FORMER Brexit secretary David Davis has opened up about this battle to find a cure for his little granddaugther, Chloe.
Chloe, 5, lives with a very rare, incurable genetic disorder called Syngap1 syndrome.
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Six months after she born, her mum, Sarah, noticed that something wasn’t right.
Four years later, the family were told that Chloe had a heartbreakingly complex problem.
There have been just 77 cases of Syngap1 syndrome diagnosed in the UK and fewer than 300 in the US – although experts believe that there may be thousands of undiagnosed cases out there.
Delayed development
“Parents measure every yardstick: when [babies] sit up, crawl, turn over from one side to another,” David told the Mail.
‘The first thing Sarah noticed was that Chloe could turn one way but not the other. Eventually, we found out one of the Syngap1’s first signs are that it weakens a baby’s muscles.”
The family also clocked that Chloe would sit with cushions surrounding her so that she wouldn’t fall.
She started crawling late and walking “very, very late”.
Searching for answers
In a desperate bid to find out what was causing her child’s late development, Sarah, David’s youngest daughter, consulted experts across the UK.
But no one seemed to offer any answers.
It was only when Sarah joined an online group called Swan – Syndromes Without A Name – for parents whose children had a mystery illness that she started to get somewhere.
Complex challenges
Chloe can’t communicate except for a few basic hand-signals and has only spoken 20 words.
She also suffers over ten seizures a day.
Loud noises cause problems, and Chloe can’t sleep for more than a few hours at a time.
With such a complex set of challenges to deal with, Sarah has had to give up her job to care for her little daughter full-time.
And while she’s been prescribed drugs to manage her symptoms, Chloe’s parents were forced to pull her off them as they turned her into an angry child who purposely tried to hurt herself.
Hope from genome testing
So they’ve now enrolled Chloe into the 100,000 Genomes Project, which was launched by David Cameron whose severely disabled son Ivan died aged six.
Chloe had her genes mapped last year – and finally, her family got the breakthrough they’d been so desperately hoping for.
David said that “the agony of uncertainty was replaced by the pain of knowledge.”
The Genomes Project team confirmed Chloe had an incurable genetic condition, about which little — including the prognosis — is known.
David said that it was like “having the Bible with just one letter missing from the entire text”.
What is Syngap1?
Syngap1 is a syndrome which has elements of other issues like autism, attention deficit, mood and epilepsy disorders.
The first case was only reported in 2009 and then, an increasing number of kids have been diagnosed with it.
Symptoms include:
- low muscle tone
- late development from a year old onwards
- delay speaking and then only speaking two or three words/remaining non-verbal
- drooling
- eating difficulties
- poor attention
- impulsivity
- physical aggression
- mood swings
- fitting, drop attacks and involuntary twitching of muscles
He’s now dedicating his time to finding a cure for his little granddaughter.
He plans to make his own donation to help fund research at the Patrick Wild Centre at Edinburgh University.
He told the Mail: “I won the lottery of life. Chloe, though, didn’t even get a ticket.”
He said that although she can sufferer a lot, Chloe does have “moments of pure delight”.
The little girl loves being in water and swims with a swimming instructor at her local pool.
Coupled with the fact that her favourite film is Dolphin Tale, the family jokes that Chloe is a dolphin trapped in a little girl’s body.
“Chloe loves water. Children with Syngap1 usually do,” David explained.
The condition makes it hard to feel surfaces so water is easier for sufferers as it’s on their skin.
Her family’s dream is that one day, she’ll be able to swim with dolphins.
David hopes that gene mapping tech will give Chloe a better future, and that a treatment wll become available soon.
Teh Patrick Wild Centre at Edinburgh University has just launched a new fund to investigate the impact of the Syngap1 gene on brain development.
You can donate to the research here.
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