Bardet-Biedl Syndrome Patient and His Parents Describe Their Diagnostic Journey

Everett Alms, a 16-year-old with Bardet-Biedl syndrome, along with his parents, Bonnie and Will, describe their diagnostic journey.
Bardet-Biedl syndrome is a rare genetic disease that can impede many organs. Numerous genes have been linked to this rare disease and all of them are known to play a critical role on the development of cilia. Signs and symptoms vary greatly but two common problems are vision loss and insatiable hunger. Bardet-Biedl syndrome is also associated with cognitive impairment, polydactyly, renal dysfunction, hypogonadism, skeletal abnormalities, behaviour problems, and developmental delays.
As Bonnie and Will explain, Bardet-Biedl syndrome has a large variation in symptom presentation. Their personal journey started when Bonnie was around 20 weeks pregnant with Everett and they found he had renal dysfunction and polydactyly. The first few years of Everett’s life were marked by varying medical problems including severe seizures and pulmonary arrest. He also cried a lot as a baby, which they later realized was due to his insatiable hunger. Though the Alms’ geneticist was familiar with Bardet-Biedl syndrome, she initially disregarded it because Everett did not have some facial features that were considered characteristic at the time (later realized to be characteristic of Laurence-Moon Syndrome rather than Bardet-Biedl syndrome) and because Everett, like his parents, was tall for his age and did not show signs of hypogonadism. It was not until Everett was seen by an ophthalmologist around age 5 that they found he had retinitis pigmentosa. This was the key to Everett’s diagnosis.
To learn more about Bardet-Biedl syndrome and other rare genetic disorders, visit checkrare.com/diseases/congenital-and-genetic-conditions/