Tag Archives: achon

May 22, 2013 · 7:48 am

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!

8 Comments

Filed under #educate, Achondroplasia, Parenting

Tagged as , , , , , , , , , ,

April 22, 2013 · 7:14 am

Marvelous Monday

Hello Reader! I missed you last Monday- BUT the site made a seamless transition to its new host and here I am!

As many read yesterday HERE, I lost my father 15 years ago. This week, what I am thankful for is my niece Hadley. She is in my life because we were meant to have a special bond- a connection only an aunt can have with a child- to keep each other smiling when we forget how. I took Hadley aside as her party was winding down and we had a little talk. She smiled at me, and drooled a bit- to most it would seem that she didn’t understand me- but her smile came just as my eyes began to tear up and she let me hug her to me. It was a brief moment, but I am so glad that we had it. I love this beautiful girl!

Hadley's Party

My random of the week is date nights! I agree everyone needs some time without their children, but I don’t know that I’m ready for it. We went out to The Grand Tasting for Eat Drink RI festival with tickets that we won.

EATDRINKRI

It. Was. Amazing! Not just because we felt like we were just dating again (getting a little day-drunk will do that to you!), but because we hadn’t been out in so long and it wasn’t forced. I felt comfortable, albeit nervous, about leaving Addie, but I knew that she was old enough to communicate her wants and needs well enough to my mother-in-law and that she would have fun. Lots of my friends need to go out, but that need is not something I feel yet. Maybe it’s because I don’t let myself- it’s not like we have excess cash to go to dinner or the movies, but truly, I think it’s because Dave and I don’t get much family time and that’s the time we want to spend together. We dated and got married and had 3 “single” years together- in our first year as parents we wanted to be parents as much as we could! They’re only in babyhood once- we will be married forever <3 Thank you to Jen at Keekoin for the opportunity to have a beautiful afternoon together and my in-laws for taking such great care of Miss Adelaide!

Addie at InLaws

Lastly, my information about dwarfism is an update on Miss Addie AND a little bit about why we travel. We went to Delaware last week and had a great check-up (and first visit) with Dr. MacKenzie. Addie didn’t get the full skeletal work-up (thanks insurance company), but she did have two spinal views and an x-ray of her lower limbs (read: legs) and all of her “pictures” looked great!

As I’ve mentioned before, having the proper care for children with skeletal dysplasia is very important. While many children are perfectly healthy, monitoring their bone growth, as well as their overall health and development are very important factors to having a healthy adult life. Just like an average height child with a difference, parents want to bring their children to the person who knows best about their child’s condition- whether it is thyroid or behavioral, a hearing loss or vision problem, tippy-toe walking, etc. Addie goes to the closest doctors who specialize in, not just “has patients” with, skeletal dysplasia. Thankfully, the closest doctors are also on the medical advisory board for the LPA- which makes me feel all the better about her going to them. Dr. Bober (who was away on personal leave this visit) is her geneticist, and Dr. MacKenzie is her orthopedic specialist. When we saw him, Addie was in great spirits and loved playing on the table (i.e. eating paper).

Exam

We travel 350 miles (each way) to Wilmington, Delaware to A.I. DuPont Hospital, where we see these two specialist who work as a team, every six months. It’s amazing to see Addie’s progress and the amount of work that goes into proper care- all the questions, the physical exams that are done so gently- using minimal invasive tests like blood work- in favor of research and a thorough physical exam, the listening and true concern for each question we have, and making sure that we are comfortable with the care plan given- all make Dave and I so happy we are able to make the drive. We are lucky that my parents live about 80 miles north of the hospital so we stay with them on our visits, but there is a Ronald McDonald House there, too, and I know so many families who just love how welcome they are there. The hospital is pretty great, too, because right outside they have a beautiful playground with lots of places to sit and enjoy the weather! Addie LOVED playing after her appointment and got to go on a swing for the first time! …Of course for our picnic, we went to the local Saladworks (YUM!) and got our favorites to enjoy :) I wish Rhode Island would open a location!

