This is the second post in this series, please read the first post before continuing. You can find it here: 10,372 - Part One.
Our frustrations continued to mount at not being able to nail down what was happening with our son. Again, we were looking at all of the issues as individual ones, and had not yet contemplated the idea that they might all be connected. Neither had any medical professional. A particularly concerning professional was a paediatrician who saw Dominic shortly before his diagnosis. The paediatrician was assessing him to determine if he qualified for the NDIS, a government funded initiative that aims to help people with disabilities. The person in question completed their assessment and diagnosed him with global development delay - evidently, a quite common diagnosis for children under the age of 7 where it's difficult to diagnose individual conditions, however, we were soon to find out that this paediatrician should have picked up on the DMD as a part of the investigation towards diagnosing the global development delay.
There are a couple of times during the diagnosis process that will forever be seared into my brain. I'll never forget where I was, what I was doing, or how I felt at the revelations I was being presented.
The first of these 'never forget' moments was about a week after my birthday in 2022. We had just had people over for lunch and they'd left early in the evening. My wife and I were sitting on the couch in the living room - I had the television on, and she was perusing the internet. From the corner of my eye, I saw her sort stiffen in her seat and she told me that she thought she knew what was happening with our son.
Obviously interested, but slightly skeptical that she'd found an answer on the internet, I gave her some of my attention. I heard something about muscular dystrophy and something else, and I remember, I thought that I'd heard of muscular dystrophy, but immediately dismissed it because I knew that it was quite severe, and there was no way that something that bad was what was effecting my son. No way!
The site she was looking at had a checklist of the symptoms associated with DMD, and as my wife read them out I mentally ticked against a checklist in my head:
Storm clouds rapidly grew in my mind as the checklist items were systematically ticked off. By the end, there was maybe only one, or two at most, that we hadn't seen able to say with any real confidence that he didn't display.
The question on both our lips: so what do we do now?
Further research showed that the first step to diagnosis was to have a blood test - one that could determine his creatine kinase (CK) levels. High levels were an indication that DMD was likely and that we should pursue genetic testing for confirmation. We 'ummed' and 'ahhed' for a while, not sure that this could actually be something that he would have, because who in their right mind would believe that their child was susceptible to something so serious?
The best way to prove he didn't have it was to get the test and see the results were normal. Rather than dilly-dally around, I booked an appointment with the doctor for the next morning. I had this dread growing in my stomach. To read what DMD does to a child made me cringe. How could my little boy possibly have such a terrible illness? There was no way it was possible. Over the next few hours, we found ways to make Dominic end up on the floor and we scrutinised how he got up each time. We couldn't determine anything for sure - some attempts seemed fine, while others he was quite slow. The one thing each attempt had in common was he would get onto his hand and knees, he then created an A-frame with his body by planting his feet and hands on the ground, and then he would walk his hands up his thighs to a full standing position. Every time, the same.
In our own way, both my wife and I spent the rest of that evening finding out what we could about DMD. The television long forgotten, I read my way through as many articles as I could. Understanding, for me, was key, although, I wonder whether I really needed to know just how devastating DMD is at that time. There were (are) no positives with this condition, and I was soon to learn if my son had it.
The following morning, I took Dominic to the doctors with the explicit understanding that I wasn't leaving without a referral for a blood test that focused on CK levels. You might be surprised to read that I actually had to beg the doctor to give us one, because he didn't think that there was any way that he could have DMD, even after I'd explained all of the symptoms and what we'd seen. My understanding is that, as mentioned previously, not a lot of medical professionals know what DMD is. The doctor performed a couple of perfunctory tests and pretty much dismissed our thought. I said that it wouldn't hurt to rule it out completely and pretty much insinuated that I wasn't leaving without a referral. The doctor reluctantly wrote one and we booked in a follow up appointment for the results and left.
Monday morning came and we headed back to the GP's for the blood test. The pathologist wasn't really well-versed in how to get blood from a child and I quickly realised that she wasn't going to have any success. Thankfully, so did she. Her recommendation was to take him to the local Women's and Children's Hospital because the nurses there are trained specifically in how to draw blood from children. I agreed with her recommendation and we drove to the hospital where the process was much simpler. In fact, it was downright easy. No sooner had we sat in the chair, than the blood had been taken and we were free to go... and wait for the results.
Possibly the longest week of my life. I spent my days in a daze and I struggled to focus on anything at all. A lot of my time was consumed with reading up on DMD and trying to figure it out. I caught myself, on one occasion, thinking that it would be handy if he had it because it would put to rest all of our worries over the numerous issues he faced. If we had one condition that could answer for all of the little ones, it might make life easier, but of course, I never really meant it. I was frustrated and didn't know what to do. I'd never wish this condition on anyone, and my thoughts of finding answers were totally selfish and uncalled for. Human nature can be a beast sometimes and my desire to find a solution made me consider something that is totally against what I really wanted for my son. Now that we know the truth, I'd happily trade anything to make him well again.
So, the following Sunday, I saddled my son up again and we ventured back to the doctor's for the results. I'll admit that I wasn't feeling too bad as we entered the surgery. I kind of figured that any major issues would've resulted in a phone call and an invitation to return to the GP's offices sooner. The doctor looked a little sheepish as we entered, and it was my guess that he felt bad for making me practically beg for the referral the previous week. I was way past that. Water under the bridge.
He started with some idle chit-chat and soon got down to business after I'd indicated my desire to hear the results and not make small talk. He told me the vitamin D levels wee down and that a few other things were up or down and then he said CK levels are a bit high. Okay, a bit high. What does that mean? A bit high? How high is a bit high?
10,372.
That's a number that I'll never ever forget. 10,372. It's the number that changed my life. To be really dramatic, it's the number of death. The doctor continued to offer his apologies and was very sympathetic, but I can't really remember much after that number was spoken. My shoulders are fairly wide, and I can carry a large burden, but would I be able to carry this one? To watch my son gradually lose muscle control, and eventually to... well, that doesn't bear mentioning, because I, like all parents of DMD children are constantly holding out hope that one day soon, a cure will be found.
References
Header image background: Unsplash - ANIRUDH
