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

Day of Hope for Annabel

 

Annabel's Hunt for Hope

A community-wide scavenger hunt will take place on September 16, 2017.

Registration/check-in will be from 1:00-1:30 and
the hunt will go from 1:30 to 4:00.

Register here.

There will be refreshments to follow along with judging and prizes.

Location
Rockstar Academy of Dance
1251 N. Mt. Juliet Rd.
Mt. Juliet, TN

 

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. The following weeks were brutal. 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 joy that Annabel brought us. Our senses were heightened and we 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 to never be taken for granted. No person could be loved more than our Annabel Joy, and our mission as her parents became to make her short life the very best it could be.

In late 2015/early 2016, Annabel began to show signs of disease progression. She had lost her vision, suffered numerous seizures each day, was able to eat very little and was unable to move her body in a purposeful way. We surrounded her with love and did everything we could to minimize her discomfort. Then, on February 17, 2016, at the age of three, she took her last breath. Her suffering was over.

Annabel was a beautiful, brave girl. A terrible disease took her precious life; but that life, though short, was big and important. In three short years, Annabel had amazing experiences and received enough love for a lifetime. She brought great joy to those fortunate enough to know her. Her legacy lives on, and her vibrant spirit resides in the hearts of so many who love her. Please join us in honoring her by making a donation to help fight Tay-Sachs Disease so that other children do not have to go through what she did.

Hunt for Hope

Why Day of Hope?

Why is Day of Hope important?

It is a tough time for federal funding of research in the field of lysosomal storage and leukodystrophy disorders, so researchers need support from organizations and foundations like NTSAD, Cure Tay-Sachs Foundation and Cure GM1. 

This June 18th article from UMass Medical is about one of the projects that NTSAD has been a part of since its inception over 10 years ago.

Read it here.

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