NEED TO KNOW

  • Benjamin Freitag was always hungry as a child, even after meals, and weighed nearly 100 lbs. by the time he was 3
  • He was eventually diagnosed with a leptin deficiency, which caused his brain to tell his body it was constantly hungry
  • After participating in a clinical trial, he now takes daily injections and can live a more normal life

Benjamin Freitag was always hungry.

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.

At home, Benjamin — whose parents call him Ben — would sit by the pantry where his family stored snacks and sob.

“It was heartbreaking,” says his mother, Karen Freitag, 41, who lives in North Attleborough, Mass., with her husband Jonathan. “It was so hard watching him because you could just tell he was hungry, and he would just cry.”

One Christmas, he ate a full meal but wanted more after the holiday dinner was over. “He just sat there crying and wanting to eat nonstop,” Karen says.

Ben Freitag at age 2 in 2020.

Karen Freitag

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.

“His dad and I were like, ‘Is he ever going to be able to walk the rate he’s gaining weight?’” his mom recalls. He was 2 years old before he started walking, “which was hard — he was really heavy to carry around.”

Even when his parents tried to regulate his food intake or hide it from him, he gained about one pound per week.

By the time he was 3, he weighed almost 100 lbs.

Karen and Jonathan could not understand it, considering he had weighed 8 lbs. at birth, which was big, but not extreme. “He had always been a chubby baby. He was the kid with the cute arm rolls and the big cheeks,” Karen says.

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.

Ben Freitag in 2021.

Karen Freitag

Ben’s ENT referred the family to an endocrinologist for blood work.

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.”

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.

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.”

LEPR deficiency is a rare genetic condition that prevents the body from properly responding to leptin, the hormone regulating hunger, leading to constant hunger and severe obesity.

“It essentially means that his brain thinks that his body is hungry,” Karen explains. “So not only is it telling him he needs food and wants to eat, but it’s telling his body to retain the fat because his body thought it was starving. Regardless of whether we let him eat nonstop or didn’t let him eat, his body was going to retain the fat.”

Ben Freitag at age 5 in 2024.

Karen Freitag

“His brain really thought he was starving,” reiterates Mary Pat Gallagher, MD, director of the Division of Pediatric Endocrinology and Diabetes at Hassenfeld Children’s Hospital at NYU Langone, who did not treat Ben but has worked with similar patients. “The leptin receptor is critical to being able to pass along the message that you have eaten, and you’re not starving.”

An estimated 500 to 2,000 people in the U.S. have leptin-receptor abnormalities, Gallagher says. “It’s extraordinarily rare.”

Ben’s parents asked if there was a treatment, but the doctor “essentially had no answers,” his mother recalls. “It was so rare, at that point, that nobody in her department had treated anyone with the deficiency.”

The endocrinologist later connected the family with a doctor at Columbia University in New York who specialized in genetic obesity disorders. While Ben was too young for a medication that had previously been approved for patients 6 and older, researchers were conducting a clinical trial to expand the approval of a drug called IMCIVREE (setmalanotide) for children between 2 and 6 years old. “Of course, by the time we made this connection, the trial was closing and they had already had all of the kids that were going to be in it, and I’m like, ‘Oh my goodness, we’re so close,'” Karen recalls.

Ben Freitag soon after his 6th birthday in November 2024.

Karen Freitag

The doctor in New York said that if the family was willing to travel four and a half hours from their home, Ben could participate in the trial. “It was a hike to go to the doctor,” his mother says. “There’s literally no other choice. If was like, ‘If there’s medicine that can help, we’re going to do it.'”

IMCIVREE works to re-establish the function of the pathway that delivers messages to the brain that the body is satisfied.

“Once he got on the medicine, probably within a week, it was like he was a normal kid,” his mother says. “All of a sudden, all of the food noise was gone, and he would play and not ask for snacks. And if we didn’t eat lunch on time, he wasn’t looking for food. It was a total 360 from where he was at before.”

Ben Freitag in 2025.

Karen Freitag

Now 6 years old, Ben will be in the first grade. Every morning, he has a daily injection of IMCIVREE.

He plays basketball and takes karate classes. At summer camp, he’s been “swimming nonstop,” Karen says, He still weighs around 100 lbs. but he has grown about five inches — “he’s really sprouted up.”

Karen and Jonathan are relieved that Ben can now lead a normal life. He can run up and down a basketball court. He can play with other kids. He can attend birthday parties.

Food no longer controls his day-to-day existence.

“We didn’t know if we’d get to this place,” Karen says. “It brings me to tears.”