Founding Story

Because Six Generations are Too Many

Susan Ruediger grew up knowing she was different. She never learned how to do a cartwheel, was chosen last for teams in PE and struggled to keep up with her friends. While Susan loved school, she dreaded ridicule from her classmates.

Susan has CMT and comes from a family with six generations of CMT. She has watched her grandmother, mother, aunts and uncles as their bodies deteriorated with time. She knew that weak, bony hands ran in her family and that running and physical strength did not. But she didn’t know why until her mother told her about their family’s devastating legacy at age 16.

Once she knew there was a reason for her physical awkwardness, she better understood why she was tripping through life. She tried to ignore her CMT and its impact by choosing activities that made her feel strong, rather than physical ones that made her feel weak.

When Susan and her husband started thinking about starting a family, they knew she had a 50% chance of passing CMT on to her children. When she delivered her first child, she knew something had to change. Susan was not going to allow the physical pain and emotional turmoil of CMT to continue for another generation. She knew she had to find a way to stop this disease.

Six weeks after the birth of her daughter, Susan contacted CMT experts in her area.  Unsatisfied with the local resources available to her, she reached out to national experts. While they helped her understand what was happening to her body, the only advice they could offer was to stay fit, maintain a healthy body weight and get leg braces to help with foot drop and balance if needed.

That simply wasn’t acceptable. Susan wanted to end her family’s legacy of CMT. She set out to find researchers whose life’s work was dedicated to CMT. They showed her a video of rats with CMT.

“Seeing the rats with CMT was transformational. They had hammer toes, like me. They fell off the balance beam, like me. They had drop foot, like me.”

Susan was inspired. She knew that if rats could be genetically modified to have CMT, treatments and cures were possible, too. Not someday, now.

Susan spent the next 10 years learning everything about CMT — about drug development, the approval process and the CMT community. In 2018, Susan founded the CMT Research Foundation with another patient, Patrick Livney.

Because One Generation is Too Many

Patrick Livney grew up like most boys in the 70s. He was active, smart and the king of the playground. He loved baseball, soccer and wrestling and was identified as a rising star in his hometown. Patrick had everything going for him, until his 15th birthday when something changed.

Patrick broke his ankle while playing on a state soccer team. After his rehabilitation, he broke it again in the same place — something that’s highly unusual. Patrick’s parents scheduled a visit with his family doctor who diagnosed him with CMT. In search of confirmation, his family scheduled many appointments in the US and Europe. The answers were the same. He has never forgotten what two doctors told him, as their words shaped Patrick’s attitude toward life.

A renowned neurologist in New York told Patrick that he would be wheelchair-bound by age 30. A doctor in Luxembourg’s advice was, “Use your brain and enjoy life. You don’t need to hit or kick a ball to be successful.”

Patrick and his family were scared, confused and angry. Where did this come from if CMT ran in families? After an extensive search, including familial DNA sequencing, Pat was told his genes spontaneously mutated upon conception and CMT was the wicked result. He is still awaiting confirmation of the gene which causes his type 2 CMT.

Patrick largely ignored his CMT throughout his late teens and twenties. He stayed fit, active and took up golf, even as his legs weakened. He was determined to rise above his CMT and successfully pursued a career in finance.

After Patrick turned 30, he still was not using a wheelchair and he sported a single-digit handicap in golf. But he knew he had to attack CMT and do all he could to find a treatment. He found his calling and passion in co-founding the CMT Research Foundation.

The CMT Research Foundation

Susan and Patrick started the CMT Research Foundation in 2018 with one single focus — fund research that leads to the development of treatments and cures for CMT. Together, they’ve built a robust board of directors, all with loved ones who have CMT. The Scientific Advisory Board includes experts not only in CMT but in drug development and commercialization. They analyze each research project with a keen focus on its ability to lead to a drug that is approvable for and available to patients.

As Susan and Patrick continue to watch their bodies deteriorate, they also have hope — hope that Susan’s family’s legacy will end and hope that no family will have to endure CMT. Susan and Patrick know that six generations of CMT are way too many. So is one generation.

We Invite You to Join Us

Please join us on the quest to develop treatments for CMT during our lifetime, so that one day no one’s life is limited by CMT and no child is born with the disease. Sign up for our email list to be the first to know about the latest CMT research and how you can get involved.

Board of Directors

Meet the Board of Directors who govern the activities of The CMT Research Foundation.

Advisory Board

Meet the experts who guide us on the path to funding treatments and cures for CMT.

Volunteers

Meet the volunteers who assist in the operations of The CMT Research Foundation.