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VOICES
of RARE OBESITY

We invite you to explore the first-hand experiences of members of the rare genetic disorders of obesity community.

It’s not your fault. It’s genetic.

I think it's important to know that the obesity is due to a genetic cause, simply because it can sort of assuage some of the guilt that the parents have about the child's weight.

I think that once they have a name for what is causing this, then they can say to themselves, "Okay, see, I didn't really do this. This isn't my fault."

VOICES of Rare Obesity

Rhythm, LEAD for Rare Obesity, and their logos are trademarks of Rhythm Pharmaceuticals, Inc.
© 2020, Rhythm Pharmaceuticals, Inc. All rights reserved. GL-NP-2000033 08/2020.

Hear first-hand accounts of living with symptoms that may be related to a rare genetic disorder of obesity

"My big aha was to listen to your gut and never worry about sounding like the 'crazy mom'. Because you know – you see your child every day."

DONNA, MOM TO TANNER

Denise and Evan share the story of their sons, Drake and Everett, both living with a rare genetic disorder of obesity

Drake (left) and Everett (right)

It wasn’t until really about two and a half, three years old that we noticed that Drake was becoming bigger than the kids his age.

Denise
Mom to Drake and Everett

He literally could run around for days and expel calorie after calorie, but with the amount of energy he was putting out, he wasn’t losing any weight.

I think Drake went through probably 12 diets at the age of three years old. It got to the point where, no matter what we were doing, he kept gaining weight.

We just simply thought we were feeding him too much or we were feeding him the wrong things. And it isn’t until more recently that Everett has started to exhibit some of these symptoms that Drake did.

There are two key symptoms of rare genetic disorders of obesity

Early-onset obesity and insatiable hunger

Hunger in our house is constant. It is always there. Our boys are always hungry.

Drake wakes up hungry, and pretty much the first thing out of his mouth is what’s going to be for breakfast.

When you have a child who can eat an adult-sized meal and tell you that he’s still hungry at the end of it, and he’s eight years old, it’s hard to deal with sometimes.

It’s extremely hard to watch your kid in tears telling you, “No, but I’m really so hungry,” and you have to tell them, “No. No, I’m sorry. You can’t. You can’t eat right now.”

It’s heartbreaking because you don’t know how to fix the problem. And as a mom, you want to heal their hurts. And you can’t always do that when you don’t have an answer to what’s going on.

Searching for answers, Denise and Evan consulted their sons’ doctor

So we had spoken with the pediatrician, and she sent us to an amazing endocrinologist. The first thing he did was the blood work.

After the genetic testing, Drake was diagnosed with a rare genetic disorder of obesity. Later, the family was tested and younger brother, Everett and mom, Denise were diagnosed with the same disorder.

I felt a lot of stress relief in, in the sense that at least I knew now what he was going through.

Raising children with a rare genetic disorder of obesity

I think a lot of people think that because our kids are bigger, that we’re bad parents. I think that if they saw the strain and the stresses that we have to put on our boys, they would see that this is not an easy thing to go through.

I have to be aware of what they’re doing, what they’re eating, and make sure that they’re not going overboard.

Evan
Dad to Drake and Everett

I think their hunger affects how they learn and how they’re being taught because it’s constantly in their minds.

You can be so disappointed because you have this condition that you don’t want to do anything. And I don’t want my kids to live their life that way.

I think they realize in their own way that even though they are a different size, that they are still capable.

When Drake became a black belt in taekwondo, I think it really did a lot for his self-esteem. I remember hugging him as he cried and said, ‘I did it, daddy.’”

For the future for my boys, I hope that they grow up happy, and knowing that they’re loved, and I hope that they are able to accomplish all that they have in their mind for their life.

If you suspect that you or someone you know might have a rare genetic disorder of obesity, talk to a doctor

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Rhythm, LEAD for Rare Obesity, and their logos are trademarks of Rhythm Pharmaceuticals, Inc.
© 2020, Rhythm Pharmaceuticals, Inc. All rights reserved. GL-NP-2000003

Hear first-hand accounts of living with symptoms that may be related to a rare genetic disorder of obesity

"Help others understand your reality. I wish they knew how busy he is. He's done hockey, football, skateboarding. He's an active kid."

