Two Local Families Need Our Support
For the first time in history, a therapy for Sanfilippo Syndrome Type B (MPS IIIB) is within reach. Our children, Poppy (9) and her little brother Oliver (2), are fighting this rare, genetic, terminal disease often compared to childhood Alzheimer’s—because it slowly steals a child’s ability to talk, walk, eat, and eventually, to live. Most children with Sanfilippo B don’t reach adulthood.
In 2025, our family joined with roughly a dozen others across the country and raised $5.5M+ toward an Expanded Access Program (EAP) — our family was responsible for $520,000+ of that total. That milestone is historic, but this battle isn’t over.
Our current goal is $500,000 for a Treatment-Ready Reserve—funds held securely and kept ready to deploy toward the next confirmed step as soon as the need is clarified. Expanded Access is limited, and whether Poppy or Oliver receive treatment depends on medical criteria, timing, and program capacity. We’re continuing to raise because the EAP may need additional funding to expand or continue, and/or we may need to pivot to a different therapy pathway as options and timelines evolve.
In rare disease, being ready isn’t “extra.” It’s how families protect time.
To help support this journey, donate at curepoppyandoliver.com and follow our journey on Instagram and Facebook @poppyandoliverkempf,
and on TikTok @curepoppyandoliver
Hello Down Country community,
First, we need to say thank you. Because of your generosity and continued support to this organization, our family attended the 2025 RYR1 Family Conference in Pittsburgh, PA. Our four-year-old son, Reece, was born with a variant in his RYR1 gene, which impacts every muscle in his body. We have many dreams for Reece, but at the conference Up at Down Country sent us to, our dreams grew a whole lot bigger.
We learned that Reece is a candidate for emerging research called allele deletion. There are currently labs successfully testing the theory that when an impacted allele is deleted from the RYR1 gene, the remaining functioning allele allows the gene to function properly. This would allow his muscles to utilize calcium to contract properly and give Reece the chance to move forward with his life, leaving behind the pain and numerous other struggles that come with RYR1.
Reece talks about the day he'll run races with his dad, using his own two feet. We believe this can happen and he knows that. But, what we dream about even more for him is the day his back has the strength to hold his spine in the correct position so there's room for his lungs to properly expand. We dream about a day when his body doesn't work so hard to breathe so he can gain weight, including fat, tissue, and muscle!
We've always believed in a miracle, but didn't know this treatment could be our miracle, until this past summer. This community helped us learn about how to help our son and now we're humbly asking for help to fund research that can make this treatment available for Reece and so many others. We're praying this is just the beginning. The RYR1 Foundation can open an official grant for research designed specifically for Reece and those impacted similarly with $120,000. That may be enough to get the research to the finish line and ready for treatment. We didn't know this hope was out there, but now we do, and now we have to run as fast as we can to make Reece's dreams of races a reality.
God bless and thank you!
Donate to the Reece Adrian Fund HERE
