Being a nurse helped Lindsay see the signs that something wasn't quite right with her two children, but being a Mum helped her to keep pushing for answers.
When Lindsay became a mother for the first time in 2016, she sensed almost immediately that something was not right. Her newborn son showed subtle movements that reminded her of seizures, something she recognised from working as a paediatric nurse at Evelina London.
She raised her concerns again and again but her worries were often brushed aside. As he grew up, the signs became harder to ignore. He had staring spells, constant blinking and slow falls that did not look like anything she had seen in other children. Still, Lindsay found herself doubting her own instincts.
“You walk a fine line between trusting your instincts and worrying you’re being paranoid. You hand your trust over to professionals, even when you’re one yourself.”
It was only after multiple visits to Maidstone and Tunbridge Wells NHS Trust that Lindsay’s son was finally referred for further neurological testing, including an EEG (electrical tracing of the brain) that confirmed epilepsy. As he was under two, doctors ordered a genetic panel. Five months later, Lindsay received a life changing phone call while walking back to her car. Her son had SLC6A1, a newly identified genetic condition linked to epilepsy and developmental delay.
“I sat on someone’s garden wall to take in the information.”
At the time, there were only around 35 patients known worldwide and only a few published papers about the condition.
Genetic testing showed neither parent carried the variant and they were told the chance of recurrence was extremely low. Their daughter was born in 2019 and at first seemed completely different. She was strong and sociable and met milestones her brother had struggled with. However, at ten months old she began blinking in the same unusual way.
“We were in denial for a couple of weeks… then other people started commenting she was doing that weird thing our son used to do.”
A 24 hour EEG and genetic test confirmed she also had SLC6A1. Only then did the family learn about parental mosaicism which had never been discussed before.
“If they had said it was a 50% chance the first time, we probably would not have had a second baby.”
Both children live with refractory epilepsy, intellectual disability, autism, ADHD and significant behavioural challenges. Medication has helped reduce the most dangerous seizures, but daily life still revolves around keeping them safe. Their daughter has no awareness of danger and is constantly on the move.
“She has escaped with the key from the front door twice and we have had to chase her down the middle of the street.”
Lindsay keeps the doors locked, hides the keys and keeps the windows closed even in the summer. Even a simple day out to the beach as a family requires lots of planning, and seeing other families relax can feel bittersweet.
Despite the challenges, Lindsay has found a huge amount of support in the global SLC6A1 community. She joined a small Facebook group of families and as the community grew, so did the drive for research and advocacy. Inspired by another parent, she went on to set up SLC6A1 Connect UK in 2019 and is now the President of the SLC6A1 European Alliance.
Her nursing background now plays a different role. It helps her interpret research, support other families and collaborate with clinicians and scientists.
Meeting other families at conferences in the UK and abroad has helped Lindsay feel less alone and more understood.