Rare diseases disorders list

rare disease day

What is Rare Disease Day?

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

What Constitutes a Rare Disease?

In the U.S., a disease is considered rare if it is believed to affect fewer than 200, 000 Americans. There are about 7, 000 rare diseases, according to the National Institutes of Health (NIH).

CRFRare Disease Facts and Stats

About 350 million people worldwide suffer from a rare disease

  • Europe has approximately 30 million people living with rare diseases.

A stark majority of rare diseases are genetic

  • 80% of rare diseases are genetic in origin.
  • This means that these diseases are present throughout a person’s life, even if symptoms do not immediately appear.

Too many children are affected

  • About 50% of those affected by rare diseases are children.
  • About 30% of children with rare disease will not live to see their 5th birthday
  • Rare diseases are responsible for 35% of deaths in the first year of life

ChromosomesWith rare diseases, come rare challenges

What are These 7000 Rare Diseases?

GlobalGenes.org provides a list of the many rare diseases around us. Take some time to learn about these issues. The first step to finding cures, providing innovative treatments, and helping the cause on any level is to become aware.

Highlighting a Few Rare Diseases

International Angelman DayOf the thousands of rare diseases out there, each comes with their own symptoms, difficulties, and treatments. I decided to highlight 10 of these rare diseases. Each of these diseases are fortunate enough to have a group or foundation working towards a cure.

Hutchinson-Gilford Progeria Syndrome (Progeria) is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke.

Barth syndrome (BTHS) is an X-linked genetic condition, usually transmitted from mother to son. Typical characteristics of Barth Syndrome include: cardiomyopathy (dilated or hypertrophic), neutropenia (chronic, cyclic, or intermittent), underdeveloped skeletal musculature and muscle weakness, growth delay, exercise intolerance, cardiolipin abnormalities, and 3-methylglutaconic aciduria.

Canavan disease is a progressive, fatal neurological disorder that begins in infancy. It is caused by an inherited genetic abnormality: the lack of an essential enzyme causes deterioration of the white matter (myelin) in the brain, thereby preventing the proper transmission of nerve signals.

moebius syndrome marfan
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Popular Q&A

Can settle in canada at sympathy basses as i m suffering from a rare disease and have no medication facility?

In order to immigrate to Canada you must meet the requirements of one of the categories. Further, all immigrants are required to undergo medical exams. Any serious medical condition is likely to make you medically inadmissible to Canada.
There are hundreds of millions of sick people in the world who can't get medical treatment in their home countries. Nearly half the population of the planet doesn't have access to western medical treatment.

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