Our Baby Has Dwarfism, But It Won't Be What Defines Him

I’ve wanted to write this post for a few months. Then I stop and wait, searching for the right words. But my wife and I are in a good place now, and I want to share our story to inspire a new perspective and maybe help others find hope if they find themselves in a similar position. I’ve had this on my list to write this post for the past month, but come on, I’ve got a 3-month-old, which equates to no time in between diaper changes, feedings, and work.

After our son, Luca, was born in August, the doctors told us there might be an additional complication — as if his birth was the definition of smooth already. He was born after 36 hours of induced labor resulting in a C-section because the umbilical cord was wrapped around his neck, twice. Following his arrival, Luca developed a respiratory infection and was sentenced to a five-day stay in the NICU. While trying to decipher the cause of the respiratory challenges, the doctors also noticed some irregularities with Luca’s bone structure.

My family are all official members of the big head club. But Luca’s was quite large — off-the-charts large. Additionally, the X-rays the doctors took to look at his chest for evidence of pneumonia revealed that Luca’s arm and leg bones, pelvic bone, and joint connections suggested a clinical diagnosis of achondroplasia. This was later confirmed through a genetic blood test.

What the hell is achondroplasia? I said the same thing. After some researching and time spent with awesome NICU pediatricians and nurses, we learned that achondroplasia is the most common form of dwarfism.

Dwarfism. My head was spinning. Our pregnancy was perfect. All the tests and imaging came back great. Did our family genes cause this? Did we do something wrong? Will this affect Luca’s quality of life?

Nope. Nope. Nope.

At this point, some facts about achondroplasia:

– Achondroplasia occurs in roughly 1 out of 25,000 births. Since Sarah and I fit into the category of “average height,” it was caused by a spontaneous mutation of the FGFR3 gene during conception. Think of it as playing 1 note out of tune in the world’s longest symphony. Over 80% of all people with dwarfism have average-height parents, as in our case.

– Achondroplasia is a form of skeletal dysplasia and classified as a rare disease (although we don’t consider it a “disease”). There are over 300 different types of dwarfism with an estimated 651,700 in the world. Luca’s type is the most common. This means that you could be as lucky as us to have a child with some form of dwarfism.

– Physically, achondroplasia is characterized by shortened upper arms and thigh bones, a big head, a flattened bridge of the nose and a short stature (4 foot 4 inches is the average height for males).

– A good way to describe what is happening to him is thinking about how plants grow. If you were to water a plant 24/7 it would never grow. This is basically what’s happening with his long bones. The mutation of the FGFR3 gene basically has the spout on which isn’t leaving any opportunity for his long bones to grow normally.

I spent the first few weeks on a roller coaster of emotion alternating between questions of why would God do this to Sarah and me, how could we be selected in 1 out of 25,000, and rationalizing that this vision new dads have for their children had just been reset for me.

But then you take a deep breath, get some amazing support from family and friends, and recognize that yes, God did choose us. He does have a plan for us and for Luca. No, this wasn’t an accident, and most importantly, we’re lucky to have an amazing son. He’s a great little guy. We’ve been able to find a wealth of amazing resources online from other families who have children with achondroplasia and the Little People of America organization, who have helped us see that the future is indeed bright. In fact, studies show that children with achondroplasia are more motivated, work extremely hard, are goal driven, and seen as natural go-getters. They are also super creative problem solvers. That sort of sounds like my wife, Sarah.

When you think about it, what does “normal” really mean? Height doesn’t define normalcy the same way socio-economic status or skin color or even the color of your eyes don’t define normalcy. Those things are just percentages and statistics, not normalcy. So, Luca is a normal kid; he will do normal things, and will go to normal school like everyone else. And he has normal newborn moments when his screams seem to pierce the space-time boundary.

Yes, Luca has dwarfism, but dwarfism won’t be what defines him. I’m confident that while he will be small, he will impact the people around him in big ways. He’s already blessed Sarah and me more than we’ve ever felt before. He’s brought our family closer together, spoken incredible words of encouragement through our friends, and built a protective bubble around us during these challenging few months. He’s filled us with a love and appreciation that re-prioritize everything around us.

Our hope is that the people in our life and those reading this will take the time to understand this condition so they can feel comfortable talking about it. Sarah and I want to talk about it. We want to raise awareness about it, and most importantly, we want people around us to not be afraid to ask questions because only then will any awkwardness disappear.

Yes, Luca has dwarfism. Yes, he is small. But above all, he is Luca — perfectly and intentionally made.

Luca will be an amazing little guy, a little legend.