Delaware

And so… finally. How was Delaware?

It was amazing.
It began with me missing the exit, and ended with me in tears at Saladworks.
In the middle, I suppose, is what you want to read about.

We got up early on Thursday morning and prepared ourselves before dressing Addie in her finest romper (read: simple to get her in and out of). I must have been incredibly nervous, because I didn’t take one picture. Not a single one.

Once we were in my mom’s minivan, I set the GPS and headed to the closest Dunks. We loaded up on coffee and jumped on the PA Turnpike. My hands were sweaty, despite the chill in the air, and the drive went well. It turns out that Wilmington is only 70, or so, minutes from my parents’ house. Even missing an exit, we still got to the appointment early. We arrived and were directed to the clinic, where we were welcomed with smiles and open arms. But, enough of that- onto the meat:

We learned a lot of things in our 80+ minute meeting with Dr. Bober and his assistant, Angie Duker. These were the thoughts I’d had just the day after our trip about our experience so far:

We arrived at the train station just 15 minutes before we had to board. It was perfect timing. As we ran in through the thick drops of drizzle, Dave grabbed some milk for the coffee we had made, and we waited for the All Aboard to flip up on the Amtrak screen. We loaded ourselves onto the train; baby, suitcase, duffel bag, diaper bag, toy bag, lunch bag, milk cooler bag and car seat. Once settled in our seats, Addie took her bottle of milk. We pulled into Penn Station in New York a few hours later and I moved into a window seat. As we pulled out, Addie looked out the window, then back at me. Belly-to-belly, she plopped her head down on my chest and fell asleep for her nap. Right on time.

She awoke, her noggin popping up with a smile plastered across her face. Then a frown. Time to eat! Addie chowed down her milk and then happily cooed and spit for a while.

She was wonderful the whole ride; following her nap and eating schedules as usual- and making do with having to sleep wherever- including on my legs.

Then it was Thursday, October 11. The day began like the rest had in the previous week. I was up at 4:30am, unable to sleep through the night since receiving my copy of the sleep study. Mild disordered sleep.  What did that mean?

As Dr. Bober reviewed all the papers I had so carefully sorted (Medical Records, Birth Records, Early Intervention, Genetic Testing, Skeletal Survey and Results, Growth Charts), I was still nervous. Finally, he asked Dave and me what we knew about achondroplasia. I froze. What didn’t I know. I said a few things and he stopped me. We reviewed my biggest fears, from central sleep apnea to decompression surgery and hydrocephalus. We talked about milestones (I have some new charts… I will make a page for them!) and we discussed sleep. While Dr. Bober was not concerned, he did tell me to just keep an eye on Addie and if I notice any changes in her sleep to contact him. However, as of October 15th, when we went to the sleep specialist in Boston, we are scheduled for a second sleep study in March. The sleep specialist would like to see her central sleep apnea occurrences a little lower than they are. Who knew one person could need so many doctors, yet be deemed healthy?

Beyond that, we reviewed Addie’s soft spot and it’s measurements. We were told what to look out for and that a little bit of extra fluid is common, but nothing to worry about. We were told to feel her soft spot once a week. I check every night.

Dr. Bober also talked about spinal stenosis, and the difference between it being a feature of dwarfism and critical. I felt relieved to know that Addie doesn’t present with any signs of critical stenosis, but knowing that the first 24 months of life are where hydrocephalus, bowing and stenosis will most likely show up in childhood, I feel like I’m having a private countdown while I should be enjoying each day, I am bombarded with looking and checking and feeling and testing.

I know. I need to relax.

Then, we moved onto examining Addie: 23 3/4 inches, 14 pounds 2 1/2 ounces and a head circumference of 17.8 inches!
She can’t straighten her arms all the way, which is just another feature of dwarfism that many people have, and, after reading the doctor’s notes (sent to me in less than 3 weeks!), she shows some signs of bowing (bilateral genu recurvatum). Yes, I looked that up- as well as over 10 other “musculoskeletal” notes about appearance. We will be seeing Dr. MacKenzie in April, as well, and he will probably have more to say about that then.

There really wasn’t bad news, per se-,but there were some things to look out for and preventative measures that need to be taken. For instance, a common issue with achondroplasia is kyphosis. Addie presents with lower lumbar kyphosis (when you hold her, you can feel her spine stick out in her lower back):

The fear with this is that in the lumbar region of your spine, your bones sit parallel. If your spine curves the opposite way, the bones will grind into each other, causing the bones in the spine to break and look “bullet-shaped”, instead.

This is not Addie’s spinal x-ray, just an example.

When we hold Addie, we need to provide full back support. That includes when she is up against our chest, applying slight pressure to the base of her spine to help straighten it out, and when she is in our lap, letting her lean against us. Anything she sits in needs to be a hardback, allowing her to conform to what she sits in and not the other way around.

Pressure on the low back.
Leaning back to create spinal support.

Sadly, this limits our carrier time to never. I had always imagined myself a baby wearing mama, but having a healthy baby means more- and so, my arms are always full and so is my heart!

Addie’s first pic in the Bjorn… before we knew!

What IS good for her, however, is tummy time, as it brings her back into an arch… which is great! She is a happy camper on her belly, for the most part, and (as of October 27th) if she doesn’t want to be on her back, she rolls to her belly = A total baby-body workout!

Addie playing some music on her belly!

