Touching Lives - April 2016
Tackling a rare condition that can rob children of their speech
When Noah was diagnosed with Landau Kleffner syndrome, his parents were told ‘don’t look it up, it will really scare you’. New research funded by Action aims to give answers and hope to families like Noah’s.
Noah was a happy baby and toddler, whose swift development had delighted his parents, but at three years old he suddenly started having seizures. He was initially diagnosed with a childhood epilepsy disorder. But then he started to stutter and slur his words.
“Although he was only three, Noah had an extensive vocabulary and spoke clearly. So the change was very noticeable,” says his mum, Madeka. “It was so sudden and so sad.”
To his family’s shock, within just two weeks, Noah’s ability to talk disappeared altogether.
Noah’s nursery organised music therapy to help him express himself and the family learnt British Sign Language, which Noah picked up quickly. But it was still not clear what was causing Noah’s distressing symptoms.
Desperately worried, Madeka and husband Ryan eventually opted for a private consultation. By now Noah was experiencing up to 40 seizures a day and was finally diagnosed with Landau Kleffner syndrome.
The condition is very rare and affects children’s ability to speak and understand what is being said to them. Unsurprisingly, children often lose their confidence and become frustrated or withdrawn. Many develop behavioural problems and autistic spectrum symptoms, and it can severely affect their social development and education.
Dr Adeline Ngoh, of University College London’s Institute of Child Health, has been awarded a Research Training Fellowship of more than £160,000 to investigate possible genetic causes of this syndrome.
“Despite the disability it causes, not much is known about the condition. Unfortunately, families often have to live with many unanswered questions, there’s a lack of treatment options and long-term disability is common,” Dr Ngoh explains.
Dr Ngoh hopes that improving our understanding may one day lead to the development of better treatments.
Now five, Noah has, thankfully, made good progress. His seizures have stopped and, following intensive speech and language therapy, he is able to talk again. But he has to take seven different medicines every day - including steroids which can cause him to suffer extreme mood swings.
For Noah and his family, more research is crucial. “It’s known that steroids work as a treatment, but not why,” says Madeka.
“Research could eventually lead to treatments with fewer side effects. Because this is such a rare disease, and symptoms can be so sudden and extreme, it often gets diagnosed as something else. More awareness is vital, so doctors can spot it and treatment can begin sooner.”