Tag Archives: hydrocephalus

Every Six Months…

We made it to Delaware… with minimal traffic- which always makes me happy! Being in the company of doctors who are so confident and can answer questions that I forgot I had, or that I never even thought of always calms my mind.

When we got into the room with Dr. Bober, we sat down and Addie started playing. We talked a lot about where she was developmentally, her walking, her sleep- the usual. We then talked about her ears- which are at the top of my worry list. With her tubes coming out and her infection, we came to the conclusion that she will, most likely, end of with another set. Also, interestingly enough, we discussed the idea that her adenoids could also come out. Our ENT, locally in Rhode Island, spoke about a 50% chance that if we remove the adenoids with another set of tubes that a recurrence of tubes would be unnecessary. Dr. Bober assured me that this number is not reflective of children with achondroplasia.

A new lesson in life.

So… we will check her ears in a few weeks, see if there is fluid in there, and then take it from there. Should fluid still be in there, we will check for swollen adenoids. Fluid, tubes. Fluid and swollen adenoids, tubes and adenoids. Plan of action- simple! Of course there are a million steps in between, but to have a start and an end point makes the middle ground a bit easier to navigate.

So we are moving out of the worry of hydrocephalus, as her soft spot is closed and she has no signs, as well as the concern for central apnea (which seemed to disappear after 6 months) and kyphosis because Miss A is up and walking… and her x-rays looked amazing! Hearing that her spine looks great is nothing short of wonderful news!

And what are we looking at now? The bowing in her legs, which is something Dr. Mackenzie really keeps an eye on. Obstructive apnea and being aware of the signs, such as snoring and bad sleep patterns. And we also have to be more conscious of ear infections, especially because Addie’s tubes fell out already… but we already talked about that! :)

Some interesting facts for expecting mamas:
We have a 2-3% chance of having another child with achondroplasia.
A Level 2 ultrasound after 30 weeks will give us answers if there are size concerns.
We could still have a child with dwarfism without knowing (just like with Addie!).
Bonus?
We aren’t concerned. Knowing what we know now, we are thrilled to be welcoming another baby into our family!

… and then Dr. Mackenzie. After we ended up doing acrobatic acts on the floor:

#aisforadelaide #babyyoga

#aisforadelaide #yoga #downwardfacingdog

Colleen and Mac came in to examine my sweet yoga girl. After a few looks at her, we took to the halls of DuPont for some walking action. Make that running! Knowing that she’s been falling sideways a lot, I was worried about her legs and knees… but thankfully her legs are just the way they are (for now). We are having x-rays done to make sure her legs are going in the right direction and, as usual, monitor if she has any pain or increased falling.  Addie does have the typical hyper-extension in her knees, but she also has hyper-mobility that causes her knees to arc sideways, which could be adding to her falls (but not bad per se).

As expected, we will be going back in 6 months (really 7) for her next set of appointments and are excited for what lies ahead. The best part of going to DuPont are the answers, the new knowledge and knowing that the next time we see these specialists we will have a whole new world opened to us. Given that we see the doctors every 6 months we are never given too much information that we worry for months to come, but we always leave with things to think about.

… we hope we can work with our insurance going forward and are looking to generate more information about United’s vendetta against major medical providers and bringing them back to Nemours! (Hello high hopes!)

Until then, We hope you had a wonderful Sibling Day… Addie loved giving her soon-to-be baby sibling a kiss while we were on a beautiful family walk:

#aisforadelaide #siblingday2014

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Marvelous Monday

So… it’s been a whole week. And a lot has happened.

I know it’s rare, but I’ve deviated from my standard MM layout before, and will again. So here we go: this Monday I want to share our Delaware trip with you.

On Thursday, we went to A.I. DuPont Hospital to see Addie’s specialists, doctors Michael Bober (genetics) and William Mackenzie (orthopedics), to hear what we already know: she’s doing great!

But that’s not all we heard, of course. Even as we entered the hospital, it feels like family. Not necessarily the family that you grip with all the tensions in your body, but the family that warms your soul because you know they will make everything OK. The family we have at DuPont are the most important in medically caring for Addie’s specific needs. This was our third trip in Addie’s [almost] 18 months, and we were mainly told that we’re doing well and to just be aware of what the genetics and orthopedic teams are watching.

