A Mother’s Determination and a High School Senior’s Compassion to Pave the Way for a Cure
By Monica Wallis
What would you do if your child was diagnosed with a disease so rare it didn’t even have a name? This is the situation Frisco resident Amber Freed found herself in in 2018.
Amber initially felt something was off when her kiddo, Maxwell (a now seven-year-old student at FISD), wasn’t developing like his twin sister, Riley, was. “He had some strange habits and movements, and he was jerky. I would take a daily journal of their accomplishments, and I would write things down that Riley did that Maxwell didn’t. And I would go to the doctor, and they would say, ‘Amber, don’t compare twins. You’re a nervous new mother, and you’re hypervigilant, and boys develop slower than girls.’ All those things are true, but a mother’s gut is always right,” she said.
Thinking something was wrong with his eyes, she took Maxwell to an ophthalmologist. The visit made things clearer yet incredibly cloudy at the same time. Maxwell’s eyes were fine, but his brain was not. “I can tell you your baby can see, but I don’t think he’s going to live,” were the exact words. Then came the genetic testing.
“They told me my baby has SLC6A1,” Amber said. “I was braced for a Mike Tyson punch, but I was so confused. I asked what it meant, and they didn’t even know because only 30 people in the world at the time had the disease. There was only one article online, and the patients studied weren’t followed into adulthood, so nobody knew if any lived past five. My world began crumbling.”
SLC6A1 is a rare neurological disease that leaves children afflicted with seizures, motor impairments, developmental delays, and more. “SLC6A1” is the name of the genetic location. It’s caused by a change (mutation) in one copy of the SLC6A1 gene that prevents the gene from working properly. Symptoms can come on suddenly without warning. Between ages three and four, most kids develop a debilitating form of epilepsy. Sadly, only the lucky ones will get to celebrate their fifth birthday.
Amber wouldn’t have Maxwell defined by a limited lifespan: “The biggest takeaway from the conversation was they didn’t know anything. The conversation transitioned to social services…sign up for these services, this and that. I’m holding my baby… don’t write him off. Don’t minimize his life.” She felt it was a blessing nothing had been done yet, giving her the chance to do it right.
So, she fought like a mother. She began cold calling scientists and doctors around the world, reading all there was to know on rare diseases (including Biology For Dummies, Bioinformatics For Dummies, and Microbiology For Dummies), and eventually forming SLC6A1 Connect, her organization working to cure the deadly and incredibly rare disease by raising awareness, funding research and medicinal trials, and supporting affected families.
With so much to learn at her fingertips, Amber remembered, “I just had to fake it until I made it. But it’s one thing if you’re faking it in a job interview, and then you get the job. When it’s your kid’s life, you’re like, ‘I’m fine. If I embarrass myself, it’s myself. I actually could care less what happens to me. He just needs to be okay.’”
A Powerful Partnership Formed
“People like Nora renew my faith in humanity every single day,” Amber said with a smile. “Then I met her family. And they are just the type of people you meet once in a lifetime. She was raised by the most tremendous mother and father, and she is the type of person that is going to make an impact in this world bigger than anybody.”
The Nora she’s referring to is Nora Ferriss, an aspiring doctor and senior at Frisco ISD’s Centennial High School. Amber reached out to Nora on LinkedIn, as she needed volunteers for SLC6A1 Connect. Nora, being the compassionate and driven person she is, jumped at the opportunity, quickly forming a partnership between SLC6A1 Connect and the Junior Frisco Women’s League (Junior FWL), where she’s a board member.
That one LinkedIn message sparked lemonade stands all across Frisco. The goal? Raising awareness and funding for SLC6A1. “I told Nora how we’re having lemons turned into lemonade stands, and she just took the idea and ran with it, mentioning that we should reach out to all of these organizations. And she had by the end of the night!” Amber said.
Their first lemonade stand with Nora’s National Honor Society chapter took place September 14 on the east side of Frisco. The stand in partnership with Junior FWL took place on September 21, with more scheduled. “It’s not so much about serving lemonade as it is about raising awareness,” Corinn Ferriss (Nora’s mom) said.
“We’re going to have a lot of information. We have a bracelet-making event planned; the bracelets will say “rare” to raise awareness about rare diseases, which is what we’re advocating for. It’s an instance where you never know who you’re going to meet. Amber’s already raised an impressive amount, but there’s still a long way to go.”
Amber and SLC6A1 Connect have been on a tireless mission to raise the $7 million required to fund a phase one gene therapy trial, which is just the beginning of a longer, more expensive process to ultimately secure FDA approval. Since Maxwell’s diagnosis, her organization has raised over $5 million, thanks in part to significant national media attention, including a People Magazine article. Amber explained how LinkedIn, friends, and family played key roles in spreading awareness, allowing them to transcend smaller fundraising platforms like GoFundMe.
Wise Beyond Her Years
Corinn Ferriss described her daughter as someone who’s always had a heart for service. “Nora’s always been what I’d call a mother hen, and she’s always been very protective over her little sister. She’s the oldest cousin on my husband’s side. She always liked to take care of the babies she worked with in the church nursery. She’s always been a structured, dedicated person with lofty goals. I think her personality really fits with medicine because it’s going to be a long journey.”
Volunteering has always been instilled in Nora. Corinn and her husband, Jared Ferriss, were high school sweethearts, and having both attended a Catholic high school, giving back to the community was ingrained in them early on. “Living in a community means giving to that community, not just taking from it. Over the years, our girls have become naturals at volunteering. They’ve joined us in community outreach projects from a young age, especially in lower socioeconomic neighborhoods, where we often hosted events like barbecues and helped families during the holidays. Adopting a family for Christmas or Thanksgiving was something we did a lot when they were in grade school. It’s been incredibly rewarding to see them carry those values into young adulthood, finding their own ways to give back,” Corinn shared.
