Riding for Nate (KCNT1 warrior)

On June 10th 2023 I will be traveling across the country to Philadelphia, PA to participate in the Million Dollar Bike Ride! I am riding to raise awareness and funds for research to find a cure for KCNT1 related epilepsy. My youngest son, Nathaniel, was diagnosed with KCNT1 two weeks after birth on July 9th 2021. It has been so heart-wrenching watching our baby boy struggle with so many health complications that come along with this diagnosis and we want to do everything and anything to help with finding a cure.

KCNT1-related epilepsy is an ultra-rare, seizure disorder caused by mutations in the KCNT1 gene. This gene mutation is de novo which means that it was not passed down from either parent. The chances are 1 in 36 million. It is so rare that there are less than 300 cases known worldwide.

This type of epilepsy is unresponsive to anti-seizure medication. When Nate was first diagnosed he was having 50+ seizures a day; his most recent EEG showed he was having 7 in a day. Having constant seizures has led him to missing most of his developmental milestones including learning to walk or talk.

The Penn Medicine Orphan Disease Center hosts this event to raise money for research in rare diseases. We are so grateful that KCNT1 was chosen as one of the selected rare diseases this year. 100% of your donation will go towards rare disease research for KCNT1! The KCNT1 foundation’s ultimate goal for this particular event is to raise at least $20,000. We need to raise a minimum of $20,000 for a research grant. All funds raised between $20,000 and $30,000 will receive a dollar-to-dollar match by the Orphan Disease Center to be used for a 1-year pilot grant.

KCNT1 Foundation is currently doing an AMAZING job at connecting with physicians, researchers, and pharmaceutical industry professionals from all over the world in order to support preclinical and clinical efforts to develop a cure.

We remain hopeful that together we can find a cure to help our baby boy. I invite you to be part of this experience with me by helping with fundraising for this cause that means so much to my family.

Thank you so much,

Lorena Avonce