Living with a rare disease: An often underestimated psychological challenge

What is a rare disease? 

A rare disease is a condition that affects a limited number of people in a given population. There is no universal definition of rare diseases. In fact, prevalence can be calculated on the scale of a country or a population group, which explains why a disease can be rare in one region and frequent in another. For example, the Mediterranean fever is common in Armenia, but rare in France.

In Europe, a rare disease is defined as affecting less than 1 in 2,000 people. In the United States, a disease is considered rare when it affects approximately 1 in 1,500 people. It is estimated that there are nearly 7,000 rare diseases, affecting more than 3,5 million people in the UK. The majority (80%) are genetic in origin, while others can be infectious, auto-immune or cancerous.

When a rare disease has no effective treatment, it is known as an orphan disease.

Rare diseases pose a major challenge because of the lack of research and medical data available. Their symptoms are atypical or similar to more common diseases, making them difficult to identify. Diagnosis can be long and complex, leading to diagnostic mistakes.

Many patients suffer from a lack of treatment, inadequate medical follow-up and social isolation. Treatments are often non-existent or experimental, limiting their options. The rarity of cases hampers research and the development of new drugs, requiring greater mobilization of all those involved in healthcare.

With such numerous challenges that come along, being diagnosed with a rare disease is often a shock. Yet there are ways of coping with the news and living a better life with the disease.

Receiving a rare disease diagnosis

Receiving a diagnosis of a rare health condition can be a shattering moment, affecting both the patient and those around them. After years of waiting for a proper diagnosis, finally putting a name on the symptoms often gives way to a mixture of relief and shock. This news greatly affects personal, family, social and professional life, requiring time to adapt and to find appropriate support.

The announcement of a rare disease frequently provokes:

• Denial or refusal to believe it,
  
• A feeling of injustice and shock,
  
• Fear of the future and medical anxiety.
  

This upheaval also affects those who are close to the patient: parents, spouses, children and friends also have to face up to this reality, which is sometimes difficult to accept.

There are a number of strategies that can help you better cope with the news:

• Take time to assimilate the news: everyone reacts differently, and it is normal to go through various emotional phases,
  
• Get support from a mental health specialist: professional support can help you manage your anxiety and find ways to cope,
  
• Get in touch with patient support groups: sharing with other sufferers or caregivers helps break the isolation and provides access to valuable information,
  
• Get a second medical opinion: given the complexity of rare diseases, getting in touch with a specialized medical centre can provide additional answers.

Obtaining a diagnosis of a rare disease opens the way to appropriate treatment and a better understanding of the disease. Nonetheless, it is important to be well-informed, to surround yourself with people who can help and to rely on trustworthy resources to help you through this ordeal.
However, beyond the shock of the diagnosis, rare diseases have a profound impact on the mental health of patients and their families.

What is the psychological impact of a rare disease? 

Rare diseases affect less than one person in 2,000, making diagnosis often a long and complex process. The absence of a correct diagnosis can last for years, plunging patients and their families into profound uncertainty. Lack of answers and minimization of symptoms can lead to intense stress, loss of self-confidence and growing emotional distress.

Social isolation and guilt 

Every day, patients and their families have to deal with the incomprehension of those around them. Relatives may feel guilty: that they are not ill or that they have potentially passed on the disease. This emotional burden weighs heavily on the family and can generate tension, particularly among siblings.

Anxiety due to treatments and uncertainty about the future 

The absence of a cure, experimentation with new treatments and the difficulty of accessing specialist care all add to the pressure. Making complex medical decisions with no certainty about the outcome creates constant anxiety, affecting the quality of life of patients and their families.
All this can have a significant impact on mental health.

Depression 

The weight of the diagnosis, daily challenges and social isolation all contribute to the onset of depressive episodes. Loss of bearings, uncertainty about the future and feelings of powerlessness are all factors contributing to psychological vulnerability.

From chronic stress to anxiety 

Living with a rare disease or caring for a sick relative requires constant vigilance, which can lead to emotional and physical exhaustion.

The impact on family and caregivers 

Family caregivers are on the front line in supporting patients with rare conditions as they make their way through life. However, this intense involvement can lead to moral exhaustion, mental distress and sometimes even social isolation. Appropriate support is needed to prevent these risks.

The lives of people with rare diseases are often fraught with difficulties, marked by limited access to care and inadequate support. Lack of medical knowledge delays diagnosis and complicates treatment, leaving many patients in a state of uncertainty. Added to this are administrative difficulties and sometimes inadequate support, making them even more vulnerable psychologically, socially and economically.

Faced with these challenges, patients and caregivers need appropriate solutions to improve their daily lives, as well as their physical and mental well-being.

How can you improve your life with a rare condition? 

There are a number of ways to help people living with a rare disease break the isolation they feel and improve their quality of life:

Find help and support

Join associations such as Rare Disease UK to access information and a support network. Take a look at the online forums (Carenity.co.uk 😉) and talk to other patients to try and break the isolation.

Take care of your mental health

You can find a psychologist specializing in rare diseases to help you manage your emotions and avoid exhaustion. Try relaxation techniques (meditation, self-hypnosis, breathing) to reduce anxiety and improve daily well-being.

Share with others and raise awareness 

Inform family and caregivers to promote better understanding and appropriate support. Sharing experiences through testimonials, blogs and podcasts can break down taboos and change attitudes.

Access appropriate resources 

Turn to trustworthy sources of information on care, education, employment and support for rare disease patients and caregivers. Explore the existing ways to improve administrative recognition and facilitate medical and social care.

Living with a rare disease is a daily struggle that goes beyond medical care. The psychological impact is immense, but there are ways of easing the mental burden. By finding support, surrounding yourself with specialized healthcare professionals and educating those around you, you can improve your quality of life.

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