Get to Know KARES Foundation (KDM5C Genetic Variants)

Meet the KARES Foundation: Supporting Families Affected by KDM5C

KDM5C-related disorder, also known as Claes-Jensen syndrome, is a rare genetic condition that affects an estimated 300 people worldwide. Though caused by changes in a single gene, its impact can touch nearly every aspect of a person’s life, including development, behavior, communication, physical health, and more. Amid the challenges, families like Melissa McNeilly’s are building something powerful: a community that cultivates connection, knowledge, and hope.

In this spotlight, we introduce the KARES Foundation, a family-led nonprofit working to support patients, accelerate research, and raise awareness about this little-known condition.

What Is KDM5C?

KDM5C is a gene found on the X chromosome that plays an important role in the brain and nervous system. Variants in this gene can disrupt how neurons function, leading to a wide spectrum of developmental and health issues.

Some common features of KDM5C-related disorder include:

• Global developmental delay

• Intellectual disability

• Speech challenges (some are nonspeaking and use sign language or communication devices)

• Muscle tone differences and coordination issues

• Behavioral differences such as impulsivity, anxiety, autism, and ADHD

• Seizures, sleep disturbances, feeding issues, and ocular issues

  
  

Each individual with KDM5C is different. Some affected individuals have many of these features; others only experience a few. Because they are X-linked, KDM5C-related disorders generally affect males more severely, but females are also impacted, sometimes in more subtle ways.

There is currently no cure, and treatment focuses on supporting each person’s unique needs through therapies and medical care.

Julian’s Journey 

For four years, Melissa McNeilly’s family searched for answers as her son, Julian, underwent test after test. At age four, they finally received a diagnosis: a variant in the KDM5C gene. They happened to receive this information on Rare Disease Day 2020. Twelve families were simultaneously meeting at Albert Einstein College of Medicine in New York for the first ever family and science meeting around KDM5C genetic disorders.

That moment was a turning point.

“It’s a diagnosis that finally gave us answers—and a community,” Melissa shares.

The road leading there was long and often lonely. But once they arrived, Melissa knew she wanted to make it easier for the next family. That’s why she joined forces with other KDM5C moms, Amy Robl, Lara Erekson, and Amanda Lowry, to form the KARES Foundation (officially incorporated in 2022).

Melissa’s son, Julian, is nonspeaking and uses American Sign Language (ASL) and an AAC device to communicate. He’s introverted and easily overwhelmed, but affectionate and full of joy in familiar, safe spaces. Give him a quiet corner and some alphabet magnets, and he’s completely at peace.

“His world may look different, but it’s full of joy if you know where to look,” Melissa explains.

Celebrating his milestones looks different too. The first time he walked down stairs without help. The first time he communicated a full sentence using his iPad. These are victories built on years of therapy, patience, and love. From those quiet victories grew a louder calling. Melissa founded KARES with a vision: to build a world where every family affected by KDM5C is seen, supported, and empowered.

Why KARES? Building a Foundation for the Future

The KARES Foundation (KDM5C Advocacy, Research, Education & Support) was co-founded by four KDM5C moms across the US. The KARES Foundation is a family-led organization dedicated to improving the lives of individuals affected by KDM5C genetic variants through advocacy, research, education, and support. We work to advance understanding of KDM5C-related disorders and promote collaboration among families, researchers, and medical professionals.

We support research that leads to meaningful advancements in care and therapeutic development. By funding scientific studies and fostering interdisciplinary collaboration, we aim to accelerate progress in KDM5C research and ensure that discoveries benefit the community.

We empower families with resources and education, equipping them with the knowledge to navigate life with a KDM5C-related disorder. Our programs provide support and connection, creating a strong network where families can share experiences and expertise.

We know that the family voice is critical in shaping research priorities and ensuring that scientific advancements translate into real-world impact. The KARES Foundation bridges the gap between researchers and the KDM5C community, facilitating data-sharing and helping researchers access the information and samples needed to advance their work.

At our core, we believe in hope, innovation, community, and integrity. We are committed to fostering a future where individuals with KDM5C genetic variants receive the care and support they need to thrive. There were 144 attendees at our 2024 Family & Science Conference, which convenes biennially.

Why Join the Rare Epilepsy Network?

While not all individuals with KDM5C have seizures, epilepsy is a known feature in the condition in about 35% of patients. Because of this, the KARES Foundation joined the Rare Epilepsy Network (REN) to connect with other advocacy groups, amplify awareness, and advance shared research priorities.

Melissa’s background in education, marketing and humanitarian work, combined with her lived experience as a parent, has fueled KARES with purpose.

Learn More

Photo Credit: Logan Stearns Photography

You can follow the KARES Foundation at @KARESFoundation or visit www.karesfoundation.org. Together, we are lighting the way forward for KDM5C families, one quiet victory at a time.

Interested in connecting with KARES? Email us at info@kares.foundation.

By Melissa McNeilly, Cofounder, Administrative Consultant, KARES Foundation