Catherine cooking with her dad, Brian
Chromosomes are the structures in a cell which carry the genes that tell our bodies how to grow and function.
At least one baby in every 200 in the UK is born with a rare chromosome abnormality.
This means they have extra, missing, or re-arranged chromosome material.
16 year old Catherine has 9q34.3 deletion syndrome.
Her symptoms are constantly changing.
Her early physical difficulties were followed by behavioural and communication problems.
At one point she was being seen by more than 40 different specialists.
Catherine now has autistic catatonia. It cycles through months of catatonic stupor where she stays fixed in the same position, followed by months of mania where she may not sleep or even lie down.
Unique - The Rare Chromosome Disorder Support Group, is able to run the world's first 9q34.3 study day thanks to Jeans for Genes. It will be a chance for families and professionals to learn from each other.
The event will also raise awareness of the
conditions so that more children like Catherine can have the benefit of
a diagnosis and support from other families.
"Unique give us support, up to date family friendly information, and they helped put us in contact with other families around the world," said Catherine's mum, Eileen.
"We're very much looking forward to meeting some of them face to face and getting an idea of what the future might hold for our daughter."