The best Daddy <3

The best Daddy <3

What are we on the lookout for?

  • Kyphosis- Though Addie has a very mild showing and her back xrays show no issues in the vertebrae, we will still take images every 6 months. Dr. Mackenzie is hopeful that the kyphosis will wane as she walks more. In infancy, kyphosis can appear more apparent in LP because the lack of muscle tone, especially in the abdomen, causes the child to lean forward so much. As children gain more muscle in their core, they are more likely to hold their backs straight and many times the issues resolve themselves. There are also many LP for which this is not the case- sometimes there is no kyphosis at all, and other times surgery or bracing are needed to correct the issue.
  • Lordosis- AKA swayback or saddle back. This is why you might see Addie’s little booty and belly pop out more- it’ just the way her spine pushes her. Thus far, her bones are flexible and the doctors are not concerned with her movement, but this is the way her back will be for the rest of her life. In some cases, lordosis can lead to stenosis in the spine and be the cause of great pain. Surgery can be the only solution, so it is important to maintain the health of Addie’s spine and address any issues (pain, numbing, etc.) before they become out of control.
  • Genu Varum, or bowing of the legs- Addie’s legs are bowed, but more so on the left than right. For now this doesn’t seem to be hindering her walk or causing her pain so it is nothing to address yet. In time, they could straighten, or get worse, or stay the same. The bowing could be in her ankles, knees or the tibia itself growing longer than the fibula (which is the common cause of bowing). For now, we just watch her legs… and enjoy all the journeys they take her on!
  • Weight- Addie is in the median on her height and weight (spot on!). Weight is something that her doctors will monitor more closely at age 2, but Dr. Bober was happy with her progression- assuring me that keeping a good diet and weight is easier to maintain than to have to achieve. Because I preach this to EVERYONE anyway, I gave myself a pat on the back. According to the chart that measures the height/weight ratio (not age to weight or age to height), at 72cm a female with achondroplasia should weigh 10kg. At 71.7cm, Miss Addie weighs in at 9.9kg. Can’t get better than that!
  • Sleep apnea- Still on the radar, we will monitor her sleep in both pattern and sound. With teething, pattern has become slightly less predictable, though still great… but snoring can be an issue. Thankfully her snores do change with position and often stop if she is one way versus another. This is a good thing! Who knew? We will have a repeat study in early Spring to have one last go, but hopefully her issues will be so few that we can stop the yearly study all together… FINGERS CROSSED!
  • Hydrocephalus- Lastly, we are almost out of the woods. At age 2 weight becomes a new focus- one that is lifelong- but hydrocephalus, or water on the brain, becomes much less predominant of a concern. While height and weight are in the middle, Addie’s head circumference is -1SD, which is negative one standard deviation, on her growth chart. At 50.4cm, her head is growing at a steady rate just below the average head circumference for a female with achondroplasia. Hearing stories of Addie’s social development and seeing her cognitive skills in the office, Dr. Bober told us that she is mostly out of the woods. He, again, gave us the list of things to look out for: headaches, vomiting, confusion, bulging fontanelle… and thankfully, I checked them all off in my head as never seeing signs of these issues.

It’s a plentiful list, for sure, but nothing that we can’t handle. Again, we will make the trek to Delaware in 6 months to recheck the spine, head growth and discuss sleep. We will all watch Addie walk the halls and smile every time she turns her head with a smile- making the game of “watch me walk” into a “run and hide” segment.

Sometimes waiting is hard... except when mommy makes nitrile balloon gloves and daddy gives tickles!

Sometimes waiting is hard… except when mommy makes nitrile balloon gloves and daddy gives tickles!

Every time we leave the small state, I feel a relief. My heart slows, my hands stop moving and the pins and needles in my body calm. I frantically search over every note I took and always land upon a similar set of words: She’s doing great- we are just watching for now.

For now seems to be a threat. Not one of imminent danger, but a reminder that things could change. Not to fear a change, but to be prepared for it. With the medical team we have watching over our sweet girl, there is no way that we will not be prepared and receive the best treatment possible. Thank you to DuPont Hospital and the amazing team in the skeletal dysplasia clinic!

In between appointments we had a photoshoot!

In between appointments we had a photoshoot!

