Individuals who don't know that they may be living with a rare genetic disorder of obesity often need to begin their diagnostic journey by trusting their feelings. You may have already recognized that your or your loved one’s 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.
Is it time to consider taking steps toward diagnosis?
“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 disorder of obesity
Watch this video to learn more about the path to getting diagnosed with a rare genetic disorder 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.
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 disorder of obesity
Take this brief assessment to learn if you or a loved one may be living with an undiagnosed rare genetic disorder of obesity.
The importance of testing
If you suspect that your or your loved one might have a rare genetic disorder of obesity, talk to your doctor about genetic testing. While genetic testing is not required to diagnose some rare genetic disorders of obesity, it may help with diagnosis of others.
Having a diagnosis may:
- Help your healthcare team develop a detailed care plan for you
- Help you get insurance coverage for tests you may need
- Help you qualify for research studies and registries
- Help identify other family members who might also have the condition
You may be eligible for Uncovering Rare Obesity, a genetic testing program sponsored by Rhythm Pharmaceuticals. This program offers a free genetic test to eligible participants in the United States. It excludes any office visit, copay, sample collection, and any other related costs. Licensed genetic counselors are available as part of the program to provide 2 counseling sessions (one before the test and one after). (Participants may choose to have one, both, or none of the counseling sessions offered through the program.) Learn more here.
Taking steps to understanding
If you feel that you or a loved one may have a rare genetic disorder of obesity, consider these next steps:
Talk to your doctor
Start a conversation about your specific symptoms and your personal and family medical history. If you think your or your loved one may have a rare genetic disorder of obesity, say so. Here are some helpful hints.
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 before deciding to take the test.
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 a loved one has been diagnosed with a rare genetic disorder 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.
Work with an expert
The best way to understand your condition is for you and your doctor to work together. You can also consult with a geneticist or genetic counselor. Together, these experts may help you develop the right care plan. For advice on how to talk to your doctor, click here.
Connect with others
Reach out to others in the rare disease community to share experiences, tap into their knowledge, give and receive support, and remember that you are not alone. You can access helpful resources and connect with the rare genetic disorders of obesity community here.
Talk with your family
Rare genetic disorders of obesity are hereditary. Make sure your family members who might be at risk for a rare genetic disorder of obesity understand their risk and how they can pursue testing if they are interested. Find out more about how rare genetic disorders of obesity are inherited here.
How can I take steps toward a diagnosis?
*Covers cost of test only—excludes office visit, copay, sample collection, and any other related costs to participant.