An Angus youngster who suffers from a very rare genetic disorder is awaiting the results of a clinical trial.
Adam Watson is one of only 550 people worldwide who suffer from Glut1 Transporter Deficiency Syndrome.
It means his body does not transport glucose from food to his brain properly and has caused severe symptoms that were misdiagnosed as cerebral palsy and epilepsy as a toddler.
Because glucose, a type of sugar, is the main source of energy for the brain, the condition can lead to weakened muscles, seizures and in extreme cases, a child being unable to walk or talk.
The only treatment is a special diet called the ketogenic diet, a high-fat diet with large amounts of oil, butter, mayonnaise or cream.
As he grew up, mum Stefanie said Adam would go from being completely normal and wide awake to stumbling around “like he was drunk”.
Stefanie said the next steps for Adam are to continue his diet and wait for the results of a clinical trial of a dietary substitute.
Adam’s 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 family are also awaiting the results of the clinical trial of C7 oil (triheptanoin) which is being studied as a potential new treatment and as an alternative to the ketogenic diet.
There is also the hope of the NHS supporting Adam to have a one to one session with the European expert on Glut1 Dr Jorg Klepper, who recently opened a clinic in Lingfield, Surrey.
Adam and his mum Stefanie were the guests at Arbroath Round Table’s latest meeting to update them on how things are going.
An opportunity arose for Stefanie and Adam to travel to America last year to attend a conference 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 Adam’s plight, there was no hesitation in writing a cheque to help them on their way.
They also reached out to Trena Goble Roudebush, who is a member of a sister club in Indianapolis and also the national president of Active 20-30 in the USA.
Stefanie said: “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 fundraise 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 for Adam’s 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 C7 oil ((triheptanoin) is being studied as a potential new treatment for Glut1 Deficiency and as an alternative to the ketogenic diet.
gstrachan@thecourier.co.uk