Rare diseases - their characteristics and examples
Introduction:
The disease is considered rare if it affects one in every 2,000 people in
the population. Many of these rare diseases are hereditary diseases and
appear from birth, although some genetic diseases do not appear until late.
Together, these diseases constitute a heavy burden and affect societies
significantly and clearly. Therefore, rare diseases are a public health
concern.
Characteristics of rare diseases:
- Rare diseases often disrupt patients' lives due to a lack or loss of independence.
- Rare diseases cause pain and suffering to the patient and his family.
- There is no effective treatment for rare diseases.
- There are between 6000 and 8000 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 hereditary causes.
- Rare diseases are the result of bacterial or viral infections, allergies, and environmental causes.
Examples of rare diseases:
There are many types of rare diseases, including mental diseases,
cardiovascular diseases, chromosomal diseases, skin diseases, infections,
endocrine glands, urinary system diseases, orthopedic diseases. Some rare
diseases such as hemophilia and albino have names known to the public, and
other diseases bear the name of the doctor who discovered them. Or even
attributable to the first patient or hospital in which the disease was
discovered, for example, Harbor Harbor Syndrome.
Number of rare diseases that have a cure:
Many rare diseases have no cure. Many of them have not even been studied
with medical research so far, and in many cases, people with a rare disease
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 unavailability of appropriate medicines to treat
pathological conditions in health institutions.
Health problems experienced by people with rare diseases:
- It is difficult to reach an accurate and correct diagnosis of the condition.
- Delayed diagnosis of cases of rare diseases.
- Lack and difficulty in obtaining medical and scientific information on rare diseases.
- Currently, the treatment options available to treat these diseases are limited.
- Difficulty obtaining a doctor or treatment center experienced in treating rare diseases in particular.
- Treatment is very expensive compared to the costs of treating common diseases.
- difficulty obtaining medical, social, financial, or assistance services in general; Because the general practitioner and follow-up of these patients are not sufficiently familiar with these diseases.
- The patient and his family may suffer socially, which negatively affects him.
Important suggestions for patient support and healthcare development:
- Implement comprehensive programs for rare diseases.
- Develop appropriate public health policies.
- Increasing international cooperation in the field of scientific research.
- Gain and share scientific knowledge about all rare diseases, not just the most prevalent.
- Development of new diagnostic and therapeutic procedures.
- Raising public awareness of rare diseases.
- Facilitate communication between patient groups to share effective experiences and practices.
- Supporting the most isolated patients and their parents to provide new patient communities.
- Providing information for the community's overall quality about a rare disease.
- Enact 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 are an important and effective part in supporting rare diseases patients, and that is at several levels, including:
- Solidarity at the patient level.
- Solidarity at the disease level.
- Solidarity at the level of health care providers, professionals and patients.
- Solidarity at the level of researchers, pharmaceutical factories and decision-makers.
- Solidarity at the state level.
Stay Healthy...