 

Clearly I’m thankful for our doctors and that was A LOT of information about dwarfism, but what was so random this week? After spending a weekend with my nephew (and sister), I realize what the best lifetimes are made of. We are 1,415.9 miles apart, but after having (too few) days with him, I  know that the quality of time I got- the laughs, tickles and a few punches (him, not me) were more important than getting pictures…  which are easier to attain from a ham like Addie, versus my wily nephew! But, I have the memories. They are keeping me warm in this crazy New England weather now. Holding him up on my feet, wrapping him up in my arms and tossing him on the couch in fits of giggles- those are the memories. I anticipate my new nephew’s arrival- his sweet coos and gentle hands- things that will be replaced by his big brother’s teachings. Things that will make me laugh- forward rolls with gusto, building blocks from one corner to the next, and tackles that put NFL defenders to shame… these are a few of a boy’s favorite things, while pictures with his aunt are not. Spending the weekend in suburban Philadelphia with all of my siblings in one place (which never happens anymore) was so special to me. I hope that next time I get to see my brother-in-law, too!… who will soon be a dad to “Maverick”, little brother to my camera shy nephew, Mark.

Giving a bouquet of balloons to Daddy <3

Giving a bouquet of balloons to Daddy <3

The weekend in brief...

The weekend in brief…

From the Sprinkle for Jess

From the Sprinkle for Jess… Mark is THRILLED to have his picture taken with me!

Airplanes for the soon-to-be little man!

Airplanes for the soon-to-be little man!

What a beautiful weekend to carry me into the week. Happy Monday, Reader.

Love,

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Filed under Achondroplasia, Educate/Adovocate/Make Change, Marvelous Monday

Time Marches On

… or crawls or walks. At 8 1/2 months, we don’t really sit up yet. While Christmas is in the air, I’m becoming more aware of the gross motor skill differences between Addie and other children her age. In some ways, I consider myself lucky to have a baby who doesn’t move much, yet. I don’t have to chase her around- she stays on her play mat and happily rolls from one toy to the next, but other times I feel sad. I want to wear her on my body. I want to have her sit up and look at me. I don’t want to worry every time she bumps her head that there will be some severe injury. I don’t want to feel the kyphosis in her spine. All good things in time… Sometimes, time takes a long while to come.

It’s Christmas Eve, and as people are tucked away in their beds, I am feeling Addie’s soft spot to check for a buldge. Like I do every night. I wait until she is asleep, then gently feel her head to make sure that there are no signs of hydrocephalus. Then I let her sleep. Just as Santa is making his way down our chimney, I will wake up to make sure Addie’s snoring isn’t getting worse. When the milk has been finished and the cookies all gone, and the big man is on his way to the next house, I will lay back down to pretend to sleep ’til dawn.

I love Christmas, but maybe my love for the season is rivaled with hate for it, in equal parts. I miss my Dad. I hate that we barely put up lights to save on an electric bill we already can’t afford. I wish my whole family could be together and not spread out down the east coast. And I wish I knew what the future held for Addie. There are a million things that can go wrong in life, I just want one wish for Addie’s first Christmas: A lifetime of happiness for my baby girl.

I remember last year at this time:

Christmas 2011

We were in Florida and I could not wait for Addie to arrive. My handsome nephew, Mark, had been born almost a month prior, and I could not stop snuggling on his little self. I couldn’t even dream of a human so small and fragile. But then, my Addie came.

Florida 2011

Brand new Addie

This face is wise and curious:

Addie

She is, as far as I can tell, the reason I am here in this world. But sometimes, I wonder if I am good enough for her. Am I willing to wait for all the good things? Will I show her the right path to take, but let her choose her way? I want so badly to live in the now, but it’s so hard when the past is always nipping at your heels.

My dear baby girl. You are the comfort and joy, the wondrous night, what makes me laugh all the way home where you snuggle into me and keep me warm, you’re my good cheer and you help me live in Heavenly peace. You are my miracle. Christmas, or not.

Happy holidays to all who celebrate. May we never know what God intended for our lives, just that He intended them for us.

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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.

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Pardon my French but: &odd%$n you, Teen Mom 2

When a headline begins with Teen Mom Leah gets more bad news about baby Ali, I feared the worst. Let’s be honest, it’s trash TV, but I cannot help my freakish addiction to these sad teenagers who can’t seem to get their stuff together. I am no Mother Theresa, but seriously ladies, what the heck is going on in your heads? And why, Netflix, did you decide to have this in your instant queue option?!

