Baby boy receives life changing treatment after mum says yes to gene study
A Derby mum has praised the "life-changing impact" of being involved in a national newborn screening study at University Hospitals of Derby and Burton after it detected a rare genetic condition in her son, meaning he was able to access specialist care sooner.
Elaine Hess, whose son Aidan was born at Royal Derby Hospital, signed up to the Generation Study after hearing about it at her 12-week scan. The screening involves a non-invasive blood sample which is taken from the baby's umbilical cord blood after it is born, which is then used to analyse the baby's DNA or 'genome'.
The Generation Study is led by Genomics England in partnership with the NHS and looks at whether whole genome sequencing can help identify rare genetic conditions in newborn babies earlier. Nationally, the study aims to sequence the genomes of 100,000 newborn babies and screens for changes linked to more than 200 rare conditions that can usually appear in early childhood. Conditions that if caught early, can be improved and treated through the NHS. The study does not replace the standard newborn NHS screening programme.
For Elaine, who has a scientific background, taking part in this national piece of research felt like an easy decision. "I'm a scientist myself, so I was interested and comfortable with taking part, for me, it was just a no brainer."
A few weeks after Aidan was born, Elaine received a call from a specialist clinician explaining that the screening had identified a possible genetic condition called C6 deficiency, which is an immune condition that affects the body's ability to fight infection.
Elaine remembers the phone call, she said: "My stomach flipped. You go to instant worst-case scenario but, there was no time for panic because we got access to the consultant quickly, who explained Aidan's diagnosis and our questions were answered.
"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."
Through the NHS, Elaine and Aidan were invited to a detailed appointment with specialist professionals at Nottingham University Hospitals NHS Foundation Trust, where they talked through the condition, further testing, treatment and the steps the family may need to take to keep Aidan safe.
The early diagnosis has helped the family understand what symptoms to watch for and when to seek help. Because Aidan is at risk from certain bacterial infections, such as meningitis which can be very serious in young children, the family now know they need to seek urgent medical advice if he develops a temperature or signs of infection. He is also receiving preventative antibiotics and additional vaccinations.
The diagnosis has also supported the wider family, with Elaine's daughter now being tested and clinical genetics teams helping the family understand what the condition could mean for future children.
Dr Lucy Cliffe, Consultant Paediatrician in the Paediatric Immunology Service from Nottingham Children's Hospital, led on Aidan's care and commented "The potential to diagnose primary immunodeficiencies before a baby becomes seriously unwell with an infection is a significant advancement. 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."
UHDB is one of 48 NHS trusts taking part in the Generation Study, and one of three in the East Midlands alongside Nottingham University Hospitals and University Hospitals of Leicester. The Trusts are supported by NHS East Genomics, the regional genomic medicine service. At UHDB research and maternity teams are working closely together, with families, to explain the benefits of the study and make participation as straightforward as possible.
The teams at Royal Derby Hospital and Queen's Hospital Burton have successfully recruited over 3,800 local families since it opened in January 2025, with more families joining every day.
Laura Johnson, Lead Clinical Trials Midwife at UHDB commented, "The study allows families with children that have confirmed genetic conditions like Aidan to access diagnosis and specialist care sooner, therefore avoiding long waiting times which could have a big impact on lifelong health outcomes. Most families will receive a no condition suspected result, however, a very small number, about one in 100 will have a condition suspected result. Taking part in the study will contribute to research that could lead to new treatments and help future generations of children with genetic conditions get a healthier start to life - it really does make a difference."
The Trust is also working to make research more inclusive by raising awareness of the study across local communities and encouraging participation from groups that are often under-represented in research.
The study is voluntary, and families can withdraw at any time. Participants are consented to be part of the study for 16 years as researchers use the data to learn more about genes and health.
For Elaine, the message to other parents is clear. She said, "I'm just really grateful that I did take part. They may not find anything, but if they do find something, it gives you the information that you need to look after your child."
More information about the generation study
You can find out more information about the generation study here (opens in new window) >. You can also contact UHDB's generation study research team at uhdb.thegenerationstudyrdh@nhs.net at Derby or uhdb.thegenerationstudyqhb@nhs.net at Burton for any queries and to get more information.