How India’s 70 million Rare Disease Patients Will Overcome
Amyotrophic Lateral Sclerosis. Myasthenia Gravis. Multiple Sclerosis. Male breast carcinoma. Thalassemia. Tethered Cord Syndrome. Ulcerative Colitis. Guillain-Barre Syndrome. Cystic Fibrosis. Complex Regional Pain Syndrome (CRPS). Ehlers-Danlos Syndrome (EDS). 22q Deletion Syndrome. Childhood Apraxia of Speech (CAS). Tuberous Sclerosis Complex. Prader-Willi Syndrome (PWS). FoxG1 Syndrome. Some of the Rare Diseases that have touched the lives of my family, friends, colleagues and their children.
We stood under bright blue skies in Boston’s Fort Point neighborhood. The late Spring sun shone down on us. The morning seemed colder than it was as a light breeze blew in from Boston Harbor. Chris, the CEO of the startup I worked at, made a few introductory remarks to rile up the troops. Very quickly, the order was given to commence operations. I hoisted my pail above my head and upended it. A bucketful of ice-cold water cascaded down on me. I bit my tongue lest I let out an involuntary squeal of protest.
Those few minutes constituted the full extent of my participation in the ALS Ice-Bucket Challenge of 2014. Sure, I “liked” and commented on a few of the 2 million videos posted on social media. In general, however, giving ALS the “out of sight, out of mind” treatment seemed logical. After all, you are more likely to get hit by lightning than you are to get ALS.
ALS is so rare that only 1 in every 20,000 people will ever get it in their lifetimes.
Well, in February 2020, lightning struck our little family. After a period of worsening mobility and a series of unexplained falls, my 66-year-old Mom (who lives in India) was diagnosed with ALS. In that instant, my Mom joined the estimated 4% of the world’s population — or over 300 million people — living with a Rare Disease. Worldwide, there is no single, widely accepted definition of what constitutes a Rare Disease. There is, however, broad agreement on this:
More than 90% of the estimated 7,000 rare diseases have no known cure.
My Mom’s ALS, too, has no known cure. I quickly learned that there are only four drugs approved by the FDA that can, at best, slow progression for some patients. And then there’s this — post-diagnosis, ALS patients have an average survival time of only 3 years.
Some 45 years before I confronted the brutal facts of my mother’s ALS diagnosis, Abbey Meyers, a Mom in Long Island, NY faced something similar. Her 8-year-old son, David, was diagnosed with Tourette syndrome, another Rare Disease. Abbey quickly found herself struggling with the “orphan drug problem.” Because the populations of patients with specific Rare Diseases (like Tourette Syndrome) are small, there has historically been little incentive for pharmaceutical companies to pursue promising drugs. She turned her frustration with the lack of treatments for Rare Diseases into advocacy — over loud protests from Big Pharma.
Abbey’s advocacy — and that of a loose coalition of other patients and caregivers that became the National Organization for Rare Disorders (NORD) — resulted in the passage of milestone legislation by the U.S. Congress. The Orphan Drug Act of 1983 provided pharmaceutical companies a series of incentives that turbo-charged research and investment in orphan drugs. Prior to 1983, only 38 drugs had been approved to treat Rare Diseases.
In the 20 years after ODA passage, over a thousand orphan drug designations were granted — and 249 drugs had received marketing authorization.
In 2002, the Rare Diseases Act (RDA) was signed into law — which provided additional impetus to the cause by establishing the Office of Rare Diseases under the National Institutes of Health. Today, these efforts have given the Rare Disease community critical new initiatives such as GARD and RDCRN. All because a Mom in Long Island, NY decided that she wasn’t going to accept the status quo.
As my Mom’s ALS progressed, I made the decision to come to India to assist with caregiving responsibilities in late 2022. You can read more about my Mom, the motivation behind my decision, and some of the challenges US caregivers encounter. I came to India cautiously optimistic. India — now the world’s most populous country — has 70 million Rare Disease patients. It had recently adopted and updated its own National Policy on Rare Diseases. It was investing significantly in the digitization of health records. It was emerging as a global medical tourism destination. And it has a long tradition of producing some of the world’s foremost medical professionals and researchers — although many seem to make their careers in the West.
