And now, a word from Dad…

Since Mom has been doing all of the talking…it is time for Dad to have a “celebrity shot” on the family blog. So here it goes…

I remember the moment I knew something was wrong with Blaise. It was a gut-wrenching feeling, suspecting that there was something going on with my child that I couldn’t understand, much less fix. It was the week before Christmas 2019, and my parents had come to visit my family for a few days while I was working nights at the hospital, before we all flew together to meet up with my siblings and their families. That week I had spent my nights searching the web for something that might explain my Blaise’s behaviors. During my research I was confronted with the realization that he was clearly not meeting his developmental milestones. Wanting to test my hypothesis, one evening I carried Blaise away from the rest of my family and any distractions. I laid him down on the ground on his back, grasped his hands, and slowly pulled his shoulders off the ground bringing him towards a sitting position. He lay there as I pulled, body mostly limp, head and neck extended behind his body with a huge grin on his face.  “How’d he do?” my parents asked. “Not good”. It was my attempt at a “pull-to-sit” test, and at 10 ½ months he was still displaying a head lag; something a typically developing child should have grown out of at about half his age.

That was the moment I knew something was different. It was also the moment I started wondering how I hadn’t noticed sooner. How could I have just noticed that my son hadn’t even met his 4-6 month milestones? Had I paid so little attention to him? Was I too busy with other things to notice my child struggling developmentally? A lot had happened in the past few months, including a move to a different state, moving into a new house, starting a new job. I felt guilty that I had missed something. But I wasn’t the only one. Our pediatrician had repeatedly reassured us that his development was still within the realm of normal, that the second child often won’t meet developmental milestones at the same rate as the older sibling. It was reassurance we happily accepted despite growing evidence that our Blaise’s development was anything but typical.

The next week was an experience of mixed emotions. I hadn’t spent Christmas with my whole family in years, and this was the first year my siblings and I all had children of our own to celebrate it with. Christmas is by far my favorite holiday, and I still can hardly contain my excitement leading up to Christmas morning. My family swooned over Blaise and his endless supply of chubby-cheeked grins, and watching all the young cousins playing together was priceless. But this year was bittersweet. Our family holiday introduced me to a concept that I hadn’t given much thought to previously, but one which I now am constantly reminded of. Teddy Roosevelt once said, “Comparison is the thief of joy”. While this is certainly not true in all contexts, I started to understand why people might believe it. Blaise was born just one week before his cousin, and seeing Blaise every day, it seemed like he was making very slow progress toward his milestones. But seeing the two boys side-by-side really served to highlight just how far apart they were developmentally. Any hope of Blaise’s slow progress being within the realm of normal flew right out the window.

Interestingly, the next month of specialist consults and frequent lab draws didn’t seem to affect my perception of the seriousness of Blaise’s developmental concerns. The developmental specialist and neurologist telling us that they were really concerned with his hypotonia and ataxia didn’t change much for me. In my mind I already knew there was something wrong, I was just waiting on the name. The abnormal carbohydrate deficient transferrin screening test finally gave us a clue. A referral to the geneticist quickly followed. And there was the name. Not an easy one at that. PMM2-CDG, or CDG 1a. Not easy to remember, or to describe to concerned family members and friends. But it certainly described Blaise, and all the atypical behaviors and development he had been displaying. 

Kara complements me so well in so many ways. We also have very different ways of processing information, and when that information is your son’s medical diagnosis, the differences become quite striking. While I was busy pouring over published scientific literature on everything CDG (scientia potentia est), she sought out information and support in other places. She joined the CDG Facebook group long before I could bring myself to do so, and she quickly connected with other CDG parents and families. When she posted to the group with an introduction to our CDG family, it caught me totally off guard. Somehow no number of lab tests or medical opinions prepared me for the realization that we were now “one of those families” that I had read about. 

Just like the realization that our son is not typical, the realization that our family is not typical continues to evolve and unfold. We continue to discover the multitude of ways in which these new realities affect our lives, and we continually pivot to address new challenges. Overall, we’ve made a lot of good progress. Blaise grows more capable every day, and we remain hopeful that his capabilities will reach their fullest potential. Maybe, someday, there might be a treatment, or even a cure for PMM2-CDG. With all the ongoing research into this rare disorder, that possibility doesn’t seem so far-fetched.

Blissfully ignorant of it all, Blaise still showers us with the toothiest, drooliest grins that can melt your heart. From time to time I still need to remind myself not to compare, and to appreciate what he is able to accomplish today that he wasn’t able to yesterday (a more constructive sort of comparison). Like everything in life, it’s still a work in progress. Some days hold more than their fair share of “what if’s” and “if only’s”. Other days we’re pretty darn content with how fantastic our life is. 

Coming home to a smile like this, it’s hard not to consider just how fortunate I am.