Syndromes without a name (SWAN)

Some rare conditions are so rare that it is difficult to diagnose them, either because we haven’t developed the right test yet, or because we do not fully understand why they develop. We call such conditions syndromes without a name (SWAN). Without a diagnosis, people can find themselves isolated, without reliable information or community support.

SWAN is not a diagnosis itself, but a collective term for conditions where the exact cause and diagnosis remain unknown. Such conditions are often thought to have an underlying genomic basis.

Undiagnosed conditions are usually observed in children and young people. Some may present with learning difficulties, while others may have physical disabilities without learning difficulties. Many children will have complex medical needs involving both physical and learning disabilities. Every SWAN is unique and affects each person differently.

There are several reasons why a rare condition may remain undiagnosed:

1. Some conditions are so rare that they may never have been seen before, meaning that no test is available.
2. Very rare conditions, while previously documented, are so uncommon that the vast majority of healthcare professionals will never have encountered them, making recognition and diagnosis much less likely.
3. A person could have an unusual presentation of a known rare condition, making diagnosis more challenging than usual.
4. Current diagnostic technology may not yet be advanced enough to detect the underlying cause of a person’s condition.
5. We might be unsure whether or not genetic variants identified via genomic testing are the cause of the condition in question. These are known as variants of uncertain significance (VUS).

Many families wait years for a diagnosis, and some may never get one. The ‘diagnostic odyssey‘, as it is known, means years or even a lifetime of unknowns and unanswered questions, with no definitive explanation as to the cause of a person’s symptoms. Around half of children with learning disabilities and 60% of those with complex health problems that have been present from birth don’t have a definitive diagnosis.

Coping with unanswered questions such as “what is wrong with my child?” or “why am I always ill?” can have a huge impact on physical and mental health. An understanding of prognosis is not possible without a diagnosis, and this leads to questions like “is the condition life limiting?”, “will the symptoms get worse?” and “are others in the family also affected?”.

You can listen to author and illustrator Sarah Lipsett speaking about her experience of growing up with an undiagnosed rare condition (later diagnosed as Moyamoya disease) on the Medics for Rare Disease website.

A diagnosis is often the key to unlocking access to social support, educational support and effective medical care and treatment. Not having a diagnosis can therefore create an extra set of challenges for patients and their families.

Run by Genetic Alliance UK, the SWAN UK specialist support network is the only one available nationally for families of children and young adults affected by a syndrome without a name. You can find lots of useful information on their website and they offer support around the clock via online forums for registered members.

The advocates at SWAN UK say that people often assume that an undiagnosed condition is not as serious as a named condition or that it will improve in the future. The term SWAN acknowledges an individual’s medical condition and conveys that it is not sufficiently well understood yet. It provides the patient and family with a tool for communication and an identity that they can share with others experiencing similar challenges. It also offers hope that, one day, research will be able to shed light on each syndrome without a name.

Sharing the experience of having an undiagnosed condition can be life changing. As one parent puts it: “I’ve been a member of SWAN UK for three years now. Our children’s issues are very different – there are children who are seriously medically complex, children who are affected emotionally or intellectually. Yet despite the differences, there’s a unique bond that holds us all together.”

Seven-year-old Amelia’s story highlights the numerous barriers that often face children with an undiagnosed medical condition. She has received many individual names for the symptoms that affect different parts of her body, but no unifying diagnosis that explains them all.

From birth, Amelia struggled to maintain her body temperature, and was referred to Great Ormond Street Hospital, where she saw numerous specialists and underwent extensive tests. But despite these investigations, the source of her symptoms has never been identified.

For Amelia’s mother, “the best doctors are the ones who can simply admit that Amelia’s medical picture is odd”.

Read Amelia’s full story in the Rare Disease UK report, The Rare Reality (page 20), where she also highlights the difference that involvement with SWAN UK has made to their lives.

It is important to provide holistic care and support, even if this cannot be disease specific. Many patients and families have reported that they struggle to access certain services, such as respite care or therapies, without a confirmed diagnosis. Just like anyone else with a medical condition, someone with a SWAN needs a care plan and regular medication and mental health reviews. They should also be informed about opportunities to participate in research and families should be offered appropriate family planning support. The best way to support any family is to listen to them and be honest if the whole picture is not clear.

Britain’s first SWAN clinic opened in Wales in 2022 and offers holistic care to people living with rare conditions who lack a concrete diagnosis.

Signposting undiagnosed patients to SWAN UK is invaluable in helping them access a supportive community where they can share their experiences with others who understand what they are going through, for which there is no substitute.

• A syndrome without a name (SWAN) is not a diagnosis, but a collective term for conditions that we have not been able to diagnose yet.
• Every SWAN is different, but most people affected are children and young people with complex medical needs.
• Patients with an undiagnosed condition, and their families, need holistic care despite the lack of a formal diagnosis.
• SWAN UK can offer invaluable support as the only dedicated support network for the families of children and young people impacted by undiagnosed rare conditions.

For clinicians

• Genetic Alliance UK: The Rare Reality – an insight into the patient and family experience of rare disease
• Medics for Rare Disease: Syndromes without a name (SWAN)
• SWAN UK

References:

• Aldiss S, Geoghegan S, Gibson F and others. ‘We don’t know what tomorrow will bring’: Parents’ experiences of caring for a child with an undiagnosed genetic condition. Child: Care, Health Development 2021: volume 47, issue 5, pages 588–596. DOI: 10.1111/cch.12866
• Evans J, Shortland G, Spencer M and others. ‘6727 The Syndrome Without A Name (SWAN) Clinic – Shortening the Diagnostic Odyssey‘. Archives of Disease in Childhood 2024: volume 109, issue 1, pages A404-A405. DOI: 10.1136/archdischild-2024-rcpch.636

For patients

• Contact: Information and advice
• Genetic Alliance UK: Seeking a rare disease diagnosis for children
• SWAN UK