Tag Archives: achon

Marvelous Monday

And just like that: Monday!

We had a whirlwind week (ummm… it seems like this is a real pattern here), and now that we’re finally home, in our little abode, it is all hitting me. My phone is buzzing and vibrating with photo tags, well wishes, comments, and a list- a list of gifts, cards, beautiful  messages lining cards all meant for Addie. In just 2 years my sweet angel has so many who love her, who celebrate her. For all the people who could be there and all those who wanted to be, I am thankful. How can one little girl have  such love surrounding her? As I type away, I am watching her sleep, and even with her eyes closed and her chest rising and falling, with her gentle snore… there is still the hint of her smile. Her happiness and her personality are always shining through- and this is why people are there. She’s a magnet to love. Our love. Your love. Thank you for celebrating our (almost) two year old with us!

#aisforadelaide #happybirthday #AddieisTwo

*  *  *

I forgot to update everyone on Addie’s growth (which we truly only chart from her specialists) in the last post about Delaware, so I wanted to share her stats here:
23 Months:
24.25 pounds
29 inches long
20.3 inch head circumference

As I plotted her newest numbers with the doctors on the most important CHART according to her doctors (weight for height), we came up with Addie being at -1 SD for her head, which really put to rest the concern for hydrocephalus because her head is slowing on its growth  pattern. For height, she’s at +1 SD, so she’s right above the mean, and for weight she’s right in the middle. When you see the numbers on a growth chart, her own growth chart, it’s pretty cool! Dwarfism is an umbrella diagnosis with many forms defining it, and I feel very fortunate to have so much research about Addie’s form to help guide us through her possible medical needs.

*  *  *

Lastly, some random to start your week off… Heather, a fellow blogger and advocate, contacted me regarding a cause close to her heart. As I read her story and web page, I felt the need to share the information with you. As a child, I remember my school spending a lot of money to renovate during Spring Break one year. When we came back, there was some discussion about asbestos and that’s what they were doing… as a kid, I had no idea what that meant, but loved that our tiny school had gone through a face lift. Reading Heather’s story brings me such peace- knowing that I was not exposed to something so terrible as so many are. Please read and share her story…

At age 36, I was diagnosed with mesothelioma just 3 ½ months after my first and only child, Lily, was born. I was given just 15 months to live unless I underwent a drastic surgery to remove my left lung. Miraculously, I beat the odds and I’m still here eight years later.

Asbestos is not banned in the US, yet it’s the only known cause of mesothelioma. I was exposed to asbestos through my fathers work jacket when I was just a little girl; my diagnosis came about 30 years later. Once diagnosed, most patients die within 2 years. I am one of few survivors who openly share their story and work to spread awareness regarding the dangers of asbestos.

In honor of Asbestos Awareness Week (April 1-7), I created a webpage dedicated to raising awareness. Although this week has passed, I would love to help educate and protect your readers from this preventable disease!

Here’s the link to my awareness page: mesothelioma.com/heather/awareness

#themoreyouknow

Have a beautiful week, Reader!

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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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Adelaide has achondroplasia

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 waited almost 39 weeks to hold.

As the weeks passed, I noticed she didn’t look like the other babies in my new moms 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 measure. 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 our local children’s hospital. An emergency CT of her head was performed to make sure there was no abnormal fluid in her head- this called 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.

Photo: Dimery Photography

Photo: Dimery Photography

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.

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Marvelous Monday

Another week has passed and another is beginning. And I am thankful for that. Many of my friends have been going through first losses in life- mostly grandparents- and have emailed me asking for advice… how to move on, get over it, stop crying. I know they ask because I lost my brother, grandfather, 18 year old cousin, father, uncle and multiple friends before the age of 21… my grandmother passed away a few hours before I needed to be in work. I still went. I sold 2 gowns before my boss asked me what was up. When I told her, she began to tear up and told me to go home. Dave and I have a cruel joke: I met his family through weddings. He met mine through funerals. When it comes to funerals, I’m an old pro at 29… and as the years have passed, my coping skills have changed, though not the steps to heal.

What are my steps?

1. Let it happen.
The  tears, the anger, the hurt, the pain, the laughter that makes you guilty to have, the fear of all the memories you think are fading, the idea that you can’t remember  certain facial features or their voice. Just let it happen.

