Rare Diseases - How best to support people with them

What is a rare disease?

A rare disease is one that affects fewer than one in 2,000 people.

Some rare diseases are more well-known than others. Most people have heard of conditions such as muscular dystrophy or cystic fibrosis, but others may affect only a few people and be almost entirely unknown. Many are so rare that a healthcare professional will only ever come across one case during their career.

 

How many rare diseases are there?

It is estimated that there are around 7,000 rare diseases, although new conditions are still being discovered. Many of these are life-limiting or terminal conditions.

 

How common are rare diseases?

Although the conditions may be rare individually, there are a lot of people who live with a rare disease in the UK. One in 17 people will develop a rare disease during their lifetime – this is around 3.5 million people across the UK, and around 30 million throughout Europe.

 

What causes rare diseases? Are all rare diseases genetic?

Around 80 per cent of rare diseases are genetic, but there are a variety of other causes.

Some rare diseases may be caused by:

• Environmental factors, such as diet or chemical exposure 
• Infections
• Injuries or trauma
• Other health conditions, such as high blood pressure

For many rare diseases and conditions, the exact cause is unknown.

Some people are born with a rare disease, whereas others may develop in early childhood or later in life.

 

Rare disease support

Because many of these conditions are so uncommon, it can be hard to find support. Whether someone is looking for emotional or practical support, they may struggle to find help.

Unlike more well-known conditions, there may not be support groups, charities, or tailored advice for people living with rare diseases. This can make it difficult for people living with these conditions, or their families, to know what the best course of action might be.

 

Lack of care for rare diseases

Some diseases are so rare that a GP or other healthcare professional may only come across one or two cases throughout their entire career. Because of this, some rare diseases can take a long time to be accurately diagnosed – five years, on average. Some people may never receive a diagnosis.

As some rare diseases are so uncommon, there may be few healthcare professionals who are experts – and it’s possible that they are far away.

Delays in diagnosis and finding an expert can also mean significant delays in treatment. While not all rare conditions are curable, there may be ways to alleviate symptoms or slow a decline.

Without a diagnosis, many people may also not feel like they can ask for additional help, such as home care or respite care. While you don’t need a diagnosis to receive care, it’s not uncommon for someone in the process to feel discouraged or not be aware of their options. Some people may think that they need to wait for a diagnosis so that they are eligible for care funding.

 

The impact of rare diseases

Most people living with a rare disease would agree that it makes their life much harder. In addition to any physical limitations, pain or cognitive problems, they may have additional worries, such as:

• How can I find out more about my condition?
• What is my prognosis?
• How much of my current life will I lose – work, hobbies, travel?
• Is there a treatment plan that will work for me?
• What if this treatment stops working?
• Could I pass this condition down to my children?

People who have developed a condition or been diagnosed in later life may have big decisions to make. They may need to move to a more accessible property, or, if their condition is genetic, make difficult decisions about having children. Around 70 per cent of people living with a rare disease (and their carers) reduce their work hours or stop working entirely.

In addition, rare diseases can have a devastating impact on entire families.

Family members may make major decisions based on their loved one’s condition. Some people may leave a job or education to become a full-time carer. Their loved one may need personal care, support with attending medical appointments, or a lot of emotional support.

 

Home healthcare for rare diseases

I set up Tiggo Care because I was aware of how difficult it was to find home care for people with rare diseases and fluctuating needs.

Many people with rare conditions need personal care. Many uncommon diseases are life-limiting or leave the person with complex needs. They may be in pain or unable to carry out usual daily activities such as washing or dressing. Some people may need support because of memory problems or learning difficulties.

Personal care for people with rare diseases may include:

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

For some people, family members can carry out many of these tasks. However, this may not always be an option, especially if the condition is unpredictable or the person lives alone. However, there are many home care agencies that can support people with rare diseases.

Home care can support family members to go back to work or continue their education, look after children, or just take some time for themselves.

For people who have not received care from family members, but who are beginning to struggle, home care can be a valuable tool for staying independent and continuing to live in their own home.

Some people may need just a short visit a couple of times a week, whereas others may need more regular support – perhaps even live-in care. Depending on the person’s condition, their care needs may fluctuate. 