Watching episode after episode of Leah wondering why Ali is not keeping up with her sister breaks my heart. Her emotions seem tangible and I can taste her tears as my own. But reading these words below, makes me feel sad. Sad for me. I knew Addie had rapid head growth- I feared hydrocephalus. At one point, at Hasboro, I said to my husband: “It doesn’t matter what the doctors say, I’ve already diagnosed her as a hydrocephalic dwarf. So I’m  prepared.” And I was. I embraced the news that she is not hydrocephalic like a champ, and I will forever be attempting to navigate life for her as an achondroplastic. I love my baby girl, and I will never let her suffer.
From the internet:

Enough with the mixed messages! First we have Corey contrasting a camouflage cap with a neon T-shirt, then Leah’s geneticist is trying to scare all our happy away. Just last week we were celebrating baby Ali’s “normal” test results and first time standing; tonight Leah was told her young daughter might actually suffer from skeletal dysplasia — or dwarfism. Whatever her condition turns out to be (and recent pictures show a very stark contrast between Ali and her twin sister’s development), we know their coal-mining fairy tale does not come true.

Can we start with the word suffer? Addie won’t ever dunk a basketball in the WNBA, but I hardly think that she’s going to, or is, suffering from achondroplasia. It’s a diagnosis. An explanation as to why she is so “wee”, but she is amazing. She is beautiful. She is Adelaide Eileen. My child is a dwarf, but she does not suffer. In fact, she thrives- AND, she lives to tell George all about it!

There are a ton of issues with the multiple brief accounts of “Leah and Ali”, but my main “beef” lies with the suffering, sadness, fear, and delayed commentary. Addie is not suffering, and neither are Dave nor myself. We have no sadness, and no fear. We are aware of some of the challenges she may face, but we do not fear them. And as far as delays go, Addie is on track with the AH (average height) children, so we have no worries there. But, should she fall behind, there is a chart specifically for HER!

This is my PSA: being a dwarf does not mean you suffer. There can be many scary situations ahead for Addie, but there are an infinite number of possibilities for all of the amazing experiences that lay ahead for her, too! Good luck to baby Ali- may you be little or may you be big, you don’t have to suffer for anything.

EDUCATE YOURSELVES!

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I Knew Before You Told Me

From the moment she was born, I knew she was different. Adelaide Eileen was born at only 18 inches, with my button nose and crooked pinkies. What she was born without was what caught my eye.

27 years ago I came flying into this world with a shock of dark hair, flailing all 21 inches of my body in a fury weighing just shy of 5 1/2 pounds.  During the 3 hours I pushed with Addie, I remember seeing her dark hair, feeling her head and then seeing her little body.  She looked just like me, but, to be honest, squat. I held my little ball of baby, loving all over her and sharing with no one.

I wanted to ask the doctors a million questions- I was shocked the next day when her pediatrician measured her at 18 inches.
I knew before I asked.  I knew she was my genetic miracle. Our little package of jumbled up genes that was perfectly delivered to us.

A daughter holds her mother’s hand for a while and her heart forever.

I was so tired, but I couldn’t stop staring. She was the most beautiful human I’d ever seen.
Watching her grow, or not, led me to think something was up- but you only think to ask the doctors a question if you think there is something wrong. In my heart of hearts I knew there was nothing wrong, just different about my little Addie. Then I read all about it. Her head was big. I was so scared. Could she have hydrocephalus? I researched all I could. I took Addie to her 2 month appointment and mentioned it to the nurse doing her measurements. She inferred that it was something she was going to mention anyway, due to her head circumference growing, and my heart sank.  I wanted to hear “don’t worry about it.” But, as you know from my first post, we ended up leaving that appointment with a script for a ultrasound of her head and x-rays of her long bones.

I took her home, undressed her and examined every inch. I saw her inner thighs and how small her hands were. The non-existent bridge of her nose. The way her legs bowed out. I saw her face, with those shining, deep violet eyes staring up at me. And she’s perfect.

