Family of Galashiels toddler step out for Cyctinosis Foundation

Ava Nairn with mum Nicole and dad Ashleigh.
Ava Nairn with mum Nicole and dad Ashleigh.

The friends and family of a Galashiels tot diagnosed with a rare genetic disorder are each putting their best foot forward to help fund research for a cure for the condition.

Two-year-old Ava Nairn was diagnosed with cystinosis, a genetic metabolic disease causing kidney failure, last year.

The condition, only known to affect 2,000 people worldwide, causes cystine, an amino acid, to accumulate in organs of the body including the kidneys, eyes, liver and brain.

Without specific treatment, children with cystinosis develop end-stage kidney failure around the age of nine.

Ava’s mum, Nicole Moffat, 28, explained: “I knew something wasn’t right. Ava wasn’t growing or gaining weight, and she was excessively thirsty.

“I thought it was diabetes. I spent last year going backwards and forwards to the doctor’s, then, before Christmas she became really unwell.

“She was having spasms through low calcium levels, and they couldn’t get on top of what was going on.”

Ava was rushed to the Royal Hospital for Children in Glasgow and kept in for five weeks.

“We got the diagnosis on Christmas Eve,” said Nicole, a mental health nurse at the Borders General Hospital in Melrose.

“It was worse than I feared because there is no cure.

“By the time we got the diagnosis, the damage had been done. She’s going to need dialysis and a kidney transplant, though we’re hoping to get her through primary school before the transplant.”

Ava, who goes to Cherrytrees Nursery in Melrose, now takes round-the-clock medications in an attempt to slow the progression of the disorder and further damage to her other organs.

“At the moment, we are able to top her up with the electrolytes and salts that her kidneys flush out,” Nicole explained. “Her dad and I get up through the night to give her her meds, and she has eyedrops every two hours through the day to prevent further damage to her eyes.

“Without this medication, things would be pretty bleak.

“Not so long ago, it was rare for people to reach adulthood with this disease.”

The hospital will always play a big part in Ava’s life, even post-transplant, as she needs lifelong medication, but after a turbulent year, the family are hoping she can begin to enjoy some time at home.

“Ava has spent a lot of time in hospital these last six months while doctors tried to stabilise her health, but this last two weeks she has been like a typical toddler,” Nicole said.

“It has been horrendous, but we’re trying to get back to some normality.

“We’re beginning to build her back up at nursery, and I’m going back to work.”

Now, a fundraising team led by Ava’s grandad Keith Moffat is planning to walk a 12-mile circular route from Clovenfords, taking in the Ashiestiel Bridge, Yair House and the Three Brethren, near Selkirk, on Sunday, August 26, to raise funds for the Cystinosis Foundation.

Almost £3,000 has already been donated at www.justgiving.com/fundraising/nicole-moffat

“Ava and I will start the walk with them, and the plan is that we will come out to meet them coming in at the end,” Nicole said.

“My dad came up with the idea of a sponsored walk because we wanted to do something to help the foundation support families and continue its research.

“There’s a medication available in America that’s given 12-hourly that’s not licensed here, but Sunderland University are looking into designing their own medication. Hopefully, one day they will find a cure.”