Mom becomes scientific trailblazer for son
4- year- old has rare disorder known by its genetic location
“I’m fighting like that third monkey who’s trying to get on Noah’s ark — and it’s just started to rain.”
Frisco, Texas, mom Amber Freed isn’t the first to invoke that battle cry, but I’ve never met anyone more relentless, more desperate to live every day by its words.
Amber is fighting for the future of her 4- year- old son, Maxwell, who has a debilitating neurological disorder so rare that it’s known only by its genetic location, SLC6A1.
“Maxie Boy,” as his healthy twin sister calls him, and Riley are each other’s best friend. They love pre- kindergarten, Play- Doh and doing the Animal Freeze Dance. Maxwell joyfully chants, “Wiley, Wiley,” one of the few words in his vocabulary, as they share a snack of scrambled eggs before taking my hand to show me their favorite toys.
That’s only on the good days.
In the terrible months of regression, Maxwell’s neurological system catches fire and, day after day, he screams incessantly.
“Nobody can help him,” Amber told me as she described what life was like just a month ago. “At my lowest moment, I’ll lock him in his room, where he is safe, and go into the backyard and bawl until I can’t breathe.”
Then she returns to his room and tries again.
Someday — no expert can say exactly when — Maxwell will go into one of those regressive states for good. “That last limbo state between life and death hasn’t come yet,” Amber said. “We have a chance to help him. Right now.”
Maxwell’s story transcends the tragedy of one family. Even if Amber’s crusade can’t save her son, she holds tight to the hope that it may help others with this same so- called orphan disease.
The Freeds’ journey is also a reminder to all the other parents challenged daily by their children’s rare disease or developmental disability that they aren’t alone.
I hope it also serves as a wake- up call to the rest of us to better understand the struggles of these families, many of whom suffer in silence and feel they don’t have a right to grieve, to feel sad or to get angry.
Amber has never lost touch with that moment in March 2017 when her heart exploded with love as she became the mother of Riley and Maxwell after two years of IVF procedures. She and husband Mark lived in Denver at the time, her working as a financial analyst and him in the energy industry.
Early on, Amber knew something was dreadfully wrong with Maxwell. “I was filling out his baby book each month and looking at what Riley had done — and Maxwell didn’t. He couldn’t.”
He couldn’t roll over. He didn’t reach for things. He couldn’t hold a toy.
“My doctors kept telling me I was crazy, but a mother’s intuition is louder than a freight train,” Amber recalled.
More and more tests were run and, in June 2018, when Maxwell was about 16 months old, Amber and Mark got “the grim voice” call to come to the hospital immediately.
The Denver doctors knew almost nothing about SLC6A1 beyond the fact that the genetic disorder likely would lead to seizures, speech and movement disorders, intellectual disability and, over time, progressive and untreatable epilepsy.
Amber’s first thought was that SLC6A1 sounded like a flight number, not a disease. She started asking questions — lots of them.
Doctors initially tried putting her off with, “This is a really hard time. You aren’t going to get it all at one time.” Her response never changed. “That’s not an answer any of you would accept if this were your child. What do I do?”
Finally she heard the next step: Start calling scientists.
She quit her job the next day — so upset that she couldn’t even speak in her boss’ office and instead typed out her new reality onto her laptop.
Amber next bought the entire Science for Dummies series and hardly slept until she had read them all — Genetics for Dummies, Molecular Biology for Dummies — to give her adequate footing to begin phoning specialists in research and diseases that might intersect with SLC6A1.
“I would call people in Asia all night, people in Europe in early morning and American doctors the rest of the day,” she said.
Over three months of more than 150 calls, Amber heard a common thread. In Maxwell’s genetic disorder, only half of the body’s most important inhibitory neural transmitter was missing. That meant gene replacement therapy was possible — but it would be very difficult and even more expensive.
“But it could be done. That’s what I heard,” Amber said.
That’s what led her in 2018 to UT Southwestern and gene therapy expert Dr. Steve Gray.
UT Southwestern’s work on behalf of children like Maxwell has made it a much- sought- out destination. Along with Children’s Health, it has invested heavily in building a gene therapies program and recruiting medical investigators.
Dr. Gray prepared Amber for what is, at best, a long road. “He told me I would become a scientist myself. I would need to coordinate many universities, fundraise obscene amounts of money and, most importantly, continue to be a good mother.”
How much would she need to raise to support and accelerate the worldwide SLC6A1 work? When she heard the figure of at least $ 4 million, her reaction was, “That’s a lot of money. I better get started tomorrow.”
The Freeds put their own retirement funds into the research then started the SLC6A1 Connect nonprofit, which has provided a virtual community for the growing number of families dealing with this disorder. Over three years, Amber has raised $ 3.1 million — much of it through a GoFundMe but also with the help of deep- pocket donors.
In May, Maxwell’s family moved permanently to Frisco to be closer to the UT Southwestern- Children’s Health team. Amber works not just with these doctors but with scientists at Vanderbilt, Cornell and other universities and labs.
She believes the research will eventually result in a test for SLC6A1 that is part of a newborn screening panel and offer a gene- replacement treatment before babies ever leave the hospital. Her nonprofit also believes the discoveries can potentially help children suffering from autism, epilepsy and psychiatric diseases.
“My son is my first priority, but I also want to forge a path for rare- disease families to come after me,” she said.
As a developmental- disabilities specialist, Dr. Kim Goodspeed understands the complexities facing her families. “It’s a different kind of grief than, say, if your child has cancer,” she said. “They aren’t permanently hospitalized and they aren’t dying. But you have to live with this and it’s super hard.”
Amber Freed’s response is “What can I do about it?”
“I want Maxie to know that I did everything humanly possible to change his outcome.”