Rare Disease Day: The family who lost three children

"I think unless you're affected, you really don't understand or recognise the fact that rare diseases exist," Toni Mathieson said

A mum who lost all three children to a disease which has affected only 110 people in the UK has welcomed plans to light up monuments on Rare Disease Day.

Toni and Stewart Mathieson discovered their five-week-old daughter Lucy had Niemann-Pick Type C (NP-C) in 2003.

Given six months to live, she defied the odds and lived until she was four, but the couple also lost babies Hannah and Samuel to the same disease.

Mrs Mathieson is hoping to help more people understand rare diseases.

NP-C is a rare inherited neurodegenerative disease that affects infants, children and adults. It is caused by an accumulation of lipids (fats) in the liver, brain and spleen.

Mrs Mathieson said: "Lucy was incredibly sunny and caring, always smiling.

"She had huge blue eyes and she would just capture your heart.

"I remember being upset a few times during her lifetime, you know, when certain things would happen and especially after losing her brother and sister, and she would be the one to come over and pat me on the back and comfort me. That's my memory.

"She was a beautiful child."

"Lucy never met her milestones, she never walked or spoke, but she was happy and beautiful," Mrs Mathieson said.

Mrs Mathieson went on to become chief executive of charity Niemann-Pick UK after it provided "amazing support" and "hope" to her and her husband when they needed it.

"My husband and I were absolutely shocked and devastated to learn that our first daughter Lucy was diagnosed with Niemann-Pick disease type C.

"I didn't know a thing about rare diseases, neither of us did.

"We weren't expecting that at all, we just thought we'd have a lovely baby. We'd been looking forward to having a child and it was devastating."

Mrs Mathieson became chief executive of charity Niemann-Pick UK to help other families

Events are taking place around the world on Sunday to mark Rare Disease Day, including the lighting up of monuments close to the couple's home town of Washington.

Sunderland landmarks including Penshaw Monument, the Northern Spire Bridge, Fulwell Mill, Hylton Castle and Seaburn Lighthouse will be lit in pink, green, blue and purple; the colours chosen to symbolise rare disease awareness.

Mrs Mathieson said: "I'm very pleased to see that our local areas are getting involved in Rare Disease Day. That means a lot to me personally having come from Sunderland.

"I got to spend time with both of [the babies] and that means a lot to me. They're very precious in my memory and very precious to us.

"We do feel very grateful to have had the opportunity to become parents. Some people would think that's rather strange I think considering we've lost them and what we've been through.

"But I remember them so well, they brought so much love into our lives and taught us so much, so I'm very grateful for that."

Mrs Mathieson said it was "devastating" when Lucy's brother and sister didn't survive because of the same condition

The couple hope by raising awareness on Rare Disease Day 2021 more people will understand the effect it has on families.

Mrs Mathieson said: "I think the term rare disease puts people off from learning about it and they think, because it's a rare disease, it's not going to affect them.

"But the truth is, there's over three hundred million people in the world living with a rare disease and so together we're not rare at all.

"What I'd like to see out of Rare Disease Day is that many more people take notice and understand that we are not rare - as a single disease we might be rare, but collectively we're not.

"The reason we want to raise awareness is so that people with rare diseases have life opportunities just like anyone else, so they can access social opportunities, the right healthcare, and to make sure that they can live as full a life as possible with the treatment they need."