The Sharkey family has once again created a fundraising team for KARES 5K Your Way for KDM5C.
KDM5C is a master regulator gene that controls how other genes are turned on & off in our bodies. A variant or change in this gene causes dysregulation and impaired neural function in all parts of the body throughout a person’s lifetime. This makes it challenging to study and difficult to target for therapeutics. The mission of the KARES Foundation is to improve the lives of those affected by KDM5C-related disorders through advocacy, research, education, & support for individuals and families.
This cause is very personal to us, as our daughter Jenna is affected by a KDM5C variant. Jenna is a sweet, loving, joyful little girl. She experienced delays in her development, missing milestones or achieving them on the cusp of falling behind. Jenna never crawled, and her walking was delayed until she was almost 2. We explored various medical, cognitive, and genetic tests to find the cause of Jenna's delays and issues. She first was diagnosed with Charcot Marie Tooth disease, which runs in our family but only accounts for some of the physical development issues. At age 6 she was also diagnosed with ADHD, and soon after, we received the KDM5C diagnosis.
Jenna walks with SMO supports now, supplemented with a stroller for distance walking. She has made huge strides with speech since starting speech therapy at age two. We have learned to mitigate some of her behavioral and social challenges through the use of medicine, positive reinforcement, psychological therapy, and lots and lots of patience and love. Jenna is also a carrier of KDM5C so her future children may be affected by this disorder as well. Despite learning and attention disabilities, Jenna loves school and is supported by speech and language therapy, ESE, occupational therapy, and physical therapy. She is an advanced yellow belt in taekwondo and loves art and coloring.
The symptoms of KDM5C-related disorders are wide-ranging, but reading about them gave us many of the answers we were looking for. We have this in common with the other affected families we have come to know over the last few years. Having their support has been invaluable as only a small amount of scientific and medical research has been done to date, so as parents, we are the experts on our children and this disability. Fortunately, some exciting research studies into KDM5C are now being conducted and we hope to raise awareness and find treatments and therapies to help our kiddos and future generations.
Would you please join us in our efforts to raise funds and awareness for families affected by KDM5C? “5K Your Way” means you can participate by making a donation or doing a corporate sponsorship, and join us in a walk, run, or roll the weekend of September 28-29, 2024.
