What Is A Rare Disease?
A rare disease is also known as an orphan disease
There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
Approximately 50% of the people affected by rare diseases are children
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
According to the Kakkis Every Life Foundation, 95% of rare diseases have not one single FDA approved drug treatment
During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease
There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
Approximately 50% of the people affected by rare diseases are children
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
According to the Kakkis Every Life Foundation, 95% of rare diseases have not one single FDA approved drug treatment
During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease
A.L.P.S
ALPS is a condition that causes multiple white blood cells to rapidly form, affecting multiple organs and systems and carries a lifelong increased risk of lymphoma and other cancers which can be fatal. Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).
Autoimmune disorders are also characteristic of ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Most of the autoimmune disorders associated with ALPS damage blood cells. For example, the immune system may attack red blood cells (autoimmune hemolytic anemia), white blood cells (autoimmune neutropenia) or platelets (autoimmune thrombocytopenia).
Other autoimmune disorders that may occur in people with ALPS damage the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), nerves (Guillain-Barre syndrome), or connective tissues, the material that provides strength and flexibility to structures throughout the body (systemic lupus erythematosus). Individuals with ALPS may develop skin rashes or hardened skin with painful lumps or patches (panniculitis).
Other signs and symptoms such as arthritis, inflammation of blood vessels (vasculitis), mouth sores (oral ulcers), or an early loss of ovarian function (premature ovarian failure) may also occur in this disorder. Affected individuals may also develop neurological damage (organic brain syndrome) with symptoms that may include headaches, seizures, or a loss of intellectual functions (dementia).
Autoimmune disorders are also characteristic of ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Most of the autoimmune disorders associated with ALPS damage blood cells. For example, the immune system may attack red blood cells (autoimmune hemolytic anemia), white blood cells (autoimmune neutropenia) or platelets (autoimmune thrombocytopenia).
Other autoimmune disorders that may occur in people with ALPS damage the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), nerves (Guillain-Barre syndrome), or connective tissues, the material that provides strength and flexibility to structures throughout the body (systemic lupus erythematosus). Individuals with ALPS may develop skin rashes or hardened skin with painful lumps or patches (panniculitis).
Other signs and symptoms such as arthritis, inflammation of blood vessels (vasculitis), mouth sores (oral ulcers), or an early loss of ovarian function (premature ovarian failure) may also occur in this disorder. Affected individuals may also develop neurological damage (organic brain syndrome) with symptoms that may include headaches, seizures, or a loss of intellectual functions (dementia).
PKCd Deficiency
PKCd deficiency causes an ALPS like disease.
PKCd is a homozygous PRKCD mutation which results in B-cell hyperproliferation and defective
apoptosis with consequent lymphocyte accumulation and autoantibody production in humans, and disrupts natural killer cell function.
Mutations in PRKCD causes chronic benign lymphadenopathy, splenomegaly, and lymph nodes show intense follicular hyperplasia.
PKCd is a homozygous PRKCD mutation which results in B-cell hyperproliferation and defective
apoptosis with consequent lymphocyte accumulation and autoantibody production in humans, and disrupts natural killer cell function.
Mutations in PRKCD causes chronic benign lymphadenopathy, splenomegaly, and lymph nodes show intense follicular hyperplasia.