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 you or your loved one’s unstoppable weight gain and insatiable hunger are very different from others who are overweight, but you feel unsure 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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© 2018 Rhythm Pharmaceuticals. All rights reserved. MC4R-C0088 December 2018.
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.
Here's why testing is important
If you suspect that you or your loved one might have a rare genetic disorder of obesity, talk to a doctor about genetic testing. It's important to get the right care for the condition as soon as possible, and you'll need to get tested to do that.
Having an official diagnosis can:
- Help your healthcare team develop a detailed care plan for you
- Help you get insurance coverage for tests you might need
- Help you qualify for research studies and registries
Testing can also help you identify other family members who might also have the condition and benefit from testing.
Most importantly, a diagnosis will provide the answers you've been searching for.
With any genetic testing, we recommend that you work with a genetic counselor genetic counselor A healthcare provider with in-depth training in genetic science and counseling who helps people understand complicated genetic topics and adapt to the medical, emotional, and familial implications of genetic diseases. to discuss next steps after results are returned. If you live in the the United States, you can click here to access a listing of genetic counselors in your area.
The path to diagnosis
If you feel that you or a loved one may have a rare genetic disorder of obesity, consider these next steps:
Talk to the doctor
Start a conversation with the doctor to discuss any symptoms. If you think you or your loved one may have a rare genetic disorder of obesity, say so. For tips on how to talk to the doctor, click here.
Consider genetic counseling
The doctor may refer you or your loved one to a genetic counselor or medical geneticist medical geneticist A specialist doctor with additional in-depth training in genetics and medicine. to discuss genetic testing. If you live in the United States, you can find a list of genetic counselors here.
Discuss testing options
After a detailed evaluation, the healthcare provider should be able to determine which genetic test makes the most sense, as well which testing laboratories your insurance covers and how long you or your loved one will have to wait for the test results.
Review the results
The results might be confusing, so it’s a good idea to talk to the genetic counselor or healthcare provider about them. They’ll help you or your loved one understand what to do next.
Potential barriers or challenges to genetic testing
You might come across these potential challenges if you choose to pursue genetic testing.
Challenge 1: The doctor does not test for rare genetic disorders of obesity
Some primary care physicians, pediatricians, and family care practitioners choose not to test for genetic conditions like rare genetic disorders of obesity. Their reasons may include:
- Not knowing which genetic test to order
- Not being comfortable interpreting genetic results
If the doctor isn’t able to perform a genetic test, you can ask them to refer you to a genetic counselor or medical geneticist. For more tips on how to talk to the doctor, click here.
Challenge 2: You are not able to obtain a referral to a genetic specialist
If you are not able to obtain a referral to a geneticist or genetic counselor, you may be able to find one yourself. Before you do, though, it is important to know:
- If insurance covers appointments when you don’t have a referral from the doctor
- If the specialist offers evaluation and testing for rare genetic disorders of obesity
- The expected cost of the appointment
The process for self-referring to a genetics center may be different depending on the healthcare system in your area and the number of genetics centers. The best practice is to call the center nearest to you and ask them how to proceed. A list of genetic centers in the United Kingdom can be found here.
Contact information on genetics and many genetic centers in the European Union can be found here.
Understanding the results of your genetic test
Genetic testing results don't always provide a “yes” or “no” answer right away. In some cases, genetic testing provides only clues on the path to diagnosis instead of a final answer.
If the results are confusing for you or the doctor, it can be helpful to work with a genetic counselor to figure out your next steps. The information below may also help you understand genetic testing terms and what they mean for your health.
If no disease-causing genetic variants are found, this is called a negative result. But even a negative result doesn’t fully rule out rare genetic disorders of obesity.
These are three things to know about negative test results:
1. What genetic test was done
Often with genetic testing there may be a second test that can help look more fully at a gene if the health problems strongly suggest there is a missed variant. You also need to know what part or segment of the gene and area around the gene was tested, as genetic variants in the areas around the gene can make a difference.
2. What genes were tested
There may be other genes that cause rare genetic disorders of obesity that were not tested.
3. What lab ran the test
It is important to have your testing done at a CAP- (College of American Pathologists) and CLIA- (Clinical Laboratory Improvement Amendments) approved lab that specializes in genetic testing and provides details about what part of the gene and area around the gene they test.
We are all born with variants or changes in our genes, but most are not disease-causing (pathogenic). If your test reveals a genetic variant, it will fall into one of five categories:
1. Benign Variant
A variant in the gene that is not going to cause health problems. This is considered a “negative” result.
2. Likely Benign Variant
A variant in the gene that is probably not going to cause health problems. This is considered a probably “negative” result.
3. Variant of Uncertain (or Unknown) Significance (VUS or VOUS)
A variant in the gene that may or may not cause health issues, but there is not enough information available to know for sure. As your doctors learn more, they may move this variant into the “benign” or “pathogenic” categories.
4. Pathogenic (Disease-Causing) Variant
A variant in the gene that is expected to cause health issues.
5. Likely Pathogenic (Disease-Causing) Variant
A variant in the gene that is expected or likely to cause health issues.
If you undergo a test for rare genetic disorders of obesity and it comes back negative, this result does NOT rule out genetic causes for your health issues. This seems confusing, but remember that doctors and scientists still have a lot to learn about the genetics of obesity. Also, remember that not every test can find all the different rare genetic disorders of obesity.
What happens after diagnosis
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 another knowledgeable expert in the rare genetic disorders of obesity community. Together, these experts will 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
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. Remember that testing is a personal decision—if your family members don’t want to pursue testing, that’s up to them.