The realities on the ground were somewhat different. I found my Mom’s specialists to be well-meaning and skilled at diagnosing her ALS. But they were not all on top of the latest developments, including the use of genomic testing or clinical trials for novel treatments. Nor were they willing to play an active role in orchestrating the integrated, multidisciplinary care approach necessary. My Mom only had access to 2 of the 4 drugs approved by the FDA — and we were quoted an annual cost of $145,000 for a third. The specialized medical devices she needed (manufactured primarily by multinational brands) were either unavailable in India or exorbitantly expensive. She — like most Indians — had no comprehensive health insurance to cover the significant costs associated with ALS (estimated to be $1.4 million in a 2014 study).
India’s National Policy on Rare Diseases does not even acknowledge ALS as a Rare Disease — leaving my Mom entirely ineligible for whatever support it confers.
Facing these realities hit me a lot harder than that bucket of ice water from the ice bucket challenge of 2014. And this time, I couldn’t bite my tongue. Because I really wanted to scream.
In the midst of my despondence, a random search on Facebook for “ALS India” led me to the ALS Care & Support Foundation. This is an informal, all-volunteer network of ALS patients and caregivers from every part of India. I filled out their web form, with no expectations. After all, when India’s leading neurologists had been of limited help, what support would I realistically receive from laypersons?
A few days later I received a phonecall from a group member. He — like most senior members of the group — had been a caregiver for a parent stricken with ALS. A brief conversation later, he had expertly determined the stage of my mother’s ALS progression, recommended specific supportive therapies and suggested the acquisition of certain medical devices (many available from group members in gently used condition). He added me to a large Whatsapp group (300+!) fully representative of India’s religious, geographic, linguistic and socioeconomic diversity. The group chat was so active with relevant conversations that it literally blew up my smartphone with notifications.
In the months that followed, this group became my North Star and my lifeline for all things ALS-related. When my Mom’s breathing started to deteriorate, I was frozen with indecision. SatvinderKaur (the founder of the group — check out her inspiring story here) got on the phone to give me a sisterly pep talk that got me moving. I drew much of my inspiration from Harsh Kumar Narula, another group member — an IIT Mumbai-trained engineer — who had become his father’s primary caregiver. When my Mom struggled with adjusting to her non-invasive ventilator, he helped me understand — with the help of a few simultaneous equations (!) — how our ICU-trained doctor had configured the machine incorrectly. And when I was having a tough week with caregiver stress, he helped me put things in perspective.
Today, ALS and other Rare Disease patients in India are up against a lot. But if Indian policy-makers, institutions and physicians are failing them, their fellow Indians are standing with them. At a time when the country’s political rhetoric has turned increasingly sectarian and nationalistic, the ALS Care & Support Group reminds me that anyone can be touched by a Rare Disease. That every impacted Indian— irrespective of race, religion, caste, gender, age, sexual orientation, socioeconomic status or what have you — is deserving of the opportunity to live their best life. That it is our collective opportunity, responsibility and privilege to make it happen.
The cure to thousands of Rare Diseases may yet be beyond our grasp. We may not find a cure to ALS in my Mom’s lifetime — nor even, perhaps, in mine. But I believe the selfless, tireless advocacy work of Rare Disease patients, their caregivers and supporters — of remarkable organizations like NORD, IORD, ORDI, ALS Care & Support Group and others working together — gives us our very best chance.
“I could not solve the problem for my son or my family without the strength of other families stricken by other rare diseases. It was all of us working together that built an impregnable movement demanding a solution. In the end… the forces opposing us could not win.”
— Abbey Meyers, “Orphan Drugs: A Global Crusade”
“Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, its the only thing that ever has.”
— Margaret Mead
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