Stress and rare diseases

How does stress affect patients with rare diseases?

Long-term chronic diseases have a direct impact on the quality of life of those affected, and may be accompanied by psychological disorders, such as anxiety or depression.

Patients with rare diseases frequently face stressful situations

The special case of Rare Diseases normally causes difficult management of the disease itself.

In general, it has a great impact on the subjective well-being of the person, affecting their quality of life.

“The paradox of rarity” arises from the fact that each disease has a very low prevalence.

Rare diseases are unknown and invisible for a large part of the population, but as a whole they account for a high number of people affected.

The Epidemiological Network for Research on Rare Diseases (REpAIR) establishes a series of characteristics to facilitate the analysis of this group.

It also limits the parameters associated with the stress that they may suffer, in this case, they are the following:

  • Little knowledge of the origin of the disease.
  • Chronicity
  • Lack of curative treatment or poor accessibility to it
  • Significant disease burden
  • Limited quality of life

What are the factors that influence the most?

Although the pathophysiology of rare diseases is diverse, certain aspects common to all of them are shown that make it possible to group them and study the impact of these diseases on the quality of life of the affected people.

Although the pathophysiology of rare diseases is diverse, certain aspects common to all of them are shown that make it possible to group them and study the impact of these diseases on the quality of life of the affected people.

The goal is to offer an alternative that improves your well-being.

What factors cause stress in patients with rare diseases?

Access to information

The lack of knowledge surrounding these pathologies, given the wide variability of symptoms for the same disease, although the following reasons also influence:

  • The lack of studies that offer clearer diagnostic guidelines,
  • The difficulty of accessing the necessary information
  • The location of professionals or specialized centers.

Without a doubt, these types of situations cause a feeling of insecurity and helplessness in patients and family members.

In this case, patient associations have emerged as a response to alleviate these effects.

Its main purpose is to support the patient and her family, providing them with information and tools to help them in their daily lives.

Lack of social awareness

In recent years, great efforts have been made to increase the visibility of the group of people affected with RRD,

Furthermore, the efforts of the associations to increase the visibility of the group have been made by civil society.

At this moment, we can affirm that the Rare Diseases associative movement has evident strength.

On the other hand, their demands appear with increasing intensity in the different opinion forums and dissemination channels.

Most representative patient support associations in Spain

At the state level, FEDER is the entity in Spain that represents the largest associative network.

This entity was born in 1999 as a result of the union, interest and effort of 7 associations.

Also in our country, in 2009 the State Reference Center for Rare Diseases (CREER) was created, whose objective is to constitute a reference center at the state level, while offering direct care to those affected.

At the European level EURORDIS, founded in 1997, is a non-governmental alliance of affected and patient-led organizations that represents around 700 rare disease organizations in more than 60 countries.

Finally, highlight Orphanet as a reference information portal on rare diseases and orphan drugs, whose objective is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases.

Centro Andaluz alfa 1 is part of a network of associations that focus all their efforts on improving the quality of life of patients with Alpha 1 antitrypsin deficiency. Here you can find our partners

Compromised vital prognosis

According to the data provided by the ENSERio study:

  • 59% of people diagnosed with RRSD have a compromised life prognosis.
  • 35% of those affected die within a year of being diagnosed.
  • 12% die between one year and 5 years following diagnosis.
  • 12% die between 5 and 15 years after diagnosis.

In other words, only 41% of those diagnosed will survive more than 15 years after being diagnosed.

Genetic origin and onset in pediatric age

It is estimated that 80% of RREs are of genetic origin, mostly hereditary.

While the remaining 20% are due to infectious, allergic, degenerative or autoimmune causes, often triggered by environmental factors.

Although the parents know the risk of this inheritance in those disorders due to genetic mutations, in cases where the disease comes from recessive genes, the parents are usually healthy individuals.

Therefore, even though they are carriers of the mutation, they are unaware of the risk.

Serious and highly disabling illnesses

As indicated in the Psychological Support Guide for RREs (5), 65% of RREs are disabling, and usually present with the following manifestations:

  • Early start
  • Chronic pain
  • Deficient development of physiological structures
  • Committed forecast

On the other hand, 75% of these diseases affect during the childhood stage, and this means that much of the care falls directly on the families, also affecting the quality of life of the whole.

As for the adult population, according to the data provided by the ENSERio study, 75% of those affected need help to fend for themselves.

That is, they depend on other people to achieve autonomy, and 35% of the sample is dissatisfied with the degree of disability granted.

Great difficulty in doing epidemiological studies

There is great difficulty in carrying out epidemiological studies in the group of people affected by RRD.

