My most recent diagnosis...

I was born with facial paralysis and hearing loss (severe in left ear, moderate in right ear).  In the last 36 years I have had this condition re-diagnosed several times.  At first, the cause was Moebius Syndrome.  The basic understanding of this syndrome is that somewhere between the brain and facial nerves, the message gets lost.  It was also understood that my hearing loss was not related to the syndrome.

This diagnosis was confirmed again in my early twenty's.  My family, neurologist and I looked into having a nerve transplant (where a nerve from my thigh is transplanted into my cheek.  It would allow me to smile), which was deemed not possible.

Then in my thirties, I began to look into the chances of passing Moebius Syndrome onto any children.  In early examinations/cat scans the genetic specialist (Dr Dixon) helped me understand that Moebius Syndrome is in fact a secondary condition caused by another condition called Calvarial HyperOstosis (translated as thick skull!).  Needless to say that my lovely brother, Bevan, thought it was hilarious that I now had medical proof of having a thick head!

Anyway, following this re-diagnosis, some of my blood was sent over to the USA for scientists to find the gene that involves Calvarial HyperOstosis...which they couldn't.

Earlier this year, genetic specialists Dr Karen Ong and Dr Joanne Dixon, contacted me to say that they now believe I have Cranial Meta-Physeal Displasia.  So more blood was sent to the USA and this time scientists did find the gene.  A confirmation.