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Getting Diagnosed

Getting a correct diagnosis is often a major challenge for someone who has a rare disease. Many people are unable to get a diagnosis or are misdiagnosed. Here's how to speed up what can be a long, frustrating experience.

More About Rare Disease Diagnosis
Rare Diseases Spotlight10

One Reason to be Grateful for Bedbugs

Tuesday August 31, 2010

We all shudder at the thought of a bedbug infestation -- and those of us in cities that have been blanketed with the apple-seed-sized crawlers are dealing with the very real concerns of how to keep them out of our homes (hint: it's extremely difficult). But an article in today's New York Times points to one feature of bedbugs that we all should be very happy about: they do not spread disease. That is, not as far as anyone has been able to tell so far. Researchers have fed the insidious insects blood with the AIDS virus, hepatitis B, and other viruses, and never did the bedbugs transmit the pathogens to their victims. Let's hope they never change! At least in that respect.

The CDC and the EPA have issued a joint statement about the recent spread of the critters; read it here.

Dengue Fever Resurfaces in Key West

Thursday July 15, 2010

For the first time in 64 years, there's evidence of a dengue fever outbreak in the continental United States. Last fall, on a tip from a New York resident who came down with the mosquito-spread illness after traveling to Key West, researchers started collecting blood samples from a random selection of residents in the area. They found that 5% of the samples had the dengue fever virus or its antibodies, indicating that about 1,000 Key West residents may well have come into contact with it.

The chief of the dengue branch at the Centers for Disease Control and Prevention, Dr. Harold Margolis, issued a statement yesterday, saying, "We're concerned that if dengue gains a foothold in Key West, it will travel to other Southern cities where the mosquito that transmits dengue is present, like Miami."

Symptoms of dengue fever include a sudden high fever of up to 104 or 105 degrees, severe headache, muscle aches, nausea, vomiting, and rash on the torso, arms, legs and face.

Former 76er Manute Bol dies

Tuesday June 22, 2010

Manute BolThe 47 year-old, 7-foot-7 Sudanese former NBA player had acute kidney failure and a rare skin disorder called Stevens-Johnson Syndrome, in which the skin  and mucus membranes blister and shed in reaction to an infection or a medication. It's thought that Mr. Bol developed the severe rash after being treated for a kidney infection at a hospital in Sudan, where he was working to build a series of schools with the organization he founded, Sudan Sunrise.

FDA Approves New Drug for Pompe Disease

Thursday May 27, 2010

The Food and Drug Administration has just approved a new drug to treat those with late-onset Pompe disease. It's called alglucosidase alfa (Lumizyme).

Pompe disease affects between 5,000 and 10,000 people globally. It's a rare lysosomal storage disorder caused by a lack of an enzyme called acid alpha-1,4-glucosidase. This lack leads to a build-up of glycogen, which eventually causes muscle damage, and can be fatal when the respiratory and cardiovascular systems are affected.

Lumizyme replaces the necessary alpha-glucosidase (GAA) in the body, reducing the glycogen buildup. The drug, which was approved based on a trial of 90 patients between 10 and 70 years old, has not been approved for younger patients with Pompe disease. The other effective drug on the market, Myozyme -- which has been approved for younger patients --  is currently in short supply and is being reserved for those with Pompe disease under 8 years old.

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