Rare Genetic Disorders

FODs are sometimes called “orphan” diseases because relatively few people have one and they are not well known or understood. Some are so rare doctors can go through their entire careers and never treat a case. They are also genetic in nature, meaning they do not develop in response to bacteria, viruses, or other external stimuli. One is simply born with a FAOD. These affect the body’s metabolism of fats, so are called “inborn errors of metabolism” or “metabolic disorders.” Because these disorders are in nearly every cell in the body, there is no cure for FAODs, only treatment.

Everyone knows someone with cancer or heart disease. Well known challenges dot televisions and internet sites in support of Multiple Sclerosis or Lou Gehrig’s Disease. In contrast, few people know what a FOD even is unless someone in their family has one. Even then, information is scarce, hard to understand, and may be so old it is counterproductive. Many FODs are similar, but diagnosing them can be both difficult and expensive. As treatment is determined by the specific gene affected, specificity is important.

The first FOD was described in 1973 and since then many countries and states have added testing for various FODs to their newborn screening tests. So in the last decade, many more individuals have been diagnosed and treated from birth. It is believed by many scientists that such testing has reduced the number of Sudden Infant Deaths (SIDS). It has also created the need for more research, more general information, and more support for families affected by FODs.

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