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

The POMC gene GENE Our body’s instruction manual that informs how our bodies grow, develop, and function. It is through our genes that traits are passed down from parent to offspring. makes a protein that plays an important role in your body weight, but just one change in the gene can cause insatiable hunger. See more

Leptin receptor (LEPR) deficiency

Leptin sends a message from the body to the brain that the body is full. But why isn’t the message always delivered? See more

Bardet-Biedl syndrome (BBS)

From loss of sight to weight gain, BBS can affect many parts of your body. Learn what else makes this syndrome different from others. See more

Alström syndrome

Even though Alström syndrome can cause obesity, symptoms can vary from person to person.
See more

Could I be affected?

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


Finding trusted information on rare genetic diseases of obesity is an important step to understanding how they can affect your health. We are proud to provide trusted, timely, and easy-to-understand information on rare genetic diseases of obesity. Rhythm Pharmaceuticals is not responsible for the content of affiliated or sponsored websites.


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