Diagnosing Ehlers-Danlos Syndrome
February 6 2020
Hi, my name is Caroline Bailey and I have Ehlers-Danlos Syndrome, a rare and difficult disease to spot . I and 48 years old and have been married for 25 years. My 3 children are Samuel age 24, Robyn age 20 and Darcey age 15. I also have a stepdaughter age 37 and 2 step granddaughters! I was only diagnosed at age 43 following my daughter’s diagnosis! This is the story of how we got there……
Ehlers-Danlos Syndrome = hospital visits!
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. Aged 10, he had an allergic reaction to rapeseed whilst playing hide and seek with his friends.
Sam had always wanted to play for Manchester United Football Club, even our health visitor said he would play for England one day! He bottom shuffled footballs until he walked on his first birthday, then he could kick! Sadly, a knee operation at 15 ended his football dream. We had not heard of Ehlers Danlos Syndromes.
Ehlers-Danlos Syndrome = covered in bruises.
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. Robyn fell over and banged her head in the same place so many times, she has a scar there now. Her legs were covered in bruises all from her dare devil antics. At 18 months, she climbed our 6ft dog pen with no fear. She was definitely a free spirit and her best friend was our golden retriever. Robyn fed him a box of rice crispies one day and stood there with her huge brown eyes like “what’s up Mum?”, I just had to take a photo!
At 12, Robyn was diagnosed with Osgood-Shlatter Disease, which is inflammation of the area just below the knees, having severe pain playing football. She was later diagnosed with Hypermobility Syndrome age 14. Still, we had not heard of Ehlers Danlos Syndromes.
All three children showed symptoms
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. We still had not heard of Ehlers-Danlos Syndromes.
Mum probably had it too
My mum died suddenly age 57 from a brain aneurysm the day after Darcey’s first faint. 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 I wanted answers. Nobody had talked about Ehlers-Danlos Syndromes.
Finally, a diagnosis!
I had recently been sent to genetics for Hypermobility following Robyn’s diagnosis and was diagnosed 9/9 Hypermobility EDS at age 43. It was proving difficult to obtain a diagnosis for the girls who had fatigue, bowel, bladder, and period issues. When 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 finally diagnosed with hypermobile EDS (hEDS) and PoTS (Syncope/vasovagal), Chronic Fatigue Syndrome and anxiety. There are 14 types of Ehlers-Danlos Syndrome that are currently recognised. We had to pay £2,000 to rule out the more severe types of EDS like vascular and classical, also Marfans Syndrome. Several months later Robyn was also diagnosed hEDS and PoTS. The girls were 13 and 18 at the time (2018).
Diagnosing EDS can take years
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. It 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. We now know that all these issues can be related to Hypermobility. 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 like hydrotherapy and physiotherapy can be a struggle.
Step 1: Find a good GP!
It’s important you find a good GP who understands, or is willing to find out about 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. My thyroid is also under active, some say this 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. We 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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