Diagnosing Ehlers-Danlos Syndromes
February 6 2020
by Caroline Bailey
Hi, my name is Caroline,
I am 48 years old, married for 25 years and have 3 children, Samuel age 24, Robyn age 20 and Darcey age 15. I also have a stepdaughter age 37 and 2 step granddaughters! I have Ehlers-Danlos Syndrome (EDS), a rare and difficult disease to spot; I was only diagnosed at age 43 following my daughter’s diagnosis! This is the story of how we got there……
As with my childhood (please see my previous blog), my children’s childhoods were littered with illnesses and health events. Sam had his adenoids removed aged 3 and tonsils out a few years later and aged 10, he had an allergic reaction to rapeseed whilst playing hide and seek with his friends. Sam had wanted to play for Manchester United Football Club, even our health visitor said he “would play for England one day”, he bottom shuffled kicking a football most of the day till he walked on his first birthday but a knee operation at 15 sadly ended his football dream.
Robyn was my crazy wild child, one supply teacher said to me “I really like Robyn she is quirky”. She walked at 9 months and fell over so much my sister-in-law said I’d have to cover her in bubble wrap. She fell over and banged her head in the same place so many times, she has a scar there now. She had bruises all over her legs from her dare devil antics, she climbed our 6ft dog pen aged 18 months and had no fear. She was definitely a free spirit and her best friend was our golden retriever, she fed him a box of rice crispie’s one day and stood there with her huge brown eyes like “what’s up Mum?”, I just had to take a photo! Robyn was diagnosed with Osgood-Shlatter Disease, which is inflammation of the area just below the knees, age 12 after having severe pain playing football. She was later diagnosed with Hypermobility Syndrome age 14. My youngest child, Darcey, had her tonsils out aged 3 and then her bowels started to bleed for a couple weeks. She has had fainting episodes from age 5 now diagnosed as vasovagal-syncope – or fainting caused by triggers such as fear, pain, the sight of blood, etc.
My mum died suddenly age 57 from a brain aneurysm the day after Darcey’s first faint and we had just got back from hospital at 7pm when my mum fell ill at 10pm so we ended up going straight back to the hospital. 8 years later my dad died suddenly from a brain bleed/stroke age 65. My parents were divorced, and I hadn’t seen my dad for 8 years but my brother and myself wanted answers. I had recently been sent to genetics for Hypermobility following Robyn’s diagnosis. I was diagnosed 9/9 Hypermobility EDS/Jhs old criteria age 43. I was struggling to obtain a diagnosis for the girls who had fatigue, bowel, bladder, and period issues and it wasn’t until Darcey fainted and stopped breathing age 13 we had no choice but to go private in order to get the tests we wanted. Darcey was diagnosed with hypermobile EDS (hEDS) and PoTS (Syncope/vasovagal), Chronic Fatigue Syndrome and anxiety. We had to pay £2,000 to rule out the more severe types of EDS like vascular and classical, also Marfans Syndrome. There are 14 types of EDS that are currently recognised. We went back down to London several months later and Robyn was also diagnosed hEDS and PoTS. The girls were 13 and 18 at the time (2018).
The average time for diagnosis of EDS is 10 years according to the 2017 GP TOOLKIT, which can be found here: www.rcgp.org.uk/eds. The toolkit was designed so that GPs can diagnose Hypermobility (HSD) and Ehlers Danlos syndrome without having to go to genetics, unless it is a more severe type. Vascular EDS is life threatening with a high risk of aneurysm, aortic and bowel rupture.
Due to EDS being classed as ‘rare diseases’ medical students are not taught all the symptoms and different types in med school. We are also classed as medical ‘zebras’. “Zebra” is a term that is used to describe a surprising diagnosis. It derives from the saying “When you hear hoof beats behind you, don’t expect to see a Zebra”. However, a study was recently done in Wales and the new figures show Hypermobile EDS is 1:500 and not 1:5000 (https://bmjopen.bmj.com/content/9/11/e031365).
Our journey to obtain a Hypermobile EDS and PoTS diagnosis took so long and on a couple of occasions we were not even ‘believed’, and that all these issues can be related to Hypermobility. We now know allergies are also part of EDS and anxiety is very normal in EDS patients due to adrenaline and PoTS. I’m so glad we know what it is we are dealing with now. Accessing treatment can be a struggle, like hydrotherapy and physiotherapy.
It’s important you find a good GP who understands HSD/EDS to make referrals to specialists, EDS UK can help with this. Even things like the eye clinic and maxillofacial referrals are very helpful, like in our case. We have had to use aids in the past for things like hip injures and sprained ankles. I have some fabulous gloves especially for arthritis as I have osteo-arthritis, which is worse down the right side of my body. I also have an underactive thyroid, some say is related to EDS but I don’t know if this is true. We call Ehlers Danlos Syndrome “The gift that keeps giving” I’m being sarcastic by the way!
I wish we didn’t have Ehlers Danlos Syndrome but one thing it teaches us is to be brave, fight for what is needed and support each other in our community to raise awareness the best ways we can. I’ve met the most incredible people on my journey to a diagnosis.
For more information about EDS read my earlier blog: Discovering Ehlers-Danlos Syndromes or visit Ehlers-Danlos Support UK or the Ehlers-Danlos Society or you are welcome to get in touch with me on twitter (@robyndarcey5).
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