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Young parents Fred and Vicki Modell are overjoyed by the arrival of their first child, a perfect baby boy they name Jeffrey. But just months later, it becomes clear that something is wrong. Jeffrey is diagnosed with a rare disease that leaves him frequently sick and perilously susceptible to even the most common cold. He begs his parents to “Do Something” and though they desperately try, Jeffrey ultimately succumbs to his illness at the age of 15.
Out of their devastating loss, Fred and Vicki turn to their enduring love for each other to find the strength to fulfill their promise to Jeffrey and they resolve to ‘do something.’ With just $500 in the bank, the couple sets out in search for answers to what took his life. Guided by Jeffrey’s memory and the hope to help just one child, Fred and Vicki turn pain into purpose and end up touching the lives of parents and children all across the world. Millions of lives have been forever changed because of Fred and Vicki's determination to “Do Something.”
Welcome to JMF’s blog, Vicki’s Voice! We love hearing from people in our community, and our blog provides a meaningful platform for us to communicate and connect. Here on the blog, we share more personal stories about our programs, patient experiences, Foundation milestones, caregiver health, updates from the lab, and more topics to support our global PI community.
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As we continue our WPIW awareness work this week, we are delighted to share our recent interview with Jennifer Randle, a mother of two who lives with her family in the United Kingdom. Jennifer's youngest son, Charlie, was the first newborn in the UK to test positive for SCID as a result of newborn screening. Today, Charlie is a healthy and happy 18-month-old who loves to play outside! Please join us in thanking Jennifer for sharing her story with our community. We hope you enjoy reading about their experience and the importance of newborn screening!
Tell us about Charlie.
From the moment he was born Charlie has been a happy, cheeky, and very content little baby. A fabulous sleeper right from the start. He was born 6lb 5oz and came whizzing into the world in October 2021. He looked perfect! We took him home from hospital the next day to meet his big brother Alfie.
When was Charlie diagnosed?
Like all babies in the UK, Charlie’s midwife came to visit him at home on day 5 post-birth. He was thriving. Gaining weight through breastfeeding and very alert. His midwife took blood for his heel prick test. I thought nothing of this test and wasn’t worried about the result especially because Charlie is our second child and I naively thought he would be healthy.
10 days after the heel prick, I received a phone call from a consultant at our local children’s hospital. He explained that Charlie needed to have further tests ASAP, as he had tested positive for a condition called Severe Combined Immunodeficiency (SCID). Charlie’s dad, Dom, and I were extremely shocked and worried. We took Charlie to the hospital the following day. We tried not to read too much about the condition, so we were unaware at this point how seriously unwell Charlie was.
The team at Manchester Children’s Hospital was extremely helpful. They explained Charlie’s positive heel prick result and took him to have blood taken to confirm the SCID result. The team explained that SCID is a genetic condition whereby babies are born without a working immune system. Without treatment, Charlie would be unable to fight off bacteria and virus meaning he would get very sick and potentially die. The team explained what the next steps would be if Charlie was positive: he would need chemotherapy and a bone marrow transplant with the hope the new stem cells would engraft and give him a working immune system.
What was it like to find out the results of his SCID screening? How long did it take for him to receive treatment?
We both convinced ourselves Charlie would be fine, so went home to wait for the results. Charlie’s consultant called the same afternoon to confirm he had tested positive for SCID. The consultant explained that Charlie would need to be immediately transferred to the Great North Children’s Hospital in Newcastle to start transplant arrangements.
To hear the result of SCID and to learn he would need a bone marrow transplant was heartbreaking. I was advised to stop breastfeeding Charlie until my blood had been checked for viruses as it could potentially make him very sick. The more I read about SCID the more concerned I became. It felt like the whole world and everything in it could make my baby very sick. Strict isolation and good infection control measures were essential to ensure Charlie didn’t catch anything before his transplant.
