Amber Olsen never intended to become a rare disease advocate and expert on Multiple Sulfatase Deficiency (MSD).
And while today, July 30th, the world pauses to recognize MSD, an ultra-rare, progressive, and fatal disease that typically leads to death in early childhood - for Amber and families living with MSD, awareness isn't a single day. It's every breath. Every decision. Every sleepless night.
And now for Amber - her lifelong mission.
Amber Olsen is a mother, a fierce advocate, and the founder of the United MSD Foundation.
But before all of that, she was simply Willow’s mom.
What Makes MSD So Unique - and So Urgent
Multiple Sulfatase Deficiency (MSD) is caused by variants in the SUMF1 gene, which encodes the formylglycine-generating enzyme (FGE) - a single enzyme responsible for activating all 17 known sulfatases in the body. These sulfatases are essential for breaking down complex molecules in cells, particularly within lysosomes. When FGE is missing or malfunctioning, none of the sulfatases work properly, leading to widespread accumulation of cellular waste. This toxic buildup disrupts nearly every organ system - affecting the brain, bones, skin, liver, and lungs.
Children with MSD experience developmental regression, neurological decline, skeletal deformities, respiratory issues, and more. The disease can present with variable severity, but the most common form is rapidly progressive, with symptoms appearing in infancy and worsening over time.
Without intervention, MSD is universally fatal - making early diagnosis, increased awareness, and accelerated therapeutic development absolutely critical.
There is no cure. There is no approved treatment.
The Diagnosis That Changed Everything
Willow was bright, curious, and full of life - a little girl who found joy in movement, connection, simply being close to the people she loved… and in sneakily grabbing food from everyone’s plate with her little Spiderman hands.
But even early on, Amber sensed something wasn’t right.
Willow was smaller than other kids. She wasn’t hitting milestones. She never spoke.
There wasn’t a single moment when everything changed - just a quiet accumulation of signs that pointed to something deeper.
Then came the answer no parent is ever prepared for: Multiple Sulfatase Deficiency.
In an instant, Amber’s world changed.
Dreams turned into decisions. Milestones into medical terms.
Hope became something she had to fight for - every single day.
The diagnosis didn’t just name a disease. It rewrote everything.
And Amber refused to let that story end in silence.
A Mother Who Refused to Accept “No”
Most people would fall apart. Amber built a foundation.
She channeled her grief into relentless action, founding the United MSD Foundation to accelerate scientific progress, fund research, and create a future for children like Willow. From grant writing to cold-calling scientists, from building patient registries to launching biobanks, Amber became the project manager of a disease no one else was prioritizing.
She taught herself biology. She navigated drug development. She asked bold questions in rooms filled with PhDs. And she made it clear: this wasn’t just about science. It was about survival.
“I couldn’t sit back and just watch her die. I had to do something.”
Amber’s words, shared with us during a powerful conversation at a virtual session with our entire team, remind us of the emotional fuel behind every scientific breakthrough. Her story was one of heartbreak - but never of helplessness.
The Girl Who Sparked a Global Effort
Willow passed away before a treatment could reach her. But her life - so deeply loved, so fiercely protected - ignited change.
Her story brought urgency to conversations in pharma and biotech. Her face, her presence, her spirit - live on in every step forward.
“She won’t make it onto the trial, but Willow made the trial possible.”
Through the United MSD Foundation, Amber has built a blueprint for what rare disease advocacy can look like. The Foundation has funded pivotal preclinical research, supported patient registries, and united a global community around one goal: a future without MSD.
The United MSD Foundation is now one of the leading forces pushing for a cure. The foundation continues to support research, connect families, and demand attention for a disease that might otherwise be overlooked.
The System Is Broken. And Amber Is Fixing It.
One of the most powerful takeaways from our conversation with Amber wasn’t just about MSD - it was about the entire system surrounding rare disease.
Parents like Amber are forced to become scientists, fundraisers, and advocates because the infrastructure doesn’t exist. Because children like Willow are too rare to be profitable. Because without someone lighting the fire, the research simply doesn’t happen.
She spoke candidly about the fear, the anger, and the exhaustion of fighting on all fronts - while still holding her child in her arms. Her words weren’t just about her own experience; they were a call to arms for every stakeholder in healthcare to do better, move faster, and never forget the human faces behind the science.
Carrying Willow’s Legacy Forward
At Genomenon, we believe in the power of genomic knowledge to save lives. But stories like Amber and Willow’s remind us why the work matters.
We aren’t just curating variants or building platforms - we’re helping mothers fight for their children, and helping foundations like Amber’s turn pain into progress.
Willow’s legacy is already changing the course of science. But her story deserves to be heard far and wide - because it reminds us that behind every rare disease is a real family, a real future, and a fight worth joining.
We encourage everyone to watch the documentary The Zebra and The Bear, which powerfully captures Amber and Willow’s journey and the urgency of the fight against MSD.
Join the Fight
On this MSD Awareness Day, we invite you to:
- Learn more about MSD and its biology
- Support the work of the United MSD Foundation
- Advocate for faster rare disease research and equitable investment
- Remember Willow - and the children still waiting for answers.
Because no parent should have to do this alone. And no child should be forgotten.
