Rare Diseases - How Best to Support People with Them

A rare disease is defined as a condition that affects fewer than one in 2,000 people. Some rare diseases are more widely recognised, such as muscular dystrophy or cystic fibrosis, while many others are far less familiar. They can affect people at any age, including children, adults and older people, and the type of support needed will vary depending on the condition and the individual. 

Some conditions may only affect a handful of individuals in the UK and are almost entirely unknown outside specialist medical fields. Because of this, many healthcare professionals will only encounter one case of a particular rare disease during their entire career, if they encounter it at all.

This lack of familiarity often makes diagnosis and support more difficult, which is why understanding the challenges associated with rare diseases is an important first step for care providers.

How many rare diseases are there?

It is estimated that there are around 7,000 rare diseases, although new conditions continue to be identified as research progresses. Many of these conditions are life limiting or terminal, while others may involve complex symptoms, unpredictable progression, or periods of stability followed by sudden decline.

Because so many rare diseases are not widely recognised, and new ones are still being discovered, care providers may support individuals whose conditions they have never encountered before. Developing awareness, asking informed questions, and understanding how to access specialist guidance are important steps in delivering safe and personalised care.

How common are rare diseases?

Around 80 per cent of rare diseases are genetic, although there are many other possible causes. Some conditions are inherited, while others are the result of spontaneous gene changes that occur early in development. For many rare diseases, the exact cause is still unknown, even after extensive research.

Although genetics play a major role, not all rare diseases are inherited. Some may be linked to environmental or lifestyle factors, while others develop following an infection or a significant health event. Common causes of rare diseases can include:

• Environmental factors, such as diet, chemical exposure or toxins
• Infections, including viral or bacterial illnesses
• Injuries or trauma
• Other health conditions, such as high blood pressure or autoimmune issues

Some people are born with a rare disease, while others may not develop symptoms until childhood or later in adulthood. The diversity of causes makes diagnosis complex and often time consuming, which is why awareness and early identification are so important.

Because many rare conditions are so uncommon, it can be difficult for people to find the support they need. Whether someone is looking for emotional help, practical guidance, or advice about managing symptoms, they may struggle to access reliable information or suitable services.

Unlike more well known conditions, there may be no dedicated support groups, charities or tailored advice available. This can leave individuals and families feeling unsure about where to turn or what steps to take next.

Lack of care for rare diseases

Some rare diseases are so uncommon that a GP or healthcare professional may only encounter a single case during their entire career. As a result, it is not unusual for rare diseases to take a long time to be accurately diagnosed. Current estimates suggest that many people wait around five years for a diagnosis, and some may never receive one at all.

Because specialist expertise is limited, the relevant clinicians may be located far from where the person lives. These delays in diagnosis and specialist referral can also delay treatment. While not all rare diseases are curable, there may be ways to reduce symptoms, improve comfort or slow deterioration.

People who do not yet have a diagnosis may also feel unsure about requesting additional support such as home care or respite care. While a diagnosis is not required to access care, it is common for individuals to feel discouraged or believe they must wait before exploring these options. Some may assume that a formal diagnosis is necessary before they can access care funding or support services.

The impact of rare diseases on daily life

Most people living with a rare disease report that it has a significant effect on their day to day life. Alongside physical symptoms, pain or cognitive difficulties, they may also face uncertainties and questions such as:

• How can I learn more about my condition?
• What is the likely progression?
• How much of my current life will change, such as work, hobbies or travel?
• Are there any treatments that could help me?
• What happens if the treatment stops working?
• Can I pass my condition to my children?

How home care can support people with rare diseases

• Support with bathing or showering
• Support with continence or toileting
• Help with dressing
• Dental care, shaving and haircare
• Meal preparation and feeding
• Medication support

Chris has first‑hand experience of supporting people with rare diseases, having cared for both of his parents. His mother lived with trigeminal neuralgia, a condition that causes sudden and intense facial pain, and his father had Berger’s syndrome, a rare kidney condition. These experiences shaped his understanding of how unpredictable and demanding rare diseases can be.

Caring for someone with trigeminal neuralgia

Trigeminal neuralgia can cause severe pain attacks with little warning. During remission, a person may be independent, but during a flare‑up they may need help with eating, washing, communication and medication. Because symptoms change so quickly, care needs vary from day to day. Flexible home care can help families manage these unpredictable periods and provide support with personal care, household tasks and attending appointments. Emotional support is also important, as ongoing pain can lead to isolation, anxiety and low mood.

Caring for someone with chronic kidney disease

Chris’s father required support with chronic kidney disease, which can cause tiredness, dietary restrictions and treatment demands such as dialysis. Home care can help people manage medication, prepare suitable meals and maintain independence. Care needs often change as the condition progresses, so plans should reflect medical advice and be reviewed regularly.

Why flexible care matters

Both conditions highlighted how challenging it can be for families to find care that adapts to fluctuating needs. Many people wait a long time for a diagnosis, and some are unsure when or how to access support. Community organisations, specialist healthcare professionals and experienced home care providers can all play an important role in helping people manage rare diseases safely and confidently.

Many people with rare diseases require high quality, personalised home care, and their needs can vary significantly over time. Some conditions have periods of remission when little support is required, followed by times when the person needs much more help. This can make it challenging to find care that adapts to changing circumstances.

Chris experienced this first-hand when supporting his mother, who had fluctuating care needs linked to a rare condition. Finding a care provider that could offer flexible, specialist support was very difficult, which highlighted a wider gap in the sector. This experience led him to establish Tiggo Care, with the aim of providing a more responsive and tailored approach for people living with rare diseases.

People living with rare diseases often face significant challenges, from delayed diagnosis to fluctuating symptoms and limited specialist services. These conditions can affect every part of daily life and often place a heavy emotional and practical burden on families. As a result, flexible, personalised and compassionate care is essential.

Care providers play an important role in helping individuals manage their condition, maintain independence and feel supported during periods of change. With the right understanding, the right approach and access to reliable tools, it is possible to deliver high quality care that adapts to each person’s unique needs.

Supporting people with rare diseases often requires flexible care plans, accurate record keeping and clear communication between carers, families and healthcare professionals. Access Care Planning helps providers manage these changing needs by bringing daily notes, care plans, risk assessments and tasks into one easy to use digital system. Carers can update information in real time, ensuring the whole team always has an accurate picture of the person’s current needs.

Access Care Planning stands out because it is designed for services that need to adapt quickly, offering configurable forms, mobile access for carers and clear audit trails. This supports consistent, person centred care, even when symptoms or support requirements fluctuate.

To see how Access Care Planning can help your service provide flexible and reliable support for people living with rare diseases, get in touch with our team or watch a demo today.