Friday, June 6, 2014


The most common question I am asked is this: "How did you find out about Hazel's condition?"
In retrospect, there were several occasions that pointed to achondroplasia. As mentioned in my first post, her large head size was noted at my 20-week ultrasound, and we noticed at birth that her arms and legs were short. But we thought it was "just Hazel". We figured she hadn't grown into her body yet; babies spend 9 months all scrunched up in the womb, so maybe her arms and legs hadn't fully stretched out yet.
As time went on, Hazel fell lower and lower on the growth charts. When Hazel was three months, we started doing some research. One of my image searches directed me to Chelly's blog: A Is For Adelaide. When I first scrolled by the image of little Adelaide, I had to do a double-take. I thought it was Hazel!
This was too weird. How could Hazel look more like this little girl, whom we have never met, than like her own big sister? The nose. The forehead. The arms and legs. And that belly! All of these characteristic of achondroplastic children.
I loved reading Chelly's blog.
I contacted her, and she immediately responded back. She was so reassuring and sweet.
Weeks went by, and it was finally time for Hazel's 4-month checkup. We entered the pediatrician's office armed with a manila folder, containing growth charts. The appointment was the most nerve-wracking appointment I had ever been to. I began to have second thoughts
What if I'm wrong?
What if I look like a crazy person, who thinks something is wrong with my child, when she's perfectly fine?
What if the doctor doesn't think anything is wrong, but there is something wrong, and...?
What if?
The nurse called us back, and took Hazel's vitals before weighing and measuring her. When she left the examining room, we whipped out the charts, and mentally plotted her growth on both the average height chart, and the achondroplasia chart.
When the doctor came in, she was cheery as usual. That's what I like about her. She has an "it's all good" vibe about her. A very good trait for a pediatrician, dealing with nervous parents all day.
Wait. I'm one of those nervous parents.
She sat at the computer, and pulled up Hazel's charts, along with her newest stats. She mentioned things like blood work and hormonal imbalances.
Blood work?! They want to take my baby's blood? They will have to get through me first.
When she paused to take a breath, Tad jumped right in.
"Will these tests include testing for achondroplasia?"
By the end of the appointment, we were given a stack of papers. Blood work orders, and a list of both local blood-draw locations and orthopedists.
After a few weeks of going back and forth, we finally decided to take Hazel to AI DuPont Hospital. Her appointment felt like it was ages away. In the meantime, she got her blood drawn, and all blood work came back normal.
Sigh of relief.
Then we wait. Wait for the day to come when we would enter the doors of DuPont, and meet with the geneticist regarding our precious baby's condition.
The day finally came. Loading up the car, I felt like I was in a dream. Is this really my life? Is this really my kid? Achondroplasia? Really?
Then the what-ifs returned.
A quick stop for coffee, and we were on the road.
As I entered the building, my nerves eased up. The hospital was so open and bright. "Welcome" was sprawled across the wall in several languages. And there was even a coffee shop right in the entrance. The building was abuzz with parents pulling wagons full of happy children, and a joyful staff that was more than happy to help.
We were directed back to radiology, so Hazel could get x-rays taken. I sat with our oldest, Annabelle in the waiting room, while Tad took Hazel into the room. When they emerged, Hazel was happy and oblivious to what had just happened.
Another walk down a hallway to wait for our appointment with Dr. Boeber.
We were about to meet with a world-renowned geneticist.
He greeted us in the waiting room, and lead us to a meeting room. A long table, surrounded by four office chairs sat in the middle of the room. It wasn't the cold doctor's office I had envisioned. There was no examining table, with a roll of crinkly paper sprawled across it. Instead, just the meeting table and chairs. it was so much more welcoming than I expected.
Dr. Bober immediately gave us the news of Hazel's diagnosis. Achondroplasia.
We spent the next 90 minutes talking about the condition, and what to expect over the next few years. We discussed risks and complications, and how to care for her. We discussed what her future might look like.
In the midst of the whirlwind of information being thrown at us, Dr. Bober gave us a sense of normalcy. She, like any other person, will have her share of struggles. She will have her victories. She will get sick, and get better. She will have dreams and goals.
Hazel is just like any other person. She's just little.
Hazel is little and loving it.

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