10,372 - Part One

I wrote a post a short time ago titled What is DMD in which I explained, as best I could, a little about the DMD diagnosis process and what it's like living with DMD. In that post, I did inject a little from our own personal experience of having a chid who lives with DMD, although, I did try and minimise that because the intention of that post was to tell you facts about DMD and not tell an account of our story.

Here, I thought I'd pick at the thread of our experience of having a child diagnosed with this life limiting condition, including what led us to have him tested in the first place, and the process of working through the diagnosis phase. I've alluded to some of these procedures and processes in other posts, but have not yet provided a blow-by-blow account of how it unfolded.

Our son was seven at the time of his diagnosis. That is considered a late diagnosis - most occur between the ages of about two to five. The thing is, we, like a lot of people had never heard of Duchenne muscular dystrophy (DMD) and we had no idea what we should be looking for.

Hindsight is a wonderful thing, and when we look back now, we can tell there were a few different points in time where had we known of DMD and the signs of it, we would have probably had Dominic tested. One possible early indicator was his sleeping habits. He loved to sleep, showing early signs of possibly being quite lazy - he would spend long amounts of time just laying on his back and choosing not to move too much. Often times, we would need to move him into different positions. I don't actually know whether this is an early indicator of DMD, however, knowing now what DMD is, and how it effects the muscles, I can't help but wonder if his lack of movement stemmed from an inability rather than lack of desire.

Like a lot of parents, we followed our child's progress. We even had a book, I think it was called 'The First 12 Months', or something similar and it was broken into chapters that outlined various milestones that children should have reached at certain months. I recall reading that book and trying to peg my son's progress against the benchmarks that the book outlined, and if he even fell slightly short, I would strain to think of just one time where he had done something similar. Kind of stupid when you think about the fact that all children progress at different speeds. But, again, with hindsight on my side, I do remember listening to a group of other parents discussing what their kids were doing - I think Dominic was 10 months old, and I did think at the time, that their kids seemed to be doing more than ours. (I didn't dwell on these things - I'm not a competitive person and certainly didn't pigeon hole my child as a result of this.)

By about the age of two, he was a happy child. Always smiling and laughing. He'd met all of the physical benchmarks each time we took him to the doctor's for his immunisations, and we had absolutely no reason to believe that we had anything but a healthy little boy. In fact, it was around this time that I began to notice his calves. They were huge for a child his age, and looking at them, I just saw something so powerful. I used to say to people that I thought he'd make a great rugby player, not because I liked rugby, but because I could imagine the forward running power that he'd be able to generate with legs that well built, and rugby seems to me a sport that needs that sort of running power. It also helped that he was a solidly built child.Who would've thought that what I viewed as a testament to a possible future career was actually one of the earliest indicators that something wasn't right.

As he moved into early schooling, kindergarten (pre-school) and then the first couple of years in school, we (us and his teachers) started to notice that he struggled keeping up with the other students in both academic and physical pursuits. One time I remember quite well was at his kindergarten's olympics - a day where they have a heap of little activities for the kids to participate in, culminating with a nice little medal awarding ceremony (everyone received a prize!). I attended, and as he made his way around the obstacles they had set up, it was easy to see how slow he was at navigating the obstacles compared with the other kids in his class. He had always been methodical and careful, and so, again, this wasn't a massive alert. We'd always been by his side at playgrounds and going up stairs, because he just seemed to lack confidence when using play equipment and he always used the rail when ascending/descending stairs.

He was tested by a speech pathologist at kindergarten as well, and we ended up taking him to private speech therapy due to difficulties in speech. He tried his best, but found that there were certain letters that just kept on beating him. One particular speech pathologist we took him to was of the old school, and I found this person to be more intimidating that helpful. Their overbearing countenance made learning scary and I'm not surprised that they complained that Dominic wasn't making progress. His being a timid child, I can understand why he didn't respond to their methods, and shortly after my first and only visit to this person, I pulled the pin and stopped taking my son to see this individual.

Around the same time, my wife and I were constantly discussing the various issues that were cropping up. There were numerous problems, and they were of a physical and academic nature. We were trying to coordinate with his school and external agencies to develop ideas as to how to address these issues. Unfortunately, we were addressing all of these concerns as individual, stand-alone problems and had no idea that they could have been related.

One such external speech pathologist (different from the one mentioned above) conducted some tests - I'm not sure what they are, but I'm pretty sure they were the standardised diagnostic-style tests to determine the level our son was at. At the end of the test, my wife was told that they had never seen results so poor and that the test must've been administered incorrectly. Turns out that the test had been administered in exactly the right manner and that the person who gave him the test had never worked with a child with DMD before.

About a year before his diagnosis, we took him to the Royal Adelaide Show, a large fair, or festival. He loved the rides in the children's section and went on pretty much all of them. As we were getting ready to leave he spotted one of the few remaining activities that he hadn't been on and asked if he could have a shot. The activity he'd spied was a large inflatable climbing castle. Essentially, it was a steep wall with two climbing walls on either side of a cool slide. The climbing walls were basically recessed holes in the almost vertical fabric of the blow-up castle. You could put your hands in them and grab a hold of the loose bits of fabric while your feet would insert into the same holes. It seemed like a harmless enough activity, so we let him go on and my heart broke as I watched him struggle to get purchase on the climbing wall. He would get a few 'rungs' up when he'd lose grip and slide back to the bottom - kids were overtaking him left, right and centre, however, his determination to get o the top so he could have a go on the slide was nothing less than courageous. I wanted nothing more than to go onto that ride and help him to the top, but the supervisor was adamant - no adults.
I watched on helpless as his time on the ride ticked by. All the other kids using the ride at the same time had used the slide at least four or five times, and Dominic still hadn't made it to the top yet. There was one point when he got to within one rung of the top, only to lose his grip and slip all the way back down to the bottom. Defeat was beginning to creep in and I could see him tiring, but thankfully, one of the ride operators had noticed his struggles too. They helped him get to the top on his final go so he got to slide down just as his turn ended. Neither my wife or I had been spared the heartache of watching as he tried time and time again to get to the top, but we had also seen the kindness of a stranger who had helped him.

Thank you for reading, please find the second part of this series here: 10,372 - Part Two.

References
Header image background: Unsplash - ANIRUDH