What is the Coffin-Lowry Syndrome Foundation?
The Coffin-Lowry Syndrome Foundation
2022-Present
In the summer of 2022, Mary Hoffman had decided to step down from the CLS Foundation and I took over running the Foundation. I am honored and humbled to have this opportunity. We all are forever grateful to Mary for her work in creating and running this foundation. I am the mother of two young men. Our youngest, Matthew, is 30 years old and has CLS. Our family lives in North Alabama. I recently retired from my corporate career and have more time to dedicate to the foundation. I hope to assist other families and bring awareness of CLS as Mary did throughout the past 30 years.
-Theresa Moxley
1991-2022
The Coffin-Lowry Syndrome Foundation was created in 1991 when my then infant son, Davis, was diagnosed with the condition. I searched for information and found very little was available. I contacted the National Organization of Rare Disorders (NORD), assuming that maybe they would have a dozen or so families in the U.S. in their database. At that time, there was only one other family in the NORD database – they had a 22 year-old daughter. Communicating among ourselves, we eventually expanded this to a half-dozen families. We all said the same thing, it’s too bad there isn’t a support group. Someone should start one. Well, I thought, I’m someone. Maybe I should start a support group. And CLSF was born.
CLSF has been a great resource for families affected by CLS. It gives us a place to share much-needed information that just doesn’t exist anywhere else. We have been instrumental in working with the research group in France that eventually identified the RSK-2 defect that causes CLS. It is by sharing what we know with each other that helps all of us more effectively help our children live the best life they can live. If you found this site to be useful, please consider making a donation. – Mary Hoffman
Episode 47 – Coffin Lowry Syndrome Foundation
This is CoRDS Cast, a rare disease podcast created by the team at Sanford Research. Our rare disease registry, CoRDS, connects patients and researchers everywhere. Here, you’ll hear an interview with Theresa Moxley, President of the Coffin-Lowry Syndrome (CLS) Foundation. Theresa sits down with Sanford Research personnel and discusses CLS to include the role the Foundation plays in assisting families. She also discusses the importance of families with CLS to register with CoRDS. In this podcast, Theresa helps to raise awareness of CLS one of 7,000 rare conditions. Rare conditions affect 1 in 10 people worldwide.