Well, on Friday afternoon I received a call from Barcelona where the Dr told me that they believd that they had found the cause of Tália's condition. They had found a mutation in the mitochondrial DNA and to be more specific in A5514G. As usual, rather than receiving this news in the comfort of my own home, it was whilst driving to school to collect the girls on my hands free.
Obviously I asked many questions- what does this mean in real terms? What does it mean in terms of Tália, in terms of quality of life? What is the prognosis? Is this a diagnosis? Does it have a name??? But alas, these questions still remain unanswered. The Drs need samples from myself and Tália to be able to confirm diagnosis. So,it appears from this finding that Tália does have mito, although we have been down this route before and dont be suprised if I contradict this later on. We have been so close before and it has all been unfounded.
So how do I feel? Well to be honest, I have really thrown myself into the day to day care for Tália. I have really been enjoying her. I have felt very settled. A friend asked me, how do you live without a diagnosis, have I learnt to accept that I may never have one?
For the first time since Tália was born, I have really felt liberated, really believed that maybe not knowing was best - isn't ignorance bliss? Is not,no news, good news. Also I have seen many close friends and my lovely cousin lose their kids this year. It has made me realize that the quality is ever so important - we do not know what the next day will bring for any of us. By having no guidance, no diagnosis, I have also had infinite hope - nobody to place Tália in a box. No mental conditioning. I have come to realize that this has its advantages.
So, as you know with life, once you get comfortable with something and accept it, bang, answers will come. So how did I feel - well to be honest a little unsettled. Also my fear was that if they have found a mutation and this mutation came from my mitochondria, then there is 100% chance that my girls will be carriers of this mutation. This thought scares me.
Anyway, whilst I had this original discomfort, I have stopped myself there. Hasn't life shown me that there is no need to worry about something that hasn't yet been confirmed?? Couldn't Tali be the first one in the chain with the mutation??? If this disease is so rare, then the sky is still the limit. Nothing has really changed, Tália is thriving and I should focus on that and not lose my enthusiasm or direction.
So, I am back on track, I will need to plan a visit to Barcelona soon and I will need to follow up - but I am not going to cry over spilt milk that may never fall.
As you can see, I often need to work with myself on this journey. Just when I feel safe, there is a big suprise dip in the roller coaster. But I continue to believe that nothing is impossible, I continue to believe that the most important thing is that Tália is happy and content and not suffering. The love that we all feel is just incredible - the bond with her sisters, the bond with us is inexplicable and we need to make the most of this beautiful, although somtimes painful experience.