This Monday just being thankful is enough. Telling people to enjoy every moment of their lives is disingenuous. There are things that are not enjoyable- that is life. However, reminding ourselves after a long day, a particularly trying day, that we are still here, to heal the hurts we may have made and mend the fences that we can, is all we can do. It never gets easier when we lose the ones we love, but it grows different in us. The things we thought we forgot? They come back. After 15 years, I suddenly started to hear my Dad’s voice in my dreams again. It’s not as deep as I thought it was, but there it is- clear as a bell- lulling me back into a dream I might otherwise have  awoken from.

Here’s to another week. Live. Love. Laugh. And, damn it, cry if you need to!

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This week, my brief, but important dwarfism fact is more of a life lesson to all. Be conscious of your words. When approaching a difference, so not assume that everyone who is different is suffering. Very few people I know choose to describe their everyday as suffering. I embrace the fact that dwarfism is considered a disability. I do not fear what is fact- I choose to learn how we can improve and change our society to better include everyone- regardless of differences. What I choose to change also includes perception. My daughter smiles… All. The. Time. Even when we were told her right ear was pretty infected on Saturday, she was all smiles. In general, she is a tough cookie, but like most kids she lives a happy life. It is… well, it’s normal. How so? She’s never known anything different- and that, by definition of the word and subjective experience. The welts that make other parents cringe, the therapies, the extra appointments- that’s life. That’s not suffering. Suffering should be held sacred for the hardest moments in life- those that truly make us question the world. Suffering is not being different.

Please, choose your words wisely.

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And last but not least, my random for the week. Again, words. My friend, we will call him C, works a fairly stressful job. It’s all people-relations and working with clients. Pleasing those that have too much money to spend, or too little and spend too much- a fine line between fun and babysitting for adults. He’s also a homeowner, small business owner and landlord. In short, he’s no fool. At his place of business, however, he’s often disrespected- even by well meaning customers who feel like they’ve made some kind of quick friendship and thus make an innapropriate remark or joke.

On one such occasion this weekend someone told him he needed to grow a thicker skin. He’s a funny guy, blue eyes, Italian, well-educated, a little over 6 feet with a good sense of humor and healthy respect for himself and others… but to this comment he replied that his skin was thick enough, perhaps he simply deserved some respect. While you think your words are innocent and that you’re in the right, remember his thought.

Happy Monday, Reader! May your week be full of thanks, love and respect.

love,

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The Sum of all its Parts, LPA DC National

I’ve found myself delaying about writing more about the LPA National Conference in DC, because when you’re in a workshop and taking notes, it is hard to put what you’ve written into paragraphs without paraphrasing (perhaps incorrectly) what was said. Because of this, I took my notes from a few different workshops and edited them for you in the same note-style! I would love to answer questions in a forum-style in the comments section and I am very excited for this post to educate both you and me! I would love to know if you have anything to add, as well as find the answer to any questions you may have that I cannot answer. Thank you for being patient with me as I sort through the wealth of information I heard and experienced the DC Conference. I hope to meet more friends and family in California this summer!

#LPAdc2013 Lpa National Conference notes #aisforadelaide Know Your Rights #hypo #achon

#LPAdc2013 LPA National #Aisforadelaide #bowing #achondroplasia #surgery

#LPAdc2013 LPA National Conference #surgery notes #Achondroplasia #aisforadelaide #spine

Questions, comments, other ideas, thoughts, educational/life experience! Share, please!!!!

 

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Filed under Achondroplasia, Educate/Adovocate/Make Change

Marvelous Monday

Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday Monday… Just wanted to reiterate… it’s Monday.

With that news… what are YOU thankful for? Me? I’m thankful for this:

auntie and addie

I have a best friend that rivals blood. She is my sister. She never asks me why or why not. She never asks me if or how. She never asks. She is just there. She is there when I am happy, when I am sad, when I have no idea what I am. She is there. This is a beautiful call-out to Ashley, for always being there when I least expect that I need it. I am thankful for you… and Addie is, too.

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My dwarfism information is super cool: YOU CAN BABY WEAR. Well… with precaution. And not everyone. And that can really hurt.

