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Shortly after he was born on March 27, 2017, Maxwell Freed’s parents noticed something strange with their son. “He wouldn’t use his hands. Not once. Not for anything,” Maxwell’s mother, Amber, says. “He would look at his finger. That was it.”
His twin sister, Riley, was an active baby. She grabbed rattles and squeezed fingers, but her brother wasn’t developing at nearly the same pace. “I had a natural benchmark,” Amber says, from which she established her son needed immediate help.
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The problem, though, was that no one knew what was wrong with Maxwell, much less how to help him. Spring turned to summer, summer to fall, and still the family was grasping for any kind of clarity. In February 2018, a scary call finally came from Cherry Creek Pediatrics late in the afternoon. Maxwell’s pediatrician, Jasper Hillhouse, told Amber she and her husband needed to come in immediately. There was still no diagnosis, but doctors had determined that Maxwell was suffering from something serious and he would need to undergo genetic testing.
“We were just in hell,” Amber remembers. “Total hell.”
The Freed family spent three months knowing Maxwell was extremely sick—and declining—but with no way to help him. Those were, Amber says, some of the darkest days of her life.
Then, in May 2018, Austin Larson, a pediatric geneticist at Children’s Hospital Colorado finally made a diagnosis. Maxwell was suffering from SLC6A1: A cruel disease that was attacking his central nervous system, slowing his intellectual and physical development, and if not stopped, would ultimately result in crippling epilepsy.
At the time, Amber was flummoxed by the diagnosis. “SLC6A1? I don’t understand. What is that?” She recalls asking. “That sounds like a flight to Salt Lake City.”
SLC6A1 is a woefully underdiagnosed condition with an equivalent lack of research. At the time of Maxwell’s diagnosis, the only literature on the disease was a five-page article written by scientists in Denmark.
As soon as she learned of her son’s condition, Amber quit her job as an investment analyst and “declared war” on the disease.
First, she called the researchers in Denmark. They put her in touch with experts in various parts of the world, so she called those scientists, too. Over a three-month period, she spoke to about 140 scientists on nearly every continent. “My nights were reserved for Asia and Australia,” Amber says. “My early mornings were Europe. My days were for people in the U.S.”
She determined that Maxwell needs gene replacement therapy—which in simplest terms involves replacing a faulty gene with a new gene that gives the body instructions for creating a particular protein.
“His neurological system is basically on fire,” Amber says. “He’s severely delayed. No speech. He screams a lot. You can tell he is in physical discomfort.”
Ultimately, she discovered Steven Gray, a scientist at the University of Texas. Gray runs a pioneering gene therapy center and is one of the few practitioners in the country capable of implementing gene-editing treatment on children. But when she contacted Gray, he told her he didn’t have the capacity to help Maxwell. Undeterred, she pestered him—she even flew across the country to surprise him in person—until he finally agreed to work with her on Maxwell’s case.
Gray told her they were facing two proverbial constraints: time and money.
The longer Maxwell lives with SLC6A1, the worse his symptoms will become. Gray estimated that if Maxwell doesn’t have gene replacement therapy before he’s between the ages of 3 and 4, he’ll be ravaged by seizures and his development will be further stunted.
“It’s a critical period of development early in life, developing your motor skills and your communication skills,” Larson says. “You want to be able to intervene as early as possible in order to improve the developmental trajectory.”
Moreover, the cost of gene replacement therapy is prohibitively high. Maxwell’s procedure will total at least $1 million, and—given the amount of research and clinical work that must be completed first—that’s relatively inexpensive, Larson says.
If Maxwell has a chance to beat this disease and live a normal life, Amber says he needs to have gene replacement therapy in December 2019—leaving the family less than a year to raise the money.
Amber, naturally, is doing everything in her power to meet that goal. She founded a nonprofit organization, Milestones for Maxwell, and set up a Go Fund Me page—which has already raised about $150,000. The Denver community is also rallying to the family’s cause. On March 8, Thrive Mortgage and Legend Title are hosting a private benefit event for the family and an anonymous donor has pledged a matching gift up to $100,000.
If Amber and her family are able to research and fund the operation, the impact will extend far beyond Maxwell’s case. “Hopefully,” Larson says, “Amber will be able to push things forward such that there is a specific treatment for [Maxwell’s] condition.”
For now, though, Amber’s focus is getting Maxwell the care he needs, bringing life to the little hands that he has never been able to use.
“You’re able to do things for your kids that you can’t do for yourself,” she says. “And I’ll do anything.”