Amber Freed has long been a tireless advocate for the rare disease community. After two years of IVF, she became pregnant with her two children: Maxwell and Riley. About four months after her children were born, Amber noticed that Maxwell wasn’t progressing the same way as Riley. Testing eventually found that Maxwell had SLC6A1, an ultra-rare genetic disorder; only 40 people in the world had been diagnosed at that point. Amber launched into action. She founded “Milestones for Maxwell” to raise $4M needed for research into treatments and a cure.
According to an article in CBS Colorado, students at Grandview High School helped contribute to this goal. In 2019, the students raised almost $50K of funding. But the move towards a cure got delayed due to the COVID-19 pandemic. Now Maxwell and four other children – Charlie, Will, Reilly, and Jaxon, who also have SLC6A1 – are considered Grandview High School’s guests of honor. They even visited the school at the beginning of March to hang out with the students at a pep rally!
Students at Grandview are now working to continue their philanthropic efforts – and save Maxwell and other children with SLC6A1 – through a renewed round of fundraising. This year, the students hope to raise at least $15K for Milestones for Maxwell.
If you would like to join them, you may donate to the cause.
What is SLC6A1?
The National Organization for Rare Disorders (NORD) describes SLC6A1, which may also be called SLC6A1 epileptic encephalopathy or SLC6A1-related disorder(s), as:
an autosomal dominant genetic disorder characterized by the loss-of-function of one copy of the human SLC6A1 gene. Clinical manifestation of SLC6A1 epileptic encephalopathy is characterized by early onset seizures (mean onset 3.7 years) and mild to severe intellectual disability.
Although the number of patients has grown over time, there is a lot that we still don’t know about SLC6A1. Symptoms of SLC6A1 may include:
- Impaired language skills
- Mild-to-moderate intellectual disability
- Myoclonic-atonic epilepsy
- Absence seizures
- Grand mal seizures
- Hypotonia (decreased muscle tone)
- Behavioral issues such as aggression or hyperactivity
- Ataxia (impaired coordination)
Currently, there are no specific treatments or cures for SLC6A1. Treatment options are designed to reduce seizures and manage symptoms. These may include anticonvulsants, rescue therapies, vagus nerve stimulation, ketogenic diet adoption, or responsive neurostimulation.