Medics have decoded a teenager’s genetic make-up and made a 12-year breakthrough in the diagnosis of her violent seizures.
Hannah Patmore, 14, has suffered from polymorphic seizure disorder ever since she was just two years old after she began having epileptic fits.
For more than a decade doctors have tirelessly tried to help the youngster deal with the violent fits as her family fear for her wellbeing.
Now world-leading specialists have made a significant discovery after more than a decade of investigations to decipher the cause of her condition.
By decoding her genetic make-up and analysing the genes of her parents they have found she suffers from a genetic mutation of the SCN2A gene.
The condition - which is thought to affect less than 100 children in the entire UK - means sodium channels in her brain are broken and electric impulses are unable to travel down the nerves, sparking epileptic fits. Now her family are hoping the discovery could pave the way for advanced treatment and medication that could change her life forever.
Hannah’s mother, Alison, 45, a self-employed businesswoman who lives with husband Simon, 49, and son James, 16, a pupil at the Sixth Form at Kings Priory School, Tynemouth, said: “Up until the age of two-and-a-half she had no seizures but then she had severe convulsions.
“A week later they were just coming faster and stronger and that’s when we went to hospital. Dr Rob Forsyth started working on Hannah’s case and for the past 11 years he’s been helping us.
“We’ve been through various medications and the seizures have been quite bad in the past. There have been nasty seizures where she’s crashed to the ground and had stitches and lost teeth.
“We are in the earliest stages of the diagnosis but we’re so grateful for the work of Dr Forsyth and his team.”
Hannah, who attends Beacon Hill Special School in Wallsend, North Tyneside, needs round-the-clock care and has problems with communications after also being diagnosed with pervasive development delay.
Alison, who is a former food technology teacher but now runs the BakeSmart company, said they are always living in fear that Hannah’s epileptic fits could prove fatal.
She said: “It’s terrifying when Hannah has a fit and it always will be - you live knowing Hannah could have an epileptic fit and fall and that would be her last. There’s always that fear but that’s the role of a parent.
“We‘ve got incredible support and genetic tests have been coming along for some time. These medics are working with so many people they are able to change people’s lives. They are fabulous neurologists, we couldn’t be in better hands.
“We are so grateful, our family, and our external family. We can work anywhere in the country but we couldn’t get the same support we get here in Newcastle.”
Paying tribute to Hannah’s bravery, Alison, from Hascombe Close, Whitley Bay, said: “Hannah is an absolute star. I’ve never met such a resilient child who bounces back from everything - this last year she’s been so happy as an individual.”
Hannah’s story highlights the world-leading work carried out by Dr Rob Forsyth, a paediatric neurologist based at Newcastle’s Royal Victoria Infirmary, and a six-person at Newcastle’s RVI.
Dr Forsyth is embarking on a huge drive to raise cash that could help unlock the science behind childhood brain diseases including meningitis, epilepsy and mitochondrial diseases.
It is thought that cures and treatments developed on Tyneside to boost survival rates of sufferers could also help improve the lives of thousands of youngsters suffering from brain diseases.
Some of the illnesses encountered by Dr Forsyth and his team are so rare they have not yet been medically identified.
Last night Dr Forsyth, a trustee on the Child Brain Research organisation, said there was a still a “great distance” between diagnosing Hannah’s condition and developing the correct medication.
He said: “We’ve known for many years that Hannah clearly has learning problems and bad epilepsy and this is an example of how medical science in this area has been moving forward.
“We are understanding more and more about epilepsy in children. Hannah’s epilepsy is an example of the kind of condition that we in the medical community had not really identified but we are now recognising and finding more often.”