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.