Fighting for the best

Nothing will ever come close to the multitude of emotions I felt on diagnosis day, but today has thrown me right back. I am feeling angry, frustrated, let down, deflated and on the edge of tears. How I’ve held it in all day I will never know. 

I’ve been feeling apprehensive all week with Hugo’s leg casting appointment looming over me. This morning I woke up feeling sick with nerves. Riley was playing up and it was a ‘normal’ stressful school run, filled with tears and fall outs amongst the daily morning rush. Not a good start to the day! I’m surprised I didn’t burst into tears when I met my mum at the hospital. As expected, throughout that appointment I was fighting my emotions whilst watching my beautiful boy have his legs put in casts to form a mould for his splints. Another reminder of the hideous condition he has. Hugo was amazing, as ever, and obliviously let the doctor do what was needed, absolutely clueless as to why he had to have this horrible wet stuff stuck to his legs. It was Hugo who carried me through yet again, his resilience and strength lifting me up. 

This afternoon, we had an appointment with the genetic specialist from Nottingham. I was led to believe that this appointment was to determine if I am a carrier and to discuss the implications that this could have for me and my immediate family, in particular my sisters who could also be carriers. However, the genetic specialist thought she was there to break the news to us that Hugo has Duchenne! I was gobsmacked, she was lightly approaching the subject until I realised what was happening. I was in shock that we’ve known for 4 months yet for some reason, I was sat in a room with a woman who had geared herself up to give us a devestating diagnosis! I told her we’ve known for almost 4 months and she had no idea that we knew. She didn’t even have the paperwork with Hugo’s specific gene fault information, I had to tell her myself. Once she realised I actually knew more than her, the tables turned and her attitude changed. She became abrupt and insensitive and left me feeling like an uncaring mother. She asked if we’d had any counselling or support over the last 4 months to come to terms with the diagnosis, and if we’d had any guidance with understanding the genetic side of things as this appointment was supposedly for that purpose. Only 4 months late! I was angry that we’d been left to do all the research about Hugo’s condition ourselves as we should have had this support put in place when we had the diagnosis. She gave the impression that I was more bothered about finding out if I’m a carrier than the health of my own son. There I was trying to justify why I was so calm and collected about Hugo’s diagnosis. I tried to be polite as I possibly could whilst explaining that actually, I’ve had almost 4 months to come to terms with this, discover everything myself and now sit and tell a professional his specific gene mutations, which she should know, because this appointment wasn’t offered to us when we actually needed it. 

If anything, this appointment confirmed that the care at Nottingham is not good enough for Hugo. The ‘support’ we should of had has taken 4 months to be provided, the specialist hadn’t forwarded the paperwork, and they are not in any rush at all to test me. I feel massively let down by the inadequate care at Nottingham and it hasn’t given me any confidence in Hugo’s future care with them, which is exactly why I want him transferring to GOSH. Now I am left waiting for a genetic consultant to decide whether I should be tested because she is now on leave for 2 weeks and won’t be forwarding the paperwork until she returns. I’ve had my bloods taken which are being sent to a lab for ‘storage’ until that decision is made. In the meantime, I’m left to deal with the fact that I still don’t know if I’m a carrier, after being told today that it’s highly likely that I am. If I am a carrier, I could already be suffering with heart complications but they don’t see any urgency in determining this. Not only that, but my sisters could be carriers, their children could be carriers or even have a different form of Muscular Dystrophy. Then it extends to my mum, her sisters, their children. But it’s acceptable for the specialist to go on holiday for 2 weeks and leave the paperwork until she returns! Great work, Nottingham! 

Here’s a photo of my superstar having his leg casts! 

 

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