Understand the Conditions
Bardet-Biedl syndrome
Bardet-Biedl (pronounced BAR-day BEED-el) syndrome, also known as BBS, is a rare genetic disease.
For someone living with Bardet-Biedl syndrome, the brain cannot turn off hunger messages, making them feel hungry all the time.
Symptoms of BBS
The signs, symptoms, and severity of BBS can vary from person to person. This can make it hard to diagnose.
Signs and symptoms of BBS:
Two key symptoms of BBS related to weight include:
Constant, hard-to-control hunger (known as hyperphagia)
Severe, early-onset obesity
Think you or someone you care for could have hyperphagia?
Hunger and obesity
due to BBS
Constant, hard-to-control hunger can cause obesity in people living with BBS. In fact, some symptoms of BBS can be worsened by obesity. Consider discussing symptoms and behaviors with a doctor. They may help lead to a specific diagnosis, which is a positive first step to managing it.
Hear from others about what it’s like to live with hyperphagia.
If not appropriately managed, health problems related to obesity can include:
Diabetes
High blood
pressure
Kidney issues
Heart-related issues (heart attack and stroke)
Orthopedic issues (problems with bones and muscles)
Overall mental
health
Talk to your doctor—It’s important to manage obesity due to BBS early.
Getting a
diagnosis
Diagnosing BBS in children
BBS can be diagnosed by a doctor based on signs and symptoms. Some symptoms are harder to spot in young children. This makes it important to discuss symptoms and whether genetic testing for BBS may be right for your child with their doctor. Genetic testing may aid in a diagnosis.
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Diagnosing BBS in adults
Some adults may not have received a formal BBS diagnosis. If you have signs or symptoms of BBS, it’s important to discuss these with your doctor. Talk to your doctor about whether genetic testing for BBS may be right for you.
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Genetic testing may help aid in a diagnosis
Ask your doctor about genetic testing options for BBS.
Learn more about an option for genetic testing
Watch Olivia share how genetic testing played a role in her journey as a parent to Adalissa and Solomon, who live with BBS.
Preparing to speak with
your doctor about BBS?
Get help preparing for your discussion and learn how to advocate for yourself or your loved one.As always, talk to your doctor about how a diagnosis can help you find the appropriate treatment plan.
Advocacy organizations
There are several independent organizations that work to provide education and resources for people living with BBS. Below are organizations that may offer support:
Educational resources and support for BBS
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Connect with a dedicated point of contact who can help support you through your journey of living with BBS.
InTune is your source for one-on-one personalized support,* available throughout your journey. This program provides resources, education, and information tailored to fit your unique needs.
* Patient Education Managers are employees of Rhythm Pharmaceuticals and do not provide medical care or advice. We encourage you to always speak to your healthcare providers regarding your medical care.