My young nephew Leo is an inspiration to many. In my case, he inspired me to compete in an Ironman – a 70.3 mile triathlon in Augusta, Maine this summer. I am competing to raise awareness around Leo’s condition; KCNA2 Epilepsy, a rare genetic disorder with no cure and one which currently lacks funding to start a clinical study.

Every dollar you and I raise through this Ironman event will help support children and their families affected with KCNA2 globally. The funds will be used to raise awareness of this rare disease and purchase necessary medical equipment, including hospital grade rehabilitation machines, aspirators, and wheelchairs, for children afflicted worldwide. Ideally, we will also be able to assist with the launch of a clinical study for KCNA2. I have partnered with the KCNA2 Epilepsy Global Alliance (www.kcna2epilepsy.org) for these efforts.

So, what is KCNA2? Like most people, I was unaware of this condition until Leo was born in December of 2019 in Budapest, Hungary. His mom’s ultrasound scans, and standard genetic screenings were normal during an uneventful and healthy pregnancy. However, shortly after birth, Leo began having epileptic seizures daily.

During the first few days of his life, he underwent spinal cord fluid tests, blood tests, MRIs, ultrasounds and x-rays, without any definitive results or indicators of the cause of his seizures. It was not until Leo was 7-months old when a genetic test result showed that he had a dominant KCNA2 de novo genetic variation (“de novo” indicates that neither parent passed down this variation). Children born with a variation in the KCNA2 gene can have a wide spectrum of conditions, but in general, the variation affects the nervous system, physical function, intellectual development, and vision.

Initially, Leo was repeatedly turned away by all Hungarian government and private institutions. His parents, Lilla & Tamas, were told that Leo’s condition is too unique and challenging for any medical institution in Hungary to treat properly. However, as loving parents who would not take “no” for an answer, they persistently chased down every potential option and persevered through all the uncertainty despite COVID lockdowns presenting additional challenges.

When Lilla & Tamas met Gabor Varga, a glimmer of hope emerged. Gabor’s son is also severely disabled and for many years, Gabor was unable to find an institution appropriate for his son’s condition. So, in 2018, Gabor took matters into his own hands! He founded Fellegvar Daycare – an institution focused on professional care and development for severely disabled kids in Hungary. After a year of petitioning at the local government, Fellegvar Daycare was finally given the green light to become operational. Gabor secured a state-funded facility for the school and hired individual caregivers for each of the five children that had enrolled. Enrollment numbers and associated staff have more than doubled since inception of the program and continues to grow to this day. Leo is a lucky member of this daycare and his peers are well-cared for and supported at Fellegvar.

Leo’s additional major source of support has come from the KCNA2 Epilepsy Global Alliance (“Alliance”). This organization was founded by Dr. Nancy Musarra, a licensed clinical psychologist in Ohio, whose daughter was also born with the KCNA2 genetic variation. The Alliance (www.kcna2epilepsy.org) is expanding its network of parents affected by KCNA2 to facilitate a community of critical support across borders. For Lilla & Tamas, the Alliance network made them aware that they are not alone and they felt empowered knowing that they had a global family fighting on the same side.

Organizations such as the Alliance and Fellegvar Daycare provide the hope for a brighter future for these children. Please consider supporting this worthy cause and my inspired efforts to raise awareness around KCNA2. Thank you for reading my story!