I am going to be very honest when I say that I had HUGE plans to blog for Rare Disease Day, however, the last few days have been hectic with my mother being admitted to the hospital again with heart failure and diabetic ketoacidosis and me picking up whatever germs I caught in the ER. Everything you see below is directly taken from the websites listed under the statement on each disease. I am sharing these because they either effect me directly or someone I know. There are hundreds more. I share these to spread a little more awareness on each. Take some time and look through these diseases or ask someone you know who suffers from a rare disease where you can look up information what they are going through.
Idiopathic thrombocytopenic purpura, which is also called Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder characterized by the abnormally low levels of blood cells called platelets, otherwise referred to as thrombocytopenia. Platelets are specialized blood cells that maintain the integrity of our blood vessel walls and help prevent and stop bleeding by accelerating clotting. A normal platelet count ranges from approximately 150,000 to 400,000 per microliter of blood depending on the laboratory. If someone has a platelet count lower than 100,000 per microliter of blood with no other reason for low platelets, that person has thrombocytopenia and might have ITP. There is currently no definitive laboratory test to diagnose ITP. Rather ITP is considered a diagnosis of exclusion (see below) meaning that other causes have been excluded or are unlikely.
Immune thrombocytopenia, affects children and adults. Children often develop ITP after a viral infection and usually recover fully without treatment. In adults, the disorder is often long term.
There are various approaches to treating ITP depending on the platelet count, bleeding symptoms, patient preference, age, lifestyle considerations and other health issues. It is important for both the patient and physician to carefully weigh the potential risks along with the potential benefits when making a treatment decision. Treatments should be tailored to the individual, not based on a platelet count.
Hunter syndrome, also known as, Mucopolysaccharidosis type II (MPS II), is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. Because the body doesn't have enough of the enzyme to break down certain complex molecules, the molecules build up in harmful amounts.
In Hunter syndrome, the buildup of massive amounts of these harmful substances eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities.
Hunter syndrome appears in children as young as 18 months. It mainly occurs in boys, although very rarely it has been observed in girls.
There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications.
This is a rare condition affecting 1 in 100,000 to 1 in 150,000 males. There is an estimate in the United States that 1 in 25,000 births will result in some form of MPS.
Kabuki syndrome is a genetic condition that may be caused by a mutation in the KMT2D gene (in up to 80% of cases) or the KDM6A gene. In some people with Kabuki syndrome, the cause is unknown.
Kabuki syndrome is present from birth (it is congenital). People with Kabuki syndrome have similar, characteristic facial features. These include arched eyebrows; wide eyes that often slant upwards; long and thick eyelashes; a blue tint to the whites of the eyes (blue sclerae); prominent ears; downward slanting corners of the mouth; and a depressed tip of the nose. People with Kabuki syndrome may also have cleft lip; a highly arched or cleft palate; and widely spaced, irregular teeth.
Most people with Kabuki syndrome have mild to moderate intellectual disability, although this varies considerably. Early speech and language delay is common and some language-related difficulties usually persist.
Other medical problems may also be present. Congenital heart defects are common. Skeletal abnormalities may include a short and curved pinky finger (clinodactyly); spine abnormalities; and joint dislocations. Affected people often have weak muscle tone (hypotonia); feeding difficulties; seizures; and a small head size (microcephaly). Vision and hearing problems may also be present. Some affected children are more susceptible to infections, particularly ear infections
It had been initially suggested that Kabuki has a prevalence of 1 in 32,000 live births. However, a number of succeeding studies have thrown some question on this number. It is speculated that Kabuki could be as common as 1 in 10,000 live births.
Kabuki is found equally in males and females.
The Lennox-Gastaut syndrome (LGS) is a type of epilepsy with multiple different types of seizures, particularly tonic (stiffening) and atonic (drop) seizures. Intellectual development is usually, but not always, impaired. The EEG shows a classic pattern of background slowing and spike-wave bursts at frequencies less than 2.5 per second. The cause of the disorder is unknown in 1 out of 4 children.
LGS constitutes between 1-4% of pediatric epilepsies and typically appears between the second and sixth year of life. This translates to a prevalence of 14,500 - 18,500 children under the age of 18 in the United States and more than 30,000 children and adults in the U.S.
Some of the known causes of Lennox-Gastaut Syndrome include brain injury associated with pregnancy or birth (including asphyxia, low birth weight, and prematurity), severe brain infections (including encephalitis, meningitis and rubella), developmental malformations of the brain, or metabolic conditions. In 20-30 percent of cases, no cause can be found.