ORPHAN DISEASES

Challenges in Diagnosis and Treatment Accessibility

Rare diseases , also referred to as orphan diseases , comprise a diverse group of medical conditions that affect a small percentage of the population individually but collectively impact millions of people worldwide. Despite their low prevalence, these disorders exert a disproportionately high burden on public healthon public health due to their complex clinical presentations, diagnostic delays, and limited therapeutic options.

Rare diseases are not limited to genetic or autoimmune origins—they include a wide spectrum of metabolic, infectious, neoplastic, and idiopathic conditions that often present with atypical or non-specific symptoms , making early and accurate diagnosis particularly challenging.

One of the most pressing issues for patients with rare diseases is the diagnostic odyssey — a prolonged and often frustrating journey toward a definitive diagnosis. Coupled with the scarcity of effective and accessible treatments , this creates significant emotional, physical, and financial stress for patients and their families.

This article delves into the key obstacles encountered in the diagnosis and management of rare diseases and explores emerging strategies to improve patient care, early detection, to improve patient care, early detection, and long-term quality of life.

What Are ORPHAN Diseases?

A disease is considered rare if it affects fewer than 1 in 2000 or 5000 people, depending on the legislation of the specific country. There are over 7000 different rare diseases worldwide. These diseases can manifest at various stages of life and often require unique approaches to treatment and diagnosis. For example, conditions such as cystic fibrosis, Gaucher’s disease, Turner syndrome, or rare forms of cancer are just a small example of the vast spectrum of rare diseases.

Despite the fact that each individual case is rare, the total number of people suffering from rare diseases is estimated to be 6-8% of the global population. Thus, rare diseases affect tens of millions of people worldwide, making the issue of their diagnosis and treatment important.

Challenges in Diagnosing Rare Diseases

One of the main challenges for individuals with rare diseases is diagnosis. These diseases are extremely difficult to detect, and diagnosis often takes years. The reasons for this difficulty are varied:

1. Lack of Awareness Among Healthcare Professionals: Many doctors encounter rare diseases infrequently in their practice, which makes it difficult to identify them in a timely manner. In most cases, the clinical manifestations of rare diseases resemble symptoms of more common conditions, leading to diagnostic errors. Doctors may misinterpret symptoms and prescribe treatment for more common diseases, overlooking the rare pathology.
2. Symptoms Resemble Other Diseases: The initial signs of rare diseases may be subtle or similar to those of other conditions. For example, rare diseases like Ehlers-Danlos syndrome or hereditary ataxia can present with symptoms that are easily confused with more common neurological or joint disorders.
3. Slow Progress in Developing Diagnostic Tests: Many rare diseases have poorly understood etiologies, making it difficult to develop diagnostic tests that can effectively detect the disease at an early stage. Genetic testing, which could significantly speed up the diagnostic process, is often unavailable or too expensive for most patients.
4. Variety of Clinical Forms: Some rare diseases may manifest differently depending on the patient’s age, sex, or other factors. This variability in clinical presentations complicates early diagnosis and the prediction of disease progression.

Challenges in Treatment Accessibility for Rare Diseases

In addition to diagnostic difficulties, patients with rare diseases also face challenges in accessing effective treatment. The problems related to the treatment of rare diseases can be categorized into several areas:

1. High Treatment Costs: Treating rare diseases often requires the development of specialized drugs, which makes their production expensive and commercially unviable. Medicines that can help treat orphan diseases are often not produced in large quantities, leading to high costs. This makes treatment unaffordable for most patients, especially in resource-limited countries.
2. Lack of a Wide Range of Effective Therapies: For many rare diseases, effective medications or therapeutic methods do not yet exist. The drugs that are available are often limited and may not cure the disease, but only alleviate symptoms. Moreover, these treatments may be imperfect, inaccessible, or so expensive that they are unaffordable for most patients.
3. Lack of Support Programs: In countries with underdeveloped healthcare systems or limited government resources, support for patients with rare diseases may be restricted. For example, some countries do not have national programs to support access to treatment for rare diseases or assist with diagnostics.
4. Shortage of Specialized Medical Centers: Treating many rare diseases requires the involvement of highly qualified specialists who can work only in specialized medical centers. These institutions are often concentrated in major cities or developed countries, limiting access to treatment for people living in remote areas or developing nations.
5. Challenges in Clinical Trials: Since rare diseases often do not attract sufficient attention from researchers, the number of clinical trials dedicated to such diseases is limited. This makes it difficult to develop new treatment methods and access innovative therapeutic approaches.

