Family Advisory Committee
The CUL3 Support & Awareness Family Advisory Committee is made up of a small group of dedicated parents of children with CUL3-related conditions, working to strengthen the CUL3 community through support, awareness, and advocacy. ​Our efforts focus on fostering connections among families, providing valuable resources, and advancing progress in CUL3-related research.​ Over time, we also aim to expand the committee by adding parent support representatives who can offer assistance within their local regions.
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If you are interested in joining the committee, please contact us.
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Read more about our members below.
Amanda
Amanda lives in Ontario, Canada, and has a background in experimental psychology. She has held various roles in the federal public service, including research, evaluation, and policy.​
Her son faced developmental challenges from an early age, leading to a long and difficult journey to diagnosis. At eight years old, he was diagnosed with CUL3-related neurodevelopmental disorder. With her research background, she immediately immersed herself in learning about the condition, reaching out to scientists worldwide—only to discover how little was known. At the time, fewer than 30 families had connected through a small Facebook group, seeking answers and support with no formal patient organization to turn to.
Recognizing the urgent need for advocacy, Amanda founded CUL3 Support & Awareness in 2023. Since then, she has been dedicated to building a global network, fostering connections, and advocating for increased awareness, support, and research to improve the future for her son and others affected by CUL3. She is grateful to welcome other dedicated families who share this mission.
Caiti
Caiti lives with her family just outside of Philadelphia, Pennsylvania. With 13 years of experience as a teacher, she eventually stepped away from the classroom to be more present for her family. She enjoys reading, exercising, volunteering, playing board games, and making memories with with her family - including their beloved Goldendoodle.
Her journey into the world of rare disease advocacy began when her son was diagnosed with a CUL3 mutation at the start of the pandemic. At the time, information about the condition was extremely limited. Now, she is hopeful that newly diagnosed families have greater access to resources and support.
Caiti has been deeply inspired by other rare disease families and their resilience. While the term “ultra-rare” can feel isolating, she firmly believes in the power of community, advocacy, and awareness. Through connection and collective effort, families facing rare diagnoses can find strength and hope.
Alberta
Alberta lives on the North Coast of Northern Ireland and works within the Northern Ireland Civil Service as a Staff Officer in the Department for Infrastructure (2001 to present). Her various roles have allowed her to gain valuable skills in presentation, communication, working collaboratively, analysis and critical thinking.
Alberta is the proud mother of b/g twins, Ada & Thom, who were born in April 2016 prematurely. Ada had a very low birth weight (3.5lbs) and a difficult journey followed through the next few years. Ada received a genetic diagnosis of CUL3-related neurodevelopmental disorder in February 2023 which was both a shock but also a comfort in that the difficulties experienced could now be put into context.
Alberta is looking forward to participating fully in the family advisory committee to help find solutions and to strive for progress. She hopes to help other families who find themselves in a similar position.
Christelle
Christelle lives near Brussels, Belgium, with her husband and two sons. She speaks French and is a nurse specializing in psychiatry.
Her son, Nathan, was born prematurely in 2014. From an early age, he experienced challenges in both physical and intellectual development and was diagnosed with autism. In 2023, genetic testing revealed that he has CUL3-related neurodevelopmental disorder. In the weeks following the diagnosis, Christelle turned to writing as a way to process her emotions. What began as personal reflections became a published book in French. Inspired by her son's struggles, she has also deepened her expertise in pain management, with a focus on individuals with autism and intellectual disabilities. Her professional background has given her greater awareness of the specific needs of this population and strengthened her advocacy for better care.
As a member of the family advisory committee, Christelle hopes to offer other parents the same sense of connection and support that she has found. She is honored to help raise awareness of the challenges faced by both children and adults with this rare genetic condition and to contribute to a growing network of understanding and resources for families.
Michelle
Michelle lives in Australia and has spent the past 17 years as a dedicated educator. As a teacher, she has developed strong skills in leadership, active listening, multitasking, creative problem-solving, and designing individualized learning programs tailored to her students’ needs.
A devoted mother to her daughter, Ivy, born in 2019, she has faced the challenges of Ivy’s early struggles with growth, weight gain, eating, and speech development. In 2022, Ivy was diagnosed with CUL3 neurodevelopmental disorder—a revelation that brought both clarity and new challenges. Michelle also has a mosaic diagnosis of CUL3, though with milder effects, deepening her understanding of Ivy’s journey and strengthening their bond.
As a member of the Family Advisory Committee, Michelle is eager to contribute to supporting families navigating similar experiences. She is passionate about sharing knowledge, fostering connections, and advocating for a more informed and supportive community.