Essay On Rett Syndrome

I am choosing to learn more about Dravet Syndrome which is a type of epilepsy. I have chosen this disease because I met a girl at work who is about my younger brothers age who has this. Her parents came in asking if we would do a fundraiser for her and I got to spend time with them and learn more about this disease. We held a fundraiser at Rita’s and helped raise over $150 and taught people about her disease.

No matter how it is administered when used on a long-term basis, the complications become very abundant. Adequate nutrition is often not provided due to problems with diarrhea, tube clogging, and aspiration.

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

Some of the immediate physical complaints include constantly feeling cold, bloodshot eyes with dark circles, finger calluses, dizziness, weakness, lackluster hair, moodiness, insomnia, no menstruation, swollen glands, weight loss, sore throat, or dry skin. Some of the long-term effects include extreme weight loss, gastrointestinal pain, diarrhea and/or constipation, malnutrition, loss of tooth enamel,

can be dreadful for the people diagnosed with this disease, as well as for their caregivers. One of

Some of the most common side effects include decreased breathing and most of the users that do this drug end up becoming physically dependent. Other side effects can vary from person to person but some of them are having constipation,

Retinitis pigmentosa is a group of inheritable diseases that is characterized by gradual deterioration of the photoreceptors in the retina. The photoreceptor cells in the retina, rod cells, are light sensitive cells that are able to sense low levels of light. The frequency of retinitis pigmentosa is one in four thousand births (Deng et al., 2015; Fahim et al., 2012; Haddad et al., 2016; Shu et al., 2012) People affected by retinitis pigmentosa will typically exhibit symptoms of night-blindness first, and this will precede a loss in the patient’s visual acuity field that starts from the outer edge and gradually moves inward resulting in a much smaller visual field and loss of peripheral vision, also known as tunnel vision (Haddad et al., 2016).

In another, milder form of Tay-Sachs (called late-onset Tay-Sachs), the disease causes muscle weakness and slurred speech, but sight, hearing, and mental capabilities remain intact.

They will also find it hard to understand others, and will slowly lose their words or repeat themselves. They may also lose mobility, gain eating and weight loss disorders, and gain problems with continence, the ability to control bladder or bowel movements. These actions from the patient may cause problems when trying to be administered medications. Being that the patients may gain eating disorders or lack eating of can certainly change how the prescribed medications affect their bodies.

                 Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010). The onset of a period of regression is sometimes sudden.  Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze

 Typically, people who have this syndrome require a sizeable about of assistance throughout their lives because the combination of their symptoms can be a

     There are also many disorders that are possible. A person can suffer from: general anesthesia, as well as nausea, vomiting and fever. Infection, hemotoma are also possible. (collection of blood that causes: swelling pain and brushing.) Also very dangerous is the skin necrosis- when the tissue dies and blood flow doesn’t get to the skin. This can be caused by smoking, cortisone like drugs, implant that are too large for the available space (Segal 4).

Mouth, eye, skin, joint, and vascular complications (related to the inflammatory activity of the disease).

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of

For infants suffering from the lethal neonatal form of the condition, most could not survive their first year. For those sufferring from the serious infantile hepatocardiomuscular form, they are more prone to developing fatal heart issues and having a shortened lifespan with varies medical concerns. For those with the myopathic form of the condition, they mostly have a normal lifespan despite occasional problems with their muscles. The aforementioned form is typically within good control and would enable the affected individuals to lead a life of good