Any disease, disorder, illness or condition affecting fewer than 200,000 people in the U.S. is considered rare. The National Organization for Rare Disorders (NORD) says there are about 7,000 rare diseases and disorders which affect roughly 30 million Americans. That’s 1 in 10 people, and more than half of them are children.
Why is rare disease awareness so important?
It is often very hard to diagnose a rare disease and it can take a long time for a correct diagnosis to be made.
Then, even if someone receives a diagnosis, 95% of the conditions have no treatment or cure (which means that only 5% of affected people have a treatment option). As a result, many infants or children die from rare disorders.
Individuals living with a rare disease move through life without getting answers to their most basic questions.
Here are a few examples of rare diseases:
Agenesis of Corpus Callosum
This rare disorder is present at birth and is characterized by a partial or complete absence of an area of the brain. The cause of this condition is usually not known but it can be inherited. Symptoms include seizures, feeding problems and impairment of mental and physical development. Treatment is based on supporting an individual’s symptoms.
Klippel-Feil syndrome (KFS)
KFS is a skeletal disorder with an abnormal union of two or more bones in the spinal column within the neck. This can cause some affected individuals to have an abnormally short neck with restricted movement. KFS seems to occur randomly for unknown reasons, although in some cases it may be inherited. Treatment is directed toward an individual’s specific symptoms.
Progeria, or Hutchinson-Gilford progeria syndrome (HGPS)
Progeria is a rare, fatal, genetic condition of childhood that resembles premature aging. Progeria is not usually passed down in families. The gene change that causes the condition is almost always a chance occurrence that is extremely rare. In 2012, the results of the first-ever clinical drug trial for children with progeria revealed that Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, was shown to be effective for progeria. Other than Lonafarnib, which is not FDA-approved and thus only available through clinical drug trials, the treatment of progeria is directed toward the individual symptoms.
This condition is an inherited disease that affects a baby’s central nervous system (the brain and spinal cord). The central nervous system controls how the body works. There is no cure for Tay-Sachs, and a baby with Tay-Sachs usually dies by the time he is 4 years old.
NORD provides information on many rare diseases.
Rare Disease Day is always on the last day of February each year. This year it is on February 28th and the focus is on research. This year’s slogan is “With research, possibilities are limitless.” And it’s true, research can help discover treatments and in some cases cures. Research can give hope to people living their day-to-day lives in search of answers.
See rarediseaseday.us or NORD for more info.