After years of trying to understand their son Everett’s health problems, Bill and Bonnie Alms, of Hudson, left Marshfield Clinic on Friday with hope Everett can lead a longer, more comfortable life.
Everett, 7, was diagnosed in August 2011 with Bardet-Biedl syndrome, a rare genetic disease that affects fewer than 2,500 people in the U.S.
He was one of six patients who spent three days at Marshfield Clinic last week undergoing tests and meeting with specialty physicians in hopes of finding better treatments for BBS.
Dr. Bob Haws, a Marshfield Clinic pediatric nephrologist who has studied BBS for about 20 years, spent the past year developing the first and only BBS clinic in the U.S.
The only other BBS clinic in the world is in England.
The Alms said they were prepared to travel
overseas, but canceled their plans when they learned a BBS clinic was being offered at Marshfield Clinic.
Everett experienced health issues including kidney cysts, seizures, pneumonia, vision problems, extra digits on his hands and feet and an insatiable appetite since birth. The Alms were convinced their son’s symptoms were connected, but their theory wasn’t confirmed until Everett was diagnosed with BBS.
“It was very devastating to see what implications BBS held,” Bonnie Alms said. BBS can affect multiple body systems and result in obesity, kidney failure, blindness, heart problems, cognitive delays, infertility and a shortened lifespan.
Bill Alms said he was relieved his son had a diagnosis, but the relief was short-lived because many health care providers had never heard of BBS.
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