JOAN, MOM TO TYSEN

A Journey to BBS Diagnosis

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Donna, Paul, and Tanner share the journey to Tanner’s diagnosis of Bardet-Biedl syndrome (BBS), a rare genetic disorder of obesity.

Donna
Mom to Tanner

It was a totally normal birth. But when he was born, the doctor came over and said, "Well we do have a couple of issues, one of his feet are curved in and he's got extra digits.”

They did some blood work, and everything was fine. So, they sent us home and slowly things started to change.

At three months old, Tanner was admitted to the hospital after experiencing ongoing pain.

Over the next few months, Tanner had multiple surgeries to fix life-threatening intestinal issues caused by Hirschsprung’s disease. Then he started to recover, but other concerns began to arise.

Paul
Dad to Tanner

And then he started gaining weight. So, he had doubled his weight in two months.

He kept gaining and gaining, and it didn't make sense because we were feeding him the recommended amounts. Which is what sent us into our next area of concern, which was, why is this happening? This isn't normal.

We talked to probably three different nutritionists…each one of them would say, he's doing fine.

There was one point where we had to lock the pantry door just to keep temptation out of the way.

As Tanner continued to gain weight and experience feelings of intense hunger, Donna and Paul turned to a specialist for answers.

His doctor decided he needed to see a geneticist. We talked for a long time and he came back with a sheet of paper that he had photocopied from the back of one of his old medical textbooks, and said, well, I don't think he has this. But it's the only thing I can even remember or think of that could even remotely relate to his anomalies. If all the pieces start fitting together over the years, it's probably what he's got.

And it was Bardet-Biedl; that was the paper that he had photocopied for us.

Over the next several years, Tanner’s eyesight began to deteriorate, which led Donna and Paul to increase their suspicions of BBS.

Then we started doing more research into the type of blindness that’s associated with Bardet-Biedl and its retinitis pigmentosa. You only have central vision; all your peripheral vision goes away.

We decided to go ahead and get him officially tested. He did have retinitis pigmentosa, it was pretty severe at that point.

As Donna and Paul uncovered more pieces to the puzzle, they believed Tanner was indeed living with BBS. Tanner received a genetically confirmed diagnosis years later in adulthood.

Despite some hurdles along the way, Tanner now lives independently at college.

We were very nervous when he went off to college. But he's never missed a beat being away from home.

Tanner marches in the college band, he does the marching like everybody else does.

Tanner
Living with BBS

I play multiple instruments. I actually taught myself how to play guitar and bass about seven or eight years ago. And I've been playing the saxophone since middle school.

I’m studying computer science. I want to try to find a job that I love and that I hope to do for a long time.

Everybody calls him in an inspiration because this is not something that's ever gotten him down.

We are so proud of him.

Even though I have this syndrome, there's nothing that's going to hold me back from what I want to do.

While these were the symptoms Tanner experienced, the signs and symptoms of BBS can vary greatly from person to person.

To learn more about rare genetic disorders of obesity, including BBS, visit:

LEADforRareObesity.com
facebook.com/LEADforRareObesity

Lead for Rare Obesity logo

Rhythm, LEAD for Rare Obesity, and their logos are trademarks of Rhythm Pharmaceuticals, Inc.
© 2020, Rhythm Pharmaceuticals, Inc. All rights reserved. GL-NP-2000038 11/2020

Hear first-hand accounts of living with symptoms that may be related to a rare genetic disorder of obesity

Insights from 3 families living with symptoms that may be related to rare genetic disorders of obesity

Hunger is a main part of our life.

SYMPTOM 1: Insatiable hunger

And it is always on Nate's mind. It controls him. And hunger is right beside him. I want to say his best friend, but it's not; it’s his mortal enemy. Hunger is his mortal enemy.

KAREN
Mom to Nate, living with POMC deficiency, a rare genetic disorder of obesity

People think that I’m making it up sometimes, and I wish that they could get inside my body and that they could feel the physical sensations of hunger so that they would fully get how hungry I feel.

BECKY
Living with a suspected rare genetic disorder of obesity

SYMPTOM 2: Weight gain despite a restricted diet and exercise

I think there is such a stigma on obesity and it’s directly correlating with, “They must eat too much. They must sit around too much.” With individuals with these disorders, that’s just not the case. No matter how much we cut their calorie intake, no matter how much they exercise, they’re going to either continue being large or they’re going to continue gaining weight.

