Baby's 'life-changing' early diagnosis in study

A mother has said the early diagnosis of her baby boy's rare immune condition through a genetic study has been "life-changing".

Elaine Hess's son Aidan was born at Royal Derby Hospital on 17 October last year, and, as part of the national Generation Study, a sample was taken from the umbilical cord and tested for more than 200 rare, treatable genetic conditions.

A few weeks later, she received a call to say a possible immune condition affecting the body's ability to fight infection had been identified.

Hess, from Mickleover in Derby, said: "My stomach flipped. You go to instant worst-case scenario."

The condition, called C6 deficiency, means Aidan is at risk of certain bacterial infections, such as meningitis, which can be very serious in young children, according to University Hospitals of Derby and Burton (UHDB).

Early diagnosis means the family know what symptoms to watch for and when to seek help.

Aidan is now receiving preventative antibiotics and additional vaccinations.

Without this new testing, it can take years for genetic diseases to be diagnosed, and these are often picked up only once a child becomes seriously ill.

Aidan's mother said she chose to take part in the study after hearing about it at her 12-week scan.

She said: "I felt so relieved that by simply choosing to opt into the Generation Study research, we had learned about Aidan's genetic condition early, which has had a life-changing impact on our family because we now know what to look out for, and how to make sure he is safe and supported."

She added: "He has been given the protection he might not have had in a normal infant situation."

After diagnosis, the family were invited to meet specialist professionals at Nottingham University Hospitals NHS Foundation Trust.

Dr Lucy Cliffe, consultant paediatrician from Nottingham Children's Hospital, who is leading Aidan's care, said: "Early diagnosis allows us to start treatments and give additional vaccinations if required, which is an important move towards preventing illness rather than just treating it when it occurs.

"This could make a real difference in protecting children with these rare conditions and improving their chances of a healthier future."

The diagnosis also means Hess's daughter is being tested.

Laura Johnson, lead clinical trials midwife at UHDB, said the study allowed families to access specialist care sooner, reduced hospital admissions, and avoided long wait times for diagnosis, which could have a big impact on lifelong health outcomes.

She added about one in 100 families received a "condition suspected result" from the testing.

The Generation Study led by Genomics England, in partnership with NHS England, offers genomic sequencing using a small blood sample, usually taken from the umbilical cord shortly after birth.

The study is screening 100,000 newborn babies in England, and UHDB is one of 48 NHS trusts taking part in the study.

The study does not replace the standard newborn NHS screening programme where newborns are given a heelprick blood test that checks for nine serious conditions, including cystic fibrosis.

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