A family is working to raise over $3 million dollars to change the future not only for their son but also for other people with the same incredibly rare condition.
Amber and Mark Freed welcomed their twins Riley and Maxwell in 2017 after years of trying and IVF. Like other parents, the couple were excited to see their babies grow.
“The day we held them nothing else mattered except their wellbeing,” Amber expressed.
While Riley squirmed and crawled through her first year, Maxwell didn’t. “I would fill out their baby books each month, and Riley had met all of these milestones. Maxwell didn’t reach one,” Amber said. They also noticed that Maxwell never moved his hands.
“He couldn’t use his hands,” Amber shared. “Then started missing every single milestone. He wasn’t rolling he wasn’t crawling, he wasn’t babbling.”
After so many hospital visits, they met a doctor who finally gave the right diagnosis. Maxwell has a condition that is so rare it doesn’t have a name and only called after its affected gene – SLC6A1.
The disease causes Maxwell to have difficulty communicating and moving. It could also result in epilepsy when he turns 3.
“For rare diseases often times kids are deemed too rare to care,” Amber said.
She started calling scientists from all over the globe to find a cure and she finally found light at the University of Texas Southwestern.
Scientists there are willing to develop therapy to treat the disease but the problem is that it will cost $3 million or more.
“We are going full steam ahead. We are fundraising like crazy,” Amber said.
Time is running out for 2-year-old Maxwell and the family still needs to raise funds to test a genetic treatment for their son.
SLC6A1 is one of the thousands of untreatable diseases.
Unless a cure is found, SLC6A1 will condemn the toddler to suffer epileptic seizures that may trigger developmental disabilities. His mother will never give up as their fight will also help others suffering from the disease.
“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,” she said.
To help the family find a cure for the rare genetic disease, visit www.milestonesformaxwell.org.
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