Walking to raise awareness

Helen Newton leaves Porto on May 1 to walk the 300 kilometres of the Coastal Route to Santiago de Compostela. The British woman will complete this 15-day journey to raise awareness of SLC6A1, a rare genetic disease affecting her son, the oldest patient diagnosed with the condition in the United Kingdom, and to raise funds for its research.

Helen had knee surgery and knows the route will be gruelling, but considers that challenge incomparable to what patients face every day, and walks so that science may advance and these families may finally have answers. To support the cause, she launched a GoFundMe campaign benefiting Arthur’s Quest, a British non-profit that supports patients and funds clinical trials.

SLC6A1 is a mutation that prevents the correct transport of GABA, the brain’s main inhibitory neurotransmitter, and one of the most common causes of childhood epilepsy. Those living with the syndrome face severe seizures, cognitive and motor delays, language difficulties and autistic traits.

The gene was already known, but its link to the syndrome was only established in 2015. Underdiagnosis remains an obstacle, with around 500 cases identified in 2023, growing as genetic testing spreads. The initiative follows the SLC6A1 Symposium in Lisboa in August 2025, which reinforced the SLC6A1 Europe Research & Support Alliance, a European network pursuing effective treatments and a possible cure.