Playground at DuPontEating together

This was Addie’s first visit to MacKenzie, and he saw that her kyphosis is still there, but he is hopeful that it will straighten itself out as she learns to walk and hold her spine straight, and her legs look great, too! I have been SO worried about her ankles, as they seem to bend out- I’ve never seen another baby with ankles like Addie’s- but he told me that that was normal. I have learned to laugh when I hear that word, but in this case it made me smile. Now I know that it’s normal for my achon baby to have ankles like this- sometimes it’s strange to be normal :)

Thanks for catching up with me! I hope you have a beautiful week ahead and a Marvelous Monday, today!

8 Comments

Filed under Marvelous Monday

Tagged as , , , , , , , , , , , , , , , , , , , , , ,

October 28, 2012 · 10:00 am

Travel-Wise

I want to write all about Addie’s trip to Delaware, but I find my head spitting out thoughts faster than my fingers can type. I tried to record my thoughts, but they got jumbled and out of place. And so, I’ve decided to write about it in pieces. In this segment I want to write about traveling. There are a ton of blogs out there about the usual things, but traveling with a baby on a train isn’t like a plane. And traveling with a baby who cannot be worn, on a train, is hard. Here are a few things sometimes, we just don’t think about.

We took a lot of stuff with us… and I’m glad we did. Previously I had traveled with Addie alone to Philadelphia, but she was 7 weeks and I was using the Bjorn. On this trip, we knew that we could not use the carrier because children with achondroplasia are not supposed to be in carriers, but there was also luggage for 2 adults and a growing, curious baby.

Traveling by train was a wonderful experience for me growing up, and I learned a lot being able to travel alone, see the sights and use public transportation, so introducing Addie to the train seemed natural to me. Dave has not had much train, or travel, experience, but we gave it a whirl!

Boarding a train that is heading toward New York from Boston is hard. Boston tends to leave little room for Providence to sit, and so we were separated by the aisle, both sitting in the end seat beside 2 women. Dave’s seat partner was reading an Alex Cross novel (some of my favorites) and mine was reading Nicholas Sparks. We felt it best not to bother our independent travelers, but wanted to keep Addie on her normal routine, so we bumped elbows a few times with our partners getting ourselves situated into eating formation. Yes formation:

That’s tip #1: STAY ON SCHEDULE!
I think that following Addie’s daily routine was what saved us from any battles. She wasn’t cranky or hungry or tired, because we caught those things before they came. Including naps, which were taken across my legs:

We were lucky to have taken the train during the week on the way down to Delaware, because after New York, the train cleared drastically and we were able to spread out a bit. It’s all about timing with travel- especially if you need the extra space. Taking the train may seem longer, but without the time needed for boarding and security and getting to your terminal (not to mention the extreme monetary savings, in most cases), knowing that I can spread my wings is one of the reasons I love this mode of transportation!

This was Addie’s nest on the way back; we got the 4 seats where two face another two, offering no leg room. Perfect for families, but most people don’t want them in case more people need them (you end up sitting on people with a lot of leg touching). We lucked out on our Saturday morning journey home:

Tip #2: Travel during slow times, if at all possible.
Knowing that we could stick to Addie’s schedule and travel at lower cost AND during low travel times (mid-week early day and EARLY Saturday) made the space we needed possible. There was more room for us… we need lots of space!

Tip #3: Use your surroundings.
Addie is a curious baby, and gets bored of things. I think that means she’s brilliant… it also means she can be hard to amuse for 6 hours in one train car. Using our arsenal of toys AND the outside was a perfect mix of making train-travel work for us.

Tip: #4 Get some sleep yourself, too!
It’s not like I could have been doing something else… so I took advantage of some shuteye with my baby girl!

