The Moment of My Daughter’s Diagnosis
May 30, 2014
Adelaide was born after a lengthy labor on April 17, 2012. She was perfect. Beaming up through eyes that spoke of wonder. We swaddled her and held on for hours. It felt like we could not sleep. She was too much to let go of her small body (18″) was a ball of cuddles that we’d waiting almost 39 weeks to hold.
As the weeks passed, I noticed she didn’t look like the other babies in my new mom’s group. She was… rounder. She was happy, and a great sleeper, but she wasn’t the same as the other babies and I couldn’t put my finger on it. Each morning as I dressed her, I saw that her clothes fit oddly, and her head struggled to fit in her onesies.
Her head is big, I remember saying to her pediatrician’s nurse as she took measurements at her two month appointment. Addie was 9 weeks… and the ball had suddenly been put in motion.
When the doctor came into the room to examine Addie, she took two looks at the measurements and whipped out her own tape measurer. She looked Addie over, asked me some questions, and cooed at her tiny patient. What was happening? I wasn’t sure. But my stomach was in my throat. You’re right, she confirmed about Addie’s head. It was bigger, but she was also measuring a bit small. To be safe, the pediatrician ordered an ultrasound of her head and x-rays of Addie’s long bones (arms and legs) to make sure everything was working as they should be, to be performed the following Monday, but we didn’t make it that far.
A few hot days later with a lethargic infant and incessant fever, Addie was admitted to Hasbro Children’s Hospital in Providence, RI. An emergency CT of her head was performed to make sure there was no abnormal fluid in her head- this allowed for multiple spinal taps to be attempted unsuccessfully (and without anesthesia of any kind) to check for meningitis. Due to her high level of dehydration, the tests were lacking enough fluid, and we were left to give her broad spectrum antibiotics.
Panicked, I called my mom (250 miles away) who hopped in her car and started the drive up.
Because the tests were already on the table, while admitted, Addie got her x-rays and ultrasound done. After hearing that her head and brain were fine and there were no signs of hydrocephalus, we were wheeled back to her room to wait. I tried to sleep, to read, to do something, but I was stuck in a whirlwind of what-ifs.
I’d read it all… so when a woman came in who introduced herself as a geneticist, I knew we were looking at something serious. I listened to her introduce herself and say that she just wanted to stop by and check in on us. She was asked to look at Addie’s x-rays… I stopped listening, but then she stood up, shook our hands and left.
I tried to nurse Addie, who was still having trouble eating, so I resorted to the pump. As I stood at the hospital room sink, burning my hands in the water, I looked up in the mirror to see the geneticist walk back in. I stayed there, forgoing the pain of the water for a minute. The look on her face was a nervous smile, not that of a confident woman. I sat down. I was prepared… but numb. The woman in front of me talked about the x-rays, the best doctors in Rhode Island, thorough examination.
Adelaide has Achondroplasia.
My husband asked what that was, but before he could finish his questions, I blankly said dwarfism.
I cried. A lot. I didn’t know enough about what was happening. Was this why she was sick? Would she be ok?
As it turned out, her dehydration was unrelated. She wasn’t great at latching, the summer was hot, and she had spiked a fever. That was why she was sick. Dwarfism was not an issue here.
In fact, here we are 2 years later, and dwarfism isn’t an issue anywhere. Some things are different- that’s for sure. Addie is a pro at staying still for x-rays, falling asleep with things attached to her head and body (sleep study), she can travel hundreds of miles by car without much issue to get to and from her geneticist in Delaware, and she’s encouraged to climb objects to get what she needs (where as other kids are told not to!).
When I think back to those days in the hospital, the fear and the unknowns, they scare me- how could I know so little about my own child? But they also serve as a reminder that what is different is not bad- difference is something to be celebrated and advocated. Our lives are different from most, of course… but it’s an amazing life. And that’s what means the most.
by Michelle Martinka. Read more of Michelle and Adelaide’s story on their site.
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