I’ve been meaning to write this for a while now. I often pause, searching for just the right words. But my partner and I have found our footing, and I feel compelled to share our journey to encourage a new outlook, and perhaps offer hope to others facing similar challenges. With a three-month-old baby, time is a rare commodity, especially with all the diaper changes, feedings, and work in between.
When our son, Max, arrived in August, the doctors informed us of a potential complication—because his birth had already been so uneventful. After 36 hours of induced labor, he was delivered via C-section due to the umbilical cord being wrapped around his neck, not once, but twice. Shortly after birth, Max developed a respiratory infection, leading to a five-day stay in the NICU. While addressing his respiratory issues, the medical team also noticed some irregularities in Max’s bone structure.
In our family, we’re known for having larger heads. However, Max’s head size was significantly above average. X-rays taken to check for pneumonia revealed that his arm and leg bones, pelvic bone, and joint connections indicated a diagnosis of achondroplasia, which was later confirmed through a genetic blood test.
What is Achondroplasia?
I found myself asking the same question. After doing some research and conversing with wonderful NICU pediatricians and nurses, I discovered that achondroplasia is the most common type of dwarfism.
Dwarfism. My mind was racing. Our pregnancy had been ideal. All tests and scans came back normal. Did we unknowingly pass down some genetic trait? Did we do something wrong? Would this impact Max’s quality of life? The answers were no, no, and no.
Here are a few facts about achondroplasia:
- It occurs in approximately 1 out of 25,000 births. Since my partner and I are of average height, this resulted from a spontaneous mutation of the FGFR3 gene during conception—like playing one note out of tune in an otherwise harmonious symphony. Over 80% of individuals with dwarfism have average-height parents.
- Achondroplasia is classified as a form of skeletal dysplasia and is considered a rare condition (though we prefer not to label it a “disease”). There are over 300 types of dwarfism, with an estimated 651,700 individuals affected worldwide. Max has the most common type.
- Physically, achondroplasia is characterized by shorter upper arms and thigh bones, a larger head, a flattened nose bridge, and a shorter stature (the average height for males is 4 feet 4 inches).
- A useful way to think of it is to imagine how plants grow. If you overwater a plant, it won’t thrive. That’s similar to what’s happening with Max’s long bones—the FGFR3 gene mutation prevents them from growing normally.
The first few weeks were an emotional rollercoaster, filled with questions about why this had happened to us and how we could be part of that 1 in 25,000. I had to recalibrate my expectations as a new dad.
But then, with some deep breaths, support from family and friends, and a realization that yes, we were chosen for this journey, I found peace. This wasn’t an accident. Most importantly, we were blessed with a wonderful son. He has already brought our family closer together and filled our lives with a love that reorders our priorities. We’ve discovered incredible resources online, including communities of other families with children who have achondroplasia and organizations like Little People of America that have helped us see a bright future ahead. Studies show that children with achondroplasia tend to be motivated, hardworking, and natural problem-solvers—traits that remind me of my partner.
When you think about it, what does “normal” even mean? Height doesn’t define what is normal, just as socio-economic status, skin color, or eye color don’t. These are just percentages and statistics, not measures of normalcy. So, Max is just a regular kid; he will do regular things, attend school like everyone else, and have all the typical baby moments.
Yes, Max has dwarfism, but that won’t be what defines him. I truly believe that while he may be small, the impact he has on those around him will be huge. He has already changed our lives in ways we could never have imagined. Our hope is that friends, family, and anyone reading this will take the time to understand this condition so they can feel comfortable discussing it. We want to talk openly about it and raise awareness, so that any awkwardness can fade away.
Yes, Max has dwarfism. Yes, he is small. But most importantly, he is Max—perfectly and intentionally created. Max is destined to be an incredible little guy, a true gem.
For more insights on this topic, you might find it helpful to check out this resource on pregnancy and home insemination at UCSF, or explore the home insemination kit options available. If you have questions or need support, feel free to reach out through this link.
Summary:
This heartfelt piece recounts a father’s journey with his son, Max, who has been diagnosed with achondroplasia, the most common type of dwarfism. Despite the initial shock and questions surrounding the condition, the family embraces their new reality, focusing on love, support, and the belief that Max’s dwarfism will not define him. The narrative highlights the importance of understanding and raising awareness about dwarfism while celebrating the unique qualities that children like Max possess.