The family of a "bright and bubbly" boy with a rare genetic condition are raising funds to buy him an all-terrain wheelchair to improve his quality of life.
Three-year-old Luca was diagnosed with life-limiting Lesch-Nyhan syndrome last January. It affects approximately 1 in 380,000 people and occurs almost exclusively in males – with only six known cases in Scotland.
Maddi Toland and her partner William Ogg, who live in Milngavie, want to buy their son a better wheelchair so he can move easily at the beach and at the park with his two-year-old sister Rosie.
Former nursery nurse Maddi recalls how delighted the toddler was to roam around freely in the Hippocampe wheelchair they hired for a day out in North Berwick in September last year.
The 26-year-old cares for Luca and Rosie at home full-time while dad Liam works as a chef and describes her son as "the happiest wee thing".
"It's been hard but we've tried to give Luca the best quality of life possible. We just want him to be happy and healthy," she said. "Rosie just wants to play with her brother all the time but there are things he can't do. He can't sit up unaided, he can't speak or feed himself.
"There's no damage to his brain. He knows what he wants to do, and is frustrated he can't do it. When you go past something he wants to see or do that he can't, you can see the sadness in his eyes. It's heartbreaking."
Luca's condition means he is completely immobile and non-verbal. His neurological abilities are described as "difficult to manage," and he regularly has painful spasms, meaning his muscle tone has to be medically controlled.
Maddi recalls noticing her son wasn't reaching the usual developmental milestones weeks after his birth in April 2018, such as head control and hand movement: "As a first-time mum I thought I was paranoid but as time went on, I knew something wasn't right. It was a mother's instinct."
After months of tests, doctors initially diagnosed Luca with cerebral palsy and referred him to the neurologist at Glasgow Children's Hospital for further scans. He was then diagnosed with Lesch-Nyhan syndrome in January last year.
It has been a tough journey for the young family as they grapple with the unknown and fight to give Luca a better future.
The tendency to self-harm is a common characteristic of Lesch-Nyhan Syndrome; Luca had to have all of his teeth extracted due to excessively biting his fingers last November.
Less than two weeks later, an imaging test on Luca's GI tract showed early sign of kidney stones and he was also forced to undergo an emergency operation to his twisted bowel.
"If his bowel had twisted slightly more, it would have been fatal," Maddi said.
"It's so rare that the doctors don't really know what they are dealing with. We just need to see what happens and what treatment he responds to. No medication is really helping him.
"He is prone to spasms so he is on strong painkillers to help him deal with it. He also gets tired as it takes a lot of energy for him to sit upright. It's been horrible for him.
"Many children with this condition die in childhood, but we don't like to think like that."
Maddi and Liam have pulled out all the stops to keep Luca entertained while he was shielding at home during lockdown. They bought a trampoline and basket swing so he can play in the garden with Rosie and his three-year-old cousin Finlay, who lives around the corner.
"They are all best buddies – they are so close. He loves being around other kids.
"Rosie is so good with Luca. helps him with his medicine and tries to feed him. When he is upset she strokes his face and tries to give him her dummy. We couldn't ask for a better little sister for him."
Now the family are raising money for a Hippocampe wheelchair, which costs in the region of £5000 including components such as feet rest, harness and brakes. They hope it means they can take him out in the great outdoors on holidays around Scotland and put a smile on his face.
"In the woods and at the beach is where he is happiest," Maddi said. "We're quite animated as a family. When we go on walks, we pretend we are hunting bears. Rosie hides behind trees and jumps out at him and he loves it.
"He just loves being a part of everything else, but not much is accessible for him. It made a massive difference.
"I feel guilty that we can't just go and buy this, but not many people have a spare five grand. We just want to do everything we can to make his life better. He deserves the world."
You can view the GoFundMe campaign here.
