It’s all about the Genes! I’m about to become a Guinea Pig!

I received a long awaited phone call last week from a Qld Hospital Research Department, inviting me to take part in a research project that is aiming to discover what genes or new mutations of a known gene I have, that may be the cause of my disease. This was something my Endocrinologist had put me forward for last year when my leg broke, in the hope that we may be able to get some answers and hopefully a treatment solution for my rare bone disease.

My enthusiasm and quick response of “Yes” was welcomed by the research co-ordinator but as with everything there is a process to go through. Firstly, I needed to receive all the information in the mail and sign a consent form ( have done that already…I really am excited about this!) Once they receive my signed consent I will then receive a phone call from a Genetic Counsellor which I think will be a very interesting conversation. The reason for the Genetic counselling is that the genetic testing is called “Next generation sequencing for genetic conditions” and this could not only uncover the disease we are hoping to find but also other genetic conditions, that I may develop later or perhaps already have that hasn’t been considered as being the cause of my overall idiopathic disease.

I find all of this really fascinating and I’m not sure if that makes me very strange or if it is just one of my coping mechanisms.  I can happily stand outside of my own situation and just look at the scientific/medical side of things which just makes me stand in awe of how complex and wonderful our bodies are. Granted, they don’t always behave as they should and that can be devastating but despite that, it is intriguing and we are still all marvellously made!