Hazel Update

For those of you asking how Hazel's appointments went last week:
1. Thank you all for your prayers and words of encouragement. It is easy to feel alone as a "special needs" mom. It means so much to me to know that so many people care about and love my girls so much.
2. Annabelle's behavior and patience through the morning was amazing! After a long car ride, late dinner, early morning, unfamiliar meals, and being away from home, we were prepared for the worst. But she gave us her best. We were in appointments from 8:30-11:30. Not once did she whine or complain. In fact, she was very curious, and excited to see Hazel's x-rays. Maybe we have a future x-ray technician on our hands?
3. I cannot say enough about the Ronald McDonald House! There was a moment when we thought they wouldn't have a room available for us, but they offered a room voucher for a nearby hotel since we had booked our room ahead of time. (Because they never know for sure how long a family will need a room, they cannot guarantee room availability). However, they called us back a few hours later, and reconfirmed that we would indeed have a room in the House. While there, the girls were able to enjoy the play rooms, and we were able to enjoy having hot meals provided for us.
4. Hazel's doctors are very happy with what they saw. Hazel's spine looks wonderful, and she is showing no signs of hydrocephalus or other complications related to her Achondroplasia. Yay! They want to see her again in 6 months for another followup.
5. She slept enough during her sleep study to get sufficient data. After screaming, and pulling at the nasal cannula  (used for monitoring oxygen flow) for a full 2 hours, she finally exhausted herself, and slept until 5am, only waking 2 or 3 times when she lost her pacifier. This time around, I personally slept better than her last sleep study, as I knew more of what to expect.

All that being said, we had a very wonderful trip to Delaware. We even got to meet with another LP family for a playground play-date.

Used with permission from http://www.aisforadelaide.com

Sleep Study

Once Hazel was diagnosed, our first order of business was to schedule a sleep study. Sleep study? She's the better sleeper between her and Annabelle. She has slept through the night since birth. There's nothing wrong with her sleep. Or is there?
The questions and doubt flooded my heart. She sometimes snores, especially when she's in her car seat. And she does that funny thing with her head to open her airways. Maybe she's sleeping too soundly. Maybe I'm sleeping too soundly. Maybe, maybe, maybe....
Deep breaths.
Count back from ten...
Nine...
Eight....
I can do this.
Seven...
Six....
Five....
One day at a time.
Four....
Three...
One step at a time.
Two...
One...
Okay. I can do this. We can do this. We will do this.
I had no idea what to expect as the day approached. I Googled, Facebooked, and did my research. I read blogs about other experiences with sleep studies. I saw pictures of other babies hooked up to all the sensors and wires. In doing so, I mentally placed Hazel in those hospital cribs, with the scratchy sheets and gauze wrapped around her face, wires surrounding her tiny body My heart broke. I was still at a loss.
The weeks passed, and the day quickly arrived for us to load up, and travel back to Delaware. Annabelle was so excited, as her and Daddy were going to sleep in a "princess bed " at the Ronald McDonald House. I was to stay with Hazel through her sleep study.
We had an appointment with the pulmonologist in the afternoon, which set my heart and mind at ease. The team at Nemours was friendly and welcoming once again. I cannot say enough for the staff there. Every person in that building greeted us with smiles, answering any questions, and extinguishing any concerns we had.
After we finished up with the pulmonologist, we took advantage of the beautiful weather and the playground. Annabelle was getting antsy, after being stuck in the car all morning, then playing quietly through Hazel's appointment. She was excited to have a chance to run, climb, slide, and swing her energy out.
Before long, we had dinner, and headed back to the hospital. Hazel took a catnap as we navigated the halls towards the sleep center. I got myself turned around at one point, and was helped by a kind maintenance worker, who pointed me in the right direction.
The room was plain. Nothing special about it. A couch on one side, a bed on the other, and a crib in the middle. It was all set up, waiting for Hazel.
This is it.
She was rather tolerant of the wires as they were glued to her hair and face. The technician wrapped a roll of gauze around her head and face to hold all the sensors in place, and wrapped more sensors around her torso. She looked a little silly, with her face all scrunched, peeping out of the gauze wrap. She didn't seem to mind at all.
She nursed.
And fell asleep.
And just like that, the study began.
She only woke a few times, and was settled back down without needing to be held, or nursed again. She really was a champ through the whole procedure.
6:30am came around, and the study was over, just as quickly as it began.
She was cleaned up and sent on her way.
That's it? We're done?
"We will have your results in about two weeks," we were told.
Two weeks? I  have to wait another two weeks to find out if my baby is breathing in her sleep?
When we received the results of the study, we were told that she showed no signs of central sleep apnea. In other words, she's not holding her breath in her sleep. This can be common in achondroplastic children, and can signify bigger proplems. Whew! However, she did experience some obstructive sleep apnea. Snoring. Her airways are so tiny, that any slight inflammation, irritation, or even a little boogery nose, can affect her breathing more than an average child. It wasn't bad enough to cause a need for a CPAP machine, but she was prescribed a few medications to help clear up her airways. She will also have a follow-up study in November, to see she is doing.
Yup. We get to go through it again.
But this time, I know more of what to expect.
Yes, she will be older. Yes, she will probably put up a fight next time. No, it will not be fun.
But it's in November.
Today, I am dealing with today.
Today, she is learning to roll, and reach for toys.
Today, she is starting to babble, and blow raspberries.
Today, she is smiling all the time.
Today, I am choosing to live in the present.
One day at a time.

Achondroplasia

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?"
Yup.
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.
Whoa!
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.