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You don’t need to know every rare condition — you just need to know how to help.
Rare diseases are individually rare but collectively common and affect 3.5 million people around the UK. This means that no matter your specialty or career stage, you are likely to encounter patients affected by rare disease.
People living with a rare disease often experience similar challenges regardless of their underlying diagnosis. They typically experience long delays to diagnosis and challenges accessing the right patient support. This is partly because healthcare professionals have often not had the same opportunities to learn about rare disease when compared with many other areas of medicine. This can leave healthcare professionals unsure of how best to support people impacted by often chronic, multisystem, rare conditions or where they can go for guidance on their care and treatment.
It may feel overwhelming to know that there are over 6000 known rare conditions, with new ones being identified all the time. Fortunately, delivering quality care and patient support doesn’t require you to be an expert in every rare condition. By understanding the common features of the rare disease experience and knowing where to find reliable support for your patients, you’ll be better equipped to provide holistic, compassionate care that meets their individual needs.
Many people live with rare conditions for many years before receiving an accurate diagnosis. This ‘diagnostic odyssey’, as it is known within the rare disease community, is often marked by numerous investigations, misdiagnoses and trials of treatment, which can all contribute to negative impacts on physical, emotional and social functioning.
Although most rare conditions don’t have a targeted treatment yet, reaching a diagnosis is still vitally important. A diagnosis can open up additional support that can be more difficult to access without one, and helps individuals and families explain their experiences to other people.
Actively listen to your patient’s experiences and document their concerns. Don’t assume that just because your patient has been seen elsewhere that there’s nothing more you can offer. In fact, the siloed nature of our healthcare system means that many rare disease patients tell us that their diagnostic odyssey came to an end when one healthcare professional listened to their story from beginning to end.
It is not uncommon for patients impacted by rare conditions to be passed from pillar to post within the healthcare system without any one healthcare professional taking ownership of their case. By treating your patients as equal partners in their care and validating the challenges they report, you help rebuild trust in a system that may have previously failed them. Be open about what is known, what remains uncertain, and what next steps you could take together. Keep your clinical curiosity alive, and don’t hesitate to revisit a diagnosis when things don’t quite add up.
Understanding how to access genomic testing, and knowing when it’s appropriate, can be a critical step toward diagnosis for many patients. You can explore this further through NHS England’s Genomics Education Programme. There’s also a whole module dedicated to genomics in Rare Disease 101
If you work in general practice or paediatrics, you’re especially likely to encounter patients with rare conditions before a diagnosis is made. Familiarising yourself with the Red Flags of Rare Disease can help you spot key features in a patient’s history or presentation that may point to an underlying rare condition – without needing to memorise the diagnostic criteria for thousands of individual diseases
| Red Flag | Recommendation |
|---|---|
| Multi-system involvement (3 or more) | Utilise a holistic approach to assessment in clinical environments, consider the patient’s history and be aware of the most common systems affected by rare disease (CNS, Musculoskeletal, Sensory). |
| Genetic inheritance pattern | Consider the importance of family history in primary care settings and aim to understand the patient’s family history. |
| Presentation in both childhood and adulthood | Maintain awareness that rare diseases can present in both childhood and adulthood and do not rule out a rare disease simply due to a patient’s age. |
| Difficulties at school e.g. especially absences, difficulty participating in physical education and bullying/social isolation | Raise awareness amongst teachers and educators of these signs and how to recognise them. Provide advice on how educators can support parents to seek clinical assessment. |
| Multiple specialist referrals | Consider the patient’s history of engagement with healthcare providers. If a patient has seen multiple specialists and has not yet had a diagnosis, consider a rare disease. |
| Delayed diagnosis | Consider the possibility of rare disease diagnosis in a patient who has not received a diagnosis after one year of seeking medical support for a health issue. |
| Misdiagnosis | Consider the possibility of rare disease diagnosis in a patient who has received several misdiagnoses. Do not rule out a rare disease simply because a patient has an established diagnosis of epilepsy or arthritis; given that these may be secondary processes. |
Receiving a rare disease diagnosis can bring with it many mixed emotions for individuals and their families. Every experience will be unique and each person’s reaction will be informed by their personal context. People may feel relieved, upset, anxious or angry when receiving a positive, negative or uncertain diagnostic test result.
While it’s natural for your patients to experience difficult emotions, there are things you can do to help ensure they feel supported during the diagnostic process.
How and when you deliver potentially life-changing diagnostic news is important. Aim for an in-person appointment where you can provide support and clarity. Encourage your patient to bring a trusted friend or family member along to offer emotional support and help process the information shared.
Every person exists in their own unique set of circumstances and a rare disease diagnosis may have implications on their health, work, relationships and more. Allow your patient time to ask any questions they might have and ensure they know who to contact with additional queries they may have after the appointment. A follow-up plan and named contact can make a big difference in how supported they feel.
Many patients will have never met anyone else with their condition – or even heard of it – before diagnosis. By connecting them with the relevant patient advocacy group, you can link them to people who understand their experience and who can offer invaluable peer support and advice. These groups often have excellent resources for professionals, too. You can search for patient advocacy groups through Genetic Alliance’s UK or on Orphanet. For children and young people living with suspected but undiagnosed rare conditions, SWAN UK offers vital support to families.
People with rare conditions tell us that the challenges don’t end with a diagnosis. Most rare diseases are chronic, multisystem conditions that require long-term input from a wide range of health and social care professionals.
People living with rare conditions frequently face fragmented care that is spread out across time and geography. You can play a vital role by:
Living with a rare condition can significantly impact mental health, with 85% of people reporting a negative effect on their emotional wellbeing. Ask your patient how they’re doing and let them know about available support. Rareminds offers a range of resources through their wellbeing hub and offers counselling services to those impacted by rare disease.
aking part in research can offer hope and a sense of purpose for many people with rare conditions. Use Orphanet to check if there are relevant research studies or clinical trials your patient could be eligible for.
Chronic illness often has broad implications on a person’s occupational and social functioning and financial circumstances. Gene People offers a range of advice on benefits, grants, and social care for people impacted by rare diseases.
The Rare Disease Hub on the Genomics Education Programme website is a great place to start. You’ll find a wealth of resources for healthcare professionals as well as information you can share with patients and families.
Find out more about how to deliver the best care and patient support to those impacted by rare disease with Rare Disease 101 – our free e-learning resource for healthcare professionals. You’ll learn the fundamentals of rare disease through eight flexible modules and receive a certificate of completion for your efforts. Enroll today to complete the course at your own pace.
Did you know we also offer face-to-face training sessions for medical students and resident doctors? Make a training request here (link when live) and help your colleagues to become Rare Aware!
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