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Denver Family Fundraising To Help Toddler Suffering From Rare Disease

DENVER (CBS4) - A family in Denver is working to raise more than $3 million dollars in the next year. It's an effort to change the future for their son and other patients with the same, rare genetic disease.

Doctors told Amber Freed only 34 people in the world have it, but that didn't stop her from finding a way to help her son.

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After years of trying and I.V.F., Amber and Mark Freed welcomed Maxwell and Riley n in March of 2017.

"There are no words to describe how wonderful of a day it was."

Amber and Mark were excited to watch their little ones grow.

"The day we held them nothing else mattered except their wellbeing," said Amber. Then, they started noticing something strange. While Riley was developing, Maxwell was not.

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"He couldn't use his hands," said Amber. "Then started missing every single milestone. He wasn't rolling he wasn't crawling, he wasn't babbling."

After numerous visits, they found a doctor who was able to diagnose Maxwell. He has a disease that is so rare, it doesn't even have a name. It's called SLC6A1 after the gene it effects.

It causes Maxwell to have trouble moving and communicating. It could also lead to epilepsy when Maxwell turns three. Like most rare diseases there is no known treatment.

"For rare diseases often times kids are deemed too rare to care," Amber said.

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Amber Freed (credit: CBS)

Like any good mother, she didn't take no for answer. She quit her job and started calling scientists around the world to find a cure. She finally found hope at the University of Texas Southwestern in Dallas.

A group of scientists there is willing to develop therapy that will help Maxwell and others who suffer from this disease. The only problem, the therapy is so new, it hasn't even been to clinical trials. To get it there so he could participate will cost $4 million.

"We are going full steam ahead. We are fundraising like crazy."

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At 2 years old, time is running out for Maxwell and they still need to raise $3 million, but his mom says she isn't giving up because Maxwell's fight will help many others now and in the future.

"Maxwell is here for a reason and he's going to have a much greater impact than any of us could have ever imagined and I'm just so blessed and honored to be his mother."

So far they have raised $700,000  to dose mice with the treatment to check for toxicity. If that goes well they can move onto clinical trials, but they need to raise the money first.

If you want to help this family fins a cure for this disease visit

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