Why Are Genetic Conditions So Hard To Understand?

September 29, 2014

Although technically Rare Disease Day is in February, Rare Disease Day is actually every day for us.

One of our family members has a rare genetic disorder that impacts our daily decisions. Genetic diseases are not very well understood by the general public and for good reason. It is only recently that the medical and scientific fields have begun to understand the human genome. The completion of the Human Genome Project in 2003 provided, for the first time, a completed sequence of all 3 billion base pairs which make up human DNA. The goal of this project was to provide the tools to understand genetic factors in human disease, allowing for new strategies in their diagnosis, treatment and prevention. One of the tools that became available as a result of this project was genetic testing.

Genetic testing is a medical test that identifies changes in chromosomes, genes, or proteins of human DNA. Once identified, these changes lead to a diagnosis of a genetic disease. Not all genetic diseases are rare. Some, such as Down’s Syndrome (trisomy 21), are common and you are probably familiar with them. Rare chromosome disorders include extra, missing, or rearranged chromosome material in smaller and more complex areas of DNA than those associated with more common genetic disorders. Individual types of chromosome disorders can be quite rare. When my family received a diagnosis of a chromosome deletion from one of the best hospitals in the country, we were told that there were 11 other identified cases at the time. Currently, the availability of testing has increased this number.

Symptoms of a genetic disorder often include physical problems, health problems, learning difficulties and behavioral issues. The extent each individual is affected in these areas depends upon the specific genetic material affected. Even then, individuals missing the same amount and location of genetic material exhibit an array of different symptoms. This makes treatment a challenge. Research is greatly needed to better understand these disorders. Currently, it is estimated that 95% of all rare genetic diseases do not have an FDA approved drug treatment. In fact, there are less than 400 treatments approved by the FDA for the almost 7,000 rare diseases that have been identified.

Although individual rare disease diagnosis affect a small number of people, collectively over 30 million people in the United States have been diagnosed with a rare genetic disorder. Despite this number, when a patient receives a diagnosis of a rare genetic disorder it is more than likely that their general practitioner will never have heard of it. Even local hospitals and treatment facilities are usually unfamiliar with these rare diseases. This makes treatment of both symptoms related to the disorder and everyday illnesses very difficult. When we received our diagnosis, our geneticist told us “we will learn from you.” Help promote awareness of rare genetic disorders in February and every day by wearing jeans or a jean ribbon.


Colleen Clark is an attorney, blogger and mother of two, one of whom is wonderfully “Rare.” Learn more about Colleen Clark and Cashmere Smiles on their website here.image

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