Possible Solutions to the Problem

Despite these difficulties, several approaches can help address the diagnosis and treatment of rare diseases:

1. Increasing Awareness Among Healthcare Professionals: One of the most important steps in solving the problem is raising awareness among healthcare providers about rare diseases. This can be achieved through educational programs, training, and seminars to help doctors recognize the symptoms of rare conditions.
2. Advancing Genetic Research: The development of genetic sequencing technologies could play a key role in faster and more accurate diagnoses of rare diseases. Modern diagnostic methods allow the identification of many genetic mutations associated with rare diseases, which could significantly speed up the diagnostic process.
3. Government Support for Drug Development: To solve the problem of treatment accessibility, government bodies and international organizations need to actively support the development of drugs for rare diseases. This can include tax incentives for companies developing medications, as well as programs to reduce the cost of orphan drugs.
4. International Collaboration: It is important to create international scientific networks for sharing information and best practices. Organizations like EURORDIS (European Organization for Rare Diseases) are already working in this direction, providing patients and doctors with access to necessary knowledge and support.
5. Telemedicine and Remote Consultations: For people living in remote regions, the development of telemedicine can be an effective way to access consultations and recommendations from specialists in rare diseases.

To improve the situation with rare diseases in the future, it is necessary not only to support current initiatives but also to actively implement innovations in diagnostics and treatment, as well as develop long-term strategies. Let’s consider several areas that could change the situation in the coming years.

Genetic Medicine and Personalized Treatment

With the advancement of genetics, there are increasing opportunities for personalized approaches in the treatment of rare diseases. Genetic medicine, including genome editing technologies such as CRISPR, opens new horizons for treating diseases caused by genetic mutations. This revolutionary technology will not only allow for precise diagnosis of genetic deviations but also possibly directly eliminate them, radically changing the approach to treating rare diseases.

Personalized treatment, based on the analysis of a patient’s genetic profile, also promises to improve therapy for people with rare diseases. For example, targeted therapy, which focuses on correcting the specific cells and mechanisms associated with the disease, could be effective in treating rare genetic conditions.

Clinical Trials and Development of Orphan Drugs

Most rare diseases remain without effective treatments due to the lack of clinical trials and the inability to develop specific drugs due to the small patient population. However, with the development of technologies and approaches such as “personalized” or “targeted” medicine, new opportunities have emerged for conducting clinical studies with small numbers of participants. Instead of relying on mass testing, which may not be feasible in the case of rare diseases, new research models can help speed up the development of effective therapeutic solutions.

Digitalization and Artificial Intelligence

The digitalization of healthcare and the use of artificial intelligence (AI) can also play an important role in combating rare diseases. The application of AI to process large datasets helps doctors diagnose diseases more quickly by analyzing various symptom variations, as well as making more accurate predictions regarding disease progression.

AI systems are already being used to diagnose rare diseases, particularly in genetics and molecular biology, where large amounts of data are required for accurate diagnosis. AI can not only speed up the diagnostic process but also predict disease progression, allowing treatment to begin at earlier stages.

Digital platforms and databases, in turn, can help connect doctors, researchers, and patients, facilitating faster information exchange and scientific discoveries, which will accelerate the development of new therapeutic strategies.

Public Support and Raising Awareness

Raising public awareness about rare diseases is crucial for improving the situation. Patient organizations such as EURORDIS in Europe or NORD in the US play a key role in drawing attention to the issues of rare diseases. These organizations help create communities that support people with rare diseases and advocate for increased funding for research and treatment.

Public campaigns can change society’s attitude toward rare diseases, increase knowledge about them among doctors, and improve access to diagnosis and treatment. It is essential that rare diseases no longer remain “invisible” and that patients with such diseases do not feel isolated.

Inclusive Programs for Patients with Rare Diseases

Along with the development of medical technologies, it is also necessary to develop social and psychological support programs for people suffering from rare diseases. This includes assistance with social adaptation, working with families and patients at all stages of the disease—from diagnosis to treatment.

Inclusive programs may include educating patients and their families, supporting them in resolving legal and financial issues, and providing information about available medical and social resources. This will help patients not only cope with the physical consequences of diseases but also minimize the psychological stress associated with the rarity of their condition.

Conclusion

Rare diseases remain a significant healthcare issue worldwide. Despite the challenges in diagnosis, the complexity of developing effective treatment methods, and limited access to medical services, there are many opportunities for improvement. Advances in genetics, personalized treatment, the use of artificial intelligence, and support from international organizations play a key role in solving these problems.

However, the most important element remains awareness. A strong network of doctors, researchers, organizations, and patients, ready to share knowledge and experience, can significantly improve the situation, providing patients with rare diseases access to quality diagnosis and treatment.

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