Cockayne Syndrome Foundation sees growth through outreach

PLATTSBURGH | Nearing the start of a third year with outreach and family support, the Cockayne Syndrome Foundation, based here, has made real headway in advocacy and helping families with children who live with a rare genetic condition. Founder, President and Ronin's mom, Geana Brassard Dyer, started the non-profit in 2024 to help CS parents gain knowledge and care their way through challenges unique to the syndrome. Geana and husband Chris learned through genetic testing in 2022 that their little boy Ronin has the genetic disorder. A rare genetic neurodegenerative condition, Cockayne Syndrome brings premature aging, extreme sun sensitivity, visual and hearing loss, and developmental delays, along with additional physical challenges that reduce life expectancy. Challenges also come in approaches to treatment and best practices addressing the array of health concerns. There is no cure for Cockayne Syndrome, and the genetic conditions presents in various degrees with varying challenges in different children. The CS Foundation set out to help organize the barrage of information to support families with items specific to their children's needs. Money raised by the CS Foundation goes directly toward purchases of care items, adaptive equipment and to assist with travel costs for specialized care. This month, the foundation received a $10,000 gift from a generous family whose daughter, Noémie, age 15, is afflicted with CS. Geana said Noémie's parents, Sophie Contant and Dominic Desroches, are from Quebec and connected with the foundation to garner information and ongoing support. The bond inspired a gift from the estate of their family's life-long friend, Patrick McNamara, an artist who taught Noémie to draw even as she struggled with fine motor skills. "He was a very present uncle for my daughters since they were born and always giving presents for Christmas and birthdays," Sophie said of their late close friend. "He was also a very quiet and shy man. One day, I asked him a favor for Noémie, she was having a hard time drawing and going outside the lines in her coloring books." Amid Noémie's frustration, he sat at the table, Sophie said, sharing some painting techniques, and he showed Noémie that drawing outside the lines was possible. "Nothing has to be perfect to be beautiful," Geana said. Sophie, Dominic and Noémie recently presented the CS Foundation with a $10,000 check to help CS families manage travel for special care. "Sophie's request was that the funds go toward helping more families afford the travel to see Dr. Peter Kang at M-Health Fairview Masonic Children's Hospital in Minneapolis, Minnesota. Dr. Kang is a pediatric neurologist and internationally recognized expert in Cockayne Syndrome and related DNA repair disorders," Geana said. "His research focuses on understanding disease mechanisms and improving care for children with rare neurogenetic conditions." In less than two years, the CS Foundation has enrolled 50 kids in Canada and the U.S. in their family resource program: 91 percent of all donations go directly to families. The organization has sent nearly 500 items to families to help defray costs associated with specialized care. "We have recently partnered with the National Initiative for Cockayne Syndrome (NICS)," Geana said. "In 2021, they created two manuals: Cockayne Syndrome: A Manual for Healthcare Providers and Cockayne Syndrome: A Manual for Parents and Caregivers." The manuals, Geana said, helped her save her son's life. Along with organization President Amy Marini RN, BSN, CHTP, Geana said they are working to update the manuals. Marini's has three children, two with CS who are both in their teens. "She's got an incredible amount of knowledge and experience," Geana said of the collaboration. "We call her the Sage. One of our goals for 2026 is to update the aforementioned manuals. It's been five years since the first edition. Lots of research and learning have been done. It's time to update our resources." Geana continues urging New York State Lawmakers to take up the Complex Care Assistant Bill (A464B / S4462B), which has been referred to Senate and Assembly Health Committees. "The Voices of the Medically Fragile of New York are actively lobbying for more support and sponsors. We were unable to get the bill through last year, so we'll try again this year," Geana said. As CS Foundation founder and Ronin's mom, Geana has also been asked to speak at conferences and on podcasts. Last December, she was a guest at the New England Regional Genetics Group and was featured in a special DNA Today interview, "Growing Old Too Fast: A Mother's Fight for Cockayne Syndrome Advocacy." The video interview features frank discussion about aspects and impacts of CS, individual care and community support with emphasis on shared experiences. The interview is available on YouTube: youtu.be/4KawNERhGuc Geana also spoke at a Genetic Counselor Seminar at Boston University, and most recently on "Conversations with State District 19 Senator Roxanne J. Persaud," who chairs the state Committee on Social Services. Their discussion on rare disease challenges looks at the importance of awareness and policy solutions that could better support patients and families in New York. The discussion with Sen. Persaud is also available on YouTube: Conversations With Senator Persaud: Inside Rare Disease Advocacy: NORD & Policy Change, March 16, 2026. Geana has also returned to her nursing career. "I've been working at CVPH in the Emergency Department. My life with Ronin has helped me become a much better advocate for families that have children with complex care needs," she said. The position also provides insight into what a care team is looking for when complex care patients arrive at the hospital. "I have been using this knowledge to brainstorm ways I can better prepare our CS and TTD (Trichothiodystrophy) community for those times when our kids need to get emergency treatment." Emergency care considerations encompass a range of unique metabolic and physical challenges, Geana said, from smaller airways and complicated airways to longer time spans for medications to metabolize. "Sometimes our kids need lower doses or providers need to be aware that its takes longer for a medication to leave their system," she said. Some drug interactions, such as CS and the antibiotic Flagyl(metronidazole), cause lethal reactions. Flagyl causes liver failure and serious adverse effects in patients with CS Syndrome. "The FDA (2021) recently recognized it as a contraindication for children with CS, warning of severe, rapid onset of acute liver failure," Geana said. Other problems can arise in emergency care when CS kids need to be fluid resuscitated, she explained: "Their kidneys can't flush as easily and normal doses could cause fluid overload." The CS Foundation is working on a travel-sized information card that parents of children with CS could keep in their child's backpack. The card would carry important information for providers to know. "We are working with CS community families to create a clinical passport, so providers can respond quickly," Geana said. "We are trying to make the information clear and accessible." Communicating from a mother's standpoint with an ER nurse's training carries a unique perspective. But Geana said she is most proud of Ronin, who will be six years old soon. "I am also proud of the growth of our non-profit. I'm proud to be working together with national rare disease advocates. I'm proud of how I've seen my community strengthen. I'm proud of the support we've been given," she noted. "I'm proud of my non-paying job." The CS Foundation has new handles on social media: @hopeforcs Cockayne Syndrome Foundation updates events and information via Facebook. Questions, concerns or insights about CS are welcome with many resources online: thecockaynesyndromefoundation.org Donations are also welcome in any amount: thecockaynesyndromefoundation.org/donate

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Cockayne Syndrome Foundation sees growth through outreach

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