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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Annual Family Conference Photos

There are many special moments that have been captured at the Annual Family Conference over the years. Please stay tuned as we add to this album from recent years to photographs from years past. 

 

Day of Hope in Memory of Abhinav

       

2015 Day of Hope

 

In memory of 

Abhinav

 

"He was a sweet boy!

We miss him a lot"

 
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Jase's Benefit for a Cure for Canavan Disease

Thank you to all of you who have helped to support Jase's Ride!

  

Jase was a beautiful 8 pound and 1 ounce bouncing baby boy when he was born on March 27th of 2011. He was everything we had hoped for; 10 fingers, 10 toes, a head full of hair, and healthy. So we thought! Soon after he was born he developed what we now know of as a nystagmus. Puzzled, our pediatrician sent us straight to Children’s Hospital the day of his 8 week check-up. They ran test after test with nothing to show. My motherly instinct kicked in knowing that something was wrong and I begged for more testing. Three days later we got a call from the neurologist telling us that he wanted to see us in his office the following morning. Our hearts sank! 

The next morning our family piled into that dreaded small white room where we received the unbearable news. Our son had Canavan disease. Prognosis, death. The next 2 months became a whirlwind of bad news, long hospital stays, trips to specialists around the country, fundraisers, tears, heartache, and prayers. 

We were soon connected with a Facebook page of families that had affected children. They became our friends and our support. They helped us with the hardest of questions; “How could this happen?” “We aren’t Jewish!” “Did we just get struck by lightning?” Our new Canavan family quickly welcomed us with open arms and shared with us a non-profit organization called the National Tay-Sachs and Allied Diseases Association (NTSAD). NTSAD gave us hope and direction, but with every effort, every drug, every doctor, every trial, the inevitable happened. On August 14th, that same year, our sweet baby boy passed in his sleep curled up between Mommy and Daddy. 

NTSAD immediately reached out to us with comforting words. They were God sent at such a tragic time in our lives. We stayed in contact with them over the next few months and decided to attend our first Annual NTSAD Family Conference. There we poured our hearts out to people we didn’t know, but would soon become our adopted family. Words cannot express the feeling of being surrounded by people that know exactly what you are going through. It felt safe, secure, and comfortable. There was no judgment, only hugs and words of encouragement. 

I quickly got involved with fundraising and family outreach committees as I was full of hope and determination to live out my little boy’s legacy.

We are approaching our Seventh Annual Jase’s Cure for Canavan benefit on September 8th. With each dollar we raise and every family that I can comfort, a little bit of my pain goes away. I have been blessed with a family that I did not ask to be a part, but will cherish and love forever!

Mommy and Daddy love and miss you so much, Sweet baby Jase!

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Our Lil’ Chunk

3/27/2011-8/14/2011 

Celebrate our Sweet Baby Jase and Support Canavan Research!

Help us reach our goal of at least $20,000!

Day of Hope in Honor of Emma

Saturday, September 24, 2016

12:00pm to 3:00pm
Memorial Walk/Run * Silent Auction

Featuring

Live Music by Andy McQuillen

Adventure Brewing Company

Donate HERE

Historic Market Square
907 Princess Anne Street
Fredericksburg, Virginia

Join us for our Fourth Annual Day of Hope Event for Emma in honor of our niece who was diagnosed with Sandhoff disease.

Donate HERE

Leading the fight to treat and cure rare genetic diseases and focusing on funding research, supporting over 500 families and individuals worldwide, and raising awareness to prevent disease.

 

Day of Hope Yard Sale in honor of Annabel Pounds

Day of Hope Yard Sale

Hosted by Sheryll Bolton

in honor of her granddaughter, Annabel

September 20th & September 21st
3060 W. Jefferson Pike
Murfreesboro, Tennessee

Donate Today

Annabel Joy Pounds was born on Thanksgiving Day 2012, a seemingly perfect, healthy baby girl.  Her big sister, Amelia, was almost 3 at the time and couldn't have been happier about her new role as Big Sis.  Annabel continued to progress normally until she went for her 6 month check up and her doctor expressed concern that she was a bit “floppy.”  She was diagnosed with hypotonia (low muscle tone) and sent to physical therapy.  After a subsequent check up 6 weeks later showed no improvement, we were referred to a geneticist and a neurologist for further evaluation.  

On October 15, 2013, we received the worst news that a parent can get - that our child has Tay-Sachs Disease and will deteriorate mentally and physically over the next 1-3 years until her body and brain can no longer function, at which point she will die.  In a way, we experienced a death that day.  The daughter we thought we had died with that diagnosis, and all of our hopes and dreams for her future died also.  The following weeks were the worst of my life as we grieved and tried to figure out how we were going to survive this. Amazingly, the sorrow gradually diminished and was replaced little by little by the pure joy that Annabel brought us. Our senses were heightened and we were able to realize how special she really was and how everything about her - her scent, the feel of her skin, her crooked smile, her infectious laugh, her tiny perfect fingernails - was a gift never to be taken for granted. Annabel was privileged in that she knew no sorrow, no heartbreak, no fear, only love.  Annabel left us on February 17, 2016 and we miss her. Deeply. But what we know is that no person could have been loved more than our Annabel Joy, and our mission as her parents was to make her short life the very best it could be. And it was.

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