MARSHFIELD – Mary Morris and her daughters travel every summer from their home in Phoenix to the Marshfield Clinic.
Morris’s daughters Ashley, 24 and Carly, 16 , have come to Marshfield in each of the last five years to treat their Bardet-Biedl syndrome, a rare inherited disease caused by genetic mutations. Morris’s daughters are two of an estimated 3,000 people in the U.S. living with the disease, also called BBS.
People with BBS experience the disorder in different ways. Both of Morris’s daughters were diagnosed with the syndrome in infancy. Ashley has had a kidney transplant and multiple eye surgeries; Carly has more cognitive struggles.
“They have the same syndrome, but they are not the same person,” Morris said.
People with BBS experience impaired vision, excessive appetite and obesity, chronic kidney disease, extra fingers and toes, heart problems and endocrine disorders that affect growth and development.
They and their families also can feel isolated, and frustrated as they seek medical care from providers who are not versed in the rare disorder or not aware of its multiple effects.
That’s why the trips to Marshfield matter to them.
Marshfield Clinic has the only program in the country designed for those with BBS. For Morris’s daughters, they get treatment for their thyroid dysfunction, scoliosis, sleep apnea and constipation.
Many people with BBS are misdiagnosed because the syndrome is so rare. Some people with BBS are sometimes initially diagnosed with autism or simply being blind.
But BBS is more complex than someone simply having low vision. The syndrome can result from mutations in 21 different genes.
“Imagine every cell in your body had an antenna on it and the antennas were sending messages to each other,” said Dr. Robert Haws, the founder of the Marshfield Clinic’s BBS program. “But imagine if all of those cell towers went down and couldn’t talk to each other anymore. That’s what happens in the body of someone with BBS. … Their cells can’t talk to each other and so everything goes awry.”
Even though Morris knew of her daughter’s diagnosis, finding effective health care has been a challenge. Morris said before coming to Marshfield, her daughters would receive contradictory advice from several doctors, who refused to communicate with each other.
“Here the doctors talk to each other before we even come to the clinic,” Morris said.