Ask Dr Gary: Joint tissue disorders

At 44 I have always wondered what is wrong with my joints. It took a catastrophic knee dislocation, caused by a slip on the kitchen floor, for me to discover the answer.

The orthopaedic surgeon asked me: "Do you have hypermobile joints?"

I'd never heard the term before, but said: "Do you mean this?" Then I bent my undamaged elbow backwards.

I have rarely been taken seriously at the emergency department because the severity of the injury does not match how I did it. I'm waiting to see a geneticist to be investigated for Ehlers-Danlos syndrome (a connective tissue disorder causing joint and vascular problems).

Most medical professionals have no idea what EDS or joint hypermobility is. My doctor says he'd have thought of EDS long ago if he'd known my joints bend backwards. For me it's like it's normal as my siblings, mother and my daughter have it.

We've always shown off our party tricks - some are quite stomach-churning. And yes, I always showed off at yoga. I used to dislocate my shoulders to do one pose - it didn't hurt then, but I now wish I hadn't as I am in constant pain.

Thank you for spreading awareness about this problem.

- M.N.

Connective tissue disorders, as with autoimmune disorders, are well known for being difficult to diagnose early.

It is often only after years of symptoms or numerous complications that the "clinical picture" of many uncommon diseases becomes obvious. Just like a car mechanic or a lawyer, doctors have their areas of specialisation, and the days when one doctor could be well acquainted with all areas of medicine are gone.

What we aim for now is to get the patient to the right specialist at the right time. It usually works, but as your case shows we can always do better.

A two-way sharing of our knowledge and experience with patients and our colleagues is one way we improve our care.