An Arbroath mum has partnered with other parents across the UK to create a new charity for a rare genetic illness.
Only a few hundred people across the world have been diagnosed with Glucose Transporter Type 1 Deficiency Syndrome (Glut1DS).
The condition is so rare that mum Stefanie Watson discovered there was very little support for the illness when her son was diagnosed at just six years old.
But Adam, now 17, has overcome the difficulties of living with the condition, which causes epilepsy, movement disorders and cognitive impairment.
He has even competed in the Special Olympics and won medals for his efforts.
Stefanie, 44, from Arbroath has now set up the charity with four other parents of children with the condition.
It has been five years in the making but now the charity is working with organisations across the globe.
One of their first successes has been to create an official day to raise awareness. July 10 will mark the first International Glut1 Awareness Day.
Stefanie hopes this will give other people with Glut1 Deficiency and their families the support she and son Adam, now 17, did not have.
“The first thing we did when Adam was diagnosed was Google the condition, because we’d never heard of it before,” said Stefanie.
“Because it is so rare and unknown, there wasn’t any support for us out there.
“The whole umbrella of the deficiency is so vast that every child experiences different difficulties.
“We set up the charity because there wasn’t any specific support for parents, carers or kids who had the condition in the UK.
“There’s a foundation in America, but it doesn’t really apply to our NHS.”
Diagnosis difficulties
Adam was originally misdiagnosed with cerebral palsy after experiencing his first seizure at two years old.
The seizures were quickly stabilised with medication, but the family experienced difficulties in securing an accurate diagnosis for years afterwards.
“It was a constant backwards and forwards to Ninewells saying ‘this isn’t right, there’s something wrong’ for four years,” said Stefanie.
“The evidence was there, but the condition was only discovered in 1998. So not only was it rare, but it was really new as well.”
Luckily, one doctor had attended a conference where the Glut1 deficiency was mentioned.
“A lot of children with the deficiency have a smaller head, which Adam didn’t have, but the doctor ran the tests anyway,” Stefanie said.
“I remember sitting there when we finally had the bit of paper with the diagnosis and they had found the gene mutation.
“I feel blessed that we had the right doctor that day.”
‘It was so frustrating’
Now Adam has gone from strength to strength, managing his condition through a special diet
Before adopting the diet, Adam struggled to walk some days.
Now, Adam has cycled in the Special Olympics for nearly four years and won silver and bronze medals.
“It was so frustrating for him,” Stefanie said.
“One day he would be running about and the next he would be calling me because he’d fallen and couldn’t get up back off the ground.”
Stefanie advised any parents going through similar experiences to have faith in themselves.
“It got to the point where I started doubting what I was seeing,” said Ms Watson.
“So I started recording each instant in a journal so I could bring it to the doctor, because it can be hard to gather your thoughts in the doctor’s office.”
Raising awareness
The five parents have partnered with medical experts in the field to provide support and education for families affected by the illness.
They hope to support further research into the rare condition, as studies suggest that the vast majority of patients have not been diagnosed.
“The beginning for us is about building networks,” said Stefanie.
“We’ve been in contact with other charities, which has been helpful.
“We just want to create a supportive network for other parents, kids and people who might get diagnosed in the future.
“We’re also looking to raise awareness now as the condition is still under diagnosed.
“In the future, we hope to support our experts in researching Glut1 deficiency.”
To celebrate International Glut1 Awareness Day, the new charity is planning a Zoom chat, as well as an international online yoga session.
“It’s just about raising awareness and supporting our young ones,” said Stefanie.
What is Glut1 Deficiency Syndrome?
Glut1DS is a rare genetic condition that affects brain metabolism. This causes a wide range of neurological symptoms including epilepsy, movement disorders and cognitive impairment.
There is currently no cure for the illness.
The recommended treatment is a medically supervised ketogenic diet. This is a high fat, low carbohydrate diet which can help to improve most symptoms for patients.
The number of people diagnosed with Glut1DS worldwide is currently thought to number in the hundreds. Less than a hundred people have been diagnosed in the UK and Ireland.
However, recent studies suggest the vast majority of cases have not been diagnosed.
The new charity can be found on Twitter, Facebook and Instagram.