What is Bardet-Biedl Syndrome or BBS? 

They say a person needs just three things to be happy in this world: someone to love, something to do, and something to hope for.
— Tom Bodett

Bardet-Biedl Syndrome, or BBS, is a rare genetic disorder that can affect any and every major organ system. There is no cure. Less than 2500 people in the United States have been diagnosed with BBS. It is classified as a ciliopathy, which means it affects the tiny hair-like cilia or projections which are found all throughout the body. Cilia play a vital role in many different organs and areas of the body such as the eyes, kidneys, lungs, heart, GI tract, ears, etc. Once you understand that this disorder is a ciliopathy, you can grasp how it can affect literally every area of the body.

The primary features of this disorder are visual impairment, renal abnormalities, obesity, delay in motor skills, and polydactyly. Children will often lose their vision from retinitis pigmentosa by their teens. Obesity is very common, which can lead to diabetes, hypertension, and hypercholesterolemia.  Renal failure can sometimes lead to the necessity of kidney transplant.   Speech delays as well as other developmental delays are common and require speech, occupational, and physical therapies. Autistic-like behaviors are also commonly found.  Again, each person is affected very differently, and the severity of symptoms varies greatly from one person to the next.    

BBS is not well known in the general medical field. Most healthcare providers have never heard of this syndrome and many of the other rare syndromes that exist. Patients and their families must be their own advocates. There are ONLY two comprehensive specialty clinics for BBS in the world. One is in London. The other is the first and only BBS clinic in the United States, the Marshfield Clinic in Marshfield Wisconsin

Although this diagnosis can be devastating to families, ongoing research shows great promise for future treatments and therapies. Life with BBS can be very joyful and fulfilling. And we are ALWAYS hopeful for the future!