We lost three children but now support other families
MUM HEADS UP CHARITY FOR RARE DISEASE
A MUM has opened up about tragically losing three children to a disease so rare only 110 people in the UK have been diagnosed with it.
Lucy Mathieson was born in 2003 with an enlarged liver, jaundice and a spleen that was larger than normal.
After undergoing a series of tests, her parents, Toni and Stewart Mathieson, were given the devastating news their little girl had Niemann-pick disease type C and had just six months to live.
The disease stops the body from breaking down fats in the cells around vital organs such as the brain and liver.
Lucy defied the odds and lived until she was four years old, but tragically Toni and Stewart’s two children, Hannah died as babies.
Toni, of Washington, said: “When we had our first daughter back in 2003, we found out she had a very rare disease called Niemannpick 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
and
Samuel,
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.
TONI MATHIESON
were told we might have six months with our child. I obviously started to cry and the doctor asked me why I was crying.
“It was very difficult, not just to 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 that 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 started to progress and she started not being able to swallow. It affected her eyesight and she 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. The hospice, as well, 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 fell pregnant with Hannah and then Samuel, there was a one in four chance the babies would also 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. We 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 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 and 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, 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 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 on a professional basis in 2005 because despite the fact I have lost Lucy, her brother and her 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 events normally taking place on February 29.
Toni said: “I now run the organisation NPUK. On the rarest day of the year we have Rare Disease Day and 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’d like to hope that continues.”
A NEWCASTLE care home resident has said that holding hands with her daughter will be ‘like heaven’ after the Government’s plans to ease visiting restrictions was announced.
Winnie Storey, who has lived at Eothen Homes Gosforth for four years, sees her daughter once a fortnight – but currently the pair are only allowed to speak through the screen of a ‘visitors’ booth’.
The 96-year-old great grandma was one of many relatives to be overjoyed this week when the Government announced that care home residents will be allowed to hold hands with a regular indoor visitor from March 8.
Visitors will be required to take a coronavirus lateral flow test before entry and personal protective equipment (PPE) must be worn.
Residents will be asked not to hug or kiss their relatives, though hand-holding will be permitted. Guidance for care homes is expected to be published in the next fortnight.
Health Secretary Matt Hancock said he
was “pleased” that it would soon be possible for people to be “carefully and safely reunited with loved ones who live in care homes”.
Outdoor visits – as well as those inside pods or behind screens – will be able to continue, giving residents the chance to see more than just their nominated visitor.
The news was a thrill for Winnie, who said: “She was allowed to hold my hand when I was in the hospital before Christmas, but that’s been the only time since last March.
“It has been hard, and it must be very hard for her.
“But as long as we’re well, that’s the main thing.”
Winnie has four children, but only her daughter lives locally, meaning she has only been able to speak to her three sons over Zoom for the past year.
On how it would feel to be able to hold her daughter’s hand again, Winnie said, “Like heaven.”
But she added: “I’m looking forward to seeing my sons when I can as well.”
The Government met its target to offer all care home residents – along with social care and NHS staff, all those aged over 70 and the most clinically vulnerable – a vaccine by February 15.
Scientists believe the vaccines become effective after three weeks, meaning by March 8 all those who accepted a vaccine should have a good level of protection from Covid-19.
Winnie, who has had her first dose of the vaccine, said: “It was a relief but I think all the staff should have been done before us.”
On the hardest part of living through the pandemic so far, she said: “For me it’s been not getting out. Usually we’re allowed to walk around the grounds but we’ve not been able to do that.”