Tip #5: Enjoy some good eats together.
We made sure to pack a small lunch bag with sandwiches and apples so we didn’t have to spend a fortune on train food. Bringing a few different foods and our own beverages meant that we could have what we wanted, when we wanted.

Benefit of trains: if you want food, you don’t have to wait for the cart AND it’s not nearly as expensive as an airplane.

Tip #6: Please, smile and laugh.
Nothing will be perfect, and your baby will make noise, bother some people and downright annoy others. Addie spent about 10 minutes spitting while another child in the seat ahead of us was making noises, too. In all honesty, I’m sure it drove a few people nuts, but to the parents that were near us, it was adorable. And it made Addie’s teeth feel better. Crying or raspberries? I knew you’d choose wisely:

If I could have worn Addie, life may have been easier, but remember (Tip #7) achon moms and dads, pack wisely! I had everything on hand in the diaper bag and none of the non-essentials. Boogie Wipes? Her nose wasn’t running, we didn’t need them and the package is bulky. Things like a large changing pad are unnecessary because they are big and non-useable on the train. An extra outfit for the babe, and FOR YOU(!) are a must-have, as well as diapers, wipes, and bags for your trash and diapers so you can collect your own mess. Bring an extra bag for toys and blankets. And when you pack your luggage, do it organized! My pump was close to the top opening on the suitcase, packed with the battery pack for no-outlet pumping (if the train is stopped, for whatever reason, they turn off the electricity), a hooter-hider, Medela Wipes (for waterless washing) and we had ice packs for storing milk. On a train you don’t know if you will be stopped waiting for another train, just like at an airport you may have a delay. Be prepared- for your comfort and for baby. Packing is key.

Tip #8… bring a friend. Or enlist a stranger.
When I travel alone, I find the most in-shape man in a suit. Not because business men are more trustworthy than anyone else, but because I can run really fast and a man in $200 Italian shoes, fitted wool pants and a two-button jacket cannot. They can however, lift your 50 pound (52 pounds, probably) bag onto the train for you and  up into overhead storage. Sometimes finding a red cap is hard, but a business man on a train? They’re a dime a dozen.

Tip #9 Practice.
How will the car seat come with you? Most babies, after a few months, are harder to carry in the seat than without. It’s oddly shaped and you can’t see over it. Try attaching it to your bag (sans baby, clearly). Does it work? Will it still stand upright? Do your wheels work, and all zippers close and do you have something on your luggage to show it’s yours (a bright orange ribbon, perhaps?) Attach your business card to all luggage, that way if someone is looking for you, and they contact your work, most likely work will know how to find you.

Tip #10 Don’t make your coffee before you go.
“Is the coffee pot off?”
“Turn around.”
We try to eat everything in the fridge that will go bad, surviving on pasta and cereal the day before a trip and chugging the milk for dessert the night before. Knowing that the trash is out, all appliances are off, and that we have no mess to clean is very important.
Have you ever made coffee before a week-long trip and come home to moldy grounds in the filter and dirty spoons stuck to the counter? I have.
Bring your travel mug with you to a coffee shop and fill up there. Then you have your mug- perfect for bringing coffee with you if you do end up making your own on your trip AND you don’t have to come home to any surprises… or the need to run vinegar through your coffee maker a dozen times then flush with hot water a few more times.

Tip #11 (Yes, 11 tips. I like to turn it up, all the way to 11) Make a list.
Put a list on top of your luggage on a large piece of paper. In red ink you should have written what should be in the car with you on your way to the station.
For example:
Large suitcase
Diaper bag
Toy bag
Lunch Bag
Bottle cooler with 2 ice packs
Car seat
D’s Messenger Bag
Coffee Mug (2)
GET FROM FRIDGE: 2 4oz bottles, 1 6oz bottle
GET FROM FREEZER: 6oz frozen milk
C’s car keys

If someone puts something in the car, mark it off. You will know you have everything and not remember half-way though your train ride that the baby’s milk is at home. A million lists and you will remember nothing- just one list with everything you need on it, and you’re golden. Pack your tickets in the most easily accessible spot the night before, lay out your clothes and in the AM you can get up and go!

