“In 2018 our wonderful, happy little boy Arthur was diagnosed with SLC6A1, a rare debilitating neurological condition that currently has no cure. It would change the course of his life forever. Arthur suffered from hundreds of seizures a day. These seizures were subtle absences and frequent blinking called ‘eye myoclonis’. He would fall frequently during these episodes and from the hypotonia (muscle weakness) he suffers from as part of this disease. Arthur has learning disability and at 4 years old, he is significantly delayed for his age, is unable to speak in sentences, has sensory processing issues, and is showing signs of autism. As a newly discovered disease, his future and the devastating effects of this disease are unknown. At the time of his diagnosis there were just 30 families in the world diagnosed with this condition and very little was known about it. We were put in touch with these families, and from there support and patient advocacy developed. SLC6A1connect.org was created by Amber Freed, mother to twin Maxwell Freed who suffers from the disease and is based in Denver, USA. Amber is a Rockstar and has fully committed to advocating for our children, and finding a cure”.
“As parents we wanted to join the fight, for our son, and all of the children and young adults suffering from this horrible disease. Research into curing this disease is underway in the US using funds already raised by the affected families, millions more is needed to get it from bench to bedside. Money raised through Arthur’s Quest will directly support this research and affected families”.
“Together we can cure these children”.
Lindsay Dilley & Daniel Randall
Arthur’s Quest is a patient advocacy group dedicated to improving the lives of children and families affected by SLC6A1.
Our focus is to raise awareness and fundraising to advance scientific research that will ultimately result in a cure. We will continue to work closely with slc6a1connect on this mission.
Arthur’s Quest is a UK registered charity (Reg No. 1185380).
Find us on Amazon Smile and donate with every purchase at no cost to you – just a few minutes of your time to set up Arthur’s Quest as your charity. smile.amazon can now be downloaded as an app on your phone or tablet, making it even easier to take part!
What is SLC6A1?
SLC6A1 is a rare neurological condition in small children that continues throughout their lifespan. Disruption of the gene SLC6A1 has been identified as a prominent cause of a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), seizures of varying types and severity – hundreds a day in many cases, and speech and movement disorders. Based on current evidence the prevalence of this disease is increasing and it is suggested that 3,500 children are born with SLC6A1 each year throughout the world, the majority of which have a ‘de novo’ variant, not inherited from parents.
SLC6A1 is the 10th cause of autism.
SLC6A1 is the 6th cause of epilepsy.
SLC6A1 plays a major role in all psychiatric diseases.
The SLC6A1 gene encodes for the GABA transporter protein type 1 (GAT1) which is responsible for the reuptake of the neurotransmitter GABA from the extracellular space. In the developing brain, GABA exerts an excitatory action, but later becomes the main inhibitory neurotransmitter in the central nervous system. When this inhibition is significantly disrupted, it has a negative impact on brain development leading to attention and cognitive deficits as well as seizures.
There is no cure currently available. Treatment of symptoms including antiepileptic drugs (AEDs) and therapies such as occupational, physio and speech and language therapy are the best families can hope for at present. There is no one size fits all with this disease and so the AEDs are not perfect and what has worked for one child will not work for another. SLC6A1 is a plausible candidate for viral-mediated gene therapy approaches using adeno-associated virus (AAV) vectors.
SLC6A1 needs research to continue into better drugs that work consistently for the complex form of epilepsy experienced by these children and young adults, and for the gene replacement therapy that will be the cure.
The end of suffering for these children and their families is within our reach, and we need your help grasp it.
For all the latest updates on SLC6A1 research, please visit slc6a1connect.org or click the link below.
Depending on how your child is presenting you may also find it helpful to look at the National Autistic Society, Child Autism UK, Young Epilepsy UK, Epilepsy Society UK.