Denver couple running out of time to find cure for son’s rare genetic disorder

Posted at 12:24 PM, Jun 24, 2019
and last updated 2019-06-24 14:24:53-04

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    DENVER. CO (KDVR) — A Denver couple says they’ve found a cure to their son’s incredibly rare genetic disorder, after working alongside a group of renowned scientists.

But they’re still facing a big hurdle in order to get their son the treatment he needs.

Two-year-old Maxwell is one of just 34 people in the world diagnosed with what’s called SLC6A1.

Right now—he is unable to speak, suffers from a movement disorder, and has frequent seizures.

“We know that it causes developmental delays, intellectual disability, a movement disorder—like ALS or Parkinson’s,” said his mother, Amber Freed.

Doctors weren’t able to tell Amber and her husband much more than that, once Maxwell was diagnosed at age one.

“I never expected to be given a diagnosis where nothing was known at all,” said Mark Freed. “It’s every parent’s worst nightmare,” he added.

“The diagnosis was the darkest moment of our lives,” Amber recalled.

She quit her job on the spot, and spent months convincing scientists to help her find a cure.

“I used every creative way to get their attention. I sent them snacks via Uber Eats and daily cookies. I sent them snapshots of Maxwell, and handwritten letters—showing them, ‘this is why it matters. We need you. We have no hope without you.’”

Her tenacity paid off.

“We are working on creating a genetic replacement therapy that will cure every child with this disease,” Amber told FOX31.

It’s a cure that’s proven to be costly, though.

They need to raise one-million dollars just to get the research off the ground, and between four and seven-million dollars to advance the clinical trial.

It’s very hard to wrap your head around that there is a cure within reach and time is running out for your son to be treated—and the only thing hold you back is money.

Once Maxwell turns three, he could begin to suffer irreparable damage to his nervous system.

“Between the ages of three and four, these kids develop a really debilitating form of epilepsy, and decline,” Amber explained.

Which is why the Freed family is desperately fighting to give Maxwell the childhood he deserves, before time runs out.

“I love him so much. I would do anything to help him,” Amber said, with tears in her eyes.

In the meantime, Maxwell is going to 12 different therapy sessions each week.

Amber believes they have helped decrease the number of daily absence seizures, but says her two-year-old still isn’t able to talk.

The Freed family says through research over the last year, scientists believe about 3,500 children are born with this disorder every year—but are being misdiagnosed.

“We have to be believers that we’re going to make this happen,” said Mark. “We feel this tremendous responsibility not only for our son, but for other families.”

If you’d like to learn more about the GoFundMe account, raising money for a cure, click here.

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