There are two main drawbacks:

  • The first of them is the low prevalence of the different disorders that makes it difficult to gather a sample large enough to be able to issue representative results.
  • The other major drawback is the high variability in the symptoms for the same disease, which makes making a correct diagnosis an arduous task.

Lack of treatment and drugs

Given the low prevalence of RRDs, the pharmacological investment made on them is insufficient.

This fact generates little research and little profitability in the pharmaceutical industry.

As a consequence, one of the main problems in the use of medications is not sufficient evidence of their effectiveness, as well as the safety of their use.

Need for care coordination

The care of patients with rare diseases is complex, since it requires treatment by a multidisciplinary team that addresses the different needs of those affected.

It is for this reason that it requires great coordination on the part of the different services that serve this group.

However, the lack of protocols or an effective health care model and the lack of coordination between different health professionals, which make health care difficult, can generate stress in patients.

In this sense, the patient may find dissatisfaction due to the need for greater continuity of professional care.

Demand for health, educational, labor and social aid

Despite having a health system that strives to accommodate this group, there are many difficulties that those affected by rare diseases encounter in accessing the available resources, among them are the difficult accessibility of these treatments, which, not all of them They are covered by social security.

Some specialized services are located in different provinces and often have to travel long distances.

Both some school-age patients and workers need adaptation in facilities and availability of hours for specialized care.

Extraordinary payments to be made to access health services outside the national health system also have an influence.

Great suffering and psychological despair of patients and families

Finally, the lack of information about the disorder forces patients to increase their knowledge by searching on the Internet, and this sometimes causes negative results due to the poor reliability of some sources.

Furthermore, the lack of training by professionals and the significant deterioration in health generates psychological discomfort in patients.

Episodes of anxiety can especially arise during the appearance of new symptoms or the rebound of others that were already controlled, as a consequence of the unpredictable course of the disease.

However, the loss of subjective well-being occurs not only in the affected person, but also in their family members.

In this way, the alternatives proposed to improve the psychological and emotional situation are aimed at both patients and their caregivers or family members.

That is, what is proposed is to increase psychological support for both patients and caregivers.

The objective is to increase your knowledge about the effective management of stress and emotional tensions derived from the disease.

Prevalence of anxiety in the population

What is anxiety?

The North American Nursing Diagnosis Association (NANDA) defines anxiety as the “vague, unsettling sensation of discomfort or threat accompanied by an autonomic response.

The origin is usually caused by something non-specific or unknown, as well as the feeling of apprehension caused by the anticipation of danger.

It is a warning sign that warns of imminent danger and allows the person to take measures to confront the threat; It is therefore an alarm reaction to a situation considered dangerous or threatening.


What is stress?

Stress can be defined as “a process that arises as a reaction to internal or external changes in the environment”; It is a set of phenomena and reactions triggered by the presence of a stimulus, called a stressor.

These are intended to increase perception, process a greater amount of information and obtain immediate solutions in order to save the individual and regain balance.

The immune system can be altered by the stress response.

For a stimulus to act as a stressor, it is necessary for the organism to consider it as threatening, that is, for the individual to make a subjective evaluation of the situation, and depending on the result, this stimulus will act as a stressor or not.

It could be said that stress is an adaptive response that allows the individual to defend or protect himself from a real situation considered threatening, while anxiety is a negative emotional reaction, the result of cognitive processing and not a real situation.

However, both stress and anxiety have the ability to generate a general adaptive response in the body.

High levels of stress are often associated with the development of negative emotionality such as anxiety, and when negative emotionality lasts over time it can give rise to an adaptive disorder of an anxious, depressive or mixed type.

This justifies early intervention in the event of the development of anxiety in any of its forms.


It could be said that stress has a double effect on health: in small doses, it is beneficial, in large doses, it is harmful.

A negative cause could be disruption of sleep cycles.

So it could affect by making the immune system more vulnerable, making us more prone to infections and the development of diseases.

Spiral effect

In short, patients with anxiety and high levels of stress have a greater risk of suffering from physical disorders than those who do not suffer from it, and enter a spiral; That is, stress causes the symptoms to worsen and at the same time this causes the patient to be more worried about her health.

Stress and anxiety not only affect physiological and cognitive processes, they also have a direct impact on the behavior of those affected, as mentioned above.

In this sense, psychological problems can be the cause of physical complications because they generate a lack of therapeutic adherence and a decrease in self-care behaviors.

The presence of anxiety in patients with chronic diseases acts as a barrier to the acceptance process, and this means that it offers resistance when changing relevant lifestyle habits, also hindering the effectiveness of treatments.

If you suffer from a rare disease or feel responsible for its care, go to the relevant Association to find the help you need

Centro Andaluz Alfa-1