Sunday, January 29, 2012

RARE Disease Awareness

World Rare Disease Day is in exactly 30 days! Do you know why 30 is a significant number? Because 30% of children with rare diseases die before their first birthday. In honor of that, today the The Global Gene Project is having a "blog hop". After you read my post, please click on some of the links at the bottom and view the other blogs!

First, some facts on rare diseases:
It is estimated that 350 million people are affected by rare diseases. That includes over 30 million Americans (1 in 10 of the population). That is more people living with rare disease in the U.S. than people living with cancer worldwide! There are more than 7,000 rare diseases, with some affecting less than 100 people (75% affecting children). 80% of all rare diseases are genetic. ALL rare diseases are chronic, life threatening, and fatal (only 5% have any treatment). Over 50% of rare diseases have no foundations or advocacy groups

Epidermolysis Bullosa:
Raul is affected by Epidermolysis Bullosa, a rare genetic skin condition. In the U.S., 1 in 50,000 people are affected. While in the UK, it is 1 in 17,000. EB has been coined "the worst disease you've never heard of", and I agree wholeheartedly! EB does not discriminate regarding race or gender. People with EB live every day with pain from bodies covered in blisters and open wounds, both internally and externally.

Wound care takes hours daily, and most children need to be heavily medicated to endure the associated pain and anxiety. These non-healing wounds often leave to Squamous Cell Carcinoma, one of the leading causes of death among EB patients. Another major issue is with infections. Patients are always fighting infections, and many deal often with septicemia. Raul has had two episodes of septicemia, meaning his infections spread to his blood stream. This infections are VERY dangerous! There is no cure, we can only treat the wounds and other symptoms as they come.

Most people with severe EB, like Raul, need feeding tubes to keep them alive, as their bodies require so much more nutrients than that of a healthy person their age. Dental issues are a real problem for people with EB due to fused tongues, contraction at the sides of the mouth, and scarring within the mouth because of oral blisters. Many will have to have their teeth removed, as it is nearly impossible to keep the teeth clean and healthy. These issues also affect the person's ability to eat.

People also need surgeries to dilate their esophagus, which becomes narrow due to blisters and scarring, which affects their ability to eat and drink. Continuing down the GI tract, constipation is also an issue, as well as fecal hoarding due to the serious pain of having bowel movements. Both due to poor nutrients, and open wounds, most people with EB deal with anemia as well. People with severe forms of EB often need blood transfusions, as their levels get much too low. Most take iron supplements, and sometimes IV infusions.

There are many types of EB, including Simplex, Dystropic, and Junctional. Almost all babies with Junctional-Herlitz EB die before their first birthday. Raul has Recessive Dystrophic EB, which can be considered the worst "living" form of EB. These patients can live very short lives, but may live average lifespans. This type of EB is disfiguring, and the hands and feet usually fuse. Painful surgeries are available to separate fingers and toes, but they usually just fuse back together. Many patients with RDEB, and other types of EB, are in wheelchairs due to the pain and difficulty of walking. Mild alopecia can also be associated with severe RDEB.

As one adult with EB says, "It may sound like we have horrible lives but we do really well and find ways to be active and involved and pursue our dreams : )". I have seen this be true with ALL the EB patients I have met either in person or online (from babies up to adults). They are surprisingly happy, and live life to the fullest. It is part of who they are, and to them this is just life. Raul, and his other EB friends, know no different. They are more courageous in one day than many of us will have to be in our lifetimes! Please help us spread EB Awareness, and work towards one day having a CURE!


  1. Thank you for introducing Raul! I've been following several EB blogs for a long time now and it breaks my heart, the pain and suffering these precious kids endure. I truly believe there will be a cure for EB-it should be the first disorder the whole world works to cure together. These kids shouldn't have to suffer another day.

    Bless your family, thank you for your post!

    Mindy~(fellow rare disease blogger!)

  2. Caroline, thank you for introducing me to EB. I've never heard of it and would have never known about this disease. It breaks my heart to read of such a painful condition. Raul is such a cutie.

    Vicki (a blog hop mom)