Diagnosis
Bardet-Biedl syndrome is a very rare condition. Symptoms begin over time and may include many that can happen in other genetic conditions. Because of this, BBS may not be diagnosed right away.
To diagnose BBS, your child's healthcare professional does a physical exam, checks weight and blood pressure, and talks with you about symptoms and your family history. Because many symptoms of BBS can be found in other medical conditions, genetic testing is helpful in confirming the diagnosis.
Genetic testing looks for gene changes known to cause BBS. Sometimes the genetic test doesn't show a difference in genes, so the diagnosis is based on symptoms.
For genetic testing, a sample of DNA is examined in the lab. One of these methods is used to get the sample:
- Cheek swab. A cotton swab is rubbed inside the cheek to get a cell sample.
- Saliva collection. Saliva is spit into a collection tube.
- Blood test. A sample of blood is taken from a vein in the arm.
A genetic counselor talks with you about the results of genetic testing. A counselor also can offer information on the risk of BBS for future children. Testing other family members may be suggested.
Diagnosis may involve other lab tests to check hormone levels, liver and kidney function, blood sugar, and cholesterol. Your child may have exams of the eyes and teeth. Your child also may have imaging tests to check the heart, lungs, digestive system, brain, kidneys and sex organs.
Sometimes a healthcare professional suspects BBS before birth based on ultrasound images of the baby that show kidney changes and extra fingers or toes. Talking with a specialist in medical genetics can help to confirm the diagnosis.
Treatment
Treatment for conditions related to BBS can ease symptoms, lessen complications and help make quality of life better. But there is no treatment for the changed genes that cause Bardet-Biedl syndrome.
Because BBS can affect almost any part of the body, different specialists may be needed. A Bardet-Biedl syndrome multispecialty center provides this expertise and experience in one place.
Depending on your child's needs, your care team may include specialists in:
- Eye conditions, called ophthalmology.
- Hormone conditions, called endocrinology.
- Medical genetics.
- Nutrition and weight management.
- Kidney conditions, called nephrology.
- Digestive system conditions, called gastroenterology.
- Urinary system and reproductive system conditions. These may include specialists in urology and gynecology.
- Dental conditions.
Your care team also may include specialists in:
- Children who have complex conditions related to development and behavior, called developmental pediatrics.
- Mental health and behavior.
Weight management
Constant hunger and an urge to eat that's hard to control can be linked with BBS. This can be challenging when trying to manage eating every day. Your care team can help you create a plan for managing weight that works for your child and your family. Your plan may include nutrition guidance, strategies for encouraging healthy eating and physical activity, recommendations for managing challenging behaviors, and medicine.
A dietitian with expertise in BBS can help create a food plan that considers your child's calorie needs and other health conditions such as kidney conditions, diabetes and high blood pressure. The dietitian also can offer suggestions for meal planning, meal portions and meal schedules. The dietitian can suggest home tips to help control access to extra food.
Setmelanotide (Imcivree) is approved by the U.S. Food and Drug Administration for weight management in people with BBS who are overweight and age 2 and older. The medicine causes weight loss and may help lessen constant hunger and the urge to eat.
Setmelanotide is given as a shot once a day. The most common side effects can include darker skin color, irritation at the spot where the shot was given, upset stomach and headache, among others.
Other medicines
Other medicines may be needed, depending on other health conditions. For example, medicines can treat diabetes and low thyroid. Hormone therapy can help with growth and sexual development.
Therapies
Starting therapy early can help with muscle strength, coordination and speech delays. Therapies can include physical therapy, occupational therapy, and speech and language therapy. Behavioral therapy and mental health treatments might be recommended based on needs and goals.
Vision aids
There is currently no treatment for vision loss. Glasses can help with some early vision changes. Low vision aids, such as magnifiers, large print formats and high-resolution images, can help with low vision. Communication devices or assistive technology, such as audio description devices, text-to-speech programs and smart speakers, can help people with blindness. Learning braille, using a white cane for mobility and getting help from a service animal are options too.
Surgery
Surgery may be done for:
- Extra fingers or toes. Surgery can remove extra fingers or toes or separate fingers or toes.
