I have a clinical diagnosis of hypermobile Ehlers-Danlos Syndrome (hEDS). Historically, this has been reported to have an incidence of somewhere between 1 in 2,500 and 1 in 5,000 people, making it a rare disease. More recent research indicates though it may not be this rare after all and maybe, it is simply, just rarely diagnosed. Either way, people living with hEDS remain a very underserved and disenfranchised patient population.
I’m not sure hEDS will be my final diagnosis. There are 14 known subtypes of EDS, some of which are extremely rare. I returned a variant of unknown significance (VOUS), which I am sure many of us have, on genetic testing. A variant which is indicative of a truly rare autosomal recessive subtype of EDS. A marker that if I were homozygous for (i.e. possessed two copies of the variant allele, instead of the one I have) would indicate a diagnosis of brittle cornea syndrome (which has an incidence of about 1 in 1,000,000) might be more appropriate. One of my doctors has posed the question, does the presence of this VOUS exclude my clinical hEDS diagnosis as it is a diagnosis of exclusion? We really don’t know.
Generally speaking, EDS is very misunderstood, often misdiagnosed and often blown off as a disease that solely causes floppy joints due to the most commonly occurring feature which is generalised joint hypermobility. This oversimplification isn’t true in the slightest.
EDS in all its subtypes is a classic multisystem syndrome, with all organ systems having the potential to be impacted. It is a heritable connective tissue disorder (HCTD), and connective tissue can be likened to being the glue that holds our bodies together. hEDS usually presents as a constellation of symptoms that can include neurological, skin and gastrointestinal manifestations along with musculoskeletal and cardiac issues such as mitral valve prolapse. But any connective tissue, anywhere in the body can be affected.
So, with this in mind, here goes. This is my somewhat still evolving story.
I was diagnosed with hEDS after the birth of my two sons. I had a lifelong history of chronic pain, migraines, dysautonomia and gastrointestinal issues. Despite this, it wasn’t until my pregnancies, which were extremely painful, and in the months after, when I was not recovering as expected that I pushed hard to find out the root cause of my symptomatology.
When my youngest son was about 12 months old, I finally got to see a clinical geneticist. Within the hour, she found I fit the criteria for a clinical diagnosis of hEDS. This for me was a light bulb moment – finally tying together a lifetime of out of the box medical issues and concerns.
Whilst maybe hEDS will prove not to be a rare disease, there are extremely rare subtypes of the syndrome. There are also rare comorbid conditions that can present with EDS. Two of which I have, and both of which greatly affect my quality of life. I have both a congenital fusion of my skull base to my first cervical vertebrae, atlantoaxial instability and severe basilar invagination. This causes stress and strain to my brainstem and symptoms of compressive and progressive myelopathy.
Throughout this journey, I have come to learn that Australians living with ANY rare disease need so much more. So much more in the way of prompt referrals and early intervention, as well as ongoing multi-disciplinary team care, and management, that is coordinated and cohesive. Sadly, for most, this level of healthcare system navigation simply does not exist and isn’t available.
That is why I, together with a small group of like-minded individuals came together in early 2024 to formalise the first national, and peak body patient advocacy organisation, Connective Tissue Disorders Network Australia (CTDNA). CTDNA is a Rare Voices Australia (RVA) Partner and is supporting the needs of all Australians impacted by HCTDs, calling for better access to healthcare. Care that is fully optimised, more coordinated, equitable and no longer fragmented.
My name is Janna, and I live with the HCTD, Ehlers-Danlos syndrome (EDS) – subtype and rarity to be determined.
Please support the work of CTDNA by following us on social media: @ctdnetworkaust on Instagram, and Connective Tissue Disorders Network Australia on Facebook. May is EDS Awareness Month.
