Do you know what is considered a rare disease? It is any disease that affects less than 200,000 people. The Orphan Drug Act of 1983 defined this for us. In the United States, there are almost 7,000 rare diseases and they affect almost 30 million people. That means in the United States, nearly one in ten people suffers from a rare disease. Rare Disease Day is celebrated on the last day of February so that makes it February 28 this year. It seeks to raise awareness about rare diseases. 2013 marks the fifth Rare Disease Day celebrated in the United States. It is important to raise awareness of Rare Diseases to help improve services and research for these diseases.
The National Organization for Rare Diseases (NORD) shares information on many of the rare diseases. What are some of the Rare Diseases?
Homocystinuria is a metabolic disease in which a person excretes high levels of homocystine in the urine. The cause is often a result of missing enzymes and if caught early enough, it can be treated with a low protein diet and nutritional supplements, such as pyridoxine, vitamin B-12, and folate. This disease is usually diagnosed through newborn screening. Betaine is a medication available to lower levels of homocysteine in the body.
Tyrosinemia - Type 1 is another metabolic disease in which the body is missing the enzyme necessary to breakdown the amino acid, tyrosine. If the enzyme is missing, tyrosine levels build up and cause liver damage. This is often diagnosed as a result of newborn screening so prompt treatment can begin to prevent life threatening complications. A diet low in phenylalanine and tyrosine is necessary and the drug, nitisinone, has been approved as well.
Menetrier Disease is disease that affects the gastric folds in the stomach. The cause of the disease is not known although Cytomegalovirus and H. Pylori bacteria have been suspected. Those who have this disease may present with different stomach symptoms such as pain, nausea, or vomiting, but it can vary widely from person to person. Some people also suffer protein loss so a high protein diet is often prescribed to combat protein deficiency. Various therapies have been used to combat this disease that center on getting rid of suspected infections and as a last resort a partial or full removal of the stomach.
These are just three of 1,200 rare diseases that NORD maintains information about. NORD is a vital resource for those who have just been diagnosed with a rare disease as it will give them information and resources. As, February 28 approaches, remember that there are many diseases that have yet to be conquered and be aware that patient advocates have really pushed for research and financial incentives to find cures for these and other rare diseases.
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