The next day we travelled three and a half hours up to the Great North Children’s Hospital. Once we got there, we were instantly put at ease. The hospital ward there is also known as ‘The Bubble Foundation’ are extremely specialized in SCID. They taught us infection control for things such as diaper changing, started Charlie on prophylactic antibiotics, and showed us the air filtered room where Charlie would stay throughout the transplant process. The amount of hand washing on the ward to keep the children safe was insane, but essential.
Alfie and Dom had blood taken to check if they were a match for Charlie’s bone marrow transplant. Later that day we went home to strictly isolate until a donor had been identified. Unfortunately, Alfie wasn’t a match, but Dom was a good half match so could be Charlie’s donor.
Three weeks later Charlie was admitted to the hospital and started chemotherapy conditioning when he was just six weeks old. A week later, on Thursday, November 25th, 2021, Charlie had his bone marrow transplant. By some miracle we had managed to get him to his transplant infection free!
Thankfully, my bloodwork was clear, so I was able to continue to breastfeed Charlie. To our disbelief, Charlie maintained his happy, cheeky little self throughout the transplant. He suffered with mucositis and very bad sickness but still wanted to breastfeed throughout. We were extremely relieved when on day 11 post-transplant we were told Charlie’s neutrophils were starting to show, meaning the transplant was taking. By day 14, his cells had engrafted, and we were able to start taking him for short walks out of the hospital.
We stayed in the hospital for a couple more weeks following this to allow the cells to continue to develop. Charlie also needed time to recover and gain weight. All the sickness had meant he lost a lot of weight, and because he was a newborn, he didn’t have much to lose.
By some miracle, Charlie was well enough to be discharged from the hospital ward four weeks post-transplant on Christmas Eve. He moved into the parent’s accommodation with us, and we saw the outpatient team every other day for medicines and line flushes for four weeks.
One of the hardest parts for me and Dom was leaving our eldest son Alfie behind with his grandparents back in our hometown three hours away from the hospital. We wanted him to continue to attend school, but this posed a risk of virus and infection to Charlie, so we decided to limit our contact with Alfie throughout Charlie’s transplant. Not seeing Alfie was extremely hard, especially with it being Christmas time. I wanted to be in 2 places at once but knew it was the right decision to keep Charlie safe and well.
After two months in Newcastle, Charlie was discharged to go home. We were told his T cells wouldn’t show themselves for another two months at least, so isolation and infection control measures were essential. I moved myself and Charlie into my parent’s house to keep him safe, and visited Alfie at parks in the fresh air when I could. Charlie continued to be on prophylactic antibiotics and had biweekly immunoglobulin transfusions which contained antibodies to prevent him from getting sick.
How did you feel when he was cured?
It was huge relief when we visited the Great North Hospital in March 2022 at 120 days post-transplant to be told Charlie’s body was making his own T cells, which meant he would now be able to fight off viruses. His restrictions could be reduced!
By May 2022, Charlie was making his own T Cells and B cells, meaning the immunoglobulin transfusions and antibiotics could stop. In October 2022, just after his first birthday, Charlie had normal immune levels and was able to start receiving newborn vaccinations. If these had been given to Charlie as a baby, they would have made him very ill. Today, Charlie has just had his first live vaccine – a huge milestone!
Does Charlie have to undergo any treatments or visit any specialists today?
Charlie is now 18 months old, and he is your typical toddler. He attends nursery four days a week. He’s been swimming, visited farms and fed animals, played on the beach, slides down muddy slides, and loves to eat – even the bits that have dropped on the floor! He very rarely gets ill and hasn’t required any hospital stays since we got discharged.
Charlie is off all medicines and now only needs six-month reviews with the BMT team. He will have his blood levels checked yearly for life and we have our fingers crossed that his wonderful new T and B cells continue to work well for a very long time!
Why is it so important for you to share Charlie’s story with others?
The heel prick test to detect SCID at birth is only currently on trial in the UK and only in certain places. SCID started to be included in the heel prick test in some regions in September 2021. Charlie was the first baby detected via the heel prick test in the UK.
We will be forever grateful that the test was available. I had no idea I am a carrier of SCID. Without the test, Charlie would have got very sick before we realized there was a problem.