After her diagnosis, Dave and I told a few people. Looking for initial reactions- a way to gauge our responses to people and learn what kind of reactions we would be fielding. And, as if getting unexpected news wasn’t confusing enough, the other shoe dropped.
People said they were sorry. Dave and I found ourselves trying to stop people from saying the wrong thing. Did we tell the wrong close friends? Was it something we said?

Nothing is wrong with her. Why are you sorry? We’re not.
It’s not unfortunate. We’re beyond fortunate to have  be chosen by this baby girl.

I knew she was the most beautiful girl from the moment she was born. She is loved to the core- and being so small, that’s a lot of love per inch!

I knew before they told me. I knew she was going to be the best thing to ever happen to me. I knew it. And I love every little bit.

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‘A’ is for Adelaide and Achondroplasia

I’m not sure where to begin. I could go back to camping.  That amazing 2-days my husband, Dave and I spent in Maine, creating our beautiful daughter.  It wasn’t really romantic, but it got our minds off of the previous 6-week troublesome time, which began with an early pregnancy miscarriage- often referred to as a chemical pregnancy.  In the weeks following, when the cramping eased, and the doctor reminded me that we could try again right away, we knew we needed a weekend away.  With our handsome puppy at doggie daycare, we took off to Wells, Maine.

It was a beautiful weekend.  And we made Addie.

A few weeks after we got back, I got a faint line and after watching the timer flash for 3 minutes “PREGNANT” popped up on the digital screen.  Excited, but scared to repeat the past, I tried to hide my findings from my husband; but, a few hours after he went to work, I texted a picture of the test to him.

***

Hearing her heartbeat was the most beautiful music ever created.  Rapid and deep, hearing her life beginning in me was one of the best days of my life, and over the following months, I took the tests, ate well, gaining only 26 pounds, and was then blessed with a beautiful, but long, delivery at 38 weeks, 5 days.

A clear-lunged Adelaide Eileen came into the world April 17, 2012 at 10:32am at 7 pounds, 7 ounces and 18 inches long.

18 inches is in the 5th percentile for height in a newborn.

At Addie’s one month check up, her head was in the 75th percentile, weight 10-25th percentile and height still in the 5th.

At two months, her head was in the 90th percentile, weight 25th percentile, and her height had dropped below 5th.

I cried.

We left the doctors’ office with an appointment for a fontanelle ultrasound to check for Hydrocephalus and another for x-rays of her long bones.  At 5’7 and my husband standing 5’9, I was unsure how we had such a short baby, but her head was our main concern.  Along with the appointment at the radiologist’s office, Addie left the office with thighs sore with vaccine shots.  Later that night, June 19, 2012,  a fever of 101.5 struck, and was just the beginning.

***

At 7pm, June 21st, we arrived at Hasbro Children’s Hospital in Providence, RI. Addie presented with a mild-grade fever, lethargy and a lack of appetite. She endured hours of IVs, needle pricks, blood draws, a CT scan and four, yes four, unsuccessful attempts at a lumbar puncture.  Without the spinal cord fluid needed to run a meningitis test, Addie was started on broad spectrum antibiotics for the night.

A tentatively negative read was done of her CT, for everything, including Hydrocephalus- a concern due to the rapid growth of her head. Although this brought relief, there was another test we knew needed to be done for her general heath (an x-ray of her long bones), and there was the issue of what was making her ill at the present moment.

***

A call from our pediatrician to the attending physician in the hospital prompted the bones of her body to be x-rayed, specifically the long bones in her arms (upper) and legs (thigh), pelvis, spine and skull, which took all of 10 minutes and we were wheeled back to our room.

A geneticist came to do some measurements. I felt hot and sick. There were tears forming, but, as a mother, I had known Addie was too short for her age. We discussed nothing specific, only mentioning that there could be a genetic anomaly, and that’s why she was called in to look at the x-rays. As the doctor left the room to read the x-rays herself, I held my knees to my chest and practiced breathing.

When she returned, I was cleaning out my breast pump pieces in scalding water. She pulled a chair up to talk. I stayed at the sink, burning my hands in the water. When she didn’t continue her diatribe, I knew the x-rays had shown something. I finished washing the bottles and made small talk. If I never heard what she had to say then she had never said anything. Right?

“After reviewing the x-rays with the best radiologist in Rhode Island, we have both confirmed the diagnosis of Achondroplasia,” Doctor.
“What’s that mean?” Dave.
“Dwarfism,” I said. Blankly staring at something that wasn’t there.

