In the fifth blog of the series about the rare disease, Ehlers-Danlos Syndrome, Daisy explains her journey to diagnosis

My Diagnosis

This is the 5th blog in the Ehlers-Danlos Syndrome series. It is about how I got diagnosed with hEDS and my journey to receiving a diagnosis.

I have had symptoms and issues with my body since I was a baby. I had lots of problems with my legs, hips and knees, was always injuring myself and struggled with exercise. Nobody knew about EDS though, so it was never suggested!

I was diagnosed with Epilepsy in 2012 and subsequently was diagnosed with Postural Orthostatic Tachycardia Syndrome (POTS)* in 2019. POTS is a common comorbidity of Ehlers-Danlos syndrome. When I got diagnosed, I came across Ehlers-Danlos in my research.

I spoke to my GP and got a referral to a local rheumatologist in Bedford. They did the Beighton test, which tests my hypermobility, and then practitioners can figure out the likelihood of EDS. Although they score my test wrong, they did refer me to the specialist hospital. The specialists for Ehlers-Danlos Syndrome are based at the Royal National Orthopaedic Hospital in Stanmore, London.

Diagram

I was on the waiting list for Stanmore for around a year. Although the waiting lists are long, it is 100% worth the wait, as they are the most amazing and thorough professionals I have ever met. I had my appointment in August 2019. They ran through the Ehlers-Danlos Syndrome Diagnostic Criteria (you can find this in more detail online). They then diagnosed me with Ehlers-Danlos Syndrome!

I feel very fortunate to have been diagnosed, as many people cannot get diagnosed until their mid-40s, due to the lack of awareness among professionals and the rarity of the condition. It took 19 years for me to get diagnosed, which is way too long.

It is important if you think you have the condition to get a referral to Stanmore, as they are the condition’s experts. They can make a full assessment, looking at all aspects of yours and your families medical history.

In the next blog, I will be speaking about Ehlers-Danlos syndrome’s co-morbidities, what conditions EDS can cause, and their treatments.

I hope those of you following this blog series are enjoying it!

* I will cover this condition in the next blog