MOLLY
Mom to Joshua, living with a suspected rare genetic disorder of obesity

I’m gaining all this weight from what’s considered a normal amount of calories; that’s a definite sign that something’s drastically wrong and that it’s a disease state.

SYMPTOM 3: Severe obesity that starts early in life

Between the ages of 4 and 6 months, he had gained about 6 pounds. On average he had gained about a pound every week thereafter. He is the average height of a 6 year old.

And so I did a food log to see how much, and I’m like, “but this is what any child at 1 1/2 would eat.” And he was gaining 3 pounds a week.

It’s a hard job, so I had to focus on the good.

You can take steps to seek more answers about rare genetic disorders of obesity

Talk to a doctor if you or someone you know shows symptoms of rare genetic disorders of obesity

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www.LEADforRareObesity.com
facebook.com/LEADforRareObesity
© 2018 Rhythm Pharmaceuticals. All rights reserved. MC4R-C0087 December 2018.

Hear first-hand accounts of living with symptoms that may be related to a rare genetic disorder of obesity

"Every time we hear, 'We without a doubt believe Joshua has a rare genetic disorder of obesity,' it reminds us that it's not our fault. We didn't do anything to cause this."

MOLLY, MOM TO JOSHUA

"Every 5 minutes, he asked for food, or referenced food, or went to the kitchen to find food. I was swimming in the dark, not knowing what to do."

KAREN, MOM TO NATE

"Take your diagnosis as a source of power and knowledge. Use it to the best of your ability to better yourself and your community."

DENISE, MOM TO DRAKE AND EVERETT

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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www.LEADforRareObesity.com
facebook.com/LEADforRareObesity
© 2018 Rhythm Pharmaceuticals. All rights reserved. MC4R-C0089 December 2018.

Hear first-hand accounts of living with symptoms that may be related to a rare genetic disorder of obesity

"The best two pieces of advice that I have ever received and will give are: trust your instincts, and don't be scared to speak up."

MOLLY, MOM TO JOSHUA

Searching for Answers: Molly and Joshua’s Story

Joshua is 3 years old but is the height of a 6 year old and the weight of maybe a 9-10 year old.

Joshua was born a normal weight but he continued gaining weight right from the start. He gained 6 pounds between a 4- and a 6-month checkup and gained about a pound a week thereafter.

MOLLY
Mom of Joshua, living with a suspected rare genetic disorder of obesity

So I started keeping food logs and said, “This is how many calories he’s consuming. Would this amount justify this amount of weight gain that we’re seeing?” And I ended up hearing no.

He’s physically going over to the cabinet and requesting that snack or requesting the bottle or requesting another food item, and that’s happening continually through the day. So we believe that he is just continually feeling hungry.

So then we went into “Who can find answers for us?” mode.

Instinctually you know; we had continued going to the doctors and explaining that something’s just not quite right or different with Joshua than our other 2 children, and we got a lot of fussy baby syndrome, colicky baby syndrome. But that fussiness continued, and that instinct remained in my husband and I that something’s different and he is growing at a rapid rate.

Joshua’s doctors suggested genetic testing

Every time we revisit a doctor or go to a new doctor and hear “We without a doubt believe Joshua has a rare genetic disorder of obesity,” it’s validating, and it reminds us that it’s not our fault. We didn’t do anything to cause this.

The best 2 pieces of advice that I have ever received and will give are number 1: trust your instincts, and 2: don’t be scared to speak up. You are your child’s voice. You know your child best, and you are the one that’s going to step forward and make those choices and make those changes for them.

Rhythm is dedicated to shedding light on rare genetic disorders of obesity

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

LEAD for Rare Obesity logo
www.LEADforRareObesity.com
facebook.com/LEADforRareObesity
© 2018 Rhythm Pharmaceuticals. All rights reserved. MC4R-C0088 December 2018.

Hear first-hand accounts of living with symptoms that may be related to a rare genetic disorder of obesity

"I'm gaining all this weight from what's considered a normal amount of calories. That's a definite sign that something is drastically wrong."

BECKY
Heart in hands
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