Every year in the UK, around 6,000 babies are born who will go on to develop a syndrome without a name. Some of these patients will need years of intensive care, some will experience severe developmental delays and some may never receive a diagnosis.
Every patient is an individual, but most receive care based on a predictable pathway. So how can practice nurses help patients when then is no pathway to follow?
Becky Campbell’s four-year-old daughter Katie has an undiagnosed syndrome. ‘When they did the initial assessment, they came back with microcephaly, epilepsy, visual impairment and motor problems – but no reason why,’ she says.
Becky remembers the support she got from practice nurses: ‘Katie didn’t do very well having her bloods taken,’ she says. ‘The nurses asked us to come back next week instead.’
The practice nurses’ understanding made a big difference: ‘They remembered her, acknowledged who she was and said “let’s try it this way instead”.’ Practice nurses are in an ideal position to support undiagnosed patients and their families. However, treating these patients can present its own challenges.
Naturally, having a child with unexplained symptoms can be incredibly stressful for parents.
‘The biggest challenge in not having a diagnosis is getting beyond that,’ says Dr Larissa Kerecuk, Rare Disease Lead at Birmingham Children’s Hospital. She says nurses should recognise that even if there isn’t a diagnosis, ‘the patient still needs care for all their various symptoms and problems’.
While Dr Kerecuk understands parents’ desperation to find a label for their children’s condition and a prognosis for their future, she says practice nurses need to focus on practical solutions. ‘Look at what the issues are for the family right now, because you can actually help with a lot of different things there and then,’ she says.
Dr Kerecuk puts emphasis on the ‘knowns’ of undiagnosed cases: ‘Things like nutrition, hydration, still getting all the immunisations and still striving for what you would aim for with any child.’
Dr Una Adderley, lecturer in community nursing at Leeds University and a former district nurse, emphasises the importance of being guided by the patient or their families when treating rare or undiagnosed conditions.
‘The bottom line is that the patient and their carer are likely to know far more about their condition and their individual needs than their generalist nurse,’ she says. ‘So the most important thing is to listen to them and be guided by them, as it is very likely that they will be far more expert than you about their particular condition.’
Dr Kerecuk agrees. While parents can feel overwhelmed at times, they inevitably end up becoming the experts on their children’s conditions. ‘I always tell people, “you might be the expert in your field, but the parent is the expert in their child”,’ she says. ‘It’s teamwork.
They are part of the team and that’s how you’ve got to treat these parents.’
Working as a team
But practice nurses can offer much more than just the basics to undiagnosed patients. The charity Syndromes Without a Name (SWAN) was set up to support patients living without a diagnosis, as well as their families. These families can often feel isolated, running from one specialist to the next, with no one person to oversee the complex treatments involved.
‘Children who are SWANs tend to have a lot of different issues,’ says Becky. ‘If they could co-ordinate and communicate as a team more, that would be so much more helpful.’
Dr Adderley agrees. ‘It is also very important to develop a good working relationship with whoever provides the specialist service for that patient so that care is joined up,’ she says. ‘That way, you can meet the wishes of the patient to the best of the service’s ability and the desired treatment plan of the specialist.’
‘What our nurses try to do is join up the care for rare disease and undiagnosed patients,’ says Dr Kerecuk. ‘Getting acquainted with how things work in your area is really important, because then you’ll know how to refer,’ she says. ‘If nurses had a list of charities to pass on to families of disabled children, something like that might have helped in the early days,’ says Tina, whose son Jack has an undiagnosed condition (see Jack’s story, page 34).
A reliable port of call
Nurses in primary care can act as a single point of contact for overstretched families and direct them towards charities and organisations who can offer support. But their clinical knowledge can also act as a bridge between the family, secondary care and the wider world.
‘If you had a nurse who was aware of all the issues and all the people that were involved, and was in charge of that communication perhaps, Katie would get further more quickly,’ says Katie’s mother, Becky. ‘You’d feel more supported if they were aware of all the different parts of her problems from head to foot,’ she adds.
‘What I’m encouraging our nurses to do is to have a care plan that parents can take with them,’ says Dr Kerecuk. ‘So when they present to A&E, patients can say, “these are the relevant things”.’
Care plans generally include a summary of a patient’s conditions and medications, as well as the contact details of their specialists. ‘One of the most frustrating things is that you go to appointments
and they haven’t prepared or haven’t got Katie’s case notes,’ says Becky.
Having a clear care plan does more than save parents from repeating their child’s care history to endless consultants; it can also provide much-needed reassurance in the face of unbearable uncertainty. ‘We’d be copied into letters and be given diagnoses that sounded so scary you’d end up going on Google and frightening yourself to death,’ says Becky. When Dr Kerecuk copies parents into letters, she also makes sure parents have somewhere to turn if they’re confused: ‘I add a little note saying, if there’s anything you don’t understand, give us a call,’ she says.
Warmth and compassion are particularly important to families of those with undiagnosed conditions, and practice nurses are in an ideal position to provide this. ‘Ours is really good because her child has an allergy to cow’s milk protein, which is similar to Jack in the very early days,’ says Tina. ‘She was great – drawing on her own experience to give us advice on things we should be asking for.’
Caring for undiagnosed adults
Undiagnosed patients will have different needs throughout their lives. ‘Adults will be different from children,’ says Dr Kerecuk. ‘They’ll be thinking about their careers, their job, having children – whether they can do these things.’ She contrasts this with teenage patients, who often struggle with self-image and confidence and may try to hide their condition. ‘It all depends on what developmental stage they’re at and whether they’ve got learning difficulties,’ she says.
Undiagnosed patients present unique challenges for nurses. Nurses can be a familiar face who understands the patient as a whole, which is hugely valuable, as can knowing local charities and services that may be able to offer respite to a family beleaguered by chronic illness and doubts about the future.
‘The most important thing is to look at the child as a whole and also as a family. Don’t forget the effect it has on the rest of the family,’ says Dr Kerecuk. ‘Have lots of compassion and put yourself in their shoes and try and help practically as much as possible. Don’t get stuck on the fact you don’t have a diagnosis; just try to help with whichever bits you can. Sometimes it’s the smallest things that can make the biggest difference to a family.’
‘Don’t go into it with assumptions,’ says Dr Adderley. ‘Every patient is individual but these patients will be particularly so. They will be unlikely to fit into standard care. It’s about attention to detail and a focus on very individualised care.’