Rare diseases
Introduction:
The disease is rare if it affects one in 2,000 people in the population, so many of these diseases
Rare genetic diseases appear from birth, and despite this, some genetic diseases do not appear
Only late. Together, these diseases constitute a heavy burden and affect societies greatly
clear; Therefore, rare diseases are a matter of public health.
Characteristics of rare diseases:
• Rare diseases are often chronic and develop and the disease increases with the passage of time
The patient has frequent health relapses.
• Rare diseases often disrupt patients’ lives due to deficiency or loss
independence.
• Rare diseases cause pain and suffering for the patient and his family.
• There is no effective treatment for rare diseases.
• There are between 6,000 and 8,000 types of rare diseases.
• 75% of rare diseases affect children.
• 30% of patients with a rare disease die before the age of five.
• 80% of rare diseases have genetic causes.
• Rare diseases are the result of bacterial or viral infections, allergies, and causes
environmental.
Examples of rare diseases:
There are many types of rare diseases including mental diseases, cardiovascular diseases
Blood diseases, chromosomal diseases, skin diseases, infections, endocrine, system diseases
Urinary diseases, orthopedic diseases, as some rare diseases such as hemophilia and albino have well-known names
For the general public, other diseases bear the name of the physician who discovered them or are even attributed to the first patient or the first
A hospital where the disease was detected, eg Harbor Harbor Syndrome.
Number of rare diseases that have treatment:
Many rare diseases do not have a cure. Many of them have not even been studied in medical research
Yet, very often people with a rare disease suffer from a lack of access to care
necessary and appropriate health services to find solutions to their health problems, such as the inability to make an accurate diagnosis
Or the unavailability of appropriate medicines to treat pathological conditions in health institutions.
Health problems experienced by people with rare diseases:
• Difficulty in reaching an accurate and correct diagnosis of the situation.
• Delayed diagnosis of cases of rare diseases.
• Lack and difficulty in obtaining medical and scientific information on rare diseases.
• The limited treatment options currently available to treat these diseases.
• Difficulty finding a doctor or treatment center experienced in treating rare diseases
In particular.
• Treatment is expensive compared to the costs of treating common diseases.
• Difficulty obtaining medical, social, or financial services or assistance
generally; Because the general practitioner and follower of these patients are not sufficiently aware of these
diseases.
• The patient and his family may suffer socially, which negatively affects him.
Important suggestions for patient support and health care development:
• Implement comprehensive programs for rare diseases.
• Developing appropriate public health policies.
• Increasing international cooperation in the field of scientific research.
• Gain and share scientific knowledge about all rare diseases, not just most
widespread.
• Develop new diagnostic and therapeutic procedures.
• Raise public awareness of rare diseases.
• Facilitate communication between groups of patients to exchange experiences and effective practices.
• Support the most isolated patients and their parents to provide new communities for the patient.
• Provide information to the overall quality of the community about rare disease.
• Enacting legislation in favor of rare diseases, such as supporting medical research and providing financial support
to the patient and his family.
• Provide incentives for companies to develop treatments for rare diseases.
• Solidarity and cooperation is an important and effective part in supporting patients with rare diseases
It is on several levels, including:
• Solidarity at the level of patients.
• Solidarity at the level of disease.
• Solidarity at the level of health care providers, specialists and patients.
• Solidarity at the level of researchers, pharmaceutical factories and decision makers.
• Solidarity at the state level.
Source: Saudi Ministry of Health
