Physicians to gather in Jacksonville to find a cure devastating childhood disease

It’s the small successes of 4-year-old Jaxson using his hands to build that puts a smile on this family’s face. Ian and Shelley Karp know their days are numbered and sometimes the burden is heavy on their hearts.

“There is no cure, he is terminal, he will die,” said Shelley Karp.

Jaxson has a rare disorder called Tay-Sachs. It was passed genetically from his father who is Ashkanazi Jewish, a common carrier, and his mother, who is Scottish-Irish, and carries a mutated form. This disorder destroys nerve cells in the brain.

“You have to advocate and fight for your child,” explained Shelley Karp.

As the disease progresses, children regress and experience seizures, vision and hearing loss, and paralysis.

“When you’re hit with a result like this one, it just basically breaks you down to your knees. I mean, you could be upright and then fall to the floor,” Ian Karp said.

Jaxson uses a walker to get around and his parents told us he’s fully dependent on others. Items many of us consider simple, such as changing our clothes or picking up a fork, are complex tasks for Jaxson. In therapy and at home he uses Play-Doh to help increase his motor skills.

Families from around the country are in Jacksonville this week for the 40th annual National Tay-Sachs and Allied Diseases Association, which also funds research through their research initiative program.

Their son will be a part of a research study as physicians and funding organizations continue to work toward finding a cure.

“If he dies, and they get a cure then that was his purpose,” said Shelley Karp.

To help support research in the disease, visit the Cure Tay-Sachs Foundation website.

Cox Media Group