Acute health events in adult patients with genetic disorders: The Marshfield Epidemiologic Study Area

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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.

For details on their mission, visit:

Hynes Family GoFundMeEleanor Kaplan Foundation

Mother Finds Support Through Nonprofit For Daughter With Rare Genetic Disorder

MOREHEAD, Ky. (LEX 18) — Emilia "Emi" Joseph loves looking through books, catching bubbles, and spending time with her mother, Kelsey Joseph. But when Emi was a newborn, her mother noticed something wasn't adding up.

"I think she was 3 months old when we first started noticing her head growth wasn't progressing," Joseph said.

Joseph took Emi to get checked out, but answers didn't naturally come. Two years later, after several tests, doctors were able to give a proper diagnosis.

"I didn't know what CASK was until it affected my home," Joseph said.

Emi was diagnosed with a rare genetic disorder related to the CASK gene. It's a neurological disease that affects the gene responsible for brain development and function. Symptoms can include developmental delays, disabilities, and seizures.

The revelation caused Joseph a lot of stress. With limited medical information and not knowing what's next, she felt stressed. So she went online and scrolled through Facebook, finding several CASK support groups. One led her to a nonprofit called Project CASK.

"Our Facebook group is a lifeline, but it's also where you can get the best information about the disorder is from other parents right now," said Hitomi Kubo, Project CASK co-founder.

Kubo is also a parent of a child who has the disorder and can relate to families and the struggles that they will face.

"Every time we have a new parent come in the group, I feel that feeling I had when I heard my daughter's diagnosis — just the utter fear, terror, and uncertainty," Kubo said.

Project CASK is parent-led, with each one telling their story while trying to bring awareness to the disorder. With limited resources, Project CASK hosts fundraisers that will go toward research and treatments. The members want to provide relief and hope.

"At least I feel like I can tell them that treatment isn't tomorrow, but there are things happening. Treatment is possible and we're doing something about it," Kubo said.

With each day, Emi is growing and new challenges may arise. Joseph hopes that with the help of Project CASK, Emi will have a bright future.

"It's so often that people see them just as kids forever. I want the world to get ready for her as an adult, and get ready for all the kids as adults. Because that's what Project CASK is working towards: making it so they can have happier, longer, independent lives. I think that's all we want for our kids," Joseph said.

Project Cask is looking for volunteers to help with its cause. For more information, visit Project CASKCask Gene DisorderInnovative Rare Disease Non Profit.

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