2 days ago
Parents of boys, 4, living with one of rarest conditions in the world hope for gene therapy cure
ITV Meridian's Stacey Poole has been speaking to two families from the south about their desperate search for a cure for their children's rare genetic condition.
Families from our region are in a race against time to try and find a cure for one of the rarest genetic conditions in the world.
There are only 3 children in the UK living with CRELD1 and there is currently no cure.
The condition causes a huge range of symptoms from seizures, to development delay and heart issues.
It was only discovered thanks to the tenacity and desperation of one Hampshire family who reached out via Facebook to try and find answers.
What they discovered is now helping families around the world.
It has many symptoms, but the seizures are the most debilitating, and some children can have up to 200 of them a day.
But it also causes heart issues, developmental and cognitive delay, hearing loss, immature eye development, respiratory issues and immune dysfunction.
Adam and Jess Clatworthy's daughter Lola had her first seizure when she was three months old.
The family spent the next two years in and out of hospital asking questions that no-one could answer.
Multiple tests, including ECGs, EEGs, MRIs and genetic testing, both on the NHS and privately, didn't offer any new information either.
Adam reached out to support groups posting a video of Lola having a seizure hoping someone maybe able to help.
By pure chance, a mum in Canada responded to his Facebook post because she recognised the seizure symptoms in her own son. Her son had a very rare condition called CRELD1.
Jess Clatworthy
Without a diagnosis, and with no indication that Lola's condition was genetic, Adam and Jess had a third child, this time a little boy called Alfie.
Four days after Alfie was born, Lola passed away in her sleep from SUDEP, a tragic outcome for many children diagnosed with severe epilepsy.
Whilst grieving for Lola, they also realised that Alfie, although stronger than his sister, also had the same symptoms. He had his first seizure at three months old.
Adam Clatworthy
But this time Adam and Jess had more knowledge, and they contacted the family in Canada who had responded to the video of Lola
Jess and Adam have set up their own charity - Creld 1 Warriors - to explore repurposing drugs using AI and find a gene therapy.
Through their desperate search for answers, the Clatworthy family were brought together with the Powell family.
Sophie and Oli Powell's son Angus was diagnosed with CRELD1 at 3 years old, but recently the seizures have become very severe - and earlier this month he was rushed to hospital
Despite trying all the medications available - doctors decided the only option was to put Angus into an induced coma.
Oli and Sophie, from Chaddleworth, Berkshire, say that their son's development is already significantly delayed and the episodes can take months to recover from.
Sophie Powell
Though the family are uncertain of what the future holds, uniting with the Clatworthy family has given them support and reassurance.
Oli took on the epic challenge of running 7 marathons in 7 days.
Oli who served as an Army Officer in the military, raised more than £50,000 towards much-needed research into the condition.
Working together on the research the families have already made achievements.
Sophie and Oli were able to screen their unborn baby after Jess and Adam ensured Creld 1 is now a genetic condition that's screened for in the UK.
Meanwhile the CRELD1 paper means that when people have genetic testing, CRELD1 will now be one of the genes that is tested, thanks to the work by the charity
Both families want to encourage others to share their story.
