Amber N. Freed is Fighting Like a Mother to cure SLC6A1.
Amber Freed is the single mother of adorable twins, Miss Riley James and Mr. Maxwell Norman. Maxwell was 18 months old when the Freed family received his devastating diagnosis of SLC6A1. Ms. Freed left her career in equity analysis the day Maxwell was diagnosed and dedicated her life to finding a cure. In 18 months, Amber has single-handedly driven multiple translational treatments forward and become a leader within the rare disease community.
Ms. Freed serves as the Founder and CEO of SLC6A1 Connect. SLC6A1 Connect’s work has elevated awareness and created an ecosystem that can systematically help fund and consolidate research and treatment efforts. Her efforts have been highlighted in the Huffington Post, Buzzfeed, Bloomberg, CNBC and many more.
Ms. Freed was featured in the best-selling book, Shortcut to Prosperity, as an example of grit well before her skills were put to the ultimate test. Prior to Founding SLC6A1 Connect, Ms. Freed served in a variety of equity and financial analysis roles, most recently in consumer equity research with Janus Henderson Investors. Prior to Janus, Ms. Freed was a Vice President with Stout, Risius & Ross in Houston, Texas, focusing on private company and personal valuations. Ms. Freed has also served in roles with RK Capital Management, Dividend Capital Trust, and KPMG LLP. Ms. Freed attended the University of Denver for both undergraduate and graduate school, receiving degrees in Accounting on an academic scholarship.
She was nominated for the Global Genes Rare Champion of Hope Award, is a member of the Rare Advocacy Movement and sits on the Board of CombinedBrain. Amber can be reached at any hour of the day to advance science.
A Letter from the Founder
Contemplate the devastating grip of rare afflictions such as ALS, muscular dystrophy, and epilepsy. Now, envision a world emancipated from their malevolent sway. With nearly 6,000 rare diseases casting shadows, my fervent aspiration is to conjure a reality in which they are banished from existence.
I deliberately postponed the commencement of my journey into motherhood until my mid-30s, ensuring my firm establishment in the realm of equity research. This conscious choice allowed me to savor the bliss of motherhood to the fullest. My twin progenies, the illustrious Mr. Maxwell Norman and the incomparable Ms. Riley James, graced our lives in the spring of 2017. The day they returned home from the hospital, I believed life to be flawless. They were, and remain to this day, quintessentially perfect in every aspect, while the realm of motherhood has transcended all preconceived expectations.
When Maxwell reached his fourth month, a disquieting discrepancy emerged in his development compared to Riley’s. Well-intentioned counsel from friends and family tried to allay my anxieties, attributing the variance to the natural progression pace of infants. But my instincts vehemently contradicted these reassurances. Maxwell remained resolute in his refusal to employ his tiny hands, despite the absence of any discernible physical limitations. He lacked the ability to bear his own weight, reach for objects, or even grasp a simple toy. The medical community initiated us into the somber journey known as the “diagnostic odyssey.” In early May of 2018, my husband and I found ourselves within the soothing confines of the parent room at Children’s Hospital. The grim expressions on the doctors’ faces heralded the diagnosis: Maxwell was afflicted with SLC6A1, an exceedingly rare genetic disorder that afflicts a mere 40 individuals worldwide. This disorder bears not even an official name beyond the moniker of the responsible gene. SLC6A1 precipitates developmental delays, intellectual disabilities, autism, and a harrowing form of epilepsy. In the disheartening moment of that revelation, physicians painted a bleak picture, asserting that nothing could be done. While surrendering to despair may have been the easiest course of action, we chose a different path. I relinquished my career to dedicate my life to the relentless pursuit of enhancing patient outcomes. I have not glanced back since.
Maxwell’s genetic anomaly fractures his gene, rendering half of it inert and obstructing the flow of the body’s most critical inhibitory neurotransmitter within the brain. The solution, in theory, appears straightforward: mend the gene. For decades, hordes of scientists, clinicians, and researchers have labored tirelessly in pursuit of this elusive remedy. Fortuitously for Maxwell, the moment to harness this technology has arrived. Analogous to how Napster revolutionized the music industry, gene therapy is currently reshaping the landscape of medicine. The conventional medical model was predicated on recurring pharmaceutical sales, whereas gene therapy offers a “one-time and all-encompassing” solution. What does this groundbreaking therapy signify for our family? It holds the potential to bestow Maxwell with a fully functional neurological system, endowing him with respite from the shackles of epilepsy and gifting him the prospect of a life that was hitherto deemed improbable. Someday, these trials shall be consigned to a distant memory.
As with any nascent technology, the present-day costs appear exorbitant, yet they shall inevitably diminish as automation proliferates. However, Maxwell is not afforded the luxury of time, and thus, the imperative to secure the necessary resources is paramount. I extend to you a cordial invitation to join our organization, to be touched by our narratives, and to join us in the pursuit of our goal.
Amber Freed
CEO & Founder of SLC6A1 Connect