My Story: Being Diagnosed
I thought it would only be right to start with where this rollercoaster journey began. The story of being diagnosed. The events leading up to it. The emotions attached and looking forward to the future.
Being told I had muscular dystrophy came as a massive shock. I lived for 23 years without a glaringly obvious sign, in fact the first sign was I started walking with a slight limp. I thought it was an old injury from when I used to play football or from my BMXing years. The other sign which I had never really thought about, I couldn’t go on to my tip-toes, not something you’d exactly presume was a neuromuscular disease which had been laying dormant in you for 23 years.
To be honest, looking back, I don’t think I’ve ever really processed the news properly. Maybe it’s the gravity of the news, maybe it’s pure disbelief. But what I do know is, the timing couldn’t have been worse. I had lost my dad the previous year, unexpectedly, after years of missed time, finally forging the deep rooted relationship which had been there prior. Then WHAM. something that even today I struggle to comprehend.
Fast forward a little over 12 months and my first visit to the consultant. I’d already had some other tests at this point. A physical examination at the doctors office, nerve conduction tests, blood test. This however was the big one. With the urgency of wanting to know, we paid for a private appointment. Sitting in his waiting room, I was still undiagnosed, unaware of the life changing news I was about to be told.
Leaving the consultants office, I had been told, with almost certainty that I had limb girdle muscular dystrophy type 2B (LGMD2B). However, I still felt a glimmer of hope. Maybe he’d got it wrong. Maybe there was a simple answer. Maybe everything could still be normal. The next step was the muscle biopsy. A small piece of muscle taken from my shoulder muscle to be tested. This would be definitive answer we needed.
The results of the biopsy coming back took some time, there’s only one place that can perform the test needed in the UK, that was in Newcastle. So a good few weeks went by and still I’d heard nothing. In the mean time my attention had been turn to my grandmother, she had been diagnosed with bowel cancer and given weeks to live. There was no time to wallow, I had to be strong, not just for myself, but for my Mom too. I after all, had been through the pain of losing a parent before her. Sadly, just before Christmas, she lost her battle with cancer. She had her family around her for the weeks prior.
It couldn’t have been more than an hour since she’d passed, I was standing in the hallway of her house, her son, my uncle had just turned up to say his goodbyes. My phone rang, a number I didn’t recognise and yet instantly, amidst everything, I knew exactly what it would be. The very thing I’d been wanting to know, yet wanted to ignore all at the same time. And that, that was the moment I got confirmation that the consultant’s suspicions were correct.
'How could the timing possibly have been any worse?'
Reflecting on the timing, in many ways it couldn’t have been worse. Yet in other ways, it meant I had to just get in with life. Put the news that I’d just been told to the back of my mind, put on my big boy pants, and help out with supporting the family where I could.
I know this one’s been heavy, perhaps a bit too much doom and gloom. Things aren’t however as bad as what maybe you first think. I have a fantastic family, I’m getting married this year, I have a 4 year old, I own my own house. All of this since diagnosis. As my wife to be always says to me, it will never stop us doing anything, it only means we may have to do things differently. I’m still not certain that I’ve come to terms with it. I do feel like I’m coming to terms with the fact I may never come to terms with it. I have a condition which progresses, so you can’t just come to terms with it. But I am at least trying to make this positive steps to help me and help others.
Be kind.
Love,
Jonno.