I hope this helps everyone out there. I have had my fair share of forgotten toothbrushes (I now have an exact replica of ours solely for travel, as well as contact cases), missing “all ready to go lunch”, coffee pot disasters, and the like. I am hoping to spare a few people out there the same fate!

Happy travels!

Leave a Comment

Filed under Family Life

Tagged as , , , , , , , , , , , , , , , ,

October 25, 2012 · 11:09 pm

My apologies

As I sit here too late at night to think, I wonder: where has my time has gone?

Like any new mom, I am tired. But I am not tired because Addie doesn’t sleep. I am tired because I don’t sleep. My mother is coming tomorrow, but the house is already so clean that I decided I had to wash the couch cushions before she arrived.

The. Couch. Cushions.
Did I mention one couch is brown and one is cream?
That’s two separate cycles. Two different detergents. And twice the drying time.

That’s not to say that my house is immaculate. I have sewing material from one end of the dining room to the other, from fabric to thread… I NEED to get a pin cushion. That makes me feel about 100 years old. However, there is no hair on the floors, the bathroom is scrubbed and my bedroom can’t be vacuumed at 11pm. And so, the couch cushions are being picked on. Plus, they smell like Carter. The dog.

My real reason for wracking my brain is where is my writing? I have been looking for the same passion I possessed when I wrote my first post. When Addie was still trapped by wires and IVs in a hospital bed. When I looked at her and was filled with so much love and fear I thought I would explode from the pressure building in my body. But, I didn’t. I wrote. I released it all and I felt better. The research I found, the community built around me and the love and support of family were all I needed.

We came home, and I wrote more and more. I looked down at her and felt home. Free. Accomplished. I felt love.

I have been so obsessed with getting all of my emotions, science and fun about Delaware out that I’ve forgotten how to organize my brain. I’m so focused, I cannot focus! And so (finally), I have a post coming… a fun post- something great for parents looking for alternative travel. I wanted to whet your appetite and let you know: I DID NOT FORGET ABOUT YOU, READERS!

Sometimes, I forget about me. I sit with my glass of wine and talk with my husband, but I forget to get on the computer and get it all out of me. Release all of the things I need to say into this damned machine that entraps me with LIKE, Approve Tag, Pin, Share, and the sorts.

I like to write. I need to write. And I want to let you know… everything went great in Delaware! I have travel tips coming soon, as well as new growth and milestone charts for achon babies (parents, I hope your printers are working), more information about children with dwarfism in general, and a whole slew of new thoughts brewing in this over-tired brain!  Thanks for sticking with me!

Addie thanks you, too!

1 Comment

Filed under Family Life, Parenting

Tagged as , , , , , , , , , , , , , ,

August 8, 2012 · 10:20 am

Early Intervention

Addie went to Early Intervention for her physical interview.  She automatically qualifies for the program based on her diagnosis, but they like to get together to check where her skills are.

She’s 3 months… what skills?

I began the interview by handing the therapists toys that she likes, as she was completely disinterested in the ones that they wanted her to track and follow.  The red and yellow rubber “toys” she presented to her looked more medical than playful; I was glad that I brought along a few of her favorites. Once she proved her skills there, we moved onto a few other things, then questions about her eating.  These confused me, as they were asking about how she takes pureed foods. I’m sorry… what? She’s 3 months- update your questions to coincide with what the AMA guidelines are for feeding.

After more noise making and eye tracking, a little bit of reaching, and a whole lot of “prayer hands” (where she holds her hands in a prayer-like fashion), the therapists asked if I could pull her up by her arms to bring her into a seated position, which helps check her abdominal strength. Um, nope. Have you people seen her head size, which we discussed at length, and how I can’t let it snap back? She holds her arms and legs up in the air, she’s working her abs, let’s leave it at that.

