Scott, pictured with his parents

The importance of an early diagnosis of SCID 

Rebecca’s family history and experiences show how early testing and diagnosis of SCID is vital so that prompt treatment by a bone marrow transplant can be given to save a child’s life.  

This is Rebecca’s story, as a mum in a SCID-affected family. 

‘We first became aware of SCID after the birth of our firstborn child, in January 2000. A seemingly healthy, beautiful baby boy, we named him Scott. All went as expected in the first few weeks, and we were happily enjoying and adapting to our new family life.  

At around eight weeks old, Scott developed a cough that didn’t improve, so we took him to the doctor’s surgery to seek further advice. It was determined that Scott may have been suffering from bronchiolitis (a common chest infection). We were given various medications and treatments to try and relieve Scott’s cough symptoms and get rid of any infections, but nothing seemed to help; his condition continued to worsen. 

Recurring infections and numerous visits to the doctor’s 

As weeks turned into months, we had numerous visits to the doctor’s, until Scott’s breathing deteriorated and we were finally referred to our local hospital, where he was immediately admitted to the children’s ward for further investigations. By this point, Scott had lost a lot of weight and was really struggling with his cough. After further tests and monitoring during his hospital stay, it was concluded that Scott was suffering from a severe chest infection, and he was treated accordingly. Within a week or so of treatment, he seemed to be improving and we were allowed to go home. Unfortunately, within just two days of being at home, Scott’s condition deteriorated, and we immediately returned to our local hospital.  

This time, due to Scott’s recurring infections, it was decided that he should have a blood test to check his white blood cells. Test results highlighted his lack of immunity, and we were transferred to Newcastle Royal Victoria Infirmary (RVI) and the fantastic care of the Bubble Unit. Unfortunately, the infections, not picked up earlier, had already taken hold of Scott’s fragile body. Despite the excellent care he received from the team in Newcastle, he passed away a few weeks later, at the tender age of seven months.  

Genetic testing for SCID 

Following Scott’s death, our family underwent genetic testing. Tests confirmed that I am a carrier of X-linked SCID. Therefore, I could go on to have other children affected by SCID. My sisters were also tested, with results revealing that one of them is also a SCID carrier. This means that for every boy conceived, there is a one in two chance that the child will have SCID.  

Early diagnosis of SCID is crucial so that life-saving treatment can be given 

Parents pictured with their sons Rhys and Owen. Rhys is on the left and Owen next to him was his bone marrow donor

We went on to have another two children. Aware of our family history of SCID, this time, we were offered a simple blood test for each child at birth. This simple life-saving test confirmed that our third son, Rhys, was SCID positive, and we were immediately transferred to the Bubble Unit at Newcastle RVI, where he was kept in a sterile and safe environment until he received a successful sibling matched bone marrow transplant at approximately five weeks old. He is now at high school, living his best life, and we will be forever grateful to the Bubble Unit and the incredible work they do.  

Our family history and experiences are a prime example of how early testing and diagnosis of SCID are key to providing early treatment and a successful outcome for all the family involved. We are eternally grateful to our firstborn, Scott, for highlighting this condition in our family, without whom we might not have Rhys or my nephew, who was also diagnosed at birth due to our family history and who, I’m happy to report, is also thriving. 

I can’t stress how crucial early diagnosis of SCID is to improve the life outcomes of infants born with this condition. That is why adoption of a UK-wide newborn screening programme for SCID is imperative.’ 

Posted August 2024