Niemann-Pick disease type C infected only 110 people in British history.
Three of them were children Tony And the Stuart Matheson. In the first daughter Lucis At birth, they were told that she would not live more than six months.
However, Lucy overcame the odds and lived until she was four years old. But it wasn’t an easy road.
She had congenital hepatomegaly, splenomegaly, and jaundice. She was also unable to walk or speak because of the disease, which is a metabolic genetic disease that belongs to the group of lysosomal diseases.
In short, this means that the body does not break down fats into cells around vital organs.
– It wasn’t in our plan, it was in the least shocking. The way we found out the prognosis was also not good. We were told we would probably have six months with our baby and of course I started crying. Then the doctor asked me why I was crying, Tony says.
It further explains that the way families are given such a diagnosis is an important aspect. At first, she and Stewart had difficulty pronouncing the name of the disease at all.
– It looked so wrong and we couldn’t see how this would develop in our beautiful daughter that we had been waiting for so long.
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At the age of two, Lucy was taken over by illness. She did not have the opportunity to learn to walk nor did she have the ability to speak – something that did not stop her from feeling happy.
From the age of two, the disease began to develop, which means that she could no longer swallow and was not aware of her surroundings. This affected her eyesight, Tony says, as she was unable to walk and needed 24-hour care.
As if that weren’t enough, Lucy often had pneumonia and had to go to the hospital several times.
I walked out of the house surrounded by family
The family took care of her at home with the help of the municipal welfare team they appreciate today.
I wouldn’t be here without their support at the time. She passed away in her home with her family, so we are so happy we were able to.
I lost two more children
Tony and Stuart had two children by 2004, Hannah And the Samuel. The odds were one in four that they would also inherit the disease – which they did.
However, they didn’t last as long as Lucy but they actually died as children.
We could have chosen to run a lot of tests, but we chose not to do so and hope you won’t be affected. Unfortunately, they did.
He works as CEO
After Lucy’s birth, her parents become familiar with the Niemann-Pick UK charity, which helps provide support, information and advice to affected families.
They turned to the organization and started working with them and today Tony is CEO of Niemann-Pick UK Chronicle Life.