Bardet-Biedl Syndrome (BBS) is a rare genetic condition that affects many parts of the body, and for families like ours, it shapes daily life in ways most people never see. Raising awareness is one of the most powerful ways we can support research, understanding, and hope for the future.
What Is Bardet-Biedl Syndrome?
BBS is a rare genetic disease that affects approximately 1 in 250,000 people around the world. It causes all kinds of things to go haywire in the body, including kidney failure, heart problems, obesity, polydactyly (extra digits), and retinal degeneration (vision loss leading to blindness).
My brave, beautiful, stubborn, strong daughter is one of those 1 in 250,000.
She doesn’t deal with heart or kidney problems at this time, and we are grateful for a clinical trial drug that has helped immensely with the obesity factor. Up to 48% of those affected with BBS develop diabetes, and many more experience a range of other problems that drastically affect their quality of life due to weight.
But this girl of mine does deal with failing vision. Failing more rapidly every day. It is a heartbreaking process to watch, and there is not much in the whole wide world a mama bear won’t do for her child who is suffering.
Although there is currently no cure for BBS, that doesn’t mean nothing can be done. Because I believe deeply in the power of awareness.
Why Awareness Matters for Rare Diseases
Parenting a child with a rare condition like Bardet-Biedl Syndrome means learning not only how to support your child day to day, but also how to advocate for progress. Awareness leads to understanding. Understanding leads to action. And action is what drives research, funding, and ultimately, hope.
That’s why BBS Global Awareness Day matters so much to our family.
How to Get Involved in BBS Global Awareness Day
There is so much to learn about BBS, and extensive research and data available on the Bardet-Biedl Syndrome Association website.
One of the most direct ways to help is to donate to BBS research. The clinical registry alone takes enormous effort to run and has helped the BBS community more than I can say. The education, outreach, and research to preserve and restore vision is critically important and expensive work.
BBS family organizations in France, Italy, the Netherlands, the UK, and North America are all working to raise awareness. Even sharing this post or telling one person about BBS adds another voice to that effort.
Awareness, understanding, action, and love. That is how we help families like ours.
Our Personal Connection to Bardet-Biedl Syndrome
I want to shout it from the rooftops: thank you, thank you, dear readers, for all the support and love through the years for this girl.
Ever since she was tiny, when the blog started and we were trying to figure out all her delays, before we even had an inkling as to what BBS was:
Time and time again, you have lifted us through the darkest times with love that somehow makes it through the internet. We have been overcome, over and over again, by the kindness you have poured out for this girl.
Thank you. It means the world to our whole family.
More Posts About Lucy and BBS
- Lucy’s BBS diagnosis: the day everything changed
- Doctors, experts, and becoming your child’s biggest advocate
- The Turkey Trot through the years: how our family raises money for BBS research
I’ve written about Lucy’s journey with Bardet-Biedl Syndrome across many years and many chapters. If you want to read more, this is a good place to start.
I hope you are having fun in France. No privilege here, no sir!
Sending lots of love for Brave, Strong Lucy from the Deep South!
Shawni, thank you so much for sharing. I really hope there will be a breakthrough on a cure or at least more treatment options soon. I will be praying for that to happen and praying for Lucy.
Such beautiful dedication to helping those who are in a difficult position. Thank you for sharing! Lots of love and prayers for more cures and answers heading Lucy’s way!
This girl is a champion! So grateful that you and Dave and so many other great parents have helped to create this important support team! It is doing so much good for those 250,000 kids who are working through this life with so many extra challenges. Go BBS Foundations!