Author Topic: Daily Mail 12th January 2016 - GP takes 20 yrs to get her diagnosis!!  (Read 4602 times)

Emmerson Elliot

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Daily Mail 12th January 2016
'Mystery illness' diagnosed -  A Stiff zebra - EDS with NO joint hypermobility
 20 years to get a diagnosis - AND she is a GP (PCP) !

'Eventually, Kate found herself in the consulting rooms of Professor Christopher Mathias, an autonomic and neurovascular medicine specialist at St Mary's Hospital in London. After reading her notes, and noting the way she was trying to keep her head and body reclined in the chair to stop her dizziness and nausea, he tested her for hypermobility, that is 'double-jointed' or excessively flexible joints.'

'And if, like Kate, you don't have hypermobile joints that cause problems, you may never be diagnosed.'

Read the full article here:

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« Last Edit: April 21, 2017, 05:51:22 PM by Emmerson Elliot »

Ryan Ryder

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Re: Daily Mail 12th January 2016 - GP takes 20 yrs to get her diagnosis!!
« Reply #1 on: January 14, 2016, 11:42:38 PM »
Ehlers-Danlos Syndrome: Pandora’s Box.


January 2, 2015

I had been struggling with musculo-skeletal pain and fatigue for some considerable length of time and this had put a stop to me doing any exercise but blood tests never showed up anything particularly abnormal.

In February 2014 I finally got around to consulting a neurologist colleague and it was clear from examination that all was not well. And so started numerous investigations and visits to no less than 8 different hospitals and with excellent care, a few set backs and perseverance I was finally diagnosed with a genetic condition called “Ehlers-Danlos Syndrome.”

This came as a huge relief to me as I was finally able to understand why my body didn’t function properly. Retrospectively, it also helped to explain other unexplained medical symptoms in my family.

In the summer I was finding it very difficult to do NHS work at Prospect, and was having to lie on my couch between patients. This was post lumbar puncture and I found I could not sit or stand upright for any length of time without being light-headed and being unable to think straight – not a good position to be in when trying to look after my patients! Rather reluctantly it became clear I needed to stop work and spend some time getting the help I needed.

So 3 Professors and an Immunologist later I find myself with Ehlers-Danlos Syndrome (EDS) with associated PoTS (Postural Orthostatic Tachycardia Syndrome), and MCAD (Mast Cell Activation Disorder) which I am doing my best to manage on a day to day basis.

“EDS” sometimes called “Hypermobility Disorder” affects collagen in the body (a so-called connective tissue disorder) and in my case the defective collagen is multi-systemic affecting my musculo-skeletal, cardiovascular (blood vessels and heart), gut, neurological and urinary systems. So far my brain remains intact – fortunately no collagen in the brain! Long may that remain….

The difficulties with recovery from the lumbar puncture now makes sense – although a totally uneventful procedure at the time – the defective collagen prevents proper healing of the dura lining the spinal cord.

These are the lessons I like to think I have learnt:

Normal blood tests don’t mean there is nothing wrong with you.

We are not all perfect!

I am quite convinced that this condition is responsible for many patients seen in General Practice with non-specific symptoms such as chronic pain, and fatigue and that a sub-set of so-called Chronic Fatigue patients have EDS.

There is no cure (but The Genome Project looks promising) but it’s incredibly helpful to have a diagnosis – it gives you permission to go a bit more gently on yourself and sometimes put yourself first.

There are some wonderful health care professionals out there.

It is an unpredictable problem – so taking control of what you can with learning coping skills whether pacing or psychological techniques is helpful.

Chronic so-called Rare (although this is probably not so rare) Diseases are ‘Cinderella’ diseases.

Far more money for research and provision of care gets poured into cancer charities despite the fact that chronic disease can cause years of misery, dramatically affect quality of life for patient, carer and family.

The NHS is very poorly funded for these conditions and so many people never get a diagnosis or the help with self-management they need.

Many doctors, whether newly qualified, GPs or consultants are ignorant about EDS and its association with multi-systemic problems, as well as associated conditions such as PoTS.

Nothing changes if you don’t shout about it – so I intend to shout about it!


Emmerson Elliot

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Re: Daily Mail 12th January 2016 - GP takes 20 yrs to get her diagnosis!!
« Reply #2 on: February 11, 2017, 07:45:18 AM »

Here is a link to some good Fb  groups for anyone to wanting to learn more, discuss symptoms and treatments etc.,18.0.html