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).
Genetic mutations cause BBS, a rare disease that someone can inherit. Because it’s so uncommon, diagnosis, treatment and support may be delayed.
Marshfield Clinic Health System offers the only comprehensive treatment services for BBS in North America, said Dr. Robert Haws, a pediatric nephrologist and founder of the Health System’s Center of Excellence for BBS.
“Not all doctors understand our daughters’ specific medical needs and differences,” said Mary Morris of Phoenix, Arizona.
Her daughters, Ashley and Carly, both have BBS and receive care at the Health System. 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 25 different genes that are involved in the structure and function of cell structures called cilia. Cilia are also 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 Bardet-Biedl syndrome. 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.
“People inherit BBS in a 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 Health System
The Health System 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 we can provide care 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.”
Within a few weeks of returning home, the Center of Excellence for BBS will send families a binder containing the consultations they had at the Health System, scientific articles about BBS and a summary letter of recommended treatments to bring to their providers at home. Their home doctors can then consult Health System specialists if they have questions about tests or treatments.
The Morris family chooses to travel to the Health System each year for BBS care.
“After spending many 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 Bardet-Biedl syndrome
The Health System maintains the largest international registry in the world for BBS. The registry tracks the health of 565 people to learn more about long-term effects of the disorder and improve treatment. This process is often called precision medicine.
Haws and other researchers have used information from the registry to publish many scientific papers, including one 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.
For more information or to make a referral to the Center of Excellence for BBS, call 715-389-3235.