Today was another bombshell. The news wasn’t exactly unexpected, but the timing was. I finally received my DNA results. It has officially been confirmed that I am a carrier of the Duchenne gene. My faulty X chromosome has resulted in Hugo having Duchenne.
This news brings with it a massive bag of emotions. I’ve said since day one that I will not allow myself to feel guilty if I was confirmed a carrier, but I couldn’t fight that feeling today when I received the news. I took a phone call on my lunch break informing me that I am a carrier and that an appointment will follow to see the genetic consultant in Nottingham. Done, end of conversation. Yet again, no professional support, just given the news and left to deal with it alone. My first immediate thought was that we’ve made a mistake agreeing to keep Hugo under the care of Nottingham.
Whilst I was on the phone, the tears just naturally came pouring out. I don’t even know why, I’ve known for ages that it was a high probability that I was a carrier, but I’ve been convincing myself the whole time that I can’t be. We’ve got two healthy boys, I wanted to believe Hugo was just a one off, a cruel act of nature. Unfortunately not. Hugo has inherited my faulty X.
Luckily, a caring hug was waiting for me outside and I composed myself to be able to go back into work and try to get on with the afternoon. I wasn’t going to go in the staff room, I just wanted to find a quiet room and cry it out. But, I spotted a friend who’s been a massive support to me and decided to go in. My face must have said it all, and within seconds I was a sobbing mess in the middle of the staff room. After the way I felt yesterday, today’s news just tipped me over the edge and I couldn’t hold it together any longer. After some much needed support, a hug and a cup of tea, I was able to pull myself together and get on with the rest of the day. People thought I was crazy for continuing to go to work in the early days, but I genuinely wouldn’t have got this far if it wasn’t for the support and guidance of the amazing people I work with. I am so thankful I received that phone call at work as I was in the most supportive environment.
I’ve spent the evening gathering my thoughts and trying to make sense of my feelings. It’s not been easy. I feel guilty, absolutely heartbroken that Hugo has to deal with this condition because of me. Yes, I know it’s not my ‘fault’ but it’s still come from me, and I still have to come to terms with that. Another part of me feels incredibly lucky that only one of our boys inherited my faulty X. We could easily have had 3 boys with Duchenne. And we wouldn’t have known until it was too late. But that thought brings with it another feeling of guilt, the feeling that I shouldn’t be pleased about anything when Hugo was the unlucky one to inherit the faulty X. Of course I am hugely relieved that Riley and Jasper didn’t, but I feel like I’m betraying Hugo because he has. It’s the most difficult thing to try and digest. I don’t know what I should feel, I don’t know what’s right or wrong. I don’t know how I should feel.
Then comes the rest of my family. My sisters, my nieces, my cousins. Every one of them could be a carrier, they could all go on to have a Duchenne child. Yes, they have the knowledge now to make an informed decision, and I would like to think that by the time my two young nieces start a family, that there will be a cure for Duchenne. But I still feel responsible for it all, responsible for the decisions that they might have to make later in life. Not to mention that my sisters may want to have more children themselves. This could stop them from doing so as it is now too risky. It doesn’t change anything for me, and I’m thankful that we didn’t know beforehand. I wouldn’t change Hugo for the world. However, if I knew I could have a boy with Duchenne, would I have risked having a boy? I don’t know. Most people close to me will be aware that we very nearly didn’t go ahead with Jaspers pregnancy. If I knew I was a carrier of Duchenne back then, it would most likely have been the deciding factor and Jasper probably wouldn’t be here today.
Is knowledge a good thing or can it ruin lives? I’m so glad we didn’t know that I was a carrier before we had the boys, so how can I sit here and say that it’s a good thing that my sisters/nieces have that knowledge? Again, it’s another one of those situations where there is no right or wrong answer. I also feel awful for my mum, she feels the same as me. Responsible for me being a carrier, responsible for Hugo having Duchenne. My Nana, my great Diddy Nana. This affects us all. So we have to stay strong together and not blame ourselves. If only it was that easy.
Duchenne is a shit. I hate it, I hate everything it’s putting us all through. But at the same time, it is making me appreciate my precious family more and more each day. Today is just another blow to deal with, there will be another one to face once this storm dies down. And that pattern will repeat for the rest of our lives now Duchenne is in it…