Heartbroken mum loses all three children to rare Niemann-Pick disease only ever found in 110 Brits

A HEARTBROKEN mum lost all three of her children to a disease which has only ever affected 110 people in the UK.

All of Toni Mathieson's children with partner Stewart suffered from Niemann-Pick disease, which stops the body from breaking down fats in the cells around vital organs.

Two of their children, Hannah and Samuel, died as babies, while their daughter Lucy lived until she was four, Chronicle Live reports.

Lucy was born with an enlarged liver, jaundice and a spleen that was larger than normal.

After undergoing a series of tests Toni and Stewart received the devastating news their little girl had Niemann-Pick disease type C and had just six months to live.

Toni, from Washington, near Newcastle, said: “When we had our first daughter back in 2003 she was born and we found out she had a very rare disease called Niemann-Pick disease type C and that started us on our journey with rare diseases.

“They were not on our radar, it was a bit of a shock to say the least."

As Lucy grew older she was unable to speak or walk, with the disease starting to take hold when she was around two years old.

Toni said her daughter "never really met her milestones in her early years," but was "a very bright, happy child and she did eventually start to crawl" although she was never able to speak or walk properly.

She added: “From the age of two the disease sort of took hold and started to progress and meant she started not being able to swallow and not being aware, it affected her eyesight and was not able to walk at all and needed 24 hour around the clock care.”

Lucy was primarily looked after at home, but suffered from pneumonia a lot meaning she required hospital visits.

“We kept her at home and had the support of the community nursing team who were absolutely amazing and the hospice as well that provided lots of support for us as a family and of course the Niemann-Pick UK nurse and specialist support team,” Toni said.

“I wouldn’t be here without their support at that time. She did pass away at home surrounded by her family so we were very lucky to be able to do that.”


When Toni and Stewart fell pregnant with Hannah and then Samuel there was a one in four chance they would have the disease.

Toni said: “They passed away as tiny babies, unfortunately they were very severely affected. Both born in 2004, with my daughter Hannah in January and our son Sam in December.

“We could have had tests but we chose not to and we kind of hoped they wouldn't be affected but unfortunately they were."

It was after the birth of Lucy that Toni and Stewart became aware of the charity Niemann-Pick UK (NPUK) which provides support, information and advice to families while facilitating research into therapies.

Toni said: "I spoke to the founder and she told me at the time her son was standing next to her and was 26 and had Niemann-Pick type C and was playing rugby.

“That was just wonderful to hear and gave me hope for the future having just been told by a doctor in Newcastle that we would probably lose our daughter very soon.

“While that didn’t change the course of Lucy’s condition – because everyone with Niemann-Pick type C is affected differently and depending on the mutations they have and the symptoms – it did give me the hope to go on and I think that is so important.”

Now, Toni is the chief executive of charity NPUK and supports other families of children with rare diseases.

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