Rare Disease Day 2025: Transforming Challenges Into Action for SLC6A1

Amber Freed

Rare Disease Day is an international awareness campaign observed annually on the last day of February, designed to shine a spotlight on the challenges faced by individuals living with rare diseases and to advocate for equitable access to diagnosis, research, and treatment. It was first launched in 2008 by the European Organization for Rare Diseases (EURORDIS) and has since gained global participation, involving patient advocacy groups, healthcare providers, researchers, policymakers, and the general public.

A disease is considered rare when it affects fewer than 1 in 2000 people, and there are more than 7000 known rare diseases, collectively impacting over 300 million people worldwide. SLC6A1-related neurodevelopmental disorder, also known as SLC6A1 Deficiency Disorder, is a rare disease characterized by mild-to-moderate developmental delay and/or intellectual disability, hypotonia, epilepsy, movement disorders, and neurobehavioral and/or psychiatric manifestations. As of 2020, fewer than 500 patients had been reported worldwide, with an estimated incidence of 2.65 in 100,000 births.

In 2018, Amber Freed founded SLC6A1 Connect, an advocacy organization dedicated to raising awareness, advancing research, and supporting families affected by SLC6A1-related disorders. Freed, whose son was diagnosed with the condition, sat down with NeurologyLive® to shed light on the daily struggles faced by families, from disrupted routines to the challenges of caregiving and finding informed clinicians. Highlighting the importance of Rare Disease Day, she emphasized the urgent need for funding and awareness to advance gene therapy research, particularly her collaboration with the Steve Gray Lab to develop a potential cure. Overall, she advocates for precision medicine as the future of treatment for rare diseases and called for greater activism within the community to accelerate progress.

NeurologyLive: What are some of the lesser-known aspects of SLC6A1 disease?

Amber Freed: I founded SLC6A1 Connect when my son Maxwell was diagnosed with the genetic variant SLC6A1. It’s a rare genetic epilepsy, and along with seizures come a lot of behavioral deficits, a movement disorder, speech apraxia, and intellectual disability. He just struggles. I think one thing people don’t really understand about the disorder is that there’s so much more than just epilepsy. It’s everyday tasks. It’s trying to teach someone whose brain is “on fire” and having an incredibly hard time trying to learn.

How close is the SLC6A1 community?

SLC6A1 is a gene that codes for GAT1, which controls the body’s most important neuroinhibitory transmitter. If your brain is not inhibited, that’s bad—you can just imagine trying to get through your day like that. Rare Disease Day helps bring awareness to just how important these conditions are and what the daily struggles look like. Our community has a huge unmet need. The term autism is very broadly used, but when you narrow it down to the symptoms, it highlights what a typical day is like. Our poor kids have a really hard time sleeping—they don’t understand the difference between day and night. It’s really hard for them to be awake during the day, and meal times are all messed up. That’s not going to change because of this genetic abnormality. As you can imagine, that leads to a very tough family life. Siblings want to have sports and school activities, but it’s hard when it typically takes the full-time attention of two parents to care for just one child.

Are there any SLC6A1-related research or initiatives that need greater attention or focus?

When Maxwell was diagnosed, we figured out he’s missing half of a pretty important gene. The most eloquent solution is to just replace what’s missing, and the technology exists today to do that. The only thing holding us back is money. Since his diagnosis in 2018, we’ve had a laser focus on achieving that. We’re working with the Steve Gray lab at UT Southwestern, and we’ve raised $6 million philanthropically to get to that goal. Now, this Rare Disease Day, we’re announcing the next step: toxicology. Our next fundraising goal is $750,000 to get through the final toxicology studies and then actually start treating humans. That will be the closest thing to a cure our kids will see in our lifetime.

It’s super expensive for us, but like with any technology, it starts big and costly, like old cell phones, and eventually becomes smaller, more accessible, and affordable. The work we’re doing today is going to help so many people in the future.

Are there ways we can help patients with their intellectual disabilities?

Intellectual disability and behavior are really tough. For kids with rare genetic epilepsies, it’s hard to know what their intellect truly is because they’re trapped in their bodies. We all know there’s so much more going on inside than what we see on the outside. But a lot of times, they’re nonverbal or can’t express themselves. I believe the future for epilepsy and rare diseases lies in personalized, precision medicine, just like how cancer treatment has evolved.

You’re no longer diagnosed with just “breast cancer.” It’s a specific variant, and your doctor designs a treatment just for you. There’s no reason we can’t do the same for epilepsy and neurological conditions. The earlier we treat people with a precision approach, the better. It keeps them from carrying these challenges into adulthood. Parents live with this dark fear—what happens to my child when I die? Who will take care of them? There’s no place for them in society, and they need full-time caretakers. That’s such a sad life for them. Let’s fix it from the beginning. Let’s replace what’s missing so they can go on to be the best versions of themselves.

How difficult is it to find a clinician who’s versed in SLC6A1 disease?

It’s very difficult to find a doctor who fully understands SLC6A1. It’s taken a lot of, for lack of a better term, “dating” to find doctors who are passionate about research, inspired by the rare disease community, and who truly understand the unmet need. I coach patients to feel empowered to educate their doctors about the disease. Take in a one-pager that explains what it’s like. Don’t hold back. Don’t sugarcoat things—you’ve got 15 to 30 minutes of their time, so make it count.

This Rare Disease Day, I want to encourage patients, doctors, and scientists to be activists. Think about where we were in the ‘80s and ‘90s with HIV/AIDS or with cancers in the early 2000s—that’s where we are with rare diseases now. For the first time, we’re able to identify not just a gene diagnosis but a potential cure. It’s going to take more awareness, more action, more walks, and more outreach to our senators and congresspeople. We need to educate them on why this matters. We have a chance to change the future of medicine today, so let’s take it. We’re never going to solve complex diseases like Alzheimer’s if we can’t knock out these simpler diseases first.