Hi! My name is Joey, and when I was just 3 months old, I was diagnosed with an ultra-rare condition on a gene called “ATP6V0A1.” My mom and dad are creating a fundraiser on my behalf to benefit the v-ATPase Alliance, a 501c3 nonprofit organization, as it is very near and dear to our hearts. The Alliance is the only organization in the world that represents patients with my condition, and their mission is to drive research forward with a goal of developing treatments for kids like me. 100% of all proceeds from this event will go directly to the Alliance! Please read my story below. 

In February 2025 when I was just a few weeks old I started having seizures. I was seen at Connecticut Children’s Medical Center and was immediately put on an anti-seizure medication called Keppra and had a battery of tests done including a large genetic panel. We were told results of the panel would take a while, so we just continued life as we knew it.

April rolled around and that is when we received our genetic results. I have a de novo pathogenic variant on a gene called ATP6V0A1. This means it did not come from my mom or dad; it was a spontaneous mutation. At the time, it was estimated that there were less than 2 dozen other kids in the world with the same condition. I am thought to be the third in the world with my specific variant. This condition was discovered just a few years ago in 2021.

This condition is related to Developmental Epileptic Encephalopathy. It can cause hard to control, drug resistant seizures. ATP6V0A1 affects the cells in my brain and they fail to send the signals to the rest of my body. This condition is so rare and so new that not much is known about my future including if I will be able to walk, talk or be independent. There can be a range of severity to this condition and unfortunately it can decrease life expectancy. 

I now see specialized doctors at Boston Children’s Hospital. I also have special therapy multiple times a week and have since learned to roll and even sit up! I work hard every day to get as strong as I can and I am so happy I get to play with so many fun people who want to help and love me. 

Thank you for reading my story and a little bit about me and my journey! 

Your support and generosity mean the world to me, the other children like me, and our future. 

Love, 

Joseph Raffaele 

You can read more about the v-ATPase Alliance at www.vatpasealliance.org. Or follow along on Facebook, Instagram and LinkedIn @vatpasealliance! 

Donations to the Alliance are tax-deductible. EIN: 93-4759423

Sponsorship Levels: 

Joe Joe Strong Fundraiser is proudly presented by Power Unlimited, Inc. 

In recognition of an extraordinary leadership gift that made this event possible. 

• Champion of Hope- $5,000 + 

• Dream Builder- $2,500 - $4999

• Path Maker - $1,000 -$2499

• Guiding Light - $500-$999