We recently celebrated the ninth birthday of my youngest son. The day was marked with beautiful weather and special activities of his choosing. The mood was light and joyful, but most of all, reclaiming.
Last year was different. While the weather was gorgeous and we celebrated with activities of his choosing, we also received news that would rock the world we knew. Last year was tough – not just for us, but for Owen, also.
While Owen’s medical diagnosis unraveled slowly over the next six months, I came to this realization … I think I always knew. I think I always knew that something wasn’t as it should be. When was it, though, that there were enough dots for me to connect in his story?
Although I felt sure of my own calculations, when doctors told me Owen’s due date was significantly later than I had previously calculated myself, that alone did not warrant any exaggerated concern on my part – but in the back of my mind I wondered … How could I have been that far off? How could I have miscalculated that much? It seemed like an egregious error!
When he was born, he weighed in at a much lower birth weight than my three older sons had. But he’d also been born without breath in his lungs and required resuscitation and level 2 nursery. No one seemed concerned over his size, however, because based on their calculations, Owen was born about 4-5 weeks early! I knew better and chalked his size up to fetal distress and a tumultuous birth experience.
I took him in for his one year old well-baby-check and was told that his height measured in the negative 10-percentile. Yes, that was -10%-tile! “What? I’m just going to tell people he’s off the charts and let them draw their own conclusions!” I thought playfully. It was suggested that he’d likely just be smaller in stature than most full grown men. I was offered the option of looking into growth hormones if I was overly concerned with his potential height, but I’d heard horror stories of children receiving growth hormones so I quickly declined. Two of Owen’s older brothers had slow starts, too. I’d just wait this stage out! But in the back of my mind, I knew none of his brothers ever clocked in at a negative percentile.
The incredible staff in the church nursery carried our little man for his first 22 months. One day, they set him down between their legs so they could use their hands and he walked away. They were shocked that such a young baby could already walk so well. I assured them that he was 22 months and had been walking for some time now. But in the back of my mind, I was growing more and more aware of Owen’s small stature.
At four years old, Owen would still crawl up the stairs at home. I knew he was small, so it made sense. Those stairs still looked HUGE to him from way down there. At this age, he also started to show signs of tiring easily on long walks or standing in lines at stores. He’d ask for rides in the wagon on our family walks and he’d squat down to rest his legs as we stood in various lines waiting to check out. Now, in the back of my mind, I knew I needed to start tracking what was going on with our sweet boy as I grew less trusting of my previous self-assurances.
The clues continued to build. When Owen was five years old, it began to feel awkward requesting size 3 clothing from relatives for Christmas gifts. When he turned seven years of age, we joked about his preteen swag. But in the back of my mind, I knew that it wasn’t a normal gait. Not on a seven year old boy.
Shortly after this came the night pain. I would tell him it was just growing pains and send him back to bed but I realized that he was coming to me more often than any of the other kids. And at this point, who was I kidding? He wasn’t growing! What was once relegated to the dusty shelves in the warehouse of my brain could be stored there no longer.
That proverbial straw that broke the camel’s back came when Owen turned seven years old. Although he’d been in martial arts for three years already, I noted that he wasn’t progressing like his peers. I was his instructor and was pushing him to do his personal best but his attempts seemed to be lacking. Later at home, I broke down a kick for him, asking him to replicate the motion. While I was trying to be gentle in my insistence for better form, he looked up at me with his deep brown eyes, tears now streaming down his little red cheeks, telling me, “I’m trying, Mommy!” At that instant, my heart broke because I knew something was definitely wrong.
It started as a check up with our family doctor. I told myself we were just checking to make sure that everything was OK. I knew better – but couldn’t speak aloud the concern that now gripped me. Our family doctor knew, too because he immediately referred us to a local children’s hospital for an MRI and x-rays and, soon after, to a pediatric orthopedic surgeon. “What are the findings thus far?” I asked our family doctor. “It’s either bilateral Leg Perthes or Multiple Epiphyseal Dysplasia,” came his calm response. “Once you see the specialist, you’ll know more.”
That evening I met with a group of friends for our Bible study. I asked for prayer for Owen – and for a sense of peace for me. A dear friend reassured me that everything would likely turn out fine. After all, she said, if you hear hoof beats coming down the street, you wouldn’t automatically think, “Here comes a zebra!” It’ll probably just be something that is easily remedied, she continued.
His appointment with the pediatric orthopedic surgeon, out of necessity, was set on Owen’s eighth birthday. He was saddened that he had to go to yet another medical appointment, especially on HIS day – a day where he had requested a trip to the zoo and a birthday dinner at, of all places, White Castle. We fit everything in around his appointment where we were told he had Multiple Epiphyseal Dysplasia (MED) and referred to a geneticist. Since I was expecting the diagnosis to be that of the more common Leg Perthes, I hadn’t prepared questions for this doctor regarding MED because I prepared myself for a horse, not a zebra! I was suddenly jumping mental hurdles the size of skyscrapers as I struggled to know what to ask him about MED.
In the course of the next six months, Owen endured many medical appointments and had more blood taken from him in one sitting than I suspected his small body contained. We cautiously curtailed his physical activity while we waited patiently for an answer; a final diagnosis. When it came, it was again different and I was again unprepared. It wasn’t a zebra … It was an entire herd of zebras.
Today we know what I think I always suspected – although I never suspected this diagnosis specifically. Owen has a change on his COL2A1 gene which causes Spondyloephiphyseal Dysplasia Congenita, a rare condition that occurs in less than 10 people in 1,000,000. It results in a short-trunk form of dwarfism – but it reaches so much further than his shortened stature. This collagenopothy will require him to have annual hearing and eye exams since people with SEDc typically have poor eyesight and hearing. Currently, Owen’s hips are not formed properly. While that gives him incredible flexibility that he likes to show off to his doctors, it also causes him to physically tire much faster than his peers. Eventually he’ll need a bilateral hip replacement to help him live life without pain. Additionally, his shoulder, elbow, wrist, and ankle joints are all affected and need to be monitored annually. Probably of greatest significance is the fact that this affects his spine. While his entire spine is flattened, his C1-C2 cervical vertebrae are underdeveloped … meaning all contact sports are out for him as are things like bumper cars, somersaults, and active childrens’ games since even simple falls could be catastrophic for Owen due to his underdeveloped vertebrae.
While Owen does not appear overly compromised beyond his shorter stature, I think I always suspected that somehow he needed attention; something was different. In this, I am reminded that, as parents, we need to follow our instinct when it comes to our children. I believe that God places a knowledge of our children deep within us, much like He foreknew us before He knit us together in our mother’s womb. We know our children. We are their first line of defense. We are their protection. We are their guardians. And while this alters some things in Owen’s life, our goals for our youngest son remain intact: know God, love God, and be a good person. And he’s totally on track despite these very earthly hurdles!
Did I suspect anything when we could carry this boy in a backpack? Yes, I did.
Owen runs a race with friends in the DAAA (Dwarf Athletic Association of America)
Thru Fresh Eyes 