Patient Stories:
POMC Deficiency and LEPR Deficiency Obesity

Alex’s Story

Hi, I’m Alex. I live in England.

Try to imagine 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 as me—something called LEPR deficiency.

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Alex has been diagnosed wtih LEPR deficiency obesity.

As I got older, children 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 program from the BBC about a girl named Alina who has a genetic obesity disorder and showed it to my mom (you can also see Alina 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 contacted the television station and was put into contact with the doctor leading a 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. 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 continued, and I found it hard to fit in with my friends and at social events. Even attempting to shop for clothes was a source of great pain.

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

Take an important survey to see if you might have a rare form of genetic obesity. Then join the conversation with others who “get it” on Facebook.

 

Alina’s Story

Alina is a loving daughter, trustworthy friend, and caring big sister. But growing up with POMC (pro-opiomelanocortin) deficiency obesity—a rare genetic disease that causes severe weight gain and uncontrollable hunger—took an enormous physical and emotional toll on Alina.

“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. DNA analysis revealed the POMC genetic defect and the diagnosis that Alina was suffering from POMC deficiency obesity.

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POMC deficiency obesity results in uncontrollable appetite and severe weight gain at infancy that continues into adulthood. Alina’s diagnosis has had a positive impact on her outlook and has enabled her participation in a clinical trial evaluating an experimental therapeutic that targets the genetic cause of POMC deficiency obesity.

The diagnosis had a positive impact on her outlook because she realized her condition was due to her genes and not her fault. Also, her doctor enrolled her in a clinical trial for an experimental therapeutic targeting the POMC genetic defect.

While she is not cured and continues to take medications for her condition, Alina has experienced positive changes in life. “I can finally participate in normal every day activities such as buying nice clothes or even meet up with friends for a fun evening of dancing,” says Alina. Her experience has given her the freedom to imagine a future filled with promise.

You can take a survey to determine if you might have a rare form of genetic obesity.

Get to Know Nate

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 six months, Nate cried constantly and only slept for four hours a night. Unknown to Karen, the cries were for food.

“I didn’t know he was starving to death,” Karen recalls sadly.

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Nate has been diagnosed with POMC deficiency obesity.

By the time he was six months old, Nate was wearing clothing for a 1½-year-old. At two years old, he had officially missed all his milestones, like following simple instructions and walking unsteadily, and was still constantly crying. For eight months, Karen persistently requested that Nate’s doctor consider that something was not right.

“I knew at six months…I began questioning…but didn’t think it was anything genetic or medical,” says Karen. “At eight 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 (pro-opiomelanocortin) deficiency obesity.

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

Nate is now seven years old and weighs 150 pounds. Since Nate has limited mobility, Karen uses a wheelchair to eliminate the gawking when he walks with a wobble. She is constantly working on turning around the attitude and perception of POMC.

“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. When I see milestones met, I know I rock,” she exclaims.

Recent studies suggest that POMC may be helped by medications aimed at the underlying POMC genetic defect. If you think you, or someone you care for, have the signs and symptoms of POMC, you are invited to participate in a survey to identify children and adults who might benefit from ongoing research into this condition.

You can take a survey to determine if you might have a rare form of genetic obesity.

Living with POMC Deficiency Obesity

Imagine not being able to play kickball with your friends, or feeling like an outsider at your own school, or having people stare and whisper and laugh about your weight. These are experiences for patients living with POMC (pro-opiomelanocortin) deficiency. This extremely rare genetic disease starts at infancy, with severe weight gain and extreme, unrelenting hunger. Due to uncontrollable hunger, food plays an exaggerated role in these patients’ lives.

The first symptoms of POMC deficiency begin early in life, with extreme weight gain and voracious hunger. Additional symptoms can include a lack of adrenocorticotropic hormone (ACTH). This hormone is needed for the production of cortisol in the adrenal gland. Insufficient production of cortisol in the body can lead to impaired liver function, jaundice, or even high blood sugar. Other features of POMC deficiency can include red hair and light skin that easily burns but never tans.

Parents and patients living with POMC deficiency describe an extremely difficult childhood. Isolation is common due to exclusion by other children from school activities. Parents suffer along with their children—not only do parents need to constantly watch what their child eats, but they also need to change their lifestyle.

One parent says, “It was difficult for others to understand. People look at us like it was our fault that she was overweight.”

The objective of this website is to increase understanding that can eventually lead to better diagnosis and treatment.

You can take a survey to determine if you might have a rare form of genetic obesity.

Erna, Ronja, and POMC Deficiency

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.

“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 her birth. 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.

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.

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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.

After many years, Ronja’s family finally found a healthcare team they feel comfortable with. Ronja’s healthcare 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 and Erna’s emails.

Even with the help of the healthcare team, life with POMC deficiency remains difficult for Ronja and Erna.

The most difficult aspect for Erna is feeling helpless and wishing there were more she could do for Ronja. She measures success in managing Ronja’s POMC deficiency by Ronja’s happiness, which is not always easy.

Ronja says, “POMC is a very serious thing to handle. I’m 18 years old, and I’m 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. She is currently being considered for a clinical trial evaluating a treatment for POMC deficiency. While she waits, she says, “I think positive” about living day-to-day with POMC deficiency.

You can take a survey to determine if you might have a rare form of genetic obesity.

These stories are a beginning. Our goal is to capture the experience of individuals living with POMC and LEPR deficiency obesity to support better understanding of these disorders, encourage broader diagnosis, and help develop better treatments. If you suspect that you or someone you care for is living with POMC or LEPR deficiency obesity, we encourage you to participate in our study:

Learn about the Patient Survey >

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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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