The Ferriss family’s connection with Amber has added another layer of meaning to service. “Amber is an incredibly busy mom of two young children. Helping take small tasks off her plate has been such a rewarding experience,” Nora said, with her mom adding, “Amber’s really connected with Nora, and it is so sweet because I feel like she’s the one in need right now. She’s just turned around and has been so giving toward Nora. It is just a wonderful exchange. It’s like they’re both trying to benefit each other and it’s really special to see. I feel blessed to know there are other adults speaking into my kids’ lives besides me.”
Amber joked about Nora: “On her bio for the SLC6A1 Connect website, she put ‘High School Student.’ I took that out and changed it to ‘she’s an inspiring doctor’ because saying high school student does her no justice. She’s so much further along than the rest of humanity.”
And Nora’s contributions haven’t stopped at lemonade. She recently accompanied Amber on a visit to the University of Alabama at Birmingham to study how FDA-approved drugs created for SLC6A1 were treated on zebrafish. The fish are DNA replicants of human patients. Mice are also being studied here at UT Southwestern, where Nora will soon join Amber every week to observe the research. (The Freed family moved from Denver to Frisco in 2021 to be close to the research Amber’s helped initiate at UT Southwestern.)
Maxwell is currently on a drug specifically discovered to help children with SLC6A1, but the most promising treatment on the horizon is gene therapy. This one-time treatment replaces the missing SLC6A1 gene in the body. Delivered through a harmless virus, referred to as a “smart virus,” the therapy works by traveling to the brain and targeting cells that are missing the gene, stacking working copies on top. Amber explained further, “The analogy is if you had a clogged pipe, it would unclog the pipe.”
Though Maxwell is now seven, meaning the treatment may not be as effective as if given to a newborn, there is hope due to the brain’s neuroplasticity. With the ongoing love, care, and rehabilitation he receives, it’s impossible to predict the full extent of what Maxwell can achieve. Early treatment is always best, but his mom remains optimistic about the opportunities ahead.
Relationship and Mentorship
In addition to her work with SLC6A1 Connect, Nora maintains a mentor-mentee relationship with Shona Sowell, Director of Community Relations at Texas Health Frisco. Their meeting came from an unexpected situation. Shona first met Nora during a tragic incident on New Year’s Day, where a man had a stroke and crashed his car in front of their neighborhood. In the midst of the chaos, Shona saw Nora calmly take charge of caring for the man’s young children, keeping them entertained and distracted.
This experience left a lasting impression on Shona, who admired Nora’s composure and compassion in a highly stressful situation. “I was so impressed with how calmly she supported and helped,” Shona recalled, and it was this moment that sparked the beginning of their mentorship.
Since then, Shona has taken on a facilitator role in Nora’s journey, connecting her with various hospital professionals to explore her healthcare interests. Although Shona is non-clinical, she’s provided guidance on healthcare’s business and cultural side while encouraging Nora to pursue her own path.
“It’s not about teaching her to be like me,” Shona explained, “It’s about opening doors and helping her discover what interests her.” Over time, Shona has seen Nora’s confidence grow, especially in her ability to reach out to others and pursue opportunities independently. Describing Nora as bright, compassionate, and hard-working, Shona believes these qualities will make her an excellent candidate for a career in medicine. “Shona’s been a great connection and selfless person,” Nora said. “If she said she had something boring to do, she’d drop me off with someone else and make sure I was fully immersed in the hospital field. She’s really taught me how to be a better person and put others before yourself.”
Nora also volunteers at Baylor Scott & White Health in Plano every week (what doesn’t she do?), a year-long commitment that involves partnering with multiple departments to complete essential tasks and observe various treatments. She assists with patient transport, provides comfort, maintains sterile work areas, and participates in pet therapy and hospitality. Additionally, Nora conducts patient rounds, welcomes new arrivals, and explains details like how to use the TV remote, ensuring a smooth and caring experience for each person.
So, What’s Next?
When reflecting on the road she’s traveled thus far, Amber’s gained new perspectives. “You hear the first cries of your baby and you don’t even understand there’s that much love in this world. It changes you as a person and you realize that your life is not your own. You belong to your kids. Whatever mattered before pales in comparison.” Amber hopes that one day, the disease will be included in newborn screening panels, allowing children to be tested and treated before they even leave the hospital. “The thought of another family not going through the suffering that ours did makes everything worth it,” she added.
As for 17-year-old Nora, she’s currently applying to colleges with the goal of attending medical school one day. She’s particularly interested in neuroscience, anesthesiology, or radiology—her top three choices for the past few years. Since working closely with Amber, her interest in neuroscience has deepened.
Want to help Maxwell and other kiddos with SLC6A1? Information on future lemonade stands will be posted on the SLC6A1 Connect Instagram, @slc6a1_connect. You can also learn more and donate to the cause at slc6a1connect.org and gofundme.com/f/slc6a1-connect.
Monica Wallis is an award-winning writer, witty headline fan, and founder of Copy That, full-service copywriting for brands in destination, food, beverage and beyond. A Frisco resident since 2018, she loves popping into all the coffee shops and restaurants Sports City USA has to offer—not to mention chasing its incredible sunsets, too. Follow along with Monica on Instagram @copythat_creative!