 

My experience of caring for people with rare diseases

Both of my parents had rare diseases. My father had a rare kidney condition called Berger’s syndrome and my mother developed a condition called trigeminal neuralgia.

 

Caring for someone with trigeminal neuralgia

Trigeminal neuralgia is a rare condition characterised by severe and sudden attacks of facial pain. The pain can come on unpredictably, and may last for seconds, minutes or longer. It might affect one side of the face or both.

People with trigeminal neuralgia may have attacks of pain hundreds of times a day, in severe cases. For some people, there is still an aching, burning or throbbing sensation even between attacks.

Supporting someone with trigeminal neuralgia can be hard, because the condition is so unpredictable. There can be periods of remission between attacks, meaning that care isn’t always needed. However, when the pain returns, the sufferer may need support with everything from feeding to washing.

 

Trigeminal neuralgia home care

Because of the condition’s unpredictability, family members may not always be able to provide care for someone with trigeminal neuralgia. As the condition can have periods of remission or vary in severity, someone living with trigeminal neuralgia may not need home care every day, and family members may have other commitments.

However, during a flare-up, the sufferer may need support with all kinds of daily activities, including:

• Preparing food and eating
• Washing, including dental hygiene
• Shaving or applying makeup, if desired
• Medication reminders or administration

If the pain is severe enough to stop them doing other activities, they may also need help with housework, shopping or other tasks.

For some people, speaking becomes difficult or impossible, and they may need support to make phone calls or attend medical appointments.

Depending on the person’s overall health and any other conditions, they may also need other personal care support, such as support with continence care, dressing or wound care.

 

Trigeminal neuralgia care plan

A care plan for someone with trigeminal neuralgia will need to be flexible. If their condition is in remission, they may not need any support. However, during a bad period, they may need care throughout the day and night.

People providing care for someone with trigeminal neuralgia will need to be prepared for their support needs to change, and their personalised care plan may need to be updated regularly.

The care plan will be developed as a result of talking to the person with the condition, their family members and possibly other healthcare professionals involved in their care.

Most people with trigeminal neuralgia will be under the care of at least one doctor, and the care plan will need to follow their guidance. Many people with the condition will take prescribed medication, and it’s important that the care plan includes this.

 

Barriers to successful care for trigeminal neuralgia

Unpredictable conditions can be hard to manage in terms of personal care.

Unlike people who need regular care visits each day or week, people with trigeminal neuralgia may have periods of being able to manage all of their own needs when they are in remission. They may only need support during a flare-up. Many care agencies are not set up to support people in these circumstances.

The condition commonly starts between the ages of 50 and 60. If the person with the condition is otherwise healthy, they are unlikely to be aware of what options are available to them for personal care at this relatively young age. There is still a strong perception that care is something for older people.

In addition, it can take a long time to get an accurate diagnosis of trigeminal neuralgia, which means that the patient may not be able to be signposted to support services.

 

Support for trigeminal neuralgia patients

Living with trigeminal neuralgia can be incredibly difficult for someone’s mental health. The triggers of pain attacks can include many activities that most people do daily, including talking, yawning, brushing your teeth, eating or smiling. This may mean that people feel tempted to neglect themselves, avoiding eating or going out, for example. During particularly bad periods, my mother was unable to talk or eat, and didn’t want to go out.

We know that people with long-term painful conditions are likely to experience mental health problems such as depression and anxiety. It’s important to encourage people with these conditions to seek help. This might be by accessing counselling either on the NHS or privately, talking to friends and family, or trying medication under the guidance of a GP or psychiatrist.

There are support groups specifically for trigeminal neuralgia, as well as general support groups for chronic pain conditions. Many patients may find it helpful to talk to people who are living with the same condition, even if their experiences are different.

 

Kidney disease care

Chronic kidney disease means that a person’s kidneys are not working well. It can get worse over time, and some people may need a kidney transplant if their kidneys stop working entirely.

There are a variety of different conditions that may cause chronic kidney disease, and they can affect people of all ages.

Some people may need dialysis, a procedure that mimics the behaviour of the kidneys by removing waste and excess fluid from the blood. Dialysis can be performed at home or in a hospital or clinic setting. Patients may need to have dialysis several times a week or even daily, depending on the severity of their condition and the type of dialysis. This can be very restricting.