Some more interesting facts:

* Due to the shape of the ribcage, the liver is [usually] able to be felt. This is not true on an average height child, which is something to alert doctors of should they have a concern. Sometimes, it is falsely interpreted as a swelling.
* Addie’s arms do not fulling extend by about 20% at the elbow. This is totally normal, and should not inhibit her in any way. She does have lower muscle tone, primarily in her arms, but that is just another feature of dwarfism. As well, her limb disproportions were noted in her arms as rhizomelic, and her lower extremities are rhizomelic light. This refers to her arms as short (the long bones) and her legs as mildly (for a dwarf) short. She will, most likely, be around 4 feet tall.
* The diagnosis of achondroplasia could have been made with ONE x-ray of her pelvic bone! The blood test, however, confirms it.
* Dr. Bober feels Addie is doing great! (This is my favorite fact!)

And so, this is how Delaware went.

We met with a great family when our appointment was over, there were lots of smiles and handshakes and then we were leaving… and I was shaking. I was gripping Addie so close to me I could feel her little Buddha-belly flatten against me.

Dave and I decided that we had not eaten, and so we needed to get food in Delaware. (If you’ve ever seen me hungry, you know it’s a sight better left for horror films and psychiatry studies.) We made a left out of the hospital and came across a Saladworks- one of my favorite places to eat. We walked in and parked ourselves at a table after glancing at the menu. I knew what I wanted, and as I told Dave I looked over at Addie. Perfect. Small. Addie. And I grabbed Dave, locked myself in his grasp and cried into his shoulder. I cried for the relief that Addie is OK. I cried for the fact that she will have struggles. I cried because I have not slept through the night since she was born.

We learned a lot, and we will continue to learn. Thank you for taking this journey with me as a woman, as a mom, as a parent, as a friend.

8 Comments

Filed under Achondroplasia

8 Responses to Delaware

  1. Laurie

    i am so glad that addie did so well, but you poor child, need to take better care of yourself too. it is ok to rest when addie sleeps, you don’t have to be perfect, you just have to love your baby. which is easy with addie. she is beautiful and you are doing a great job. baby sitting offer is an open one.

  2. rachel

    I don’t know if this is terrible or normal. I hope it will make you feel part of a community – but the question is a community of what – whackos, perhaps. I worry non-step about my child dying. He is, by all reports, generally normal in every medical respect – save asthma and some food allergies. Nevertheless, I have imagined his death a thousand ways. And how it would end my life, kill me and break my heart and soul into a million unrecoverable pieces. I think it has gotten somewhat better as he has gotten older and sturdier, but I know it will never pass. In this world there are cars, guns, ladders, slippery floors, cancer , drugs and a million other things that could end it all. When his asthma acts up or when I *think* I hear him wheeze, which is just about every night – I sit there and stare at him – suddenly alert and pumped with adrenaline. I lie with my head on his chest. And I weep in fear. I feel your pain, my love. It is different than mine, but it is at root the same. These children are amazing. They are entrusted to our care. What if, what if, we fail them – fail to recognize the instant that something minor turns into something major. It is the excrutiating reality of being a parent (at least for me) but I wouldn’t trade it for all the world.
    Now, on the flip side, you and I have two of the most spirited little fighters around. They will overcome a million adversities, some of them large and many we will never know about. They are smart, strong (Addie is crazy strong with all her belly time and rolling over!) and got a big ol’ dose of the fire that fills their mama’s souls. We should be worried about the rest of the world, not our little gems. And so says my logic, which sometimes prevails over fear and lets me sleep. I hope that it sometimes prevails for you, too. But while you lay awake worrying know that you are not alone. Kiss that precious little lovie for us down here in DC. xoxo -raa

  3. So glad that one of the (dwarfism) experts I keep hearing so much about thinks that Addie is doing great! Part of me often wants to get ourselves into someone who has a little more expertise than we’ve come across so far. But I know I just have to remember that he too is doing ‘great’ and so far we have nothing to be too concerned about. You’ve got another mama over here that does not sleep very good at all. Ugh.

  4. Hi there!

    My name is Mitch Donaberger, and I am the social media manager at Saladworks. I couldn’t help but notice this blog post because it mentioned Saladworks – I am captivated by your story so far, and feel such a strong love for your strength for young Addie.

    I’d love to treat you and yours to a free meal at Saladworks, as a token of saying “you rule, keep going.” Please contact me at mdonaberger{{{at}}}saladworks{{{dot}}}com, and I will get you hooked up as soon as I humanly can.

    And yes, I am very serious about this!

    :-)

    -mitch

  5. Janine

    Congratulations on your precious daughter! Welcome to the LP community and thank you for your blog. We have a 2-1/2 yr old son who has achondroplasia and he visits with the same doctors. Your daughter is in excellent care!

    All the best,
    Janine

  6. Hi! I’m a momma of a little person as well. He hasa different type but has some of the same issues as your Addie. Kyphosis and stenosis (both mild). He also couldn’t straighten his arms all the way at her age, but with physical therapy once a week and work at home, he is able to have full range of motion now. He is 2! I would highly recommend finding a pediatric physical therapist that you love. Ours was a God-send! He also was born with clubfeet and needed some gross motor help but she has worked with him on so much! I have a blog as well where I’ve written more about him. We also have some friends that have a little boy with achondroplasia. Its so great you get to see the drs in Delaware, we are hoping to get there too! Addie is adorable!

  7. Marne Roche

    My daughter, Katie, is now 35 and a kindergarten teacher in Pa. I can remember going through all those things when she was born. My father was a doctor and had delivered a little person 13 years beforeKatie was born. I remember him saying to me that she would do everything the other kids did, it would just take her a little longer. And that was true.

  8. Pingback: It feels like coming home… | A is for Adelaide and...

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