Can you briefly introduce yourself, your role at SLC6A1 Connect and what inspired you to take a leadership role with SLC6A1 Connect?

My name is Amber Freed and I am the founder of SLC6A1 Connect, a non-profit dedicated to curing the rare neurodevelopmental condition, SLC6A1. My son, Maxwell, was diagnosed in 2018 and I was given no hope for his future. No mother can accept those words, so I decided to take matters into my own hands and create my miracle.

Can you share a memorable moment or achievement from your time with SLC6A1 Connect that you’re particularly proud of, and why it’s significant to you?

The most enduring moments of this journey are not just events but emotions. Standing at an annual symposium, scanning the crowd, and absorbing the concerned expressions on doctors’ faces, the intellectual curiosity radiating from scientists, and the tears and hope gleaming in parents’ eyes — these moments are etched in my memory. They serve as a source of renewal, reinvigorating me after the challenging days.

In your experience, how has being part of a patient advocacy community like SLC6A1 Connect positively impacted your family’s journey with your child’s rare condition?

Families grappling with rare diseases often find themselves on a lonely and isolated journey, diverging from the trajectory they envisioned when starting their family. In an instant, dreams take an unexpected turn. Advocacy emerges as the beacon of empowerment for these families, transforming them into active participants in the pursuit of treatment solutions. By championing the cause, they strive for a better life for themselves and become catalysts for positive change in the lives of others.

Could you provide some insights into the challenges you’ve encountered while advocating for your child and the rare disease community? How have you overcome them, and what lessons have you learned along the way?

Advocacy is a relentless test of grit and perseverance. It doesn’t follow a set roadmap but thrives on unyielding passion. In the face of setbacks, an advocacy organization quickly learns to rebound, awakening each day with heightened passion. The journey isn’t linear, and strength lies in adaptation, as we challenge and redefine traditional healthcare models.

What resources or support networks have you found most helpful in your role as both a parent of a child with a rare genetic disorder and a member of a patient advocacy community? Are there any specific tools or strategies that you’d recommend to others in a similar situation (e.g., creating a podcast to share their story)?

For families confronting similar situations, my advice is to share your experiences. Our stories carry profound power, providing a platform to offer support and assist others facing identical challenges. Each formation of a patient organization builds upon past models, contributing to the upliftment of the community. Begin sharing at a pace that feels comfortable for you, and lead with your heart. Every journey is unique, showcasing individual talents, and making a positive impact in its own way.

When organizing patient advocacy and research conferences, what have you learned through this process?

The cornerstone of patient advocacy and research conferences lies in collaboration. Coordinating with fellow patient organizations to share valuable resources, such as scientists, doctors, volunteers, booths, and costs, has proven to be essential. This collaborative effort not only optimizes efficiency, but also fosters a unique understanding among patient organizations, allowing them to share viewpoints and navigate shared frustrations together.

How have collaborations with scientists and research programs complemented SLC6A1 Connect’s community-building and family support efforts?

SLC6A1 Connect sees itself as the vital link that binds patients, doctors, scientists, and industry leaders together to propel forward solutions for SLC6A1. Our vision is to advance multiple treatment options for SLC6A1, ensuring that families facing a diagnosis have a range of choices. We actively engage and educate the scientific and clinical community, directing their focus towards the characteristics of the disease that impact our families the most. By doing so, we aim to shape effective clinical trial endpoints. As a non-profit, our responsibility is to provide education, empowering families to make informed decisions tailored to their unique situations.

Looking ahead, what do you hope to achieve in the coming years for the SLC6A1 community and the individuals you serve?

SLC6A1 Connect operates as a flywheel of innovation, drawing equal strength from scientists, doctors, industry partners, and patients to develop sustainable and accessible treatments. The effectiveness of our organization is a direct reflection of the collective dedication of our people. We actively encourage those interested to engage with their respective patient organizations, recognizing the power of collaboration in driving meaningful change.

Are there any upcoming projects, initiatives, or goals that you’re particularly excited about and would like to share?

We wake up every day dreaming about the moment when our community receives translational therapies that target the actual genetic cause of disease.

Anything else you would like to share?

My hope is that a newly diagnosed family reading this post realizes that they have the opportunity to make a meaningful impact. While no one would willingly choose to join this community, it is one characterized by kindness, acceptance, and love.

Additional resources:

• www.slc6a1connect.org