Some dates are forever etched in our memories. I have a few but there are two I will never forget. October 6th 2014 is the first. It was the day my femur broke. It was a life changing day. A day that would start me on a journey with a rare bone disease, so rare that … Continue reading A Year Later…One Step, Two Steps…Will There Be A Third?
Category: Genetic Testing
World Rare Disease Day – February 28th (A Guest Post By Gina Baker)
February 28th is an incredibly important day, especially for those of us working hard to raise awareness about rare diseases. February 28th is the global Rare Disease Day. On my support forum, Medical Musings with Friends, I have many members with rare diseases. Some of these diseases have names, some are so rare they are … Continue reading World Rare Disease Day – February 28th (A Guest Post By Gina Baker)
A tube of saliva…. here starts the Genetic journey!
I received in the post today the kit from the Project team conducting the Next Generation Sequencing for Genetic Conditions, in particular bone diseases. You may remember I was invited and I agreed to participate in this research project in the hope that: 1. We might find some definitive answers as to why my leg … Continue reading A tube of saliva…. here starts the Genetic journey!