Meet Maddison Cox

Meet Maddison: our first 100,000 Genomes Project patient

Born with a range of unexplained health issues, six-year-old Maddison Cox is our first patient to join the UK-wide 100,000 Genomes Project, with her family keen to pinpoint the genetic causes of her symptoms and find new treatments for Maddison and others like her.

Maddison has been cared for and treated by doctors since she was born. Today, she lives with a number of health issues, including problems with her heart, bowel, kidneys, joints, eyes, hearing and development.

A real mystery

Doctors knew before she was born that Maddison would have a heart condition, which was spotted at a routine pregnancy scan. Yet, although she had an exact diagnosis for this at two-years-old, the root cause of her other health issues has remained unclear to doctors.

Consultant in clinical genetics, Dr Katherine Lachlan, first met Maddison as a newborn in 2008, and has since been part of a team trying to find answers for her and her family ever since.

“Maddison’s health is a real mystery. I’ve spoken with colleagues across the world and not one has seen a patient with the same combination of issues.” Dr Lachlan explains.

Finding answers

The Wessex NHS Genome Medicine Centre (GMC), based in Southampton is one of 11 centres delivering the £300 million national 100,000 Genomes Project. It aims to identify the underlying genetic causes of rare diseases and cancer by comparing the complete set of genetic information (the genome) from 100,000 patients and their family members.

Dr Lachlan and her team hope that the project will deliver this information for Maddison, to give a better picture of what the future holds for her and how to best support her.

“When Katherine told us about this project we were really keen to join – it’s a real honour that Maddison is their first patient.” Natalie Cox, Maddison’s mother, says.

Transforming healthcare

“This project has the potential to transform the future of healthcare, and for some participating patients, there will be a conclusive diagnosis for a rare, inherited disease that was not possible before.” Explains Professor Karen Temple, co-lead for the Wessex NHS GMC.

Maddison’s family is hopeful this will be the case, but believe their involvement is about more than her individual care, as Natalie explains: “Whilst we’d love a diagnosis for Maddison, we know this may not happen and it’s just as much about contributing to the bigger picture and hopefully being able to help other people and families in the future.”