I was introduced to Amber Olsen, the “mama bear” in the film, back in the spring of 2016 when a mutual friend asked if I would be willing to meet with the mother of a child with a rare disease who was looking for someone to make a short fundraising video.  I had recently finished a documentary film called THE INVISIBLE PATIENTS about a nurse practitioner who cares for very ill homebound patients.

When we met, Amber told me the story of how her 2-year old daughter Willow had been diagnosed with a fatal, ultra-rare disease called Multiple Sulfatase Deficiency (MSD), an inherited genetic condition that leaves the body without the enzymes necessary to filter out natural waste by-product created by normal cellular activity. 

At the time, there was no known treatment or cure for MSD, and the progression of the disease would be relentless and painful.  As the cellular waste built up, all of Willow’s vital systems – brain, muscles, vision, respiratory, digestive - would soon begin to fail.  The doctor told Amber and her husband Tom to go home, treat her symptoms, and keep her comfortable until she died, likely before her 10th birthday.  It was a devastating blow that would change the course of their lives in unimaginable ways.

Unwilling to accept that nothing could be done to cure Willow, Amber and her husband immediately went to work learning as much as they could about MSD —the science behind it, and any possible way forward that would help their daughter live.  

Early on, Amber found a mother in New York whose child had a similarly deadly lysosomal disease called Sanfilipo Syndrome.  She told her that she had recently spent over $30,000 to purchase a herd of sheep in New Zealand, which she was planning to use for large animal testing.  Amber’s first thought was, “Am I supposed to buy my own sheep?”  

As Amber told me this detail, I realized that there was a larger story here about an “ordinary” family embarking on a solitary quest to raise millions of dollars and push for a pioneering gene therapy treatment save their daughter’s life. They had no road map, no guide, and the odds were stacked high against them.  They were utterly unprepared, and as much as their friends and acquaintances sympathized with their situation, no one could truly understand what they were going through.

I thought theirs would be a fascinating story, but more importantly, I was struck by how unfair and, I’ll say, immoral it was that in the year 2016, in the wealthiest country in the world, a mom and dad had to figure this out on their own.  

Amber and her husband Tom agreed to allow me to make a film, and for the next seven years or so, I spent time with their family, went with them to fundraising events, Willow’s appointments, meetings with scientists and specialists, and generally tried to capture a sense of their life as parents of a child with a fatal, ultra-rare genetic disease with no known treatment or cure. 

Willow turned 11 in August of 2024 (her little birthday celebration was the last thing we shot), and the research that Amber pushed so hard for ultimately led to MSD being selected for a kind of pilot gene therapy research program at the NIH which all but guarantees that children with MSD will begin being treated in clinical trial within the next year or so. 

The NIH Bespoke grant announcement is a real victory that will potentially lead to a gene therapy treatment for this terrible disease.  Sadly, Willow passed away a few  months after she turned 11 surrounded by her family and long-time caregivers.  As her mother Amber said, “She’s been freed from her MSD body.”  

Willow’s legacy will live on and will likely save the lives of future generations of children unlucky enough to be born with MSD.

We are at a critical moment for the development of treatments for rare and ultra-rare diseases.  As new, transformative technologies like gene therapy are being tested in clinical trials to treat previously incurable genetic diseases like MSD, it’s important that the wider healthcare community understand how these treatments work and how they fit into the overall rare disease landscape.  The Zebra and the Bear can play an important role in educating the healthcare/scientific community about gene therapy, but also about how a rare disease diagnosis can be devastating for families. 

As Amber says in the film, “The truth is rare diseases are not in fact rare.  There are over seven thousand of them, affecting millions of families.”  Which means that families around the world are experiencing the pain and heartbreak of watching their children suffer.  It is our intention to use this film to demonstrate what families shouldn’t have to do in order to care for and ultimately save their children.