When I learned that I could not wear Addie anymore, I broke down. I hated knowing that I could not have her strapped to me at all times. I loved the idea of baby wearing and I needed her with me. Because of this, I carried her, applying pressure to her lower back and pushing in the trademark kyphosis. Addie… with the will of the strong Worth women before her… keeps her back unyielding-ly straight:

straightbackThen she got stronger. And with her sitting on her own, we used the Bjorn. And it was amazing.:

See, for us parents who are told “no”… we look for the exception. We look for the “yes”. Here it is!

babywearingone]

We also use the Ergo baby carrier on the back, rarely. This carrier offers no spinal support, but Addie keeps her back strangely straight, and the carrier offers a better hip placement than any other on the market. We use this when front carrying is dangerous (i.e. cooking) and Addie is NEEDING to get up (which is rare).

ergoI want to say this: your decision and what you do with your child should be a collaboration between you and your doctor. Our geneticist says one thing, sometimes I feel another. We talk. It is our responsibility as parents to find the best treatments and answers to our questions and then go from there. Us? We love A.I. DuPont and will be seeing Doctors Bober and MacKenzie this week! Most of the time doctors say NO to wearing your “achon” baby, but find out if YOUR child (specifically) is strong enough for wearing- either before or after they are sitting/standing/walking on their own. Advocate for yourself!

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And my random? Just a reminder:

NDAM Groups Cover Photo

Happy Monday, Reader!!!

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Marvelous Monday

Helloooo Monday!!

I’m sure it goes without saying, but I want to shout it from the mountain tops: I am SO thankful for my kids. Kids? Yep… these two light up my life with their silly acts and best hugs and snuggles. You know Addie, but who you may not know is our first baby, Carter. He is a Catahoula rescue from Tennessee, where he was due to be euthanized at 6 weeks old! He came to us when he was 9 weeks and we’ve been in love with all 70 pounds of him since the day we saw him online. Don’t forget to tell those around you how much you love them, too… maybe the tickle monster or a Kong of peanut butter would say it best!

AddieandDaddyandglasses  mamaandcarter

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My dwarfism tidbit of the week is actually something that came up in a forum last night, though there isn’t much printed information about it… the tongue! A lot of kids with achondroplasia have tongues that stick out- eventually (for most kids) this changes, but in the toddler years, it can be seen daily. Addie doesn’t have this particular trait, but she does have focus tongue, which leads me to this: Your tongue and stomach muscles are connected! Did you know that? When you’re working out and your tongue sticks out, it’s a related reaction. In children with dwarfism there are many other reasons, including a smaller mouth, crowding, a lower palate, and most common to achon children, low muscle tone known as  hypotonia. All the ways one muscle or reaction effects another so far away (in relation to each other) is pretty cool… but can certainly be scary, especially if other children are developing differently at every turn. As long as the child is cleared by their geneticist, or specialist, there is no need to worry about the tongue sticking out!

*  *  *

And my random isn’t random at all… it’s amazing, fantastic, wonderful news. It’s a brag. I cried after watching her progress just over the weekend: Addie is walking! Not cruising or walking and falling… she’s upright! She can change directions, wobble and regain her balance, pick something up while walking, get up while holding an object and has learned to climb down off our bed (which we just lowered for that precise reason!)…

ADDIE IS WALKING!!!!!

Ok… That was my celebration. My random act from some higher power who gave Addie all the tools in life she needs to succeed: determination. THIS is the milestone chart for achondroplastic children… and my sweet lady is blowing it out of the water. I prepared myself for another year of a less mobile baby- bending over, back breaking and, to be honest, a little heart wrenching to see everyone around me watch their children run while Addie just crawled. But no. That’s not for us. Standing at least 4 inches shorter than lots of her friends, Addie is right there next to them, holding her own. Somehow we went from army crawling and holding onto walls to walking, and walking fast (!), in about 3 weeks. Congratulations to my baby girl for standing on her own and taking a few steps (8/23/13) to spending her first full day walking (9/14/13)! I don’t know how we were randomly picked out of ~40,000 to be the one family for Addie, but her sheer power of self persuasion is teaching me to reach farther, push harder and achieve my goals, because there is no reason, no piece of paper or medical study or person of any knowledge, that can tell me I can’t.

walkingbaby

Have a wonderful week, Reader!
Love,

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Just like you…

There have been an influx of questions coming to me from new parents, friends and curious people regarding Adelaide’s ability to have a family. In no uncertain terms, yes. Should Addie decide to have a family, she certainly can.

