EPISODE HIGHLIGHTS
Elizabeth Reynolds is a mom of three children and her oldest, William, has Pearson syndromeA rare disease that targets the bone marrow and pancreas. Through dysfunction of cells in the bone marrow that produce white and red bloods cells along with platelets., a multi-system disease caused by a deletion in mitochondrialRelated to the mitochondria. DNA. She is also the Founder of The Champ Foundation, which supports research toward better treatment and a cure for single large-scale mitochondrial deletion syndromes (SLSMDS), like Pearson syndrome.
How do you keep appointments and records organized and what advice do you have for other parents to stay organized?
It’s a learning process. I have done a lot of note-taking and documenting to learn how to stay organized. I’ve found a routine and a method that works to stay organized and to effectively coordinate and communicate with William’s physician care team. You can create a document for yourself to refer to and have doctors sign off on your document at appointments to serve as an extra layer of organizing and validating information.
Can you tell us about the foundation you started?
A few weeks after William was diagnosed, we started the foundation with the immediate realization that there wasn’t a treatment or cure for Pearson syndrome. We also found there wasn’t funding or research focused on Pearson syndrome and we felt we needed to start the foundation with an exclusive focus on our rare, mitochondrial deletion disorder specifically. Our primary goal was fundraising and in 2019 we were awarded the Chan Zuckerberg Rare As One grant, which helped us transform our purpose and goal of funding academic institution research, but also to help other families. We started the Champ Foundation Registry, funded a biorepository at Boston Children’s Hospital and a multi-site natural history studyA type of medical research study in which researchers examine how a disease or medical condition develops over time. to better understand the trajectory of the disorders.
What are the goals for the foundation over the coming years?
Our goal is to use the information gathered from the registry and family surveys to show the FDA and other agencies that we are learning outcomes and that clinical trials should be targeted for KSS and Pearson syndrome.
How can a family with a new diagnosis get involved with The Champ Foundation?
Lots of families are introduced to us right after receiving a diagnosis, so we have a checklist with a step-by-step process of what to do available on our website. We also recommend families get involved in research, participating in our registry and natural history study. Our foundation can assist with travel costs to participate in the natural history study if that’s a barrier for a family.
LINKS & RESOURCES MENTIONED
elizabeth.reynolds@thechampfoundation.org
CONNECT WITH MITOACTION
Website
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
