Fighting like a mother: UM neuroscience seeks the cure for the young boy

Amber Freed and her son, Maxwell.
Amber Freed and her son, Maxwell. (Courtesy of Amber Freed)

By Erika Fredrickson, UM news service

MISSULA – Amber Freed was like any mother looking for answers. Her twins—born in 2017—were still babies when she and her husband noticed that Maxwell wasn’t progressing at the same pace as her sister, Riley. Doctors tried to reassure the family, but Freed knew something was wrong. Soon the doctors did too.

“I noticed the doctor’s tone changed from ‘You’re just a crazy new mom’ to one of panic,” Freed said.

After some medical testing, the Freeds learned that Maxwell has a genetic mutation that causes a spectrum of neurodevelopmental disorders that can include epilepsy, developmental delays, movement disorders, and characteristics of autism. This genetic mutation was so rare that it is known only as SLC6A1, named after the location of the affected gene.

While SLC6A1 is now listed in the top 10 genetic variants associated with autism or epilepsy, there were only 30 children in the world with the SLC6A1 diagnosis at the time. Doctors told the Freeds to watch and wait. Social Services told them, “Go home and give him the best life you can.”

But Amber Freed was fiercely determined to find a cure. The day Maxwell was diagnosed, she quit her career in stock analysis and bought books on molecular biology, genetics, and neuroscience. She has contacted scientists working on similar genetic mutations. She has traced other families affected by the SLC6A1 diagnosis. You contacted the politicians. She realized that as a mother with a business degree and the ability to quit her job, she was in the unique position to advocate—not just for Maxwell, but for other children as well.

“I was going to fight like a mother to my son,” she said. “I was going to do everything in my power to give him a chance in the life he was meant to be and not let this disease get to him. So I’ve dedicated my life to forming a treat for him and every other kid with it.

Freed, originally from Billings, he soon learned that research funding for Maxwell’s disease is extremely limited. In 2018, she founded SLC6A1 Connect, a patient-led organization that has made great strides in research on the disorder. The organization supports families, provides education and resources, hosts conferences, and serves as a community center. Freed and her team have raised millions of dollars to support research across the country, turning curious doctors into SLC6A1 specialists along the way.

Amber Freed visits neuroscience professor Mike Kavanaugh.
Amber Freed visits neuroscience professor Mike Kavanaugh of the University of Montana. (Courtesy of Amber Freed)

Freed’s persistence also led her to seek out Dr. Mike Kavanaugh, a professor of neuroscience in the University of Montana’s Division of Biological Sciences. Kavanaugh has studied the functions of the SLC6 gene family in the brain for more than two decades. He has worked with pharmaceutical companies and organizations, including the n-Lorem Foundation, a nonprofit dedicated to treating patients like Maxwell by developing new RNA-targeted therapies for genetic diseases.

Kavanaugh and his UM students conducted experiments that defined the effect of Maxwell’s mutation and determined that he was a good candidate for a type of gene therapy known as antisense oligonucleotide therapy (ASO). Their work has led to the development of promising new ASO therapies for Maxwell that are now undergoing further testing.

Meanwhile, ongoing research continues with the UM group discovering an alternative class of drugs that they hope will lead to a more widely available treatment for the expanding group of children diagnosed with SLC6A1 mutations.

Private support for UM’s neuroscience program is essential to advancing Kavanaugh’s cutting-edge research. Gene therapy and drug development research cost millions of dollars to develop baseline and clinical trials, which take years. The cost is also high for patients and is usually not covered by insurance. Overall costs are expected to decrease as scientific discoveries progress.

SLC6A1 Connect has become a key philanthropic partner to UM’s neuroscience program through significant research and financial contributions. The organization’s continued support will augment Kavanaugh’s critical efforts, attract talent to discover innovative solutions, and provide exciting opportunities for students in a variety of life science majors, positioning UM as a leading institution in gene therapy.

“Amber Freed is a force of nature,” Kavanaugh said. “Her contributions to the search for a cure for her child and other families affected by SLC6A1 are inspiring.”

The philanthropy ensures that Kavanaugh and other UM neuroscience researchers can continue to contribute to the development of innovative treatments for a broad range of genetic disorders associated with neurological conditions. With private support ongoing, this work will benefit more people around the world who are affected by many genetic disorders similar to SLC6A1, including epilepsy, autism, Parkinson’s disease, Alzheimer’s disease and more.

Last year, the SLC6A1 Connect recognized Kavanaugh’s efforts with the Scientific Hero of the Year award.

“All SLC families love the ground Dr. Kavanaugh walks on for his commitment to helping our children,” Freed said. “In our darkest hour, we took refuge in knowing how much he cares personally and how much that equates to professional enthusiasm. And now it’s putting Montana on the map as a hub in precision medicine for neurology.

To support the Kavanaugh lab and neuroscience program, email Dan Minor, senior director of development at the UM College of Humanities and Sciences, at dan.minor@supportum.org or call 406-243-2646.

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Contact: Elizabeth Willy, director of communications, UM Foundation, 406-243-5320, elizabeth.willy@supportum.org.

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