Rare Diseases: Why Diagnosis is Delayed and How Patients Adapt to Lifelong Care

Why Diagnosis is Delayed and How Patients Adapt to Lifelong Care

Rare diseases, or orphan diseases, are a group of conditions that affect a small portion of the population but have a significant impact on the quality of life of those who suffer from them. Although these diseases are not commonly encountered, their collective impact on society is quite substantial. Currently, over 7,000 rare diseases are known, and they affect about 6-8% of the global population. However, the diagnosis and treatment of these diseases come with numerous challenges, making the lives of patients with rare diseases a true test.

In this article, we will explore why rare diseases are difficult to diagnose, the challenges in treatment, and how patients manage living with these conditions.

What Are Rare Diseases?

Rare diseases are considered those that affect fewer than 1 in 2,000 or 5,000 individuals, depending on the legislation of different countries. These can be genetic diseases, autoimmune diseases, or conditions caused by metabolic disorders or other rare factors. Examples of rare diseases include cystic fibrosis, Gaucher disease, Turner syndrome, rare types of cancer, and many others.

Although each of these conditions is rare, their overall prevalence at a global level is about 6-8% of the entire population. This means that millions of people around the world suffer from rare diseases, and the issues of diagnosis and treatment are becoming increasingly relevant.

Why Are Rare Diseases Difficult to Diagnose?

The diagnosis of rare diseases is one of the most challenging tasks for doctors because many rare diseases share symptoms with more common diseases and often manifest at different stages of the patient’s life. Here are the main reasons why rare diseases are difficult to diagnose:

Low Awareness Among Doctors: Rare diseases are extremely uncommon in everyday practice, and many doctors are simply not familiar with their symptoms and characteristics. Doctors, especially in regions with limited access to specialized medical care, struggle to recognize the symptoms of a rare disease in a timely manner. As a result, diagnosis may be delayed for years, and patients often undergo numerous unnecessary tests.

Symptoms Overlap with Other Conditions: Many rare diseases share symptoms with more common diseases. For example, the symptoms of Ehlers-Danlos syndrome may resemble typical joint problems, and hereditary ataxia may appear similar to common neurological disorders. This leads to diagnostic errors and delays in administering the correct treatment.

Lack of Specific Diagnostic Tests: For many rare diseases, there are no widely available or affordable diagnostic tests. Genetic testing and other complex analyses can be quite expensive and not accessible to all patients, further complicating the diagnostic process. Additionally, many rare diseases have poorly understood etiologies, and doctors often face the challenge of selecting treatment without a definitive diagnosis.

Variability of Clinical Manifestations: Some rare diseases can manifest differently in different patients depending on age, gender, or other factors. For example, Gaucher disease may present in several different clinical forms, making early diagnosis and predicting the course of the disease more challenging. This variability in symptoms exacerbates the difficulties in diagnosis.

Treatment Challenges for Rare Diseases

In addition to diagnostic challenges, patients with rare diseases face numerous difficulties related to treatment. Treating rare diseases presents several key issues:

1. High Treatment Costs
   Treating rare diseases often requires the development of specialized medications that are produced in limited quantities, making them expensive and inaccessible to most patients. The cost of treatment can be so high that many patients cannot afford the necessary care, especially in countries with limited resources.

2. Lack of Effective Therapeutic Options
   For many rare diseases, no effective treatments have been developed. Sometimes, medications only alleviate symptoms but do not address the underlying causes of the disease. These medications may also be imperfect, and their cost can be unaffordable for most patients.

3. Shortage of Specialized Medical Centers
   Many rare diseases require intervention from highly skilled specialists who work in specialized medical centers. However, these centers are often located in major cities or developed countries, limiting access to care for people living in remote areas or developing countries.

4. Lack of Support from Health Systems
   In some countries, there are no national programs or structures supporting patients with rare diseases. This can lead to insufficient levels of medical care and hinder diagnosis and treatment.

How to Live with a Rare Disease?

Living with a rare disease is not only a physical battle with the illness but also emotional and psychological challenges. However, there are strategies and approaches that can help patients and their families cope with this condition.

1. Family and Close Friends Support
   Having a strong support network of family and friends is crucial. The support of loved ones helps patients maintain psychological balance and cope with the daily challenges posed by the disease. Understanding from those around them also plays a significant role in helping people with rare diseases feel less isolated.
2. Education and Awareness
   Being informed about the disease and understanding all its aspects, as well as having access to specialized information, helps patients to be better prepared for the fight against the disease. Families of patients can receive information from doctors, as well as from patient organizations such as EURORDIS (European Organization for Rare Diseases) or NORD (National Organization for Rare Disorders in the USA).
3. Social Support and Patient Organizations
   There are organizations that provide informational and emotional support to patients and their families. These organizations can help find treatment resources and offer consultations on the diagnosis and therapy of rare diseases.
4. Telemedicine
   Telemedicine is an important tool for patients living in remote areas where specialized medical centers are unavailable. Modern technology allows for consultations with doctors via the internet, significantly improving access to medical services.
5. Psychological Support
   For many patients with rare diseases, psychological support is essential. Constantly battling the illness, long searches for diagnosis and treatment, can lead to depression, stress, and emotional exhaustion. Psychological support and consultations with professionals help patients maintain mental health and emotional resilience.

Conclusion

Rare diseases remain a significant healthcare challenge worldwide. Difficulties in diagnosis, high treatment costs, and limited access to specialized care create substantial barriers for patients. Nevertheless, progress in medical science, the development of genetic technologies, telemedicine, and psychological support are helping patients not only improve their quality of life but also cope with the disease. It is important for society and the medical community to continue working to improve diagnosis, treatment accessibility, and support for people with rare diseases.

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