- Changes in development that happen before birth. Surgery can help with changes that affect heart development. Surgery also may be done for differences with sex organs and urinary tract changes that happened before birth.
- Kidney failure. Kidney transplant may be an option for some people when the kidneys no longer work.
- Cataracts. If an eye lens becomes cloudy, a condition called a cataract, the lens can be replaced with a lens implant.
Ongoing care
Regular, ongoing medical visits are an important part of lifelong care. At each visit, the healthcare professional does a physical exam and checks blood pressure and weight. The medical team does blood tests or other tests to check the liver, kidneys, blood sugar and hormone levels. Regular eye exams and dental care are important too.
Lifestyle and home remedies
If you have Bardet-Biedl syndrome, these tips can help. If your child has BBS, you can help your child to:
- Learn about Bardet-Biedl syndrome. Get accurate information, support and encouragement.
- Create healthy eating habits. Healthy eating habits are important for the body to work well and to prevent extra weight gain and related health conditions. Use meal planning to have nutritious meals and snacks at expected times. Try plating food before sitting down to eat. Put extra food away to make taking seconds less automatic. Plan for outings and special events. To lessen eating outside of meal or snack time, try keeping food out of sight and place locks or alarms on food cabinets and the refrigerator.
- Prevent safety issues. For low vision or blindness, make sure that the home, daily activities and outings are set up to stay safe. Without a sense of smell, odors such as smoke, a natural gas leak or spoiled food can't be identified. Place special detectors to alert for smoke and natural gas, and use a special food labeling and dating system.
- Get regular physical activity and exercise. These can help build muscle strength and motor skills and support a healthy weight.
- Learn what support is available. For example, ask about early intervention programs for babies and young children. Ask about special education services at school. Look for behavioral and mental health services, if needed. Find support services for low vision or blindness.
- Keep regular follow-up appointments with healthcare professionals. This can help prevent future issues.
Coping and support
Living with Bardet-Biedl syndrome can be a challenge for people with BBS and their families. Sharing your feelings with trusted family and friends or with healthcare professionals can help. If your care team includes social workers, they can help you connect with support and resources. Also, think about joining a support group for people with BBS and their families, such as those available through the Bardet Biedl Syndrome Foundation.
Your child's care might include meeting with a pediatric psychologist, psychiatrist or other mental health professional. These specialists are trained in supporting families coping with illness and treatment demands. They also can offer strategies for creating healthy habits around eating, physical activity and following treatment plans.
If you or your child is depressed, frequently anxious or overwhelmed, or struggles with challenging behaviors, meeting with a mental health professional could help. The mental health professional can offer insight and recommend treatments known to help you better understand issues.
Developmental and educational assessments can check for delays in development and in speaking, learning, thinking and memory. Options such as special education services, physical therapy, occupational therapy, and speech and language therapy can help if needed.
Preparing for your appointment
If your primary healthcare professional thinks that you or your child has Bardet-Biedl syndrome, you'll likely be referred to a doctor who specializes in conditions that affect hormones, called an endocrinologist.
You might want to take a friend or family member with you to the appointment to help you remember information.
Before your appointment, make a list of:
- Symptoms and when they started. Include anything that makes the symptoms worse or better.
- All medicines, vitamins, herbs and other supplements. Include the doses.
- Family history, such as whether anyone in your family has Bardet-Biedl syndrome.
- Treatment for conditions related to BBS, if any. Include what the treatment was and if it helped.
- Any other medical conditions and their treatments.
- Areas of life affected by the condition. These may include, for example, vision, weight or education. Think about what information, tools or services would be helpful.
- Questions to ask your healthcare professional.
Questions to ask may include:
- What likely is causing the symptoms?
- What kinds of tests are needed?
- Are other medical specialists needed?
- What treatments do you recommend?
- Are there things to do at home to help?
- There are other health conditions. Are they part of Bardet-Biedl syndrome?
- Are any limits needed?
- What services are available to help with care?
- Are there print materials or websites that you'd suggest to help me learn more about BBS?
Feel free to ask other questions during your appointment.
What to expect from your doctor
Your healthcare professional may ask you questions, such as:
- What are the symptoms? When did you first notice them?
- Has anyone else in your family been diagnosed with Bardet-Biedl syndrome?