Depending on their kidney function and overall health, some people may need a transplant. This can also be difficult to process.  

 

Kidney disease home care

Many people with chronic kidney disease may need care at home from a professional.

Living with kidney disease can be difficult. People with chronic kidney disease may need to make a variety of lifestyle changes and take regular medication. The illness and medication side effects might make them very tired, and they might benefit from a little extra help at home.

Home care can help people stay independent, and in many cases can enable them to continue living in their own home, rather than needing to move into a care facility. It can also sometimes help avoid hospitalisation, or allow for quicker hospital discharge.

Home care for someone with kidney disease may include:

• Preparing kidney-friendly meals, and supporting with feeding if necessary
• Supporting the person with drinking, taking into account any fluid restrictions
• Help with toileting or continence care
• Medication support
• Supporting with dialysis, if necessary

Depending on the person’s general health and other abilities, they may need additional care and support such as help with bathing, dressing or foot care.

Additional care may be needed at times if the person has intensive treatment, or while recovering from a transplant. Some people who do not generally receive home care may need post-operative home care.

 

Chronic kidney disease care plan

People with chronic kidney disease will be under the care of a medical team. A care plan should take into account all of their recommendations, including guidelines about food, fluid restrictions, medication and activity.

There are many types of kidney disease, and everyone will experience their own condition differently. This means that there’s no one-size-fits-all kidney disease home care.

In addition, the condition can often get worse over time. People providing care for someone with kidney disease need to be prepared for their care needs to increase or decrease, depending on their condition and treatment plans.

As the disease progresses, people may need an increased level of care. Someone with early stage kidney disease may need less support than someone who is receiving regular dialysis, waiting for a transplant or receiving conservative care.

 

Conservative care for end stage kidney disease

Sometimes dialysis or a kidney transplant are not an option for a patient. If someone has other serious health conditions or is not eligible for a transplant, their medical team may consider that aggressive treatment for their kidney failure is unlikely to improve their quality of life.

While dialysis can help many people, it is not always a cure for end stage kidney disease, and it can be an invasive and time-consuming procedure. Because of this, some people with end stage kidney disease, sometimes also called kidney failure, may instead receive conservative management for their condition. This means that they will not go on dialysis or have a kidney transplant. Instead, their medical team will manage their health with medication and diet for as long as possible.

This may also be called palliative care.

Conservative care may be recommended:

• If the patient has other serious health conditions, such as heart failure or advanced cancer;
• If the patient is very elderly or frail;
• If dialysis is unlikely to work and the patient is not eligible for a transplant; or
• If the patient is likely to be very distressed and not understand the purpose of dialysis, for example if they have dementia.

The goal of conservative care for kidney failure is not to provide a cure, but instead to maximise the patient’s quality of life.

People receiving conservative care will receive treatment to manage their symptoms as much as possible. Their healthcare team may consist of specialist doctors and nurses, their GP, district nurses, and home carers who can support them on a day-to-day basis.

 

Barriers to successful care for chronic kidney disease

As with many rare diseases, it can be hard to provide successful care for people with chronic kidney disease before an accurate diagnosis.

Finding home care services for someone with a serious illness can be difficult. When the condition is progressive, it can be hard to find a care organisation that can manage fluctuating needs.

If the person needs regular hospitalisations, they may not need care every day or week. However, when they are at home, they may need a lot of support, including food preparation and medication administration.

 

Community services for chronic kidney disease patients

There are several charities and other organisations who can provide support for people with chronic kidney conditions and other rare diseases. The person’s healthcare team may be able to signpost them to any local organisations.

Charities may be able to provide advice about living with rare diseases, including:

• Advice about food and drink restrictions
• Counselling for the patient and their family
• Grants for respite care or other needs

Supporting people with rare diseases

Many people with rare diseases need a high level of quality home care. These conditions might affect people of any age, and leave them with complex needs.

Sometimes the care that someone will need fluctuates. Many rare diseases have periods of remission, or times when the condition progresses. In these situations, patients need to find a care agency that can accommodate varying needs. In the past, I found this a very difficult thing to do, when looking for care for my mother. It seemed like there was a real lack of specialised care for rare diseases. This is why I founded Tiggo Care, to provide a flexible and bespoke approach to care.