‘I Just Want My Kid To Have A Good Life’: Colorado Boy 1 In 40 Worldwide Diagnosed With Rare Disease
By Michael Abeyta
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DENVER, Colorado (KCNC) — Four-year-old Maxwell Freed has a favorite superhero: Spider-Man. He wears Spider-Man shirts and carries around a stuffed Spider-Man doll everywhere he goes.
“Just yesterday he told me to go get his Spider-Man,” jokes his mother, Amber Freed.
Maybe having a superhero around makes him feel safe. You see, when Maxwell was 1, his doctors told Amber Maxwell has a disease that is so rare, it doesn’t even have a name. It’s called SLC6A1 after the gene it affects. Only 40 people worldwide have been diagnosed with it.
Maxwell has trouble moving and communicating. The disease also causes his body to stiffen up and could lead to epilepsy. That led Amber to quit her job and dedicated herself to finding a cure.
“I just want my kid to have a good life,” says Amber.
She is working with scientists from the University of Texas Southwestern in Dallas to develop a gene therapy to cure the disease, but when the pandemic shut down labs, her efforts were put on hold. So, she turned to plan B.
“We decided to test every known FDA compound against Maxwell’s disease in hopes of reaching a new medical breakthrough,” says Amber.
When they tried phenylbutyrate they saw promise and when Maxwell tried it out, Amber almost immediately saw improvement.
“I never thought I would see the day when he was playing with his twin sister Riley,” says Amber.
She says the highlight was when Maxwell, who Amber says has always been a “cuddle bug” asked his mother for some affection by asking her to snuggle him.
“I never even imagined a time when he could speak,” says Amber.
The drug has allowed Amber to bond with the little boy she always wanted to get to know, “I had a son and I loved him dearly, but I didn’t really know the person.”
She was able to get the drug manufacturer to donate a year’s supply for Maxwell, and she found a way to continue research into gene therapy. Results are looking promising, but she now needs to raise $3 million to fund the procedure.
She is raising money online and hosting a golf tournament fundraiser at Fossil Trace Golf course as well as a silent auction.
All so her Spider-Man-loving son can be protected. So even though Maxwell has never met Peter Parker, maybe, he and his sister Riley still had a superhero protecting them all along.
If you would like to help raise money for SLC6A1 research you can donate at : slc6a1connect.org/milestones-for-maxwell
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