You may be asking "so, why am I here?" and that is a good question. Let me first start with an apology (or series of apologies). I tend to be a little too sterile when talking and I will try my best not to be but one thing you must understand is the fact I don't tend to share my real life with people. In real-life I tend to support others and give little away beneath the masks I show but, in lieu of all that is happening and has happened, I know I need to challenge myself
This journey is just that - a massive challenge not only for me but also for my family.
As of December 2018 both my oldest son, soon to be 11, and myself have been confirmed as having a micro-deletion of a teeny-tiny bit of a little-known chromosome known as CACNA1C located on the 12p13.33 area. Yes for a lot of people, ourselves included initially, that will mean absolutely nothing and while the deletion is minuscule we are learning what likely impact it has on us.
I am acutely aware that there are other families far more affected by the rare genetic deletions, duplications and/or mutations but I need to remember that does not make our journey any less important. We are, all of us in the realms of rare Chromosome Disorders, Unique in our own ways and no single journey can be seen as anything other than a journey into the unknown.
What I hope to do on this Blog is share my experiences along the way. Yes, some posts will be retrospective and explain our journey to the point we are at right now and others will be up-to-date events. It won't be as exciting as my mask of an author but that's not what this is about. This is just about being open and, hopefully, help others who may similarly find themselves thrust into a world of chromosomes, mutations, deletions, duplications, syndromes, disorders, hospitals, tests, research and all manner of things that were until recently absolutely alien to us.
We are not alone, you are not alone and we intend to do all we can to help understand the little bit that affects us in the hope it will, in time, help others who may find themselves here.
Sorry in advance if I miss posts, bore you, rant or don't give you the right feelings in my posts but this will be my way to be open yet protected by the fact I'm not talking to faces, I'm typing to a screen.
Thank you for even reading this far.
G