30 May 2022

Learning to look for zebras

Jacquie blogs about the symptoms and her late diagnosis of Ehlers-Danlos syndrome, which has the zebra as its symbol.

May is Ehlers-Danlos awareness month. I was diagnosed with this condition after comparing symptoms with a friend's daughter. It was not recognised when I was a child. It is a connective tissue deficiency similar to Marfan syndrome. I am not tall enough for that!

I had 8 teeth out when I was 5 as they came through without enamel; anaesthetic containing adrenaline wears off very quickly (ouch!) and gives me tachycardia; I have broken several bones without realising; have dislocated a toe which could not be put back in place; have the weirdest misshapen feet; cut my skin extremely easily which heals with a bright white scar; often get palpitations; scarily once felt something snap in my chest and felt my lungs filling with blood; bruise extremely easily; can dislocate my jaw by just opening it; can dislocate my shoulders with ease; can stretch my skin more than is "normal" but tend to bruise if I do and best of all can frighten people by bending my thumbs back to my wrist and bending the first joints on my fingers whilst keeping the second joints straight. I understand my asthma, IBS, stretched organs and ectopic gallbladder are a result of hypermobile Ehlers-Danlos Syndrome (hEDS).

The condition can be serious and life limiting but is not well known due to being comparatively rare. Thankfully I do not seem to have the most serious of its forms. One of the upsides is that I no longer have to go for mammograms as there is a concern that people with any type of Ehlers-Danlos can easily rupture veins. Another upside was hearing my doctor say, “Will you please stay off the internet, I will refer you to a consultant for diagnosis.” Since then I diagnosed someone else with syndrome in my workplace.

The zebra is a symbol of Ehlers-Danlos Syndrome as it is unexpected. "When you hear hoofbeats behind you, you don't expect to see a zebra ". However, sometimes when you hear hoofbeats it is a zebra.  Apparently medical students are taught to look for expected and well-known diagnoses when making a diagnosis.

The Ehlers-Danlos Society wants to ensure more people are aware of the condition in its many forms, however unexpected they may be. For the most part it is an invisible disability which can cause extreme pain. Symptoms vary enormously depending on the type a person has. Although it is hereditary I didn’t know about the condition until I mentioned it to a cousin. She said, “Oh, we were always having to put my dad’s shoulder back.”

For more information on Ehlers-Danlos syndromes, visit the NHS website.