Pioneering gene editing therapy could give 5-year-old with rare, fatal disorder a new chance at life
PHILADELPHIA (WPVI) -- A 5-year-old from Center City has faced rare odds since birth, and now this warrior is in a real life race to rewrite his story.
Pierce Hynes is battling not one, but two rare genetic disorders - one of which is fatal, called TECPR2.
But a pioneering gene editing therapy could give him a new chance at life
"Pierce is our super social little butterfly," said mom Rachel Hynes.
But Rachel Hynes says getting to this point wasn't easy. Pierce has beaten the odds more than once.
Weighing just over 3 lbs. at birth, he's been living with Temple syndrome. It's a rare growth hormone disorder characterized by low birth weight, feeding difficulties and stunted growth.
It wasn't until last year that doctors delved deeper to see why he still wasn't hitting milestones.
"We got our second diagnosis, which is called TECPR 2," said Rachel. "That is a ultra, ultra rare genetic mutation on the 14th chromosome, where he has a double."
She says TECPR2 is fatal.
Rachel says a glimmer of hope came from the Eleanor Kaplan Foundation and the researchers that created a gene therapy cure.
Michael Kaplan also has a daughter with TECPR2.
"It will be one of the first of its kind and we have just received our, not full approval, but what's called the pre-approvals from the FDA to move forward into clinical trials," he said.
Doctors at CHOP used customized gene-editing for a 9-month-old baby battling a rare disorder that causes dangerous levels of ammonia to build up in the blood. Doctors had to find a way fix that error without impacting the rest of his genome.
Rachel says nearly $1 million dollars in private funding is needed for the lab space to produce the drug.
"Now we're literally just racing against time to raise the funds to actually produce this cure,'' she said.
And for Pierce and his family..."All of a sudden it's gone from wondering if our son will ever make it to kindergarten, to Nope. We're going to pre-k. We're going with his twin brother to school next year," said Rachel.
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