Undiagnosed Children's Day

Roald Dahl CMC SWAN Nurse Specialist Lucy Michaels is part of a nursing team supporting hundreds of babies and children whose condition is so rare it doesn’t even have a name.  When a baby or child falls seriously ill, the stress can feel immense and overwhelming. For thousands of parents, though, that stress is made worse by no one knowing what is wrong. Some of them never receive a diagnosis.  Today [April 24] marks Undiagnosed Children's Day and its bid to raise awareness of SWAN or ‘syndromes without a name’.  Lucy Michaels knows this is no small task. Many in the healthcare world may not have come across this issue or know the term SWAN, and they may have little understanding of how a search for a diagnosis impacts families struggling to make sense of what is happening. In fact, many of those families, feeling so alone, are astonished when they see the numbers sharing their journey. But figures show that each year as many as 6000 children are recognised as having syndromes without a name after being born with or developing a condition so rare that doctors can’t diagnose it, explains Lucy.  “Many of these young patients have complex medical conditions which require the care of multiple specialists – these patients and their families might be seeing up to 20 hospital teams as they take their baby or child for ongoing tests and appointments across each week and month,” says Lucy.  “Our specialists are amazing, but given the complex nature of SWAN, parents and carers may be advised about just one issue impacting on their child at each appointment – perhaps in cardio and respiratory, neurology or haematology and and other specialist areas. "Families often feel lost in the system", says Lucy. "They can find it impossible to explain their child's illness to families and friends outside the hospital or connect to communities of patients inside it who are linked to a specific diagnosis. The term 'diagnostic odyssey' is often used and, in reality, describes a lifetime of unknowns and unanswered questions." At Great Ormond Street, Lucy’s colleague Anna Jewitt became the first SWAN Clinical Nurse Specialist when she took on a role at GOSH 10 years ago, established in post by Roald Dahl’s Marvellous Children’s Charity to co-ordinate and help support patients and families on this most stressful of healthcare journeys. The charity has now established Lucy in post to work with Anna as her growing caseload becomes more recognised within the Trust.  “We are often the most familiar and trusted face in the hospital for these families,” explains Lucy. “They are meeting so many specialist teams, and not always the same person within each of those teams, so they regularly have to tell their story over and over again.”    “Roald Dahl Nursing is a different way of working, and it involves a lot of listening. Families benefit from having one person they can talk to and connect with as they navigate so many appointments. They need to know that someone understands their story - what has happened and when, what doctors are telling them, what they are reading about possible diagnoses, how they are coping at home, their fears for the future and so on.  “We can be with them in appointments and talk to them afterwards. We stay with them on that journey and get to know the child so we can bring our knowledge of them to specialist teams, helping join up the dots across the appointments, and taking some of the fear and stress off the families at the same time.”  Roald Dahl Nurse Specialists, including SWAN Nurses and other Roald Dahl Nurses specialising in complex medical conditions, neuromuscular conditions, sickle cell and epilepsy, are supported into roles in NHS Trusts by the charity to co-ordinate care for seriously ill children and support families across childhood. The charity reports there are now over 250 Roald Dahl Nurses in NHS Trusts across the UK so far, and as part of its 35th anniversary initiatives, it has just launched a fundraising campaign to establish more to meet a growing demand. The charity has also spearheaded new work to help identify and secure earlier support for children with medical complexities, with full reports on this news in the latest issue of Nursing Times and on the charity website.