EIGHT-year-old Adam Watson from Arbroath and his mum, Stefanie, were the guests at Arbroath Round Table’s latest meeting.
Adam suffers from a very rare genetic disorder called GLUT1 Transport Deficiency Syndrome which affects his brain’s ability to metabolise glucose and has caused severe symptoms that were initially misdiagnosed as cerebral palsy and epilepsy.
Suffering from seizures and slow development as a toddler, Adam wasn’t progressing as he should. As he grew up he’d go from being completely normal and wide awake to stumbling around and as mum Stefanie described it “like he was drunk”.
At the age of six and with the aid of technology, as Stefanie would record his funny turns on camera, the information collected led to a new neurologist wanting to ‘rule out’ GLUT1. GLUT1 had only been diagnosed in around 200 children worldwide at this time.
When this was actually found to be the cause it started a difficult journey for the family in coming to terms with wholesale lifestyle changes as Adam must have a diet made up of very specific quantities and ratios.
His daily intake is around 1,500 calories and consists of food with ratios of 62.3g of fat, 10.7g of protein and 10g of carbs. The fat includes 40g of oil and 30g of liquid fat called Calogen with each meal. A ‘treat’ to Adam is one chocolate button or a couple of grapes but even the treat causes risks by affecting his body’s ability to transport glucose to the brain.
An opportunity arose for Stefanie and Adam to travel to America to attend a conference being held by the world’s leading expert on GLUT1 and the family reached out to a number of local groups for any support they could offer. When the members of Arbroath Round Table heard of the Watson’s plight there was no hesitation in writing a cheque to help them on their way, but the help didn’t stop there.
International officer Brian Cargill said: “Being part of an organisation which spans the globe, we knew we would be able to do more than just donate money. When we heard the conference was being held in Indianapolis, we reached out to our friends in a sister organisation called Active 20-30 in the USA.
“One of our good friends, Trena Goble Roudebush, is a member of the Indianapolis club and at the time was also the national president of Active 20-30 in America. When we spoke to her about Adam and his very specific needs, she mobilised things on the other side of the Atlantic and looked after Adam and the family while they were stateside.”
Stefanie continued: “We needed to raise a lot of money to get to America and the financial assistance of Arbroath Round Table and all the other clubs and people who helped fund-raise was very much appreciated. What money couldn’t buy, though, was the help of Trena and her friends in Indianapolis who picked us up at the airport, took us sightseeing and most importantly took us food shopping to places where we could get the food Adam needs.
“This might sound really basic but when I was speaking to other parents at the conference they didn’t have this support and really struggled to get what they needed. I can’t thank the guys of Arbroath Round Table and Trena and her Active 20-30 club enough.”
The next steps for Adam are to continue his diet and wait for the results of a clinical trial of a dietary substitute. There is also the hope of the NHS supporting Adam to have a one-to-one session with the European expert on GLUT1, Dr Klepper.
There are now over 550 cases diagnosed worldwide and Adam and his family have been pioneers in helping the medical profession get to grips with the disorder.