So, we moved on. Sort of. One of the last questions included me holding her, facing me, in a slightly seated position cradled in my arms. From this point, I would drop her back, “just a bit”, to see if she startles.

You want me to drop her to see if she still has the startle reflex, which I said she did? Trust me. She does. And I’m not about to risk her head flapping back to prove it.

In the end, it was a fine visit and I agreed to worth with a therapist to come up with a care plan, but for now, that just consists of monitoring her motor skills.

I provided the therapists with a copy of the most up-top-date chart of where her motor skills should fall as an achondroplastic, and let them know I expect her scores from now on to be biased toward these age-appropriate, according to experts in dwarfism, milestones.

As it is, Addie scored at 3 to 4 months for each group, except social and verbal skills, where she is at a 4 month and 5 month mark, respectively. This was no surprise to Mima (my mom) or Daddy, as they both know how much I love face-to-face communication, always making eye contact with people I am in conversation with, as well as the fact that I love to talk. And I do so a lot!

It’s nice to see that being sure to speak with Addie everyday, encourage her to engage us in conversation and always make eye contact with her, whether she is playing with a new toy, getting dressed and counting her snaps, or in between the lines in a story- we are enhancing her communication skills.  I hope that she can keep up with her motor skills, but even if she ends up a big behind from AH kids, I know that she will reach her goals!

I do hope to add a few things to her goals, like looking at her toys more, but she just loves the social interaction she gets from the people around her, often losing focus on the object at hand and choosing to look at the people near her… unless there’s a ceiling fan.

A BIG congratulations to our tiny little girl for making her milestones thus far, and being the little chatterbox that mommy is, too!

1 Comment

Filed under #educate, Achondroplasia, Milestones

Tagged as , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,

August 5, 2012 · 3:17 pm

Reaching Out

I got a phone call Wednesday afternoon. It was a conversation that lasted 51 minutes and 57 seconds, not once during which I yelled, begged or felt hot tears welling up behind a headache fueled by stress. Nope. This phone call has left me lighter, although I wish physically, mentally. In fact, I feel like a feather.

When Dr. Shurr sat down with us on June 22nd and told us about Addie’s diagnosis, I immediately began to research. Everything that came up was negative. From the media portrayal to stories of surgeries and even deaths. It was heart breaking. I felt guilty. I felt sad for Addie. I wanted to do everything to make life easy for her, and was left to feel like all I had done was make her life difficult.

So I did what I do when I need to vent.
I wrote.

I blogged and was inundated with response from a whole new community. A loving and understanding community- complete with information no doctor had presented me with.  I was relieved to find so many blogs with information, but where was the medical community on this one? Why did it seem that no one besides other parents knew about Achon babies?

So many people reached out to me, many emailing and sharing their stories and all they knew to help Dave and me navigate Addie’s future, and for that I am so grateful.  One mom, in particular, went so far as to call me. She is the phone call.

She shared her story about her daughter who is nothing shy of beautiful, and is completely average in all she does, except her height. She does everything her older sister does, including scaling the stairs of their multi-level home, and does it with panache!

Since I began this week with a healthy does of puff, I wanted to end it with another light-hearted piece, filling your week with the sustenance of life: compassion.

This mom spends her days helping other parents who are just learning about dwarfism, understand what lies ahead for their child, and know that there are good stories out there to go with the “bad”.  Sometimes achon kids and adults need surgery- average height children and adults are no different. Achondroplasia doesn’t have to mean a new home, not having other children or a constant battle with insurance- sure these things may present themselves in different was; a stool in every room, a sibling who needs to understand their sibling has a few limitations, and an unruly agent who needs a lesson in LP, but for the most part, it’s all  going to be OK for Addie. She is my little blessing, as every baby is to their mother. I love her- big or small, and I am so excited to journey through life as a mom learning all I can to make Addie’s life the best it can be for her before she ventures out and changes the world!

