It may be hard to imagine living with a disorder that affects nearly every part of your body, but that’s the case for about 3,000 people in the U.S. who have Bardet-Biedl syndrome (BBS).
BBS is a rare inherited disease caused by genetic mutations. Because it’s so uncommon, diagnosis, treatment and support may be delayed.
Marshfield Clinic offers the only comprehensive treatment services for BBS in North America, said Dr. Robert Haws, a pediatric nephrologist and founder of Marshfield Clinic’s BBS program.
“Not all doctors understand our daughters’ specific medical needs and differences,” said Mary Morris of Phoenix, Arizona.
Her daughters, Ashley, 23, and Carly, 16, both have BBS and receive care at Marshfield Clinic. Patients and families like the Morris family come from around the world for specialty care.
A rare disease with many symptoms
BBS can result from mutations in 21 different genes that are involved in the structure and function of cell structures called cilia. Cilia are involved in cell movement, receiving and sending signals between cells, and sensory perception.
BBS affects many parts of the body. Common features include:
- Impaired vision.
- Excessive appetite and obesity.
- Chronic kidney disease.
- Extra fingers and toes.
- Heart problems.
- Endocrine disorders that affect growth and development, metabolism, sexual function and reproduction.
Signs and symptoms vary among people who have the disorder. Ashley Morris has had significant medical complications from BBS. She needed a kidney transplant at age 8, multiple eye surgeries and has problems with her liver. Carly Morris has fewer physical complications but more cognitive struggles than her sister.
Features of BBS, such as obesity, can lead to further medical problems like diabetes and sleep apnea in some patients.
“BBS is inherited in recessive manner,” Haws said. “That means both parents have copies of the gene mutation but don’t show any symptoms. Their children have a 25 percent chance of having the disorder.”
Specialty care available at Marshfield Clinic
Marshfield Clinic offers multi-specialty care for children and adults with BBS. Patients come for 3-4 days of appointments with providers who know about the disorder.
“We emphasize a team approach,” Haws said. “All the specialists work together for the betterment of one person. This is a prototype for how care can be provided to people with complex conditions.”
We were absolutely blown away when we visited for the first time,” Mary Morris said. “As we walked from one appointment to the other, doctors were sharing information about the girls.”
Patients leave with a packet that includes the consultations they received at Marshfield Clinic, scientific articles about BBS and a summary letter of recommended treatments to bring to their providers at home. Their home doctors can consult Marshfield Clinic specialists if they have questions about tests or treatments.
The Morris family chooses to travel to Marshfield Clinic each year for BBS care.
“After spending the last 23 years searching for the gold standard of care our daughters deserve, we are finally satisfied we have found it,” Mary Morris said.
Researchers continue to study BBS
Marshfield Clinic maintains the largest international registry in the world for BBS. The registry tracks the health of more than 300 people to learn more about long-term effects of the disorder and improve treatment.
Haws and other researchers have used information from the registry to publish a scientific paper about kidney transplant outcomes in patients with BBS compared to people who don’t have the disease. The paper will help health care providers know what to expect if they care for a transplant patient who has BBS, Haws said.