Tuesday, January 1, 2013

What is BBS?

Bardet Biedl Syndrome (BBS) is a rare genetic syndrome affecting many of the body’s systems. The syndrome affects approximately 1 in 160,000 people in North America. However, many of the people affected have likely not been diagnosed because most medical professionals are unaware of the syndrome and are unlikely to have seen other cases.

BBS can be as variable as it is rare. The manifestations and severity can vary dramatically from person to person, even between siblings. Common characteristics include retinal degeneration leading to blindness, obesity due to abnormal metabolism and increased hunger, and kidney disease potentially leading to renal failure.

As there are many characteristics to this disease, research into treatment needs to start with a foundation of information. In 2014, Dr. Bob Haws and the Marshfield Clinic developed the “Clinical Registry Investigating Bardet Biedl Syndrome” (CRIBBS). This database, the first of its kind for BBS, will house a collection of medical information of BBS-affected individuals. This information will be updated yearly so that researchers can study the disease over time. Among the many benefits of developing this database:

* Help scientists to better understand the disease
* Help scientists understand the course of the disease over time
* Help accelerate and facilitate the research that is needed in order to develop treatments for each symptom
* Help create medical protocols for clinicians with BBS patients

"Bring Light to BBS"

Bring Light to BBS is an organization founded by a group of families who are affected by Bardet Biedl Syndrome (BBS). Our mission is to improve the treatment and care of people with BBS by raising funds for research and education for parents, medical professionals and researchers.

Bring Light to BBS focuses on raising funds for research & education in order to improve treatment & care of people with Bardet Biedl Syndrome (BBS).

What is the I Love Lucy Project?

Lucy has a syndrome called Bardet-Biedl (BBS) which causes blindness, obesity and many other health issues. To read more about her diagnosis, click HERE.

Lucy is one of thousands of children who's families are fighting to find cures for this debilitating syndrome. The goal of the "I Love Lucy Project" is to work with doctors and scientists to stop the effects of BBS before it's too late.  

Recently the I Love Lucy Project has joined forces with other families with the same goal under one umbrella group called "Bring Light to BBS."  We are all parents and families fighting for the future of our children.