I feel so bad for abandoning my blog, mainly because so much has happened since my last post. For some reason, I’ve just not found the time to write lately. So, this post will be more of a catch up than anything.
I will begin with Hugo’s latest paediatrician appointment. As a family, we have a great bond with Hugo’s paediatrician. He has been amazing from day one and I always look forward to our appointments with him, mainly due to the fact that we always come away feeling relatively positive. And that’s not because he sugar-coats everything, he really doesn’t, but he just has this way of helping us see light at the end of a very dark tunnel. This appointment was a brilliant one, there were so many positives. Hugo has recovered perfectly after his op, his heart and lungs are currently fine, his medication is making a huge difference with his North Star score massively increasing (a tool the physiotherapists use to assess his current mobility) and, for once, there were no major issues. It has to be probably the first appointment we’ve had that I didn’t return home a sobbing mess. He does have to go for another blood test but that’s just standard procedure to monitor the meds. All in all, it was good.
Hugo has also recently had a Goldsmith Postural assessment. This was an assessment to measure his position of the hips and spine, requested by the physio so they have a baseline to monitor his spine curvature. The most difficult part of this assessment was probably the location of the appointment. I had to take Hugo to a special school in Lincoln for disabled children. It was heartbreaking to see practically every single child confined to a wheelchair. One of the worst things about living with Duchenne is knowing what the future holds. There is no escaping it, you can’t think positively about the long term effects of Duchenne. It isn’t a case of ‘hoping it won’t get that bad’ or ‘maybe Hugo will have a milder case’. Duchenne is cruel and it has no limits. We know what this condition will do to Hugo and we know the approximate time frames. It breaks my heart to know that in less than 5 years time, Hugo will be one of those children. I’d like to think he will see the end of mainstream primary, but I very much doubt he would be able to go to a mainstream secondary. His autism will probably play a part in that too. Ultimately, as hard as it will be to send him to a specialist school, we will have to do what is right for him when that time comes. The actual appointment itself was fine, Hugo got a very good score and there are no major concerns with his posture just yet.
We’ve recently had an update on the genetics side of things too. I was confirmed as a carrier back in September, so following this my sisters and my mum all wanted to be tested, for obvious reasons. Nine times out of ten, if a woman is a carrier, their mother is also usually a carrier. I know my mum will be reading this, but ever since I started this blog I have been 100% honest about my feelings in my posts, so I’m not going to change that now (sorry, Mum)! When I found out that my youngest sister was not a carrier, I was relieved. Greatly so, she has two daughters who would also have been at risk of carrier status, so to know that my nieces can eventually go on to have their own families without having to go through any of this heartache was such a relief. My other sister had delays in being tested due to different NHS trusts but my feelings towards her were exactly the same, I never thought she would be a carrier and I very much doubt she is. Even more so now we know that my mum isn’t! Yes that’s right, my mum isn’t a carrier. This was hard to take. I didn’t want my mum to be a carrier, obviously it’s not something I’d want anyone to be as it can cause heart complications in female carriers. However, when I found out my mum wasn’t a carrier, I’m not going to pretend I wasn’t gutted. I was. Not because she wasn’t, but because I instantly felt a huge responsibility for giving this stupid faulty gene to my precious baby boy. I’m the only one who has the faulty gene, Hugo only has this because of me. If my mum had been confirmed as a carrier, I don’t think the feeling of responsibility would have been so heavy. I could at least have the thought in the back of my mind that it hasn’t come directly from me. And that’s not because I want someone to blame, and I would never have blamed my mum for it either, I just think it would have been easier to accept. It’s so hard to explain that I didn’t want her to be a carrier, but I did? I’m not sure how to say that without sounding like a total arse. Of course, there is the whole issue of extended family too. Had my mum have been a carrier, then my aunties would also have been at risk of carrier status, as would have been my female cousins. One of the first things to hit me when my mum told me her news, was that they would all be breathing a sigh of relief to learn that they were also now not at risk. Now I’ve had time to digest everything, of course I am pleased that none of them are at risk, but it hit me hard that day, and I couldn’t shake the thought that everyone else in my family would be thinking ‘thank god for that, thank god my daughter isn’t at risk of having a Duchenne child’. It absolutely sucks, everyone else would have been happy, and in my mind ‘celebrating’, while I’m the one left living the terrifying and heartbreaking nightmare of having a Duchenne child. I had a very bad night when all this came out due to feeling angry, confused and alone. I don’t feel that way now it’s all sunk in but it was hard to accept for a few days.
The whole Duchenne thing is a never ending journey, one with many ups and downs. After a bit of a wobble with the genetics results, we are going through a relatively smooth part of the journey right now. Watch out for a blog post on our recent Chessington adventures soon!!