Real Stories

Few people understand or are even aware of rare genetic disorders of obesity. That’s why it’s so important for those living with these conditions to share their stories and for us to hear them.

Alex’s Story

Hi, I’m Alex. I live in England.

Try to envision that you haven’t eaten anything for 2 whole days—nothing at school, nothing at home. No cereal, no sandwiches, no pasta—absolutely nothing. Can you imagine how hungry you would be?

If you feel that hungry all the time, you might have the same condition I have—something called LEPR deficiency obesity.

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Alex has been diagnosed wtih LEPR deficiency obesity.

As I got older, the kids at school bullied me. When we played running games, I was always slower than them, and my friends would always comment on how much I would eat during the day. I got really upset because they made me feel like I didn’t fit in.

When I was 4 years old, our neighbor recorded a TV show from the BBC about a girl named Alina who has a genetic disorder of obesity, and she showed it to my mom. (Note: You can also see Alina’s story on this website.) My mom thought Alina’s body shape and size looked just like mine, and she noticed that we both had red hair and pale skin. We even walked and moved the same way. My mom called the TV station and was put into contact with the doctor leading the program Alina was involved in regarding her condition.

We visited the doctor, and I had some genetic tests done. We found out that I had LEPR deficiency obesity. The diagnosis helped my mom know that there was nothing more that she could have done and that it was not her fault, even though our doctors had blamed her.

While it was great to finally have a name for my condition, it was still difficult because there was no solution. For more than 10 years after my diagnosis, I continued to struggle and gain weight. The bullying persisted, and it was hard to fit in with my friends and at social events. Even shopping for clothes was painful.

Life with genetic obesity is very challenging, and you might feel helpless, but it’s important to try your best to be positive. I found meeting others like me to be very helpful.

To learn more about rare genetic disorders of obesity, and to connect with others affected by these conditions, join the Genetic Obesity Project community on Facebook.

 

Alina’s Story

Alina is a loving daughter, trustworthy friend, and caring big sister. But growing up with POMC deficiency obesity took an enormous physical and emotional toll on her.

“I didn’t have a lot of friends and wished I could have been as carefree as other kids,” Alina recounts about her childhood. “Everyone just thought I was obese because I ate too much. They did not know or understand that it was due to my condition.”

When Alina was born, she suffered from impaired liver function and jaundice. Those symptoms improved when her doctors put her on a hydrocortisone treatment, but that was just the beginning of her struggles. Alina rapidly gained weight beginning in the first years of her life and left many of her doctors perplexed. One of her physicians had a theory—based on Alina’s red hair, fair skin, and weight that was twice what is normal for children her age—that her excessive weight might be due to a single genetic cause.

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The diagnosis of POMC deficiency had a positive impact on her outlook because she realized her condition was due to a genetic variant and was not her fault.

To learn more about rare genetic disorders of obesity, and to connect with others affected by these conditions, join the Genetic Obesity Project community on Facebook.

Nate’s Story

Nate’s birth was similar to that of hundreds of other children born that same day—successful and routine. Things rapidly changed after his mother, Karen, brought him home. For the first 6 months, Nate cried constantly and only slept 4 hours a night. Unknown to Karen, the cries were for food.

“I didn’t know he was starving to death,” Karen recalls sadly. By the time he was 6 months old, Nate was wearing clothing for a 1½ year old. At 2 years old, he had officially missed all his milestones, like following simple instructions and walking, and was still constantly crying. For 8 months, Karen persistently requested that Nate’s doctor consider that something was not right.

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Nate has been diagnosed with POMC deficiency obesity.

“I knew at 6 months…I began questioning…but didn’t think it was anything genetic or medical,” says Karen. “At 8 months, I was absolutely certain that something was wrong.”

A geneticist at Des Moines Hospital in Iowa ran a series of tests that revealed that Nate has POMC deficiency obesity.

POMC deficiency obesity is an extremely rare genetic disorder that causes severe weight gain and uncontrollable hunger (hyperphagia). Those affected rapidly gain weight as young children and greatly exceed what is normal for children their age.

At 7 years old, Nate weighed 150 pounds. Since he has limited mobility and walks with a wobble, he uses a wheelchair to spare himself from any gawking. Karen is constantly working to turn around the attitude and perception of POMC deficiency.

“I want people to think, ‘What’s wrong with him medically?’ as opposed to, ‘Why doesn’t that kid go out and play?’ ” says Karen.

Karen has been managing Nate’s condition through a diet of 600 calories a day, occupational therapy, and medication for adrenal insufficiency.

How does Karen know if she’s successfully helping Nate? “If he’s happy, then I’m successful,” she said. “When I see milestones met, I know I rock!”

To learn more about rare genetic disorders of obesity, and to connect with others affected by these conditions, join the Genetic Obesity Project community on Facebook.

Ronja’s Story

The refrigerator had to be securely locked. The kitchen was blocked from anyone entering, and no food was kept on the table after meals. This was the norm for Erna, the mother of a child with POMC deficiency obesity.

“I almost gave up. As she got older, she could go and buy food and hide it in her room,” Erna recalls.

One memorable day, she heard Ronja exclaim, “I turn into an animal, mommy, and I have to find food!”

The family realized that there was something wrong with Ronja soon after she was born. She was in and out of the hospital for the first 8 months of her life with low blood sugar, and she was rapidly gaining weight. It wasn’t until Ronja was 2 years old that she was diagnosed with POMC deficiency obesity.

A wave of guilt and loneliness washed over Erna. How was she going to stop Ronja from continuously eating? The family had already tried hiding food, but ultimately, this approach failed. As a nurse, Erna felt comfortable asking Ronja’s doctors a lot of questions. Unfortunately, the doctors were unable to answer most of them.

“I felt very alone,” Erna says of the time following Ronja’s diagnosis. After many years, Ronja’s family finally found a healthcare team they feel comfortable with. Her team now includes an endocrinologist, a nutritionist, a psychologist, a primary care doctor, and a surgeon. Erna readily admits that she had been stubborn about getting help, but she realized she couldn’t do it alone. Her healthcare team is in constant touch with the family, answering questions after appointments and following up on Ronja’s and Erna’s emails.

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Ronja’s family realized that there was something wrong with Ronja soon after her birth. It wasn’t until Ronja was 2 years old that she was diagnosed with POMC deficiency.

Even with the help of the healthcare team, life with POMC deficiency obesity remains difficult for Ronja and Erna. The most challenging aspect for Erna is feeling helpless and wishing there was more she could do for Ronja. She measures success in managing Ronja’s POMC deficiency obesity by Ronja’s happiness, which is not always easy.

Ronja says, “POMC deficiency is a very serious thing to handle. When I was 18 years old, I was often moping. I am different because I have to watch what I eat, and I eat too much.”

But Ronja is hopeful about the future and thinks positively about living day-to-day with POMC deficiency obesity.

To learn more about rare genetic disorders of obesity, and to connect with others affected by these conditions, join the Genetic Obesity Project community on Facebook.

Hearing and sharing the stories of people living with these rare genetic disorders of obesity is incredibly important. Broader awareness of these conditions will help lead to greater understanding and hopefully help more people find answers to better manage their health.

VIDEOS: Learn more about genetic obesity >

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The Genetic Obesity Project is an initiative of Rhythm Pharmaceuticals, Inc. The content on this site is intended for use by patients, caregivers, and healthcare professionals for informational purposes only and is not intended to be taken as medical advice.
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