Patient advocacy shouldn’t mean having to fight for diagnosis

Posted October 8, 2020

Leah sits on her grass lawn

Getting an Ehlers-Danlos syndrome diagnosis is an ongoing process that can raise more questions than answers.

I had always been ‘flexible’ and had problems with my joints in childhood, but my flexibility was encouraged and any pain was brushed off by doctors as ‘growing pains.’ As a child, I briefly participated in dance and gymnastics but often ended up with ‘sprains’ and ‘strains’ doing day-to-day activities. After worsening pain and additional symptoms emerged when I was a teenager (like gastrointestinal and genitourinary problems, chronic headaches, and orthostatic intolerance), I told my general practitioner he thought I had hypermobile Ehlers-Danlos syndrome (hEDs). Despite my symptoms, I was dismissed.

A few years later, an immediate family member was misdiagnosed as having Marfan syndrome. This misdiagnosis kicked off a cascade of genetic testing through my family. Eventually, it was discovered that although there’s a genetic mutation of unknown clinical significance in my family, it’s not actually associated with Marfan syndrome (or any other heritable connective tissue disorders). Since I also have this genetic mutation but its significance is unclear, I was diagnosed with hEDS based on my clinical presentation: soft and somewhat fragile and stretchy skin, joint hypermobility with frequent subluxations and occasional dislocations, frequent musculoskeletal injuries, wide-spread pain, prolapsed bladder, gastrointestinal dysmotility and gastroparesis, and orthostatic intolerance.

When the diagnostic criteria for Ehlers-Danlos syndromes were revised, my diagnosis was revised, too. In 2018, I was diagnosed with Hypermobility Spectrum Disorder because I have symptoms of both hEDs and Marfan syndromes, yet don’t fulfill the complete criteria for either.

Often, receiving a diagnosis can bring a sense of hope or relief – relief that we now have answers to complex questions, and hope that these answers will guide better treatment. Except this wasn’t the case with my diagnosis – it took years to find answers, and I was misdiagnosed repeatedly. With each misdiagnosis, some questions were partially answered but new ones were raised. Even once I received an accurate diagnosis, there’s so little awareness about Ehlers-Danlos syndromes and other heritable connective tissue disorders that many healthcare providers are uninformed about the systemic impact of these conditions beyond joint hypermobility. While many doctors are unfamiliar with Ehlers-Danlos syndrome, most have never heard of Hypermobility Spectrum Disorder, especially since it’s such a new diagnosis. Moreover, although it’s always been challenging to find healthcare providers who are knowledgeable about Ehlers-Danlos syndrome, this has become even more challenging given that so many inaccurately assume that Hypermobility Spectrum Disorder is ‘milder’ than hEDs.

Getting a proper diagnosis only brings answers, hope, and a sense of relief if the medical community is knowledgeable about it. If there isn’t awareness or understanding among healthcare providers, a diagnosis is just a label that raises more questions and unknowns, rather than being a tool to guide treatment. Even though I now have an accurate diagnosis, many doctors have been reluctant to attribute well-known signs, symptoms, and comorbidities to my Hypermobility Spectrum Disorder not because the link is unclear, but because they’re unfamiliar with it. Only after years of advocating for additional testing and second opinions from specialists knowledgeable about heritable connective tissue disorders was I able to obtain an accurate diagnosis and tailor treatment and management strategies to fit my personal needs and circumstances.

Patient advocacy shouldn’t mean having to fight for diagnosis or proper care – it should mean patients are seen as collaborators and partners in care. I’m grateful to finally have an accurate diagnosis, but I’ll be even more grateful when this diagnosis is well-recognized and better understood amongst the medical community. Slowly but surely, we’re getting there.

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