Detect Uniq Diseases So Complicated
Every disease can be cured properly. But not everyone is lucky enough to get the right treatment for the disease difficult to detect until the patient must undergo a critical care or died.
Many cases of a rare disease that has not been detected but was complicated by other illnesses. So many victims of a rare disease who died in vain because it can not be detected.
“Most of the rare diseases causing chronic varied. If you can not cure the condition will lead to deteriorating health,” said Carol Dezateux, Institute of Child Health, University College London, as quoted from the TimesOnline, Tuesday (16/3/2010).
This rare disease sometimes have symptoms like other common diseases such as nausea and weakness. But if common diseases can be treated is not the case with rare diseases. Because the difficulty of detection, a rare disease will be fatal for the patient.
As examples of a rare disease who experienced Katy Frost (14 years) is nearly dying and needs to get a breath of surprise to wake him because of he loss of appetite.
Initially, Katy was a summer vacation with friends in the year 2005 went to a place called the Isle of Wight. It was so bad and going fast. On the first night of vacation, Katy became not eat. On the second day he ate little and became very sleepy. Katy slowly losing consciousness when he was taken to hospital by ambulance.
Emergency treatment carried out at Southampton General Hospital. Doctors still wondering what happened diseases if dehydration, infection or meningitis attack. Doctors at the hospital was finally call the experts at Great Ormond Street Hospital for fear of organ failure occurred in Katy body.
“Officers tried to find out what happened to Katy that may be related to problems that had ever happened in the past. But the whole time he’s getting looks worse and worse,” said his mother Cora Durkan.
Katy had a dying condition and should undergo cardiac shock and electric in 14 other places to protect the brain. Katy’s body must be equipped with a small pump equipment containing drugs so that stable blood pressure and heart better.
Fortunately Katy survived after being diagnosed MCADD (Medium Chain Acyl CoA dehydrogenase deficiency / em-cad). This disease can pose a risk of complications such as seizures, difficulty breathing, coma to sudden death.
Sir Liam Donaldson, the Chief Medical Officer in the UK tells us what is experienced by Katy MCADD which could prove fatal. These conditions make it vulnerable to disease and various symptoms such as nausea, drowsiness and asthma.
The disease occurs because the enzyme the body does not work perfectly. When in the process of eating, the body should break down stored fat to produce energy. But the problem is happening in your body it lacks Katy is one of the enzymes needed to do so.
Therefore he does not get energy from fat and body rely on glucose. When the body does not eat regularly sleep came. While fat deposits that can not be processed eventually become toxic and cause nausea, diarrhea.
Control is to monitor the diet and regularly consume glucose when you’re sick. If not diagnosed, can make patients MCADD coma to sudden death.
Katy cases only a few of the examples of rare diseases that initially seem trivial but can be fatal berakiba. Katy including 1 from 3 million UK residents who suffer from rare diseases.
According to Sir Liam, at least there are 6000 rare diseases in less than 5 years which hit 10,000 people in the UK. This figure is more and more when calculated globally. Generally this rare disease attacking the nervous, metabolic disorders, cancer, muscle disease and heart defects.
Nearly half of those who have a rare disease difficult to get the right diagnosis. And the problem will come when these rare diseases has led to serious complications and threatening the lives of sufferers.
European Organization for Rare Diseases found that more than a third of cases of Duchenne muscular dystrophy diagnosis initially got an error. For the case of Fragile X syndrome is almost as much as 40 percent of diagnoses. This syndrome causes brain damage, which causes mental retardation and other rare diseases.
Therefore, according to Sir Liam, medical progress is needed in order to diagnose a variety of rare diseases quickly. So they can avoid the risk of suffering from complications or death in vain because they have not had time to be saved.
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Posted: March 16th, 2010 under medical clinic.
Tags: Detect Uniq Diseases So Complicated, Uniq diseases
