National Organization for Rare Disorders

Krabbe Disease According to the National Institute of Neurological Disorders and Stroke, “Krabbe Disease is a rare, inherited degenerative disease” (NINDS.nih.gov). It is diagnosed when a presence of globoid cells are found. Those are cells with more than one nucleus. A nucleus is like the brain of the cell where all the action happens. This disease breaks down the coating of nerve fibers or axons, those are called Myelin Sheath. This disease also breaks down brain cells which are imperative…

Huntington’s Chorea, more commonly known as Huntington’s disease, is a progressive hereditary neurodegenerative disorder that presents in mid-life, affecting an individual’s cognitive, emotional and motor abilities (Warby, Graham, & Hayden, 2014). Huntington’s disease was named after an American Physician by the name of George Huntington, who first documented the disease in 1872. In his findings, he described the disease as Hereditary chorea. In Greek terminology, the word Chorea means “to…

devastating to parents. If you have the gene that might have a mutation and you don't know but want to know if you could. There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the…

Charcot-Marie-Tooth Disease affects 1 in 2,500 people in the United States, affecting over 2.8 million people worldwide. This disease is classified as a neurological disorder and largely affects the muscles and nerves, namely in the lower legs and feet. CMT is caused by over 100 different gene mutations and is classified into four types as well as multiple subtypes. According to the Charcot-Marie-Tooth Association, there are multiple types of Charcot-Marie-Tooth Disease, each of which have…

Have you ever heard of the national kakuda park, well this park is listed on the world heritage list meaning the park follows the criteria having said that is must be very special right? With this in mind do you really think the construction of a mine is a good idea. Not to mention that uranium mining can be extremely dangerous as underneath the uranium mines there can be high concentrations of radon which leads to lung cancer not only this puts the miners in danger but possibly the local…

Albinism Have you ever laughed at someone who’s an albino because they looked like a freak? Did you even stop to think what it is like for them? People known as, “albinos,” have a genetic disorder called albinism. Since albinism is an ocular and appearance disorder, the symptoms and management have an impact on everyday life. The Genetics Albinism isn’t always obvious when you look, so it is important to know all possible symptoms. Albinism is usually when the hair, eyes, and skin become pale,…

psychiatrist experienced in treating schizophrenia usually guides treatment. Treatments include a psychologist, social worker, psychiatric nurse and possibly a case manager to coordinate care. Some of the medication for schizophrenia may cause serious but rare side effects which may make people with schizophrenia hesitant to take the medication. The most commonly prescribed drugs for treating schizophrenia is antipsychotic medications. For people who are willing to cooperate with treatment may…

cause (National Organization for Rare Disorders, 2016). It is estimated that one to two of every one-thousand babies born have hydrocephalus, making it a common cause of developmental disabilities (Hydrocephalus Association, n.d.). Each year an estimated ten-thousand people in the United States and Canada will be diagnosed with hydrocephalus (Hydrocephalus Clinical Research Network, 2016). Hydrocephalus seems to affect male and female populations equally (National Organization for Rare…

developmental delays, and seizures (“Encephaloceles - NORD (National Organization for Rare Disorders),” n.d.). Surgery to treat encephalocele includes placing the protruding tissue back into the skull or removing the sac. In this way, the surgeon tries to remove all of the protrusion without causing long-term neurological damage. Encephalocele often has a co-morbidity, the presence of two chronic conditions in a patient, with hydrocephalus, which is a disorder that causes excess fluid in the…

was diagnosed with Apert Syndrome. This was my first time hearing about the disorder. As I grew closer to the child, I learned more about his condition. This was a very sad case for me because the child was placed in foster care due to his family’s inability to complete the room in at the hospital. In this case, the child died because his trach came out. Anoxic brain injury was the result. Description Apert syndrome is a rare syndrome that occurs in utero, and is seen once the newborn is…