A Fife tot has been diagnosed with a condition so rare his parents hope to take him to America to learn about it.
Lloyd Penman is believed to be the only child in Scotland with STXBP1 encephalopathy with epilepsy.
The 20 month-old has already suffered 600 seizures in his short life and often loses the ability to walk or talk.
His parents Amber and Sean know so little about their son’s outlook they want to meet other families in the US living with the condition to see how their STXer children, as they are known, are affected.
A campaign has been launched to raise £5,000 to send the family, who live in Kennoway, to Disney World, Florida, for the meet and greet in May, when they will spend several days with the other families.
Amber, who is to do a sponsored skydive, said: “When we go and see how other kids are and how they have been affected, we hope it might put our minds at ease and let us see that it’s not the end of the world.”
Lloyd’s diagnosis was broken to the couple just over a fortnight ago, after they suspected there was more to his daily seizures than simply epilespy.
Hair stylist Amber, 25, said: “The news has hit us hard, it has been difficult for us to accept.
“It is so rare we don’t know how bad it is going to be.”
Lloyd’s condition is an extremely rare gene mutation characterised by seizures and abnormal brain function which will cause developmental problems, possibly autism and may leave Lloyd unable to ever walk or talk fully.
Only around 300 people have it worldwide.
Consultants caring for Lloyd at the Victoria Hospital, in Kirkcaldy, and the Royal Hospital for Sick Children, in Edinburgh, have been unable to answer all the questions Amber and Sean, 27, who works in building services, have.
Lloyd’s development has been slow and the only words he says are “mummy” and “daddy”, but sometimes he will stop saying them.
Amber said: “He can walk and talk but when he takes a seizure he can’t, he forgets how to.
“Some kids [with the condition] are PEG [tube] fed, they struggle to eat, and Lloyd struggles with solid food.
“We are seeing signs of autism. There are a lot of different things and even the doctors don’t know enough about it.
“That’s why we want to go to this meet and greet to meet other families who have already dealt with what my husband and I are dealing with now.
“It will be beneficial for us and for Lloyd to meet the other children.”
The couple also hope to raise awareness of the condition, fearing there are other undiagnosed children whose parents believe they have only epilepsy.
A fundraising page has been set up for Lloyd’s trip, and family and friends are organising several events, including coffee mornings, a thrift shop, sportsmen’s brunch and supermarket bag packing.
