NEED TO KNOW<\/p>\n
Benjamin Freitag was always hungry.\n<\/p>\n
When he was a toddler, his family avoided playgrounds in case the ice cream truck came by. If they were going to a family party, food would be kept hidden until mealtime.\n<\/p>\n
At home, Benjamin \u2014 whose parents call him Ben \u2014 would sit by the pantry where his family stored snacks and sob.\n<\/p>\n
\u201cIt was heartbreaking,\u201d says his mother, Karen Freitag, 41, who lives in North Attleborough, Mass., with her husband Jonathan. \u201cIt was so hard watching him because you could just tell he was hungry, and he would just cry.”\n<\/p>\n
One Christmas, he ate a full meal but wanted more after the holiday dinner was over. \u201cHe just sat there crying and wanting to eat nonstop,” Karen says.<\/p>\n
Ben Freitag at age 2 in 2020.<\/p>\n
Karen Freitag<\/p>\n
By 2 years old, he weighed 65 lbs. He outgrew child-sized diapers, so his parents bought adult diapers. His weight prevented him from crawling.\n<\/p>\n
\u201cHis dad and I were like, \u2018Is he ever going to be able to walk the rate he\u2019s gaining weight?\u2019\u201d his mom recalls. He was 2 years old before he started walking, “which was hard \u2014 he was really heavy to carry around.”\n<\/p>\n
Even when his parents tried to regulate his food intake or hide it from him, he gained about one pound per week.\n<\/p>\n
By the time he was 3, he weighed almost 100 lbs.<\/p>\n
Karen and Jonathan could not understand it, considering he had weighed 8 lbs. at birth, which was big, but not extreme. \u201cHe had always been a chubby baby. He was the kid with the cute arm rolls and the big cheeks,\u201d Karen says.\n<\/p>\n
Looking back, Karen remembers something that “made it more obvious” that her son wasn’t normal. When he was 9 months old, he had surgery to fix a narrow airway. But after being in a medically induced coma and not eating normally for nearly two weeks, he still gained three or four pounds.<\/p>\n
Ben Freitag in 2021.<\/p>\n
Karen Freitag<\/p>\n
Ben’s ENT referred the family to an endocrinologist for blood work.\n<\/p>\n
The initial testing didn’t show anything, so the family was referred to a neurologist. The doctors ran genetic panels, and the family took their son to a second endocrinologist at Boston Children’s Hospital. And then a third endocrinologist at Massachusetts General Hospital, “because nobody was finding anything,” Karen says. “But we just knew something was going on.”\n<\/p>\n
More testing followed in summer 2020, including blood tests, urine tests, and mouth swabs. The family was asked if they were open to trying a genetic test related to obesity. “I’m like, ‘We’re here, let’s just do all the things,'” his mother recalls.<\/p>\n
In late September 2020, a Mass General endocrinologist called with the test results: Ben had a leptin deficiency. “Which was a relief,” his mother says. “Because it was like, ‘Okay, so this was a real thing that we weren’t just imagining.”\n<\/p>\n