1 Comment

Filed under #educate, Achondroplasia, Community

Tagged as , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,

July 17, 2012 · 9:22 pm

Brass Tacks

When you boil it down, there is a ton of information about parenting; breast feeding, diapering, scheduling, milestones, sleep patterns, bathing tips, birthday party ideas… these things rule the Mommy World on the internet.  But where is the information for a child who is not average? You know… the child who is above average, but below in height? Where is the information for children with dwarfism? And if you can’t find anything more than general information about dwarfism, let’s make the search easier, and pin point what we’re looking for: achondroplasia.

There are a ton of “facts”, and “the genetic workings” are explained in detail, but the deeper details, multitude of growth and development charts, information on specific spinal development, and what toys, carriers and car seats work best. Where is that information?

Well, it’s not there.

It’s not in Parenting, Parents, American Baby, Family Circle, Disney Family, OR at your geneticist’s office.  It’s not that I’m angry, I’m just confused and deterred. Who do you ask if the doctors don’t know?

I love nice people as much as the next gal, but when I want answers, I want answers. I  don’t necessarily care if a doctor is nice when there is no information in hand. It’s not a hard concept- I want to know all there is to know about everything there is to know ,so that Dave and I can raise Addie in the best way possible for her and her needs, while not forgetting our own. We are good parents doing a lot of research, spending time and energy on excavating information that a working doctor does not have time to seek. Except, the one doctor I hoped would know enough to answer questions I had without reading an article she presented to me weeks ago.

I am wholly aware that I need to be Addie’s best advocate, but is there anyone out there who will help me?

The most helpful information I got from the geneticist: Addie’s measurements. For which I provided the growth charts to be plotted upon.
…And provided the accurate reading of said charts- as the assistant, a pediatric specialist, seemed unable to read the caption under the chart stating which lines were for Achondroplastics and which were for AH children.

And so, I guess I’m really just relieved that I did a ton of research so that I could tell the doctor what she was missing, and so I knew what questions I need to delve into further with the right people. But, who are the right people?

I’m hoping to find some answers in Delaware… insurance pending. Insurance; I believe that would be a whole other blog!

On a happy note: HAPPY THREE MONTHS TO THIS BEAUTIFUL BABY GIRL!!


Thank you, one million times over, to the wonderful parents I’ve connected with who have given me more than advice- they have shared all of their medical knowledge with me- making disappointment easier to handle.  When I can’t find the exact answer I need, I know I can gain  a wealth of medical information from moms and dads who have walked the line before me.  Thank you. Thank you so much for sharing with me and helping me navigate my way as a new mom!

5 Comments

Filed under #educate, Achondroplasia, Community

Tagged as , , , , , , , , , , , , , , , , , , , , , , ,

July 13, 2012 · 11:46 am

Painful

A lesbian and an alcoholic walk onto a stage set…

Sounds like the start to a terrible, demeaning joke.
It is. But no one was joking about homosexuality, or being a drunk.

I hate to focus on the negative, as that is precisely what I’m trying  to overcome, but when I see this kind of train wreck, it’s hard to look away. It’s even harder to explain. There are “educated” people out there who believe themselves so righteous that they can mock another human’s right to live a normal (see: average) existence, job skills, sexuality, abilities and height based on their [alleged] phobia?

Build a bridge, ladies… then jump off. Please. For the sake of man kind, both tall and small.
Aren’t there enough self-fulfilling prophesies out there? Are there not enough people on talk shows that already hate themselves- so much so that they target others?

I find the best comedians, the ones with real talent, are the ones that can bring you to tears not making fun of a specific group of people. Rosie, you’re gay. Yay! for you. Chelsea, you’re a drunk. Yay! for you. Let me offer you both  a medal of honor. Both women have their differences out in the public eye because they chose to share. Addie and thousands of other little people never have the option to hide their difference if they want to. Walking into a room and choosing who to let in on an intimate detail of their life is not something they will decide upon, yet people choose to  mock.

