Joseph Raffaele
Fundraising on behalf of v-ATPase Alliance
Fundraising on behalf of v-ATPase Alliance
$4,785
Raised
39
Donations
$50,000
Goal
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
Our donors
JH
Joseph Horvath
donated
$50
God bless the little man
J
Jonathan
donated
$400
LD
Linda DeBellis
donated
$50
Praying for Joey❤️
AG
Anthony Gerardi
donated
$50
R
Raymond
donated
$50
God Bless Joey and his Family
MA
Marty & Denise Augelli
donated
$100
CC
Chanelle Carroll
donated
$25
Let’s go Joey!!!
LP
Lauren Pepiciello
donated
$50
LG
Linda Gleason
donated
$50
God Bless you Beautiful Boy🙏🏻🙏🏻
JJ
Judith Jones
donated
$250
JS
Joan Stevenson
donated
$50
S
Sal
donated
$100
We love you Joey!!!
AL
Allyson Lund
donated
$50
SG
Susanne Gonzalez
donated
$50
Praying for Joey and all of you. I know how hard this is to navigate as I have special needs kids of my own. Sending love.
P
Pam & Sal
donated
$100
JB
Joyce Baxter
donated
$100
M
Maria
donated
$200
Sending so much love 🩵🩵🩵
DP
Donna Palucci
donated
$100
Joey: We've been watching your story and want to help. You keep trying your best! Russ and Donna Palucci
J
Joann
donated
$100
Stay strong 💪
J
Joseph
God bless little man