EDS and the shame of our health service

 

MILLIONS of people world-wide are let down by health services continuing to dispute well-grounded international scientific research into the serious genetic disorder,*Ehlers Danlos Syndrome (EDS), and Hypermobility Spectrum Disorders (HSD).

*EDS refers to a group of inherited connective tissue disorders that affect various organ systems.

                                                 The zebra symbolizes the rarity and uniqueness of EDS and HSD,

                                and it serves as a reminder to consider less common diagnoses 

                                                                 when evaluating symptoms. 

“No other condition in the history of modern medicine has been neglected in such a way as Ehlers Danlos Syndrome” – Professor Rodney Grahame, Rheumatologist.

Professor Grahame advocates for a holistic approach to managing EDS. This includes addressing not only physical symptoms but also considering the impact on mental health, quality of life, and overall well-being.

He encourages doctors to listen to their patients, validate their experiences, and provide comprehensive care.

I’ve written about this condition in this column before – concerning our daughter who is afflicted by EDS and associated chronic illnesses including POTS (Postural Orthostatic Tachycardia Syndrome) as well as with Autism.

This time I am prompted to do so during EDS Awareness Month, which opened with a major gathering of researchers attending the recent HEDGE (Hypermobile Ehlers-Danlos Genetic Evaluation) Study Update held in April in New York, USA.

The  concern is that most doctors continue to 1: misdiagnose; 2:dismiss the science, telling patients it’s all in their head or; 3: and, this is perhaps worst of all, know something about the condition and yet won’t get off their backsides to learn more and so help those afflicted.  This is leading to serious mental health consequences.

It is an acute problem in Britain where one of the leading advisors is Jeanie Le Bon, an internationally recognised Movement Therapist specialising in Hypermobility, Ehlers-Danlos Syndrome and Chronic Pain.   (jeanniedibon.com)

She, too, is a chronic pain sufferer who has a lifelong lung condition called bronchiectasis, as a result of three episodes of pneumonia.

She also has EDS and Mast Cell Activation Syndrome (MCAS), *Postural Orthostatic Tachycardia Syndrome (POTS) and Chronic Fatigue Syndrome (CFS).

*POTS: when slightest movement causes adrenalin rush sending heart rate sky high while blood pressure drops alarmingly low, leaving you feint and giddy.

 

 

Le Bon highlights the work of Professor Rodney Grahame in Britain, who is

contributing much to research, clinical practice and education.  Professor Grahame is a distinguished rheumatologist with extensive expertise in hypermobility disorders who is striving for greater understanding in the wider NHS.

What does it mean to those who come face to face with doctors who are unable or simply refuse those to help those ill with these horrible conditions.

Here is an extract from Charlotte Twinley’s story on t

; the diversity and ability blog.

https://diversityandability.com/blog

“I was told it was in my head”: Life with Ehlers Danlos Syndrome

by Charlotte Twinley

 “It can take over 10 years to be diagnosed with Ehlers Danlos Syndrome (EDS).

I was diagnosed after about 5 years by pure luck.

When I was 10 years old, I started to have the odd stomach pain. After various doctors’ appointments and tests, nothing was found. It was suggested I tried going gluten and dairy free on odd occasions, which helped – sort of.

At 12, I started to injure myself a lot more whilst playing netball or hockey at school. Everyone just assumed I was ‘getting too into it’ (which I was, but that’s beside the point!).

Two years later, the stomach pains became worse. More appointments, referrals and tests still showed nothing. I had an endoscopy (where a tube with a small camera on the end is inserted down the throat to look at the inside of my stomach), which came back clear.

A couple of days after an intense hockey training session, I woke up and couldn’t move my legs. My dad carried me to different doctors and I had an MRI which, again, showed nothing. The doctors had no idea. They gave me a pair of crutches to drag myself around with, hoping that it might improve as I could still feel my legs. A week later, I managed to wiggle my toes and gradually – literally step by step – I started to walk again.”

 

Eventually, a consultant found out she was hypermobile (extra bendy) and often injured playing sports at school. He then referred her to a specialist in London.

Many more examinations followed and eventually they led to a diagnosis.

However, there is no cure for EDS and management of the condition is essential – and yet physiotherapists with the right skills are few.

 

In my family’s case, our local surgery was asked by the Royal Orthopaedic Hospital to source a specialist physio for our daughter. This was because they judged her too weak to take part in the Hospital’s rehabilitation program, until she had improved.  Our local medical team failed to respond.

That was 12 years ago.

 Similarly, the consultant at Kings College Hospital who diagnosed her with POTS and also requested our local doctors keep an eye on her. They have failed to do so…unless specifically requested to make a house visit for a “normal” illness, perhaps requiring antibiotics.

To cap the neglect, Surrey mental health services have also denied her psychiatric support because they don’t do Autism!!!!

 

Some facts for you.

EDS leaves you with weak connective tissue which can affect every organ in the body – causing bendy limbs which cannot support you. Or dislocation in some cases.

There are variations:

Classical EDS includes a skin condition – 1 in 20,000 people.

Hypermobile EDS: weak connective tissue, resulting in bendy limbs, and risk of dislocation in some cases. 10 to 30 per cent of the population.

Vascular EDS, the most serious, leads to weakened blood vessels and is estimated to effect 1 in 90,000.