While having questions regarding a child’s body which is still in the growing stages of a toddler is unnerving to any parent, more so is the thought that people think they need to know that about Addie. I have, more than once, chomped into my tongue to hold back the words “Google it”, for a lesser aggressive, “should she choose, yes, she can have children.” I’ve even gone into detail for those who have waited for more, like perhaps there was a great folklore to spread… “Addie’s type of dwarfism is achondroplasia. In her type, for the most part, there is no issue bearing children. Her organs are the same size as an average stature person- her uterus can hold a child. Her pregnancy would go as far as about 37 weeks before she would have a scheduled c-section, and her pregnancy would be monitored perhaps a bit different from another mother, but it is completely possible should her father and I ever allow her to date.” Yes. That’s about it.

Sometimes, just sometimes, I want to snap- but I always remember that the way I present myself is a reflection of our community and how Addie will learn for herself… and curiosity is how change is made, how education is spread and how information is, at its very core, shared. So yes, Addie can have a family.

In the midst of my Summer of Questions, I happened upon a friend’s video. It was something she posted on her Facebook wall and it brought me to tears. Night after night I watched the video. Not because she’s a woman, my age, with achondroplasia who gave birth to an achon son that might one day be family (HE’S ADORABLE!), but because her husband’s loving gesture of making this video made me fill up with the same goo that Hallmark Christmas commercials incite in me. Then, as I opened another “Re: just wondering” email, I smiled. Here was my answer.

Many people ask the same questions, and while I tire of them, I have to remember the first time a question was asked, most likely I didn’t know the answer either. I am learning… learning to be a mom, a friend, a community member, an educator, an advocate. When I feel overwhelmed, or I have the thought that Addie is so different, I watch this video and remember that she isn’t. She can marry a hopeless romantic, enjoy a beautiful birth and have a lifetime of happiness, love and fulfillment whether she’s 4 feet or 6 feet. Inches and money never made someone happier than a person filled with love, support and the opportunity to create all the memories of a lifetime one could handle.

Thank you Kim and Ron for sharing your beautiful video with the world. We love Noah and cannot wait to meet!

Love,

As an aside, I want to say I have never forgotten where I was this day 12 years ago. Sitting in psych class at Upper Moreland- a TV was rolled in and we watched the second tower crumble. Thank you to all for their service that day.

 

 

 

 

 

 

 

 

 

 

 

 

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Marvelous Monday

I survived! I know there is a celebration of single motherhood, but it is not for me. I do not know how women do it alone- I need Dave. Maybe it’s not sleeping alone, or someone to help out so I can pee alone. Whatever it is. I need it. I need him. I am SO glad he is home! Ten days is far too long to be without such an amazing Daddy- Addie was THRILLED to see him! We missed this face, both with and without glasses…

(If you're ever wondering where Addie gets her eyebrows from!)

(If you’re ever wondering where Addie gets her eyebrows from!)

 

This week (and every week, really) I am thankful for my District One family.

d1family
Which brings me to my dwarfism fact of the week… As I’ve mentioned before, there are 30,000 (approximately) people in the US with dwarfism. This means that of the minorities, my friend Kate says it best: dwarfism is a rare minority.

We are in District One, which encompasses a LARGE amount of space. There are people from the tippy top of Maine all the way to Connecticut. It is hard (both to travel and afford) to go to all of the events, but when I heard we had a Southwick’s Zoo trip planned, I KNEW we needed to be there. It wasn’t until I was walking to the car, reflecting on the day, that I knew how badly I needed to be there.

Time and time again I’ve told myself different affirmations about life, parenthood, being a POLP… but when I am with the moms and dads who have walked my path before, I feel immediately drawn to them. One mom that I’ve met before feels like my sister, and a woman I’ve only ever emailed a few times listened to my life story. A family new to the community, but not to parenting made an immediate bond in my heart, and one dad (of the many awesome ones there!) showed me that to love a child with a “disability” is no different than to love one without. Parents I met last year saying the words, “Addie, you’ve gotten so big!” meant more to me than I can put into words. She HAS gotten big! …but not big. If you know what I mean. When you hear things like “her head is so big”, “she looks different”, “look how tiny” (the list goes on)- hearing how big she’s gotten, how beautiful- seeing other LP children watching a babe just like them. It was an experience I needed.

Watching children a few years older, 10 years her senior and adults with dwarfism, I truly learned the meaning of the words: Everything is going to be OK. Addie might have surgeries in her youth. We will be OK. Friends will be bigger, but there will be friends. Husbands and wives will find each other. Maybe there will be babies. Whatever happens, everything will be OK.

Addie at Southwick

YES WE FED DEER!!!!

