Morquio Syndrome In Freak The Mighty

The book Freak the Mighty by Rodman Philbrick is about two boys named Kevin and Max. Neither one of these boys are exactly normal, “freak” (a.k.a Kevin) is physically handicapped and was diagnosed with Morquio Syndrome. Freak is abnormally short but extremely smart. On the other hand, we have Max. Max is extremely tall, but he has LD (Learning Disorder) where he has trouble with reading and writing. Max describes himself as a “butthead” where he says “I never really had a brain until Freak came along”. Having a good friendship means learning more each day, helping one another out and fighting for each other.

One in every 5,000 new borns can inherit this disease that is characterized by harelip, cleft palate, severe defects to of the eyes, brain and circulatory system. Some affected newborns will die within a year.

In the book Freak The Mighty we learn not to judge people by first impressions or looks because you can find a new friend. Max is a really big kid that becomes best friends with a small kid named Kevin with a disability called morquio syndrome. Max was more than triple Kevin's size but Kevin didn’t really care and he

Morquio syndrome is when the metabolism does not have enough or is missing a substance. These molecules are called glycosaminoglycans. When the body does not produce enough enzymes, serious problems can happen. Morquio A is a recessive inherited disease. Most of the time the disease shows up in 2 to 3 year olds.

Kevin (Freak), One of the main character in Freak the mighty by Rodman Philbrick is introduced by “this midget kid , crippled like humonroid”. It seemed like he was always had a task every day. Later in the book it reveals that he is a really smart kid who is funny and can do

U.S food and drug administration (FDA) are trying to approve BENLYSTA as a treatment for autoimmune disease Lupus. BENLYSTA would become the new treatment for Lupus in 52 years. The chief Executive had issues a statement about that people are excited that they had found a new medical breakthrough to help with Lupus. The people with Lupus voices were heard loud when they heard that there was a breakthrough coming. Each person is unique, and they all hope that BENLYSTA is approved. FDA is still running testes to make sure that it’s affective to all case of Lupus.

The Morquio syndrome is a disease that affect people as soon as they are born. In the movie The Mighty Kevin has this disease and it affects the movie greatly. The disease isn’t noticeable until about the age 1 to 3. The disease in the movie has him using crutches to help him walk which is correct for the disease. In the movie they point out how his spine is sticking out, which is also correct.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

Dr. Schadt’s vision is to manage this area of research, and the large amount of data generated,

Miller-Dieker lissencephaly syndrome (MDS). MDS features include classic lissencephaly (incomplete or absent gyration of the cerebrum), craniofacial dysmorphims, mental retardation and intractable epilepsy. MDS is a life-shortening disease, with death most often occurring during early childhood (Dobyns, W.B., Curry, C.J.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet 1991. 48, 584–594; Nagamani, S.C., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Research indicates that small molecules are the most common and more easier form of drug therapeutics. Small molecules are easier and more cost effective to produce. However because they are chemically produced and are ingested through tablets, it makes it difficult for them to have a lasting affect within the body. Researchers are looking into using biologics as an alternative form of therapeutic for certain diseases. Biologics are naturally synthesised from various sources. It has been known that biologics would have a longer “life expectancy” within the body because it would be given intravenously, directly into the blood stream avoiding it from being broken down by the G1 tract which would occur with a small molecule (Bayer HealthCare,

In July, 2006, FDA approved the drug Elaprase, before that this drug was not aloud to be sold in the United States. Now Elaprase is one of the major treatments for Hunter syndrome. This particular disease is known to be found in children 1 to 3 years of age, this disease creates a defect in the human body by not manufacturing the chemical iduronate 2 sulfatase. The human body needs this chemical to help break down the sugars made in the body. Symptoms found in having this disease could be joint stiffness, and growth delay. In severe cases one may see lung and heart problems. Elaprase was approved mainly for the fact of how much success it had on patients. After the 53 week trial of Elaprase many patients that experienced the infusions compared

Lesch-Nyhan Syndrome (LNS) was first described at John Hopkins Hospital in 1964 by Micheal Lesch and William Nyhan in two brothers with an unusual set of symptoms. Both brothers presented severe retardation of motor development, choreoathetosis, dystonia, an enormous amount of crystals in the urine (later determined to be composed of uric acid), and most strikingly, self-mutilation (1). Upon publication of their results, other cases were recognized across the world, all in young males in an inheritance pattern consistent with an X-linked Mendelian genetic disorder (2). More clues into the cause of LNS were provided by further studies by Nyhan, which demonstrated that azathioprine, a drug known to lower levels of uric acid in the blood, was

Fortunately, doctors and scientists are constantly developing new methods and techniques to fight this condition.

     Future treatments for the disease are as follows. In the future people may be able to inhale insulin rather than take painful injections. There are also