RARE Daily

It’s a Low-Down Dirty Shame

August 2, 2019

Here’s an idea for a reality TV show.

Get three moms with children who have a fatal, rare genetic disease. Make them go through a series of challenges—something akin to The Apprentice meets American Ninja Warrior. Maybe we can even add a talent round and viewers can vote via text on who has the cutest kid. The winner gets a life-saving gene therapy. And the loser, well… Okay, this needs some work.

Cruel? Inhumane? Shameful? Hasn’t reality TV always been those things?  The problem is this isn’t reality TV. This is the U.S. healthcare system in 2019.

During the past week, I’ve had three stories come across my morning newsfeed featuring parents seeking the recently approved gene therapy Zolgensma for their children with spinal muscular atrophy type 1.

SMA1 is the leading genetic cause of infant death. It is a rare disease caused by a mutation in the SMN1 gene, which encodes the protein critical for the maintenance and function of specialized nerve cells called motor neurons. If there is not enough functional SMN protein, then the motor neurons die, leading to debilitating and often fatal muscle weakness. Children with SMA1 have problems holding their head up, swallowing, and breathing.  

In May, the FDA approved Zolgensma, a one-time gene therapy designed to address the genetic root cause of spinal muscular atrophy by providing a functional copy of the human SMN gene to halt disease progression through sustained SMN protein expression. Novartis-owned AveXis, which developed the gene therapy, priced it at $2.1 million a treatment.

A spate of local news stories in Colorado had chronicled the efforts of Ciji Green to get her insurance company to pay for the treatment for her daughter Maisie, who was diagnosed with the condition at six months. After a fundraising and media campaign that led to public outcry and had people calling and writing the insurance company, there was a happy development. In an emotional video on Facebook, Green read the letter from her insurance company Rocky Mountain Health Plans informing her that it had reversed its previous denial.

A few days later Aetna and Anthem announced a policy change. Patients like Isaac Olthoff, an 11-month old child with SMA, will now be able to get the treatment. Previously the insurer only considered infants up to 9 months old eligible. Media outlets such as Business Insider featured patients like Isaac and this has gotten the attention others, such as The Wall Street Journal, The Washington Post, and NBC News to feature these stories.

And then there’s Wade Hosey, a 2-year-old with SMA featured in a story on WITN in North Carolina. His family told the television station that even with insurance it can still cost hundreds of thousands of dollars. They have set up a GoFundMe page. They have raised $13,690 toward a goal of $2.1 million.

In the world of rare disease it’s not unusual for patients and their families to turn to social media to raise awareness and money for needed treatment. But when it comes to getting access to an approved, life-saving therapy, it appears we are normalizing a process that requires patients to organize media campaigns, not just to raise money, but to pressure insurance companies into providing access to therapies for their approved uses.

As we are only at the beginning of a growing list innovative therapies to treat rare diseases—some with the potential to provide functional cures that carry seven digit price tags—it’s a situation that will only intensify.

As these stories grow more common, there will be growing fatigue among media and the public to act. We will grow numb to the outrage. It won’t be reality TV, just reality. And that is shameful.

Photo: Maisie, an SMA patient whose insurance company just recently reversed and earlier denial and said it would pay for her gene therapy treatment.

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