Denver toddler one step closer to receiving life-changing treatment for rare disease

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DENVER — The Freed family has a lot to celebrate. Not only has the community helped them raise enough money to pursue a treatment for their son, but the drug that may help him is being tested in mice.

They first shared their story with Fox31 in June.

Their son, 2-year-old Maxwell, was diagnosed with a disease so rare, it doesn’t have a name yet.

The Freed family worked with renowned scientists to develop a cure, but didn’t have the funding to begin testing.

That changed once the story aired.

“It reached worldwide,” Amber Freed told Fox31 on Monday.

“I received at least 500 e-mails of encouragement and well wishes, and happy thoughts for Maxwell.  Donations have flowed in,” she said.

They secured enough funding to move into the testing phase—just over $700,000.

Freed got the big news last week.

“I was at Children’s Hospital of Colorado with Maxwell, when a text message popped up that mice were being treated with the drug we developed,” she said, crying.  “And I was so excited.”

So was Maxwell.

Freed posted a video of him, right after she and her husband broke the news to him.

“We decided to formally explain to Maxwell what happened that day and we has so excited," she said. "It’s like he really knew what was happening.”

It’s the first crucial step in turning the gene therapy into an actual treatment, ahead of Maxwell’s 3rd birthday next March.

“Between the ages of 3-4 he will develop a debilitating seizure condition, and he will lose all the skills he has fought so hard to gain,” Freed said.

There’s still a lot of fundraising to be done.

They’ll need an additional $3-6 million to get the drug tested on humans and manufactured.

“It’s hard," Freed said. "As a parent, you want to be very hopeful, but there’s always the fear that’s it’s not going to happen.”

But for the first time, Freed says she feels the tight timeline for her son is possible.

“We’re making progress, and maybe we’re closer to the end than the beginning of what’s been a horrible nightmare for our family.”

Here’s the best potential timeline for testing:

  • Results for testing the drug on mice will come back in roughly two months
  • They would go before the FDA and request an expedited review of the drug, in Fall 2019
  • Testing on humans would start in early 2020
  • The drug would be ready by the end of February, or early March of 2020

The family has started a GoFundMe to raise money for the treatment of the disease.

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