As I focus on the now, I see that Addie has friends who love her and I do, too:

LPA D1 Friends Finally, when I look at our extended family, I recall memories we made before and ones that are new. Times that we will spend that will mark each Summer, Fall, Winter and Spring. I will remember these times- the first time a shy babe came over to me and dropped her chin to my shoulder, seeing Addie as a new young member, sitting with the kids who didn’t quite make the height requirements for the Sky Ride, loving how gentle a lanky 8 year old can be with my sweet girl and how flirtatious he is the next moment with a 10 year old, beautiful girl with achon. Watching children revel in summer play, explore new friendships and not one person mention being small- except for the silly “who rides in the wagon next based on the most recent surgery” competition (all in fun!) or making sure anyone in a brace is nice and cool in the sun- these children are all just kids. There are so many days when this will, quite frankly, not be the case. There are days that will be hard, but these are the times and the people who will provide some of the best days of all. This is my family. I may not have consciously chosen them, but I am so thankful to have them in my life and will continue to make the effort to keep them close.

My family

If you wondering where you can get local support, please look into the LPA district sites and contact your local chapter. I promise, you will find a group that you can learn from, laugh and cry with, and feel normal (my n-word) with. Interestingly, Peter Dinklage says his parents had these groups where he grew up (in North Jersey) and he sort of mocks them as support groups for parents (although I love this interview). Although that may have been his experience- as he did not keep in touch with the other children he’d met, I have to say, watching our babies run around and play with each other- getting to see friends that they live far from but have such great memories with, I know that staying involved in the community will be more than just for me, but for Addie as well. Just like I like to be around other hockey fans, I’m in groups for just new moms, Dave has his computer-tech-savvy groups, Addie will have her groups. Some may consist of other swimmers, pianists or princesses, ballerinas or t-ball players- and one group will be of other children who, like her, have a form of dwarfism.

My random of the week is silly, but when you’re in Rhode Island and your husband is traveling abroad, you get jealous. By “you” I mean ME! THIS hotel is somewhere I need to stay! Dave sent me a bunch of pictures, and these were from his hotel- The Bellezza. Taipei IS VERY HOT during this time of year, and in an eco-friendly manner, many businesses use the air conditioning sparingly. In all the heat and sweat, Dave loved his hotel room as his place of rest and rejuvenation and I did too… at least in theory. The rooms are HUGE and super convenient to get places, including public transportation and their World Trade Center (where he was working for most of the week).

Tapei hotel room

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Preparing…

I receive emails every week asking me questions about dwarfism, Addie, diagnosis, signs, etc. I got the following email (personal information removed for privacy) and wanted to share it with you in case you (or someone you know) have questions about a recent diagnosis:

First off your daughter is ABSOLUTELY BEAUTIFUL!!! I am 22 weeks pregnant with my first child and my husband and I were told at our 18 week doctor visit that our daughter most likely has a form of skeletal dysplasia. After sending us to the Children’s Hospital and doing ultrasounds and a CT scan they narrowed it down to achondroplasia. Although they won’t say 100% or not if she has it because we opted out of doing the amnio since she didn’t have any other chromosome disorders. When were you told or diagnosed that your daughter had achon? We are just worried and scared and don’t know where to begin since neither side has a history of skeletal dysplasia. We go back to the doctor April 23rd and will hopefully learn more then, but I am wondering if you could give me any advice or suggestions on what to do to help prepare for a child with achondroplasia. I have read that achon children will have problems with sleep apnea. Also I have read that it is advised not to put your child in a bouncy seat or swing. I am wondering what I should register for at our baby shower. I appreciate any help you can give me. Thanks in advance for taking time to read my email.

I responded:

Hey (name)! Congratulations on your pregnancy! You’re halfway there- are you excited?

Thank you for checking out the blog- and Addie <3 She’s the light of our lives and also our first baby. We have no history of skeletal dysplasia in our family, so we were surprised- We didn’t learn about Addie’s diagnosis until she was about 9 1/2 weeks. Addie was born average size (18inches and 7lb,7oz) with no bossing of the forehead or noticeable trident in the fingers (where the 4th and middle fingers split). 80% of the time, children with achondroplasia are born to AH (average height) parents and have AH siblings, etc. There is a whole numbers-based system I could lay on you about that- but truly, it’s not important now. After her birth, a genetics counselor will speak with you and you will have many opportunities in life to go over that. For now… let’s talk baby gear!!!

