Learn about rare genetic diseases of obesity
You have tried everything but continue to gain weight and literally can’t get enough to eat. Diet and exercise just don’t work—something about the weight gain and hunger is different. You are not alone in your suspicion that there may be more to this weight issue. It may be an underlying rare genetic disease of obesity and it could change how you or your loved one’s doctors provide care.
“His hunger started at one week; he cried of hunger all the time—he hurt. Dealing with the diagnosis was a difficult thing. It felt like I was dropped on an island and didn’t know what to do. But I’m happy I’ve connected with other families; I can help people and can be helped in return.”
KAREN | Mom to Nate, living with POMC deficiency, a rare genetic disease of obesity
Watch this video to learn more about living with a diagnosis of a rare genetic disease of obesity.
Coping Through the Diagnostic Journey: Karen and Nate’s Story
As soon as you meet him, your face will light up. That’s who he is. Somebody once said that he was joy personified.
Nate has POMC deficiency, which is a rare genetic disorder of obesity.
KAREN Mom to Nate, living with POMC deficiency, a rare genetic disorder of obesity
His hunger started at 1 week. He cried of hunger.
Karen: “You had dinner.”
It hurt him, and as a parent I couldn’t do anything. I couldn’t fix it.
I remember he was 5, and in 1 day, every 5 minutes, he asked for food, or referenced food, or went to the kitchen to find food. Every 5 minutes of the day.
Finding the diagnosis was a matter of me going to the doctor and saying, “There’s something wrong with my child. Look at his weight, look at his sleeping habits, look at this and this and this—I think there’s something wrong.”
The doctor walked into the room; he said, “It’s genetics, not anything you’ve done; it’s not what you fed him.”
Dealing with that information afterwards, that was difficult, because that was when I was dropped on my island. That was when I was swimming in the dark, not knowing what to do.
Social media is my lifeline. I can help people, and I can get helped in return. I talk about the bad days and the good days.
If you suspect that you or someone you know might have a rare genetic disorder of obesity, follow your instincts and talk to a doctor
I would say, go with your gut feelings. Keep going until you get the answers. You are the parent. You’re the mom, you’re the dad, whatever. You know—you know there’s something. You can feel it. You can see it. You’re with your child. Push. I’m there for them, and I hope they find answers.
Rhythm is working every day to advance the understanding of rare genetic disorders of obesity and to improve the lives of those affected
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© 2018 Rhythm Pharmaceuticals. All rights reserved. MC4R-C0089 December 2018.
Scientists are aware of around 80 different genetic conditions that can cause obesity—and we’re still learning more. Want to learn about them? Explore information on select rare genetic diseases of obesity below:
Proopiomelanocortin (POMC) deficiency
Leptin receptor (LEPR) deficiency

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I think I may have a rare genetic disease of obesityWhere can I connect with people like me?