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Families Affected by Rare Diseases


Families Affected by Rare Diseases

In this article, Sohil Parekh turns his focus to healthcare and the challenges faced by people with rare diseases and their families. 

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.


Key points include:

  • The “orphan drug” problem
  • Estimated rare diseases
  • Support for rare diseases


Read the full article, How India’s 70 million Rare Disease Patients Will Overcome, on Medium.