Health challenges in rare diseases

The World Health Organization (WHO) defines rare diseases as diseases that affect fewer than five out of every 10,000 people. According to the WHO, 700 rare diseases affect 7% of the planet's inhabitants.

Rare diseases are often chronic and develop and the disease increases over time, causing the patient frequent health problems that have a negative impact on the quality of life of the patient and a disruption of life often due to disability and dependence that will endure the suffering of the patient and his family, especially because these diseases do not have effective treatments.

There are between 6,000 and 8,000 rare diseases, 75% of rare diseases affect children, 30% of patients with rare disease die before the age of five, 80% of rare diseases are diagnosed Hereditary origin; rare diseases can be bacterial or viral infections, allergies, environmental causes.

Combined genetic diseases place a heavy burden on health systems and the family, and affect communities in a general and clear manner, so that rare diseases are a public health concern within the government's health system.

However, due to the limited spread of these diseases, health systems have not received attention among health priorities, common health problems and health crises. People with rare diseases often suffer from the lack of necessary and appropriate health care to find solutions to their health problems, such as the inability to accurately diagnose or the absence of drugs. Suitable for the treatment of health problems in health facilities and is not part of the research because of the limited number of cases and the short life of these, and the lack of healing in the majority of cases.

Health problems faced by people with rare diseases:

• Difficult to reach an accurate and correct diagnosis of the situation.

• Late diagnosis of rare cases.

• Lack of access to medical and scientific information on rare diseases.

• The limited treatment options currently available to treat these diseases.

• Difficulty obtaining a doctor or a treatment center specializing in the treatment of rare diseases in particular.

Treatment is expensive compared to the cost of treating common diseases.

• Difficult access to medical, social, financial or assistance services in general, as the general practitioner and the follower of these patients are not sufficiently aware of these diseases.

• The patient and his family may suffer socially, which negatively affects them.

In Saudi Arabia, the government system guarantees free treatment for all citizens, including the treatment of patients with rare diseases in specialized hospitals, where they are treated according to their health, as well as palliative and rehabilitation care.

The Saudi Ministry of Health supports some health issues requiring special nutrition, such as patients with celiac disease, and meets the needs of patients with disabilities resulting from a care-related illness home medical care or rehabilitation, with the necessary medical equipment, as well as social security subsidies for many conditions that lead to the invalidity of the wounded.

The presence of new media is an opportunity for rare disease patients and their families, as well as for health systems, to benefit by developing community health initiatives and research aimed at enhancing the focus of attention. rare diseases and improve their quality of life.

To improve the quality of life of rare patients and improve their quality of life, solidarity and cooperation for patients with rare diseases is an important element at different levels: patients and their families, health care providers, specialists, patients, researchers, pharmaceutical factories, decision-makers and the following countries:

• Implementation of comprehensive programs for rare diseases.

Increase international cooperation in scientific research.

• Promote the sharing of scientific knowledge on all rare diseases, not just the most common ones.

• Develop new diagnostic and therapeutic procedures.

• Raise public awareness of rare diseases.

• Facilitate communication between patient groups to share experiences and effective practices.

• Support more isolated patients and their parents to provide new patient communities.

• Provide information to the community about the overall quality of the rare disease.

• Enact rare disease laws such as supporting medical research and providing financial support to the patient and their family.

• Encourage companies to develop treatments for rare diseases.