The rare disease foundation journey
Being at the helm of a rare disease foundation is all consuming and non-relenting. What often starts as a way to drive change and channel energy to turn our darkest of times into light, can in itself risk taking us back under and back into the dark. Sarah Shaffer shares the highs and lows of her personal advocacy journey
Written by Sarah Shaffer
Malignant infantile osteopetrosis (MIOP) is an ultra-rare genetic disorder, once affecting 1 in 500,000 births, now occurring in approximately 1 in 250,000. It disrupts normal bone resorption, leading to excessively dense but fragile bones, bone marrow failure, and severe complications including blindness and neurological damage. The only known cure is a hematopoietic stem cell transplant, which replaces the defective bone marrow with healthy donor cells.
In August 2009, my son Mason was diagnosed with MIOP at just five and a half months old. By September, we were admitted to Nemours Children’s Hospital, and on October 1, 2009, he underwent a lifesaving stem cell transplant using donated umbilical cord blood stem cells. The transplant cured his primary disease1, but not without lifelong complications. Mason is completely blind in his left eye and partially blind in his right. Over the years, he has endured extensive dental surgeries due to missing 14 teeth and now since Aug 2024 (exactly 15 years from MIOP diagnosis) has been managing Type 1 diabetes.
As a mother I went into full-blown crisis mode. At the time, there were no dedicated support systems for MIOP families. We were initially included within the Leukemia and Lymphoma Society because of the blood disorder component, but that didn’t address the full scope of Mason’s disease. There was no place for us. No one to identify with. So, I did what I do best—I built something from the ground up.
In August 2010, I founded The Mason Shaffer Foundation, a rare disease foundation focused on advocacy and support for MIOP families. That work expanded into launching the first and only public cord blood donation programme at Main Line Health and Temple University Hospital until 2018. I didn’t just lead the charge—I was the charge. I learned how to collect cord blood, trained nurses at all hours of the night, and made sure every piece of educational resources was available.
The foundation operated on sheer determination, connections, and generosity. We never had liquid assets—every element of our work was pro bono, from the legal filings to hospital affiliations and the cord blood banking services. I leveraged relationships within the organizations I worked for, including United Healthcare, to secure pro bono legal work and media coverage. We partnered with the National Marrow Donor Program, Nemours, and Global Genes to further our reach and impact. At the end of it all, we successfully registered 1,250 cord blood units, available for transplant worldwide to treat diseases beyond MIOP. We refused to pigeonhole our mission—our goal was to offer everyone a fighting chance.
As Mason grew older, he stepped away from the foundation’s spotlight and I had to acknowledge a hard truth: the foundation wasn’t just for him—it was for me. It gave me purpose when I needed it most. By 2018, pharmaceutical companies bought out the blood bank that was the core of our programme and stopped funding it due to it not generating enough profit. Mason was thriving, but I was unraveling. My journey led me to rehab and I had to let go of the foundation’s active role in my life. But it never disappeared—it has simply been quiet.
Now with Mason’s diabetes diagnosis the foundation is finding new life. Our rare disease journey has evolved, but the lessons remain the same. Every rare disease journey is unique, just as rare as the next. Expecting others to understand or share our level of investment is an unrealistic expectation. The key to survival and advocacy is mindset and managing expectations. We cannot expect the world to fight for us—we must fight for ourselves.
When Mason was diagnosed with diabetes we made some calls. First, to his transplant doctor, now CEO of the hospital, and then to the head of the Leukemia and Lymphoma Society. We jokingly demanded a refund: ‘Your star transplant patient has a defect. We’d like to speak to the manager.’
There are no refunds in rare disease. No guarantees. No return policies. Just the relentless pursuit of solutions and the constant need to pivot when life throws another curveball. That’s grassroots advocacy—it’s messy, exhausting, and deeply personal. But for those of us in the trenches, it’s what separates falling apart from pushing forward. It’s what turns chaos into clarity, one hard-earned step at a time.
This experience, along with my own journey of survival, led me to write my best-selling book, The Dumpster Fire Diaries: Get Off the Hot Mess Express. The book explores not just Mason’s rare disease journey, but the deeper lessons about resilience, motherhood, and finding clarity in the chaos. It’s not a tidy story with a happy ending—it’s raw, honest, and exactly what other moms in the trenches need to hear.
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