On January 21, 2022, our family's lives changed forever when our daughter, Sophia Rose, was born with a KCNQ2-related disorder. Sophia started having seizures when she was 9 days old and was misdiagnosed for 6 weeks until we went to the ER and were admitted for an EEG and a number of other tests which determined that Sophia has a genetic deletion on her 20th chromosome which includes the KCNQ2 gene. Sophia has been diagnosed with low tone, global developmental delay, strabismus, nystagmus, and autism, in addition to epilepsy. This past year Sophia has had 4 EEGs since her latest diagnosis in July - Continuous Spike-Wave during Slow-Wave Sleep (CSWS). We are currently trying to find a medication that will control this condition. Because Sophia's condition is so rare, we need organizations like the KCNQ2 Cure Alliance who is researching and spreading awareness so that hopefully one day KCNQ2-related disorders can be treated and better managed.  

We are thrilled to be participating in Team KCNQ2, a fundraiser supporting KCNQ2 Cure Alliance! We are passionate about this cause and need your help! Every donation—big or small—helps us reach our fundraising goal and directly impacts this important cause.

Here's how you can help:

• Donate: Contribute whatever you can. No amount is too small!
• Spread the Word: Share my fundraising page with your friends, family, and social networks. Let’s spread awareness so we can raise more!

Thank you for standing by us in this effort. Your support means the world to us!

Kaitlyn, Jeff, Penelope and Sophia