Devastated mum loses all three kids to rare disease found in 110 people in UK
A mum lost all three of her children to a rare disease which has affected just 110 people in the UK.
All of Toni and Stewart Mathieson’s children suffered from Niemann-Pick disease, which stops the body from breaking down fats in the cells around vital organs.
Their daughter Lucy defied the odds and lived until she was four-years-old, despite being given six months to live.
However their two other children, Hannah and Samuel, died as babies.
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, from Washington, near Newcastle, received the devastating news their little girl had Niemann-Pick disease type C and had just six months to live.
The cruel disease prevented Lucy from being able to walk or talk as she grew older.
Toni 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.”
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: “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.
“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 1 in 4 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 and facilitates research into therapies.
Toni said: “We didn’t have the internet, we had a friend who found information for us and brought it over but were very reluctant to share it with us because it was very negative and upsetting.
“But they did but thankfully on that information they provided was a number for NPUK and I phoned them straight away.
“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.
She said: “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.”
Later this month Penshaw Monument and the Northern Spire Bridge will be lit up in green, pink and blue to mark Rare Disease Day on February 28, with event normally taking place on February 29.
Toni said: “I now run the organisation NPUK and we celebrate Rare Disease Day each year by raising awareness and explaining to people who may not know about or understand rare diseases a little about our experiences, the reasons why people with rare diseases need to have access to health and social care, opportunities in life and to ensure they have rapid diagnosis and they can access treatment.
“On the rarest day of the year we have Rare Disease Day and to raise awareness of the fact there are over 6,000 identified rare diseases and that means that in the world there are approximately 300 million people affected.
“While we all have a rare condition, together we are not so rare.
“I’m really pleased to see that the local councils are taking part in Rare Disease Day.
“It is really fantastic to see such support. This will be, as far as I’m aware, the first time they have supported it and I like to hope that continues.”