Devastated mum loses 3 kids to ultra rare illness only 110 people have ever had

A mum of three has opened up after losing all of her children to the same rare disease.

Toni Mathieson’s children all suffered from Niemann-Pick disease type C, which is so rare only 110 people in the country have been diagnosed with it.

Her daughter Lucy miraculously survived until she was four but siblings Hannah and Samuel tragically died as babies.

The disease prevents the body from breaking down fats in the cells around vital organs, including the brain and the liver.

Lucy was born with an enlarged liver and spleen, as well as having jaundice, and following a series of tests, parents Toni and Stewart were told she had just six months to live.

Ms Mathieson 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.

“The way the diagnosis was delivered was not particularly great. We were told we might have six months with our child and I obviously started to cry within that session and the doctor then asked me why I was crying.

“Obviously at the time you just get on with things and don’t think about it but always worry about others and the way the diagnosis is given is really important and supporting the family.

“It was very difficult for us not to even accept the diagnosis but to even say the words Niemann-Pick, they sound so wrong and we couldn’t see how this would progress in our beautiful daughter we had waited so long for.”

The disease began to affect Lucy more at the age of two as she was unable to speak or walk and despite predominantly being treated at home, regular bouts of pneumonia meant frequent hospital visits for the family.

“Lucy never really met her milestones in her early years, though I have to say she was a very bright happy child and she did eventually start to crawl although she never was able to speak or walk properly,” Toni 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.”

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Toni gave birth to Hannah and Samuel in 2004, in January and December respectively, and there was a one in four chance that they would also have the disease.

Both children tragically died as babies and Toni’s experiences dealing with the disease have led to her getting involved with the charity Niemann-Pick UK, which she is now the chief executive of.

The organisation supports families with information and advice, as well as providing vital research into therapies and treatments for the disease.

"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,” said Toni.

“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.

“I started to get involved in the charity when Lucy was about a year old, around 2003/2004 and I became involved in a professional basis since 2005 because despite the fact I have lost Lucy, her brother and sister to this condition there is still so much that needs to be done for families that are living with rare diseases today.”

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