by Robbert Carlo
Description
 Hello and welcome to the Gaucher's Disease Wiki!
The first thing you should know about Gaucher's is that there are three different types.
Type1: The most common 95% of all cases are type 1. It causes your liver and spleen to be bigger, bone pain and broken bones, and kidney problems. It occurs at any age.
Type2: This type is the least common 2%,which is common in infants they get severe brain damage and die by age 2,
Type3: This is the second least common 3% liver and spleen get bigger brain damage comes slowly.
webscout.com (1) Gaucher's is caused by a shortage of an enzyme called glucocerebrosidase. This enzyme breaks down fatty substances in the body. Without it, the fat can build up in your brain and other organs, and within your bone marrow. Gaucher's is passed along in a pattern of inheritance called "autosomal recessive." Both parents need to possess the genetic mutation in order for their child to develop the disease. But even when both parents have it, there is only a 25 percent chance that the child will develop Gaucher's. Jewish people from Central and Eastern Europe are most likely to carry the mutation and to develop the disease.
Treatment
The first way of treating Type 1 Gaucher's disease was to remove the spleen and to perform a bone marrow transplant. Both of these operations are very risky. In the past ten years, though, it has become possible to purify a chemical called alglucerase, which makes up for the enzyme that Gaucher's patients lack, and provide it through intravenous injections. This drug, whose brand name is Ceredase, reduces the body's total supply of glycolipid and improves a person's symptoms. However, it is an extremely expensive drug. Recently, scientists have learned how to use genetic engineering to produce a related drug, called Cerezyme, and it has proven effective for the treatment of Type 1.
In 2003, the U.S. Food and Drug Administration announced a new and simpler treatment for adult patients with mild or moderate Gaucher's disease. It is an oral therapy called Zavesca that is meant for patients who cannot tolerate enzyme replacement therapy. These patients have allergies or hypersensitivity that makes the oral treatment a better choice for them.
For more information, go to http://www.gaucherwest.com/.
Research There are many ways that Gaucher's is being studied. The University of Pittsburgh, in Pennsylvania, is studying enzyme replacement and gene therapy. Other research is focused on clinical trials, which is a method of testing therapy on a group of patients with the disease. Different therapies are being researched; these include drugs, bone marrow transplantation, enzyme replacement and therapy and gene therapy. People can find out more about clinical trials by visiting the web site http://www.clinicaltrials.gov. At present, there are 34 trials for Gaucher. Some are in process, and some have been completed. A trial that is recruiting patients now is International Collaborative Gaucher Group (ICGG) Gaucher Registry. www.kaiserpermanente.org (National Organization for Rare Disorders, Inc. database) (2) a day in the life
Imagine someone with Gaucher’s disease Type One as he drags himself through another day – hoping that finally on this day they will find a better cure.
He wakes up feeling groggy after a poor sleep due to the bruises on his arms and legs that come from low levels of blood clotting cells. Shaking the sleep from his head, he goes to the internet to check on the latest clinical trials of new treatments for his disease, because there could always be some good news. But today isn’t his lucky day, so he makes himself breakfast, a simple meal of coffee, cereal, and toast. But with extra coffee, since by now he’s feeling tired – a common symptom of Gaucher’s Type One that can strike throughout the day. Chronic fatigue is caused by low levels of circulating blood cells and an abnormally large liver or spleen.
By the middle of the day, our Gaucher’s patient is ready for a trip to his doctor, but a small problem gets in his way. He can no longer drive due to the painful weakening of his bones, making it impossible for him to seat in the driver’s seat of a car. Dull or intense bone pain affects him through most of the day, because of the lack of blood traveling to the bones in his body. Luckily, he can call his neighbor, who works at home, and usually get a ride where he needs to go. At the doctor’s, our Gaucher victim gets the next stage of bone marrow transplantation, which requires painful injections with a very long needle and a lot of soreness afterward. He will sleep even worse tonight!
In the afternoon, he rests and watches TV, and checks the Internet a few more times before making a simple dinner. He has to be careful late in the day, because if he trips and falls, or even bangs his elbow hard against a desk, he could suffer a very bad fracture. Fractures are a common danger for Gaucher’s patients because their weak and deformed bones are so easy to break. Our patient must move slowly and carefully, and avoid any kind of sport or exercise.
After dinner, he watches more TV, calls a friend, and then hooks up with his Gaucher’s group in the special chat room they have formed on the Internet. This is his favorite time of day. He can give and get advice, or share jokes and gossip or rumors about new treatments for the disease. Most of all, he can relax, knowing that he’s among friends who know what he’s going through. He stays in the chat room for a long time, and has a little too much to drink because it really eases the pain.
As he gets into bed, our patient tries not to think about tomorrow, because it will be just more of the same.
Current Events
An important medical expert accused the head of the leading organization that screens for Jewish genetic diseases is “playing God” by withholding information from people who have tested positive for Gaucher’s disease. Gaucher’s is more likely to strike Ashkenazi Jews than any other group, at a rate of one for each 450 people. It is the most common of Jewish genetic diseases.
Dr. Stuart Ditchek, director of the Jewish Genetic Diseases Consortium, a nonprofit organization, is a big supporter of genetic testing. He told the media recently that Rabbi Joseph Eckstein, the founder and director of Dor Yeshorim (Generation of the Righteous), the largest screening program of its kind, tries to persuade people against testing for Gaucher’s so that young men and women who may be carriers won’t be afraid to marry each other. http://www.thejewishweek.com/viewArticle/c36_a14399/News/New_York.html
Bibliography
Many patients with Gaucher disease suffer financially as well as physically because the only drug that treats the condition can cost hundreds of thousands of dollars a year. But now a group of experts says that many patients can lower their costs without hurting their therapy by using smaller doses. The panel was formed by the National Institutes of Health to study how victims can manage the disease. It concluded that many of them respond well to lower doses of the drug, and that doctors should prescribe these lower, less expensive doses. http://query.nytimes.com/gst/fullpage.html?res=990CE2D71238F93BA35750C0A963958260 http://www.investmentguide.co.uk/gaucher/living.htm http://www.childrensgaucher.org/research/familystories/caffrey.htm |
good so far, finish though
whos is this
Great job so far
Keep up the great work
Good start. I look forward to reading more.
add some pics its great whos is this
good but needs more info great job, but who's is this?
i hope u get A+
your name is robbert carlo, says it at the top.
but other than that
im with monica
hope you get a n a+
thanks a lot i just need a little more time
i liek ti just some more content and your good to go
your writing is good and easy to read. good work
im not getting an A but at least C
thank for all the comments