What´s Lesch-Nyhan Syndrome?

There’s no easy way to put this, so I’ll say it straight out. It’s time I faced up to the truth. I’m fourteen years old and I have Ishmael Leseur’s Syndrome. There is no cure. But, as it turns out, Ishmael Leseur’s Syndrome is the best thing that ever happened to me.

1. Cushing's disease is a hormonal disorder which is caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. It is sometimes referred to as hypercortisolism, it is fairly rare and it most commonly affects adults between the ages of 20 to 50. There is an estimated 10 to 15 of every million people who are affected every year.

Imagine being a kid, going to school and struggling a little more than everyone else. You're the tallest in your class, and different than your friends. You can’t pronounce words as well as they can, and they can’t really understand you. You have to have special classes to help with your learning disabilities. These things describe XYY Syndrome, also known as 47, XYY Syndrome; Jacob’s Syndrome; XYY Karyotype; and YY Syndrome. (NORD). It is a genetic disease in which males have an extra Y chromosome due to an error in cell division.

Six year old Eric is continuously brought to a local clinic by his mother Monica for treatment of abdominal cramps or according to the mother, appendicitis. Eric is the only son and lives with his mother. With each appointment, Eric symptoms become more progressive, resulting in his hospitalization. As his length of stay increases, Eric’s doctor, Dr. Spencer begins to suspect that something is wrong and suspects Munchausen’s syndrome by proxy, however, none of the other hospital staff members believes Dr. Spencer. As Eric remains hospitalized, his hospital roommate, Ben, begins to develop similar symptoms Eric has been presenting. Dr. Spencer would like to monitor Eric’s mother without her knowledge, but the

Lesch Nyhan Syndrome (LNS) is a rare condition that affects young children, almost exclusively males. Kidney stones, inadequate muscle control, and the urge to self-harm are all common symptoms of LNS (2). Extensive research is being conducted in order to gain knowledge on the exact causes and preventions of such a peculiar disease.

It is caused by a defective gene for dystrophin, which is a protein in muscles. Often, people with unknown family history of the condition find that they have MD symptoms. Boys are affected by the disease not girls. Sons of female carriers have a 50-50 chance of the disease whereas daughters have a 50-50 chance of being carriers. One out of every 3,600 male infants have Pseudohypertrophic MD. Because of it being an inherited disease, the risks included are a family history of Duchenne

Usually women have two X chromosomes while men have one X chromosome and one Y chromosome. There are some cases where babies do not have any of these arrangements mentioned above (Through the Wormhole video). As people study these kind of cases, they have realized that there might be more than two sexes. For example, I learned that some women can be born with “Swyer syndrome”, which makes them anatomically and physiologically a female but they never achieve female sexual maturity (The Gene: An Intimate History). When their cells were examined, they discovered that they had XY chromosomes in their cells. Basically, they were chromosomally male but anatomically, physiologically, and psychologically female (The Gene: An Intimate History). Goodfellow discovered the SRY gene. This gene was the determinant of maleness but it was flicked off on women with Swyer

Elhers-Danlos syndrome, EDS is a group of inherited connective tissue disorder. Elhers-Danlos syndrome is a rare genetic disease caused by defects in the structure and synthesis of connective tissue protein: collagen. Collagen is the most predominant component of connective tissues such as skin, tendon, cornea and bones, making up more than 90% of the extracellular matrix protein (Uitto, 1986). Collagen is a strong, fibrous protein found throughout the body. It provides strength and support to the skin, bone, muscles, blood vessels, ligaments and many tissues and organs in the body. Research statistics show that 1 in 5000 people have EDS. This rare disease is prevalent in men and women of all racial and ethnic backgrounds (EDNF, 2016). In the past, Ehlers-Danlos syndrome had more than ten recognized types, each differentiated by Roman numerals. In 1997, researchers proposed a simpler method to classify these ten types and reduced the number of major

In the United States, Phenylketonuria (PKU) affects about 1 in 10,000 to 15,000 newborn babies, making it a very uncommon genetic disorder (U.S National Library of Medicine, 2016). Phenylketonuria stems from an abundant buildup of an essential amino acid called phenylalanine that can become very dangerous when it reaches excessive levels (U.S.National Library of Medicine, 2016). The excessive buildup of phenylalanine is caused by an alteration in the gene which codes for the enzyme known as phenylalanine hydroxylase (PAH), which functions in breaking down the aforementioned essential amino acid phenylalanine (U.S National Library of Medicine, 2016). This genetic mutation is caused by an autosomal, recessive genetic mutation in chromosome 12 (Genetic Science Learning Center, 2016).

Paget’s disease (also known as osteitis deformans) is a chronic disease that affects bone growth, causing bones to become deformed and to be weaker than normal. In normal function, bone is continually being broken down and replaced by new bone, to keep the skeleton strong. In Paget’s disease, the cells called osteoclasts that break down bone, are overactive. This makes the cells that produce new bone, called osteoblasts, to work faster than normal. The resulting new bone is weak and of poor quality. The cause of the disease is unknown, but there is a strong genetic influence. Paget’s disease predominately affects people over the age of 40 years, and can occur asymptomatic. Early diagnosis can be made by X-ray, bone scan, and alkaline phosphatase

Outline the causes, incidence and risk factors of the identified condition and its impact on the patient and family. (400 words)

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

Loeys-Dietz Syndrome (LDS) is a genetic disorder that affects connective tissue in the body. To tell if someone has Loeys-Dietz syndrome, you can most likely see; widening or dilation of arteries, twisting or spiraled arties, widely spaced eyes, and spilt or broad uvula. Although, these are the main characteristics of Loeys-Dietz, not all patients suffer from all of these syndromes. LSD can also affect the bones, blood vessels, skin, and/ or organs. Other characteristics include: aortic aneurysm which is when the main blood vein has abnormal swelling, joints are flexible, possible scoliosis, etc. LSD affects each person differently and can only be passed down from a family member. Sadly, people who suffer from

Menkes Disease is a mutation on the ATP7A gene; the mutation creates an X-linked recessive trait that affects multiple systems in the body. As expected of an X-linked recessive trait a majority of the patients affected by this disease are males. The phenotypes for this disease are sparse and kinky hair that is gray in color. This due to the diseases impairment of the metabolism of copper in the body. The prognosis for this disease is usually death before three years of life, however, early copper–histidine treatment can cure some neurological symptoms that are associated with the disease.

Bipolar Disorders are considered complex because of the episodes that are experienced. They include dysfunctional mood, potentially including major depressive episodes, mild to moderate depressive episodes, manic episodes, and hypomanic episodes, which are often separated by periods of relatively normal mood. There are two types of Bipolar Disorders that I will cover in this paper. They include Bipolar I disorder (BP-I) and Bipolar II disorder (BD-II).According to the Epidemiologic Catchment Area Study, as cited by Kleinman, Lowin, Flood, Gandhi, Edgell, and Revicki (2003), the lifetime prevalence by race and ethnicity for BD - I and BD - II, are as follows: Caucasian 0.8% and 0.4%, African American