We didn’t know about Addie being “achon”, so we had some things that we had to return, or re-gift… clothes being a BIG issue. Personally, I suggest keeping ALL tags on clothes- bringing one NB and one Preemie outfit for going home from  the hospital (Addie was in NB and it was huge on her), and keep receipts for everything. Besides that, there are certain things that should not be used due to spinal issues like:

Bumbo Seats, or similar designs. Our babies have spinal differences, and should not be propped up to sit. For this reason, some milestones will be slightly delayed (See CHARTS), but do not fear. They find their way! Addie army crawls all over the house and loves to pull everything on the lower shelves down on the floor in her reign of terror :) It drives the dog crazy.
Slings shouldn’t be used because there isn’t spinal support. I believe we CAN babywear our LP babies, but we have to make changes to each product to provide support and make sure the head and neck are supported.
Umbrella strollers don’t offer support to the spine.. I will make my only stroller recommendation below.
Bouncers, swings, sling seats, jumpers (clips onto the moulding in a doorway)- HARD BACKED items are mostly ok, you just want to make sure that there is plenty of back support! Addie likes being in an exersaucer, but not until she was well over 3 months and it has to be on the lowest setting (make sure it’s adjustable) so her feet touch, as the legs should never be hanging as it’s bad for the hips. The stability is good in the saucer FOR ADDIE (but not all achon babies have the core muscles to be in one and can damage their spines- TALK TO YOUR DOC FIRST), but jumpers that give leeway to movement can be a lot for their legs and back to control and cause spinal injury.
Preparing for a baby with achon, is just like preparing for any other baby (although if we had known prior to her birth, I  would have looked into NOT getting lots of clothes and certain baby things). All your little one will need is love. Some kids that are said to have dwarfism, are just little at birth. Some do end up with a type. Without amnio, you won’t know for sure- BUT I would not do the amnio, either! If you can, research doctors- and make sure you speak with your chosen pedi about the diagnosis. We see Dr. Bober for genetics (every 6 months) and Dr. MacKenzie (orthopedics) in Delaware… we also have local doctors: pedi, ENT, audiology, neuro (for sleep studies), etc. Early intervention is state run and you will, with a dwarfism diagnosis, qualify for services- there is NO need for therapy right off the bat. We use EI for the pool and some sign language classes as Addie had some initial fluid in her ears and hearing loss- but the PT does not touch Addie- she just monitors her. As I said, our babies are a bit behind AH kids in their motor skills, but they get there and they do it their own way.
As far as your registry goes… people will give  you clothes, no matter what- so I chose not to register  for any except for the very few outfits I wanted Addie to have for sure. Some items we LOVE: Rock n Play (perfect for sleeping next to you in the room- allows for slightly elevated sleep if there is a breathing issues, Graco Blossom highchair, Mia Moda Facile Stroller (THE ONLY UMBRELLA STROLLER I WOULD EVER RECOMMEND FOR OUR BABIES- there  is a crossing ‘X’ at the back, and an adjustable foot rest- it provides the best back support I’ve seen in any stroller)- NO UMBRELLA STROLLER SHOULD BE USED PRIOR TO SPEAKING WITH YOUR DOCTOR, lots of small toys- I love the Green Toys teether, and the Angel Care monitor- Addie sets hers off sometimes- it’s been helpful to tell when she’s having a particularly tough night in the breathing department, and a good way for tummy time- which is crucial for a strong neck and back. For you… the Mombo Pillow! I used it for feedings and to help Addie now when she’s sitting up in case she goes backward!

This is A LOT of information. I am here to answer any questions you may have and I am honored to do so. Please let me know how your appointment goes in a few weeks, and let me know how this is all settling with you before then!!

~ Chelley

*Legality clause*
I am NOT a doctor and all medical questions should be directed to a medical professional. I will tell you what Addie’s doctors have told me, however, in an attempt to help educate and offer other opinions.
I want to add that while many achon children do have apnea, many do not. A sleep study should be done early on, and yearly for monitoring under the care of a neurologist who is familiar with the differences an achon baby has.  -My apologies for forgetting to add this to my original email!
Addie has had two studies done and had much improvement in her second- leading us to yearly studies and not half yearly! You can read more about them: ALL BLOGS WHERE I TALK ABOUT SLEEP STUDY  Hope to hear from you soon!
And that is that! I hope that this information is helpful!

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