Dwarfism awareness is being adopted by states, albeit rather slowly, and yet there are still such nasty people. It’s wrong to mock the gay community- I agree, wholeheartedly. And alcoholics should be nurtured to gain control of their disease, although if self-loathing jokes are what helps for now, good luck. No one can make an addict go to rehab. Does the community consisting of little people, their parents, friends, relatives and peers not deserve the same respect? Live and let live.

Let me tell you a secret, ladies. Addie, and all the other little people you so fear, can in fact get jobs; the first female president with dwarfism was just born, you see on April 17, 2012.

And thus, I have seen this video.  I actually viewed it for the first time the day Addie was diagnosed, sitting in my chair-converted-bed at Hasboro, holding my sick little girl and wondering what this unrelated, lifelong diagnosis had in store for her. Being a new parent is challenging. Having a sick baby is hard. Being in the hospital with a sick child is painful. Having your whole world (ultimately, your child’s world) change in a day, while in the hospital with a sick child is mind boggling.

Perhaps spreading this video is promoting its evil, but my true intentions are to show people who have similar feelings how ridiculous they sound coming out of the  mouth of others. There is a slew of videos lashing out at Oprah’s network for airing this, as well as to Rosie and Chelsea Handler- please search them, and heed their words: this video is ignorant, does not and will not ever describe little people and will not be tolerated anymore.

Concluding my rage and sadness, I watch Addie’s breath come in and out and her back rises and falls. Her chest puffing out into mine as she sleeps on me. She’s not your average  baby-she’s so much more, and I am blessed to have her. I breathe in as I gently kiss the top of her head, smelling her freshly washed hair, smile and breathe out.

Being surrounded by so many good people and a new community of friends- I feel sorry for people like Rosie and Chelsea. Not for being gay. Not for being drunk. Stupid. I’m so sorry they’re stupid.

And, for some inspiration, strength and a good education, check out this amazing 10-year old, Alex!

2 Comments

Filed under #educate, Achondroplasia

Tagged as , , , , , , , , , , , , , , , , , , , , , , , , , , ,

July 6, 2012 · 10:16 am

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.

3 Comments

Filed under Achondroplasia, Family Life

Tagged as , , , , , , , , , , , , , , , , , , , , , , , , , , ,

July 4, 2012 · 3:34 pm

Corporate America. There’s Hope.

I was disappointed.  Using a baby carrier was amazing to me. I was a baby wearing mama. Holding my little girl to me while I did everything from the dishes to walking the puppy, felt so pure and natural to me. I love the Bjorn which has more support, but the organic look and feel of the K’Tan was just what I wanted, and I was lucky enough to have a friend who purchased it for me!  I used it once, but Addie was so scrunched in it, I decided to wait to use it for a few weeks; then we learned she was an achon baby, and my little miracle could not use a carrier.

Scrunched Addie (see above)

No carrier.

I walked into the small local shop where I got the K’Tan. I explained that for medical reasons Addie would not be able to use it, and that it was clean, had all the pieces, it was in the box and had the instructions and warranty card.  The woman behind the desk glanced at me, her eyes darted to Addie, then to a piece of paper, where she was writing a note. “Your name and number. “ *** “I’ll ask the owner and call you later, but I already know the answer is ‘no’. We don’t take anything back that’s been out of the box.”  I was confused, as the carrier is clean, and there is one in the store, on display- out of the box, that they will sell. I assured the woman that I just wanted store credit, but she seemed to be distracted, so I wheeled the stroller in a k-turn motion and walked out.

