When you hear hoofbeats behind you…

by frogpondsrock on September 6, 2012

in Ehlers Danlos Syndrome

Don’t expect to see a Zebra.

Unless of course you live with a rare illness because then you are surrounded by Zebras.

Ten years ago my eldest child Veronica, became ill with a mystery virus and together we jumped onto the medical roundabout in search of answers. It took seven years to get a diagnosis of Ehlers Danlos Syndrome and during that search we encountered the best and the worst that the medical profession has to offer.

Now Veronica is in hospital with her youngest child, Evelyn and the medical profession are again searching for answers.

Evelyn is having seizures and is spending all her time sleeping.

The ultrasound of my grand daughters brain was normal, her bloods were normal and the EEG was normal.

So our best case scenario which was epilepsy has been swept out the door.

Now the Doctors are looking for rare.

We are looking for Zebras.

Evelyn is going to have an MRI and a Lumbar Puncture and lots of blood tests, today and tomorrow.

The paediatric team here will be liasing with theĀ  paediatric neurologists in Melbourne as they test for chromosomal abnormalities, as well as for rare metabolic disorders.

It is the Lumbar Puncture that worries me the most.

In fact if I am honest the thought of a Lumbar Puncture on my tiny grand daughter terrifies me.