Thursday, February 28, 2013

Rare Disease Day 2013: Rare Disorders Without Borders


Today is Rare Disease Day. Rare Disease Day is an international day of recognition for those affected by a rare disease. It is a day to raise awareness, connect with others and help support organizations who help fund research for rare diseases. As you know I am a huge supporter of the FIRST Foundation and Ichthyosis Awareness. But today is a day to recognize more than just Ichthyosis (there is a whole month dedicated to that!). It is a day to recognize all individuals living with or caring for someone with a rare disease.

My goal this year for rare disease day is not only to raise awareness for Ichthyosis but help raise awareness for other rare diseases. I also plan on educating myself today by reading other shared stories on Rare Disease Day's website or facebook page. I cannot expect to want everyone to learn about Ichthyosis and not practice what I preach without learning about other rare disorders as well. Below is the official video for Rare Disease Day: Rare Disorders Without Borders. (I personally LOVE 2012's video and included that too).

Rare Disease Day's Official Video 2013

There are a few rare diseases that affect my life personally and the lives of people I know. They range from skin, to muscle, to physical, to heart, to neurological challeneges. One rare disease, in particular that deserves awareness is another skin disorder, Epidermolysis Bullosa. I could never imagine living with or caring for someone with it. It is a devastating disease in which the skin is so fragile it blisters with the slightest friction. These blisters pop leaving open wounds which are susceptible to infection. Bandaging is required to keep the wounds clean and to protect the skin which many insurance companies will not cover. It is as meticulous Ichthyosis if not MORE. Those with very severe forms also have very sensitive mucus membranes and tissues inside their bodies. This causes deterioration from friction and tube feedings are required. Those affected with the severest forms are given the life expectancy of maybe 2 years. To learn more or help support research for a cure go to: The Dystrophic Epidermolysis Bullosa Research Association (DebRA) or I Refuse EB.

Another rare disease which affects a family I know, is called Duchenne Muscular Dystrophy. This disorder is genetic and is a progression of muscle deterioration. It is caused by the absence of protein which keeps muscles intact. This progressional disease primarily affects boys. A huge concern regarding this disorder is how it can affect the heart. Management of this disorder include braces, standing frames or wheelchairs as the body looses its strength due to the muscle deterioration. Cardiac care and respiratory care are extremely important as well as extensive physical and occupational therapy. Life expectancy for those affected was late teens, until recently, many cases survived into their 30's and even 40's and 50's. To learn more click HERE.

Trisomy 18 is yet another rare disorder. It  is caused by an error in cell division with symptoms that range from heart defects to developmental delays or nuerological issues. Not only is this disorder associated with severe developmental delays, many affected also have other medical complications which are life threatening. This disorder tends to affect boys but is not uncommon to affect a girl. Intensive Care is required at birth and according to Trisomy18.org less than 10% of of the babies discharged from the hospital will survive their first birthday.

Evan and his buddy (affected by Trisomy 18 and currently 3 1/2 years old!!!!!)



Here are some FACTS about rare diseases;

-There are approximately 7000 different types of rare diseases and disorders, with more being discovered each day.

-If all the people with rare diseases lived in one country, it would be the world's 3rd most populous country.

-In the United States, a condition is considered "rare" if it affects fewer than 200,000 people, in the United Kingdom a disease is considered rare if it affects fewer than 50,000 citizens per disease.

-80% of rare diseases are genetic in origin and thus are present throughout a person's life even if the symptoms do not immediately appear.

-30% of children with a rare disease will not live to see their 5th Birthday.

-350 million people globally are fighting rare diseases.

-According to the Kakkis EveryLife Foundation, 95% of rare disease have not one single approved drug treatment.

-Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

Rare Disease Day is an important day for recognition of those living with a rare disease. Just reading the facts above send shivers down my spine. As rare as Ichthyosis is, we are very lucky to have the FIRST Foundation and current research looking for better treatments and a cure. But we have treatments. Some do not have treatments, some rare diseases do not even have foundations supporting research. So as much as I would like to promote Ichthyosis today, it really is a day to bring awareness to the rare diseases who do not have the proper treatments or any for that matter. Thanks to Rare Disease Day and The Global Genes Project they are trying to make it possible to help fund research for treatments and therapies by raising awareness and creating hope for all affected.

Rare Disease Day 2012 Official Video (My personal favorite!!!)

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