We are so excited to announce YEAR 5 for the KARES Foundation’s virtual 5K and fundraiser, and another year of Jenna’s Journey!
Our daughter Jenna is 11 now. She has a similar story to some of the other affected kids: she achieved many milestones late, had delayed speech and motor development, and saw doctors in an array of disciplines until she received the genetic diagnosis of a KDM5C variant at age 6.
KDM5C is a gene that affects other genes within our bodies, and when it does not function properly, this can cause developmental, cognitive, and behavioral issues. These can be seen on a very wide spectrum, so everyone’s symptoms and personal challenges can be different from one another’s. KDM5C is known to cause ADHD, autism, speech impairment, developmental and motor delays, anxiety, epilepsy, gastrointestinal issues and other characteristics.
Jenna is still one of the happiest kids on the planet. She acknowledges that she has disabilities, some hidden, some obvious, but she has never let that stop her from doing anything she sets her mind to. She knocked 4th grade out of the park, earning A-B honor roll for half the year, and became a local celebrity by participating in her school’s news crew and presenting fun facts on the school news a few times a week. She receives various services through her IEP at school and is a very hard worker despite challenges with ADHD and reading comprehension. She is testing to become a brown-white belt in Tae Kwon Do, and loves swimming, video games, and spending time with friends, family, and her extended family at camp and karate.
The KDM5C gene is x-linked, meaning that it’s expressed from the x chromosome, of which females have 2 and males have 1. Broadly, this suggests that KDM5C symptoms can be more pronounced in males than females, but if Jenna chooses to have children, she has a good chance of passing on the variant to her children, especially if she has a boy. Throughout her life, Jenna will receive ongoing medical care. Our hope is that Jenna and other people with KDM5C variants will be able to benefit from advances in therapies that will be developed from scientific research being done today.
The mission of the KARES Foundation is to improve the lives of those affected by KDM5C genetic variances through advocacy, research, education and support for affected individuals and families. We’re asking again this year for your support to help us raise awareness and funds to further research into causes, therapies, and a better understanding of the variants to help shape a healthier future for Jenna and our KARES community.
