It is likely you have been on a long search with multiple providers for an explanation for your symptoms and have come up empty. The exact cause for chronic disease oftentimes is hard to pin down. Or maybe you or your child went to a doctor who was concerned about the symptoms of hypermobility, joint pain, dislocations or a family history of aneurism.
There are many connective tissue disorders that can explain these symptoms. Perhaps you have heard of Marfan Syndrome (MS), Loeys Dietz Syndrome (LDS), or Ehlers Danlos Syndrome (EDS) and wonder if any of these apply to you.
All of these conditions are diagnosed using defined criteria and oftentimes genetic testing.
Some do not have a clear genetic marker for example Hypermobile Ehler’s Danlos Syndrome (hEDS) (although we are coming very close). Even without a clear marker, an extensive history and physical exam will lead to a clinical diagnosis. A clinical diagnosis is just as valid as one made through genetics in the absence of a known genetic marker.
There is much overlap between the 13 different types of EDS as well as some of the other CTDs. When there are signs and symptoms of multiple types, it is important to complete an EDS or CTD genetic panel in order to determine if there is a genetic cause.
I have over 7 years of experience working with and diagnosing all of the connective tissue disorders listed above including Hypermobile EDS. I work with 3 different genetics labs when ordering genetic testing. These labs will work with your insurance company for coverage and they all offer out of pocket payments if insurance is not an option.
It is my professional opinion that people with hEDS/HSD would benefit from a full functional treatment plan.
However, maybe all you want is a definitive diagnosis. While the treatment is more important than the labels, having a diagnosis may help you get accommodations for work or school, determine which referrals you may need for your symptoms, or help your insurance pay for Physical Therapy.
Please contact me if you are interested in pursuing a connective tissue disorder diagnosis.
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The Center for Happy-NESSS 