RARE Daily

Sensitivity Training

February 23, 2022

Molly D’Angelo was at the dentist’s office getting a filling as a television set in the exam room played a segment on The Food Network that featured several very overweight people eating hamburgers.

“I don’t understand how people can get themselves like that,” the dental technician said.

The unsolicited comment troubled D’Angelo and she tried to use the occasion as a teachable moment. She pulled a photograph of her 6-year-old son Josh who weighs 162 pounds and stands 4 feet, 8 inches. “There are individuals with genetic diseases that cause that,” she said. “We shouldn’t judge others whom we don’t know.”

“I’m sorry you have to go through that,” the oblivious technician said—a reminder that teachable moments don’t always end in lessons learned. Nevertheless, D’Angelo is undaunted as an advocate for her son Josh and others with genetic obesity.

Josh has Bardet-Biedl syndrome (BBS), a rare genetic disease of obesity. The condition can vary in how it impacts patients and has more than 20 genes associated with it. Josh had normal weight at birth but grew quickly. She suspected a problem during his first year, but doctors were slow to share her concerns. D’Angelo lives in Michigan but ended up taking Josh to multiple specialists in different states. After more than five years of food logs, specialist visits, surgeries, tests, and blood work, Joshua was finally diagnosed with Bardet-Biedel syndrome in 2021 at a BBS center of excellence in Wisconsin.

There is a long list of characteristics of the disease that individual patients may or may not have. This includes visual problems, extra fingers or toes, kidney malformations and malfunction, learning disabilities, developmental delays, and more.

In Josh’s case, his kidneys are working, but he has a malformation. His eyesight is okay, but he is speech delayed and intellectually delayed. He also has an autism spectrum disorder. He attends a private center for physical therapy three hours a day and is home schooled.

D’Angelo said day-to-day care normally is taxing. Josh uses an oxygen machine when he sleeps because of apnea. He needs specialized clothing, diaper changes, and can have difficulty walking. He doesn’t have the intense appetite that is associated with many forms of genetic obesity and has become more active and lost weight. He had been more than 190 pounds.

But while the physical demands of caring for Josh is taxing, it’s the emotional toll that stings her husband. “We live in a judgmental world,” said D’Angelo.

Whenever they are in public with Josh, people stare, whisper, and point. Most times it is in silence, but sometimes people make crass comments.

“When my husband goes out with him and he get the stares, it hurts his heart,” she said. “I’m used to it at this point. but it’s very hurtful.”

When the family took a trip to Disneyland and Josh was in a wheelchair, the stares became too much for D’Angelo’s husband to take. He had to go back to their hotel for a while to process the emotions before going back out into the park. For D’Angelo, though, such experience has given her purpose. She engages strangers and tries to help broaden their understanding.

“Not only is my telling our story potentially going to help him in the future, but it will help others. I hope that spreading the word will do that for others who are reading his story or come across this story,” said D’Angelo. “But I also hope that individuals who are living with this disorder will come forward and seek testing and not have something to be ashamed about because this is a condition that is not just diagnosable now, but potentially treatable.”

Photo: Molly D’Angelo and her son Josh

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