Achondroplasia 

There’s been a lot of discussion over the years about the proper way to refer to someone with dwarfism. Many people who have the condition prefer the term “little person” or “person of short stature.” For some, “dwarf” is acceptable. For most, “midget” definitely is not.
But here’s an idea everyone can agree on: Why not simply call a person with dwarfism by his or her name?
Being of short stature is only one of the characteristics that make a little person who he or she is. If you’re the parent or loved one of a little person, you know this to be true.
But here are some facts that other people may not realize about dwarfism and those who have it.

Dwarfism:

  • is characterized by short stature. Technically, that means an adult height of 4 feet 10 inches or under, according to the advocacy group Little People of America (LPA).
  • can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia.
  • can and most often does occur in families where both parents are of average height. In fact, 4 out of 5 of children with achondroplasia are born to average-size parents.

Dwarfism isn’t:

  • an intellectual disability. A person who has dwarfism is typically of normal intelligence.
  • a disease that requires a “cure.” Most people with one of these conditions live long, fulfilling lives.
  • a reason to assume someone is incapable. Little people go to school, go to work, marry, and raise children, just like their average-size peers.

What Causes Short Stature?

  • More than 300 well-described conditions are known to cause short stature in a child. Most are caused by a spontaneous genetic change (mutation) in the egg or sperm cells prior to conception. Others are caused by genetic changes inherited from one or both parents.
  • Similarly, depending on the type of condition causing the short stature, it is possible for two average-size parents to have a child with short stature, and is also possible for parents who are little people to have an average-size child.
  • What prompts a gene to mutate is not yet clearly understood. The change is seemingly random and unpreventable, and can occur in any pregnancy. If parents have some form of dwarfism themselves, the odds are much greater that their children will also be little people. A genetic counselor can help determine the likelihood of passing on the condition in these cases.
  • Dwarfism has other causes, including metabolic or hormonal disorders in infancy or childhood. Chromosomal abnormalities, pituitary gland disorders (which influence growth and metabolism), absorptive problems (when the body can’t absorb nutrients adequately), and kidney disease can all lead to short stature if a child fails to grow at a normal rate.

By far, the most common skeletal dysplasia is achondroplasia, a short-limb dysplasia that occurs in about 1 of every 15,000 to 40,000 babies born of all races and ethnicities. It can be caused by a spontaneous mutation in a gene called FGFR3, or a child can inherit a change in this gene from a parent who also has achondroplasia.

People with achondroplasia have a relatively long trunk and shortened upper parts of their arms and legs. They may share other features as well, such as a larger head with a prominent forehead, a flattened bridge of the nose, shortened hands and fingers, and reduced muscle tone. The average adult height for someone with achondroplasia is a little over 4 feet.

Diagnosis

Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. But most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child’s appearance, failure to grow, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth.
Once a diagnosis is made, there is no “treatment” for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to spark a child’s growth, but skeletal dysplasias cannot be “cured.”
People with these types of dwarfism can, however, get medical care for some of the health complications associated with their short stature.
Some forms of dwarfism also involve issues in other body systems — such as vision or hearing — and require careful monitoring.

Possible Complications and Treatments

Short stature is the one quality all people with dwarfism have in common. After that, each of the many conditions that cause dwarfism has its own set of characteristics and possible complications.
Fortunately, many of these complications are treatable, so that people of short stature can lead healthy, active lives.
For example, a small percentage of babies with achondroplasia may experience hydrocephalus (excess fluid around the brain). They may also have a greater risk of developing apnea — a temporary stop in breathing during sleep — because of abnormally small or misshapen anatomy or, more likely, because of airway obstruction by the adenoids or the tonsils. Occasionally, a part of the brain or spinal cord is compressed. With close monitoring by doctors, however, these potentially serious problems can be detected early and surgically corrected.

