It’s been such a long time since the last blog. Usually this is either a symptom of a really busy life and struggling to find time to write or things ticking along and time marching along without me noticing. A busy period of time would be the main reason for not getting around to writing recently. I need to remind myself of something I have talked about before in relation to being reflective rather than reactive. As a psychologist, it is good practice to be reflective and give things thought from all angles.
I have a number of half written pieces which I will finish sometime soon, however the topic of this piece is something which has stopped us in our tracks this week.
When boy number two first began experiencing symptoms that were not of typical development, he had some blood tests done to check for any abnormalities. These were all normal. We were then offered the chance to take part in a large research study which mapped his entire genome, along with both mine and my husbands.
With his medication showing good effectiveness and his symptoms matching lots of those relating to episodic ataxia type 1 and periodic paralysis, an almost certain diagnosis was given, pending confirmation from the genetic testing. Genetic testing began when he was two. He is eight now.
A phone call this week from the genetics team has tipped all of this and what we thought we knew on its head! He does have ataxia, however, this is a symptom of an entirely different condition. He has a very rare genetic condition that is currently known to effect less than 100 identified people worldwide. It was first identified just a couple of years ago and I am sure that the identified population will potentially grow with more research, but it is extremely rare.
We are yet to meet with all of the professionals that we need to meet with and learn all that we need to know. This information is so brand new to us that we aren’t entirely sure of how it sits with us yet.
Here is a summary of my initial thoughts and reactions- some rational and some not!
This is a recessive gene, meaning that the two parents have to be carriers to pass it on and one in 4 children would be born with it. If we had this information previously, would we have even had boy number three?? That leaves me with all sorts of guilt. We love boy number two so much, but really I think what that means is that we would choose a life without this condition for him if we could (I know that would not be everyone’s thoughts but it’s my honest feeling). There is also relief that we didn’t know and never had to even have that conversation and decision.
Another place our minds went to was his future. What does that look like? Some literature mentions cognitive decline, and for us, I think this was the one thing that has stuck for the moment. I am sure we will process this in time and come to understand it much more.
What does it mean for his brothers if they decide to have children. We have been offered testing for them too. What does it mean for his cousins? How many of the family are carriers and how much do we need to look into it?
We felt as though we had got to grips with ataxia, understood it’s implications and found a community that we could be part of, and help boy number two to understand it and explain his needs. Now this is something we have to start again. We have been fortunate to find a small and supportive community who have welcomed us amazingly. We are looking forward to learning from this community.
In summary, it’s been a bit of a shocking week really. We are both delighted to have a definite answer to his condition and needs, but also apprehensive to learn more and know what to expect for him in the future. New specialists to get to know him and new management of symptoms.
We have been asked how we are feeling about it all and truly I don’t know the answer yet. I think we, he and his brothers will take it all in our stride as we always have. I am sure there will be bumps along the way too. One thing is for sure, boy number two is no different this week to last week, and this diagnosis can only help as we begin to understand it more.