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Rory's story: finding answers by genetic testing

Little Rory Cross is one of only 14 people in the world with Chitayat syndrome, a very rare genetic disease diagnosed only after genome sequencing.

Information is power, genome testing gave us the answer.

Kirsty Cross, Rory's mum

At birth, Rory Cross had noticeable breathing problems and distinctive facial features. He was taken immediately into Neonatal Intensive Care Unit (NICU) at West Suffolk Hospital and observed closely.

An initial genetic test to look at Rory’s chromosomes was carried out but was inconclusive. Rory was then transferred to Addenbrooke’s for more specialist care, including advanced genetic testing.

The clinical team offered Rory’s family the opportunity of rapid genetic sequencing to provide further information about his condition. Rory's parents Kirsty and Andy Cross from Thurston, West Suffolk, agreed to the test and received the result in just over three weeks.

Having this early diagnosis has been really informative; it has helped us to get appropriate care quickly and made a huge difference for us as a family.

Andy Cross, Rory's dad

The sequencing test confirmed Rory has Chitayat syndrome (CHYTS), an ultra rare genetic condition characterised by breathing difficulties, a sunken chest, a shortened index finger and various minor distinctive facial features.

CHYTS occurs when a tiny portion of one of the ERF genes is changed and it’s function is altered. The individual's other ERF gene is unaffected.

Diagnosis of a newborn baby’s condition through rapid genetic sequencing of all of their DNA can provide answers for the family and clarity for the clinical team.

The early diagnosis of Rory's ultra-rare condition was a ‘great relief’ for his parents.

Rory Cross
Rory Cross.

We would be lost without our diagnosis for Rory. It made us understand what was causing his condition and the insight that the clinical team gave us was helpful so we knew what we could expect.

Kirsty Cross, Rory's mum

Rapid genetic testing involves a simple blood test, ideally compared with a sample of the blood from both parents.

The NHS East Genomic Laboratory Hub, based at Addenbrooke’s, arranges this test as part of the National NHS Genomic Medicine Service. This type of rapid test is currently performed and reported in another of the NHS Genomic Medicine Service flagship laboratories - the Exeter Genomics Laboratory.

Genetic testing like this will underpin care in the new Cambridge Children’s Hospital, the first of its kind in the East of England.

Rory is now seen at Addenbrooke’s for specialist respiratory and ear, nose and throat services.

He is already showing improvements in his general health and development, including his motor skills, and starting to catch up with where he should be.

Dr Nour Elkhateeb
Dr Nour Elkhateeb, specialist registrar in clinical genetics at CUH.

Rory is one of very few individuals within the UK with this condition. The confirmed diagnosis helps the clinical team make more confident clinical decisions knowing what they are dealing with.

Dr Nour Elkhateeb, Specialist Registrar in Clinical Genetics

The first case of CHYTS was described by Dr David Chitayat, Professor of Paediatrics, at the University of Toronto, Canada in 1993; it took him 25 years to identify more affected families and find the gene mutation.

It currently takes only a few weeks to establish a diagnosis that provides the parents and medical staff with information to guide them in the journey of planning the best medical support for their child.

This case is an example of the evolution of medical genetics and the fruitful collaboration between medical and molecular genetics.

Dr David Chitayat, Professor of Paediatrics, at the University of Toronto, Canada

Rory’s parents already have reached out to other families with CHYTS and started an Instagram page to help raise awareness.

Andy will also be running the London Marathon this year in aid of The Sick Children’s Trust, which gave Andy and Kirsty a ‘home from home’ and somewhere they could rest, at Acorn House, safe in the knowledge that they could be with Rory in minutes whilst he was at CUH’s paediatric intensive care unit.

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