I left the shop feeling dejected.  I would have loved to shop in this store again- support a local business. I was sure that the owner would call, or understand, but a message, “Hi Chelley, this is Xxxxx from Xxx XxXx, I spoke with the owner and we can’t take it back. Sorry. Bye.” Short, not sweet and not helpful. Instead of helping a local mom at an already difficult time, the almighty dollar takes the cake.  Instead of spending a few hundred there over the next few years, they made $74 on one sale. One time and one time only.  What a disappointment.  I would wanted a call from the owner (this truly is a small business)- to perhaps speak with her.  In a small state, like Rhode Island, all the business you can get includes everyone, right?

Please know that I am married to a small business owner. The business is my husband’s passion: music. Often times he has had to turn people away from full-fledged returns in favor of store credit, but he always takes the time to discuss issues with his customers- and speaks to them personally. To be told, “no”, was a lot to take, especially because the woman I had spoken to was so sharp with me and didn’t seem to hear what I was saying. I love the carrier, but medically I can’t use it. Isn’t the human condition a benefit here? The rules can be changed. Exceptions can be made. But, you have to listen.

And not I have to make the request that  no one give Addie gifts from small shops… clearly they cannot bend to be helpful to a new mom who is in apparent distress. As people serving people, looking up to see your customers, instead of down at your phone/keyboard/notepad, would go a long way. Sometimes you just want to know you were heard before a decision is passed down.

At the end of this debacle, I posted the carrier on line for a fraction of the price… and my big sister saved the day. A new mommy herself, she posted on Facebook and asked around, finding a buyer!

Sadly, however, this was just one of the few items that I was told “no” to on behalf of Addie.

Which brings me to Babies R’ Us in Warwick, RI.  I originally loved the idea of registering at only small shops, but knew we would need far reaching locations due to my family being all over the east coast (and some on the west, too!)- so BRU it was! I’ve been so happy with their assistance in returns and exchanges since the baby showers, and for this alone I was so grateful.

The Baby Einstein Bouncer was awesome! I remember seeing it and wanting it immediately; colors, lights, music and a ton of tactile activities. I was sure Addie would love it as much as I would.  Alas, this was not to be so.  Not a big deal to return, right? Wrong!!!

The box that the bouncer came in was cumbersome, so we took the inside boxes out of it and tossed the main packaging into recycling months ago; a small blessing that we never put it together. Driving to the store with Dave, he was convinced they would not take it back, while I was plotting my steps from pleading with the manager to writing corporate. We loaded our returns into a cart, including the pieces of the bouncer.

As we stood in line, I was already frustrated. Why do I have to explain things, why can’t “due to a medical condition” just be enough? I walked up to the counter with my cart full of stuff and explained, “I’d like to return some toys. I’m sorry I don’t have the main box for the bouncer, but it’s never been put together.” Michaela smiled at me and asked if we had been registered there. I felt the need to continue, “I really love the bouncer, but for medical reasons Addie can’t use it.” She glanced up from typing in my information and warmly smiled again. “No problem”, she said. While making small talk and commenting on how adorable Addie is and how she hopes she is OK, the sales associate scanned my registry info, found the bouncer, scanned the rest of my stuff, swiped a merchandise return card, handed it and the receipt to me and wished me a nice day.

I walked over to Dave, who was feeding Addie her favorite [and only food], Mommy Milk, and wanted to cry. I was so pent up, convinced that the world was against me. That, already, there were issues that would hinder Addie, but Babies R’ Us proved me wrong. A corporation caring about its customers, though I’m sure not always the case, has brought some light to the sadness I feel having to return toys that are not good for our beautiful little girl.

We got this beautiful elephant, a mirror, finger puppets, 2 books and an impression kit for Addie’s hands and feet with the credit. I think these will be great to help Addie’s development for touch and vision. I’m so excited to play with her new toys and help her develop at her own pace in a fun way!

Knowing that I shouldn’t give up on the world lending a hand is a good feeling- especially because this is just the beginning of a long road.

3 Comments

Filed under #educate, Achondroplasia, Community

Tagged as , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,