So you think you might have EDS
So you've done your own research about Ehlers-Danlos Syndrome, you're familiar with the different subtypes, you've read my page about Ehlers-Danlos Syndrome, and something about this condition seems to hit home for you. Maybe you're completely convinced that you have EDS or maybe it's just a nagging thought in the back of your mind. Either way you're probably thinking, "so what now?"
As Dr. Alan Spanos said, "patients are usually right if they think they have EDS."
Not always, but usually. Make sure you don't fall into the trap of self-diagnosis. There's a huge difference between being an educated patient advocating for a correct diagnosis and treatment and self-diagnosing. Don't lose sight that your goal is to get accurately diagnosed, not diagnosed with EDS or any specific illness.
First of all, I'd recommend joining Ehlers-Danlos Facebook support groups which can help you navigate this part of your journey, provide emotional support, advice, and doctor recommendations. It may take a lot of time and energy before you find a doctor who knows enough about EDS to be able to determine whether or not you have it. It takes the average person with EDS 19 years to receive an accurate diagnosis of EDS. Advocating for yourself, while you're already physically suffering, can be an exhausting and frustrating process, but please don't lose hope (you can read my blog post here about what to do if your doctor isn't listening).
The worst thing you can do to a prideful doctor is interrupt them by saying "I think I have EDS." Instead, present your doctor with all the information you've gathered, and ask them what they think. It's very important that you respect your role as a patient and the doctor's role as a doctor, while simultaneously advocating for yourself. Just because you think you have EDS, doesn't necessarily mean you do have EDS, as there are many conditions with similar symptoms. However, a helpful, open-minded, and trustworthy doctor will help you figure out the cause of your symptoms, instead of dismiss them as nothing or something psychological. If you find yourself, in this position, leave.
How is Ehlers-Danlos Syndrome diagnosed?
In the online chronic illness community, I've often seen patients diagnosed from a variety of different specialists. Any EDS-literate doctor can diagnose EDS based on the Beighton score Brighton criteria, however, genetic testing for you and your family members can be extremely beneficial in figuring out what subtype of EDS you have. So seeing a geneticist is a key step in receiving an accurate EDS diagnosis.
"If you think you might have one of the Ehlers-Danlos syndromes (EDS) or hypermobility spectrum disorders (HSD), and particularly if someone in your immediate family has been diagnosed, ask your doctor if a diagnosis fits your symptoms. If they choose to, any doctor who can diagnosis a disease is able to diagnose EDS/HSD; but most likely you’ll be given a referral to a geneticist, because EDS are genetic disorders and geneticists are most adept at distinguishing between those diseases, as well as in doing any testing necessary to differentiate EDS/HSD from the more than 200 other heritable connective tissue disorders.
A diagnosis is important because, although EDS/HSD are not curable, they are treatable. Knowing the type of EDS/HSD gives you and your medical team some idea of where problems might come from and why they’re happening. When eventually there is a cure, you’ll know to use it. And as more of us are diagnosed, EDS/HSD gain the attention all of us need, increasing the likelihood of expanded research that might lead to finding that cure.
Your path to an EDS/HSD diagnosis starts with an examination. There may be physical testing: using the Beighton Scale to assess how mobile your joints are, a search for abnormal scarring and testing your skin to determine what it feels like and how much it stretches, as well as any additional tests your particular doctor feels are needed. There’s likely to be a look into your medical history to look for conditions and problems associated with EDS/HSD, and a discussion of your family to help determine if an EDS/HSD was inherited.
Diagnosis of an EDS subtype comes by finding the one that most matches your symptoms. There are clinical criteria that help guide diagnosis; your signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including HSD, as well as a lot of variability between them. So a definitive diagnosis for all the EDS subtypes—except for hypermobile EDS (hEDS)—also calls for confirmation by testing to identify the responsible variant for the gene affected in each subtype. These molecular testing results also provide the basis for genetic counseling for our families, guidance on treatment options for ourselves, and help in reaching research goals.
The genetic basis for hypermobile EDS is still unknown, so an hEDS (or HSD) diagnosis rests on the criteria and what your doctor finds during your examination. The hEDS criteria also established serious consideration of joint hypermobility with all related symptoms and conditions, with hEDS at one end of the spectrum. HSD can be no less consequential than hEDS, either to your health or concern for treatment."
Good luck and don't lose hope!