Is it time to consider taking steps toward diagnosis?

Individuals who don’t know that they may be living with a rare genetic disease of obesity often need to begin their diagnostic journey by trusting their feelings. You may have already recognized that the unstoppable weight gain and insatiable hunger are very different from the experience of others who are overweight, but you feel unsure about what could be causing the weight gain or how to describe it to the doctor. We may be able to help.

“He was growing at a rapid rate, gaining weight and getting longer. The doctors didn’t know what to tell us other than he’s a colicky baby, he’s fussy. Instinctually, we didn’t feel that was correct. We had to find the courage and confidence to tell the doctor, ‘We want this genetic test—we feel that it needs to be done.’”

MOLLY Mom to Joshua, suspected of having a rare genetic disease of obesity

Watch this video to learn more about the path to getting diagnosed with a rare genetic disease of obesity.

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

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When to get tested for a rare genetic disease of obesity

Take this brief assessment to learn if you or someone you care for may be living with an undiagnosed rare genetic disease of obesity.

ONE

Despite faithfully following a calorie-restrictive diet and exercise plan, did you or someone you care for continue to gain significant weight?

TWO

Even after eating a full meal, do you or someone you care for still feel very hungry?

THREE

As a toddler or young child, were you or someone you cared for considered significantly overweight?

FOUR

Are you or someone you care for classified as having severe obesity by your doctor? Calculating your body mass index (BMI) will help you answer this question. Click here to access a BMI calculator for adults, or here to access a BMI calculator for children and teens.

Results

Based on your results, a rare genetic disease of obesity may not be a factor for someone you care for. But it’s still important to talk to the doctor about symptoms.

Based on your results, you or someone you care for may be affected by a rare genetic disease of obesity and it may be time to talk with a doctor about next steps. Your doctor can schedule an evaluation to look for key clinical features of these rare diseases. He or she can also order a genetic test to uncover any gene variants gene variants Changes (also known as variants) in the standard “spelling” of a gene. Gene variants can result in serious health problems or be “silent” with no negative health effects. linked to rare genetic diseases of obesity. This information could help the physician confirm a diagnosis.

The importance of testing

If you suspect that you or someone you care for may have a rare genetic disease of obesity, talk to your doctor about genetic testing. While genetic testing is not required to diagnose some rare genetic diseases of obesity, it may help identify them. Genetic testing can help inform:

Potential eligibility for clinical studies
Appropriate disease management options
A possible diagnosis

You may be eligible for the Uncovering Rare Obesity^® program, a genetic testing program sponsored by Rhythm Pharmaceuticals. This program offers eligible individuals in the United States or its territories a genetic test and two genetic counseling sessions (one before and one after the test) at no charge. Participants are responsible for any doctor visit, sample collection, or other costs. Learn more here.

Taking steps to understanding

If you feel that you or someone you care for may have a rare genetic disease of obesity, consider these next steps:

1.

Talk to your doctor

Start a conversation about your specific symptoms and your personal and family medical history. If you think you or someone you care for may have a rare genetic disease of obesity, say so. Here are some helpful hints.

2.

Consider genetic testing

Genetic testing may provide useful information to you and your doctor. Learn more about the Uncovering Rare Obesity^® genetic test here. As part of the program, you may speak with a genetic counselor at no charge before deciding to take the test.

3.

Review the results

Genetic counselors can be helpful resources. They are trained to evaluate the results of genetic testing and help you understand possible next steps. Genetic counselors are available through the Uncovering Rare Obesity^® program. Learn more here.

What happens next?

If you or someone you care for has been diagnosed with a rare genetic disease of obesity, you might feel like you don’t have a good road map or that you’re totally alone. Here’s good news: There are some things you can do to find more support.