As a child with dwarfism grows, other issues may also become apparent, including:

  • delayed development of some motor skills, such as sitting up and walking
  • a greater susceptibility to ear infections and hearing loss
  • breathing problems caused by small chests
  • weight problems
  • curvature of the spine (scoliosis, kyphosis, and/or lordosis)
  • bowed legs
  • trouble with joint flexibility and early arthritis
  • lower back pain or leg numbness
  • crowding of teeth in the jaw

Proper medical care can alleviate many of these problems. For example, surgery often can bring relief from the pain of joints that wear out under the stress of bearing weight differently with limited flexibility.
Surgery also can be used to improve some of the leg, hip, and spine problems people with short stature sometimes face.
Nonsurgical options may help, too — for instance, excessive weight can worsen many orthopedic problems, so a nutritionist might help develop a healthy plan for shedding extra pounds. And doctors or physical therapists can recommend ways to increase physical activity without putting extra stress on the bones and joints.

 

The information runs far and is quite plentiful.  In the United States, approximately 10,000 individuals are estimated to have achondroplasia. Achondroplasia affects about 1 in every 40,000 children. However, this number varies, depending on the source. Eighty percent of all little people have achondroplasia. Approximately 150,000 persons have achondroplasia worldwide. The worldwide population of little people is approximately 190,000.

And there, my dear readers, are the facts.

Please don’t say you’re sorry. Nothing to be sorry about. She is beautiful and we are blessed. She’s a bit small for her age. That’s all.  Mention of a TLC tv show hardly seems appropriate, after all, is social media the best judgment or indicator for life’s actuality? Asking if there is anything you can do doesn’t make much sense either, as she is a normal little girl in every way but height.

People don’t know what to say- I’ve already encountered that. But if I may be so bold as to make a suggestion, if you don’t know what to say, say nothing.

Adelaide Eileen. The prettiest girl in the whole wide world. <3

But with all this talk, I can’t say that I’m not scared, or angry, or confused, or hurt. I can say I’m so happy, blessed and in love. Little people live normal life expectancies and can do anything they want.  It’s not a disease. She does not need to be cured.

She cannot ever do gymnastics.  If I said this didn’t hurt me, I would be a liar.  I was a gymnast, and some of my fondest memories are swinging my long and lean body around the bars, sleep over camp and long drives to state meets. She cannot participate in other little girls’ gymnastics parties. But, she can swim- and I’m looking forward to mommy & me swim lessons like it’s Christmas day!

And here I am. I’m angry.  I’m really angry. I’m so ashamed of myself for, potentially, making life harder for her.  I am, in my mind, at fault. I want to help her be the strong girl I know she is, but how can I do that when I’m falling apart on the inside? I’m angry this will impact her. I’m angry other children won’t get it. I’m angry that people in her family, at least not everyone, will understand and respect and be “ok” with her stature. I’m angry people may point, laugh, call her names, misunderstand her, and hurt her. I’m angry, damn it. I really am.  Perhaps some of my fears are masked by this anger, which I’ve always been so quick to feel, but for now I’ll call it a pure emotion and hope it unfolds well.

As I watch her sleep in her hospital bed (crib), she looks like the most beautiful girl I’ve ever seen. She has my little nose and crooked pinkies, and Dave’s ears and lips.  She is an angel. She’s a perfect combination of the man I will love forever and myself. Maybe she’s not your ideal baby- but she’s certainly my ideal: happy, healthy, with dimples, bright blue eyes, 10 fingers and toes, sweet baby coos, and a sigh that ends with her collapsing on my chest.

In truth, as I write, she is getting better from whatever brought us here in the first place; No fever, less lethargic and eating much better. But she is still here. I am battling with her being sick and getting a lifelong diagnosis that I’m not sure the right way to process.  I am dealing with the good news of no hydrocephalus and the shock of knowing my daughter will be physically different from other children. I am scared of my reaction to other parents, when they tell me of milestones their children are crossing, as Addie’s motor skills may be slightly behind because she cannot learn to sit by propping. I am wondering what life will bring to her and how I can make sure she has the best one possible- as any parent does for their child.

Over the past few days I have tried to take all the information thrown our way in stride, and remember that some questions will remain unanswered until she reaches a certain age and the universe reveals its mysterious ways.  I’ve contemplated if I had known she would be a little person before she was born, would I feel differently… no.  I wish I had had the time before she was born to process, as it is hard to shed tears when I’m looking at her beautiful face; but I will let my emotions take their course, rely on the love Dave and I share and the information at hand to be the best parents we can be.

And so, I conclude.

‘A’ is for Adelaide and Achondroplasia.

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