My family and SCID by Jennifer

Jennifer is mum to Charlie. Her story shows the vital importance of newborn screening for severe combined immunodeficiency (SCID).  

Seeing Charlie in his preschool uniform and hearing him sing away to his new teachers today, I feel immensely proud. If you met Charlie today, you would have no idea of the turbulent start he had to life.

Charlie’s start to life and the heel prick test for SCID

Charlie was born in October 2021 after an uncompleted pregnancy. He was tiny and beautiful. We settled into life as a family of four, with Charlie’s elder brother, Alfie, thrilled to have a new little playmate. Charlie was a very content baby; he ate well and slept well. We took him out and about in his pram and he quietly snoozed the day away.

When Charlie was five days old, the midwife came to visit us at home. She did the routine heel prick test, which, she explained, checked newborns for rare diseases. Being a second-time mum, I was aware of the test and naively thought that it was probably a waste of time because Alfie was fine and Charlie looked perfectly healthy.

The phone call confirming that Charlie had screened positive for SCID

Two weeks after the heel prick test I got a phone call telling me that Charlie had tested positive for a condition called SCID and that he needed to go to hospital for further tests. We were all extremely confused. Charlie was happy and healthy; he didn’t look like he was poorly. We had no family history of SCID, genetic conditions or infant death. So, we assumed the test result must have been wrong. We took Charlie to the hospital with this mindset, feeling worried but hoping for the best.

At the hospital, we met the immunology team and learned that SCID had recently been added to the newborn screening test, as a pilot study, in September 2021, and that it was only on trial in certain parts of the country, with Manchester being one of them. We learned that babies born with SCID are extremely vulnerable to catching viruses and infections because their immune system does not function fully. Treatment for SCID is isolation, chemotherapy and a stem cell transplant. The team explained that, if further tests confirmed that Charlie did have SCID, then his early diagnosis, as a result of the newborn screening, gave him a good chance of a successful transplant and survival.

Isolating and planning for a stem cell transplant

Charlie had blood taken and we went home to wait for news. The SCID diagnosis was confirmed later that day and we learned that Charlie would need treatment as soon as possible. We spoke to the hospital team and the quest to find Charlie a donor for a stem cell transplant began immediately. The team recommended that we all isolated at home to reduce the chance of Charlie catching an infection that his little body wouldn’t be able to fight. We isolated for five weeks at home, with family bringing everything we needed to our front door.

Charlie’s stem cell transplant at the Great North Children’s Hospital in Newcastle

Mid-November 2021, we found out that Charlie’s dad would be a good stem cell donor match and that a bed had become available for Charlie to start treatment. The hardest part was saying goodbye to our other son, Alfie. We decided that it would be best for him to stay in Manchester with his grandparents while we got Charlie through the transplant in Newcastle. By staying in Manchester, Alfie could continue to go to school and live a normal life without further restriction and isolation.

We took Charlie to the Great North Children’s Hospital in Newcastle, which specialises in SCID. The hospital ward has individual air-filtered rooms to protect children undergoing a transplant. Charlie had a week of chemotherapy to prepare his body for the transplant. Then, on 25 November 2021, he had his stem cell transplant. Over the following weeks he remained in strict isolation on the ward while we waited for the cells to engraft. After two weeks, we started to see that things were heading in the right direction, and we were finally able to take him on short walks off the ward. Charlie was discharged from the ward on Christmas Eve – four  weeks after the transplant. We lived in a hotel close to the hospital for another month and attended regular outpatient appointments, before heading home to Manchester in January 2022.

Throughout the transplant process, Charlie suffered with sickness, mucositis (a sore and inflamed mouth or gut) and weight loss, which was extremely difficult to watch him cope with. Once his immune system started to develop, however, he quickly began to recover and thrive. By the time Charlie turned seven months old, his immune system was working well and all social restrictions could be lifted. We were able to take him to baby classes and to visit friends and family, and he could play happily in close contact with Alfie.

Charlie now

Today, Charlie is almost three and lives a very happy and healthy life, completely unaware of everything he went through. He has been attending nursery since he was 18 months old, and is thriving socially and developmentally. This year, he went on an aeroplane for the first time, to Spain, and he absolutely loved the whole experience. His immune system is working very well and he rarely gets poorly.

Medically, Charlie does not require any regular medications. He is fully vaccinated and has an annual check-up at the hospital.

The importance of the SCID newborn screening programme

After finding out that Charlie had SCID, we discovered that he was the first baby in the UK to test positive for the condition through newborn screening. We learned that, normally, babies in the UK would get very poorly before finding out that SCID was the reason why, and that in a lot of cases the baby would die. Therefore, I feel so grateful every single day that our area of the country was involved in the pilot SCID newborn screening project when Charlie was born. I would hate to know what Charlie’s experience might have been if he hadn’t had the test.

Charlie is a shining example of what can be achieved when a diagnosis is given early. This, alongside the incredible knowledge, care and quick action he received from both Manchester Children’s Hospital and the Great North Children’s Hospital, means that he can walk into preschool today ready to make friends and learn, just like all the other three-year-olds in the room.

We need the UK to fully adopt newborn screening for SCID as soon as possible to save children’s lives.

Posted September 2024