators, oxygen supply machines including bipaps to MD afflicts irrespective of their economic status. Government can give special subsidies and incentives to such companies.
10. There should be no income criteria while implementing the scheme as an afflict of Muscular Dystrophy has to bear 10 times cost for each and everything for smooth running of his/her life.
Together we must all integrate to build a single platform with a strong objective to eradicate Muscular Dystrophy and achieve higher goals.
So many precious young lives can be saved!!
We all can be given better lives. As empowered citizens of India, we wish to contribute to economy of our nation and lead better lives and not become a burden.
By Gitika Khanna, suffering from Dysferlinopathy, a form of LGMD since last 23 years.
