Tag Archives: achondroplasia

A Birth Blessing

A friend once gave me a beautiful blessing before my first birth, and I recently found it tucked away in a pile of papers from 2012. I wanted to share it with you, along with some gorgeous photos that were taken by artist Lisa Gendron of Agroterra Birth. You can read more about Lisa next week (her doula piece is coming out!!!!), but before that, take a look at some of these moments caught during my maternity photo session:

#aisforadelaide #maternity #Agroterra #photography #motherandchild Baby kisses

Maternity Photoshoot by Agroterra Photography #aisforadelaide

#aisforadelaide #motherhood #blackandwhitephotography Marternity Photos

Looking at what she was able to get on film, she truly captured how I feel pregnant and how I feel with Addie. There is just connection. Love. Deeply rooted in me, who I was meant to be: Mom.

#aisforadelaide #maternity #Agroterra #photography #motherandchild

These moments speak more than what I could write about- they’re more than an embrace in a picture, they’re my vulnerabilities about myself and motherhood and being a woman unfolding and melting away. They’re they inspiration on harder days. They’re the sunshine in the rain.

Thank you, Lisa, for your love, compassion and for sharing your incredible talents as a photographer and friend.

A Birth Blessing,
by Shiloh Sophia McCloud

 

Maternity #blackandwhitephotography Agroterra Photography #aisforadelaide

May your body Be STRONG.
Your womb Be OPEN.
Your mind Be PEACE.
Your support Be WISE.
Your birth Be WELL.
Your baby Be BORN in HEALTH, HAPPINESS and HARMONY.

…and if you can’t get enough of Lisa’s amazing work, check out her Birth and Photography sites!

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Filed under Pregnancy/Birth

Dear Camille… heed this warning

Dearest baby girl,

You’re not even here yet, and you are so loved. I wanted to warn you of this before you are born. Before you are showered with love and affection. Before you grow up to be the little sister who will search for love from your big sister. Before you, yourself, may (no promises) become a big sister and get launched into the middle.

Before anything, heed my warning: You are loved more than you will ever know.

#aisforadelaide stretch marks #pregnancy #iloveyou

The other morning I looked in the mirror and saw what I’d failed to see before… stretch marks. Some were dark and deep, but mostly they’re just marks. They’re there and they will fade, but never disappear. I felt sad. I have not been feeling beautiful. I have been run down and stressed. I’ve had days where I haven’t eaten a thing and others where I’ve over indulged. The lack of sleep caught up with my skin and my long hair is in need of a trip to save the ends.

Your big sister walked up to me and kissed my belly. “You have beautiful belly, mama. I lotion.” She took a bottle from the nightstand and asked me for some. I pumped it into her tiny palms and she rubbed my tummy, talking about “my Millie” and repeating “I a big sister” again and again. Not once did she focus on my newly forming stretch marks.

#aisforadelaide #pregnancy stretch marks #thirdtrimester

You are loved.

I thought later that night I would tell Daddy about the morning Addie and I had, but instead, as I went to take her down from the dinner table, she asked to see my belly again. Begrudgingly, I lifted my shirt up. “Pretty mommy. My Millie.” Followed by a showering of kisses, her little hands feeling all  over looking for signs  of your kicks and flutters. For minutes we stood like that. Hands on my belly, kisses and her coos showering  you. “Baby sister,” she finally said, putting one more kiss on me as she signaled for my shirt to come down.

#aisforadelaide stretch marks #sisterlove #pregnancy

You are loved.

These stretch marks scare me. But they do not scar me. I am proud to be  your mother. To grow my stripes for you.

Heed this warning, and repeat it on the days that you feel like the angst-y teen I am sure to produce (I, myself, was quite the angst-y one):

You are loved more than you will ever know.

love,
mom

 

 

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Walking San Diego #travel

#lpaS2014 was such a great and informative time… but it was also a time we took to do some sightseeing! We had a lot of fun walking around San Diego, but there were some real highlights! I would post another 3,000 word post… only that wouldn’t be very fun for anyone. So here are some of the must-sees… and a friendly reminder that not everything has to be planned! One of the great things about San Diego (and travel in general) is that you can just explore!

I made the specific request to go to The Greatest Generation walk. To get there, we took a beautiful jaunt from the hotel (with Miss A in the stroller), and enjoyed one of my favorite things in the world… HISTORY! We would have loved to board the USS Midway, but it made more sense for us to see it from afar and get more city walking in! The area is just beautiful!

#aisforadelaide #thegreatestgeneration San Diego #travel

#aisforadelaide #USSmidway #GreatestGeneration San Diego #travel

Ralph’s Market… Just wanted to throw this in here. This market is awesome- from offerings to prices! I seriously never would have guessed that it’s a chain! There is a place to eat outdoors, a vast beer and wine selection, and lots of organic finds. Seriously… I’ve never actually loved a grocery store, but we actually talked about how this would be our place to shop if we lived in San Diego!

#aisforadelaide #RalphsMarket #Kroger #travel San Diego

The Gaslamp Quarter, Seaport Village and just spending time walking along the water and enjoying the many city parks was amazing. San Diego is unique in its city planning, with everything from street lights to water conservation thought about and done in a beautiful way. There were lots of small pockets of grass or random climbing places for Addie to take a break and run in, and because the sidewalks are often way bigger and separated from the road by some sort of gardens, I always felt safe letting her play.

#aisforadelaide #MLK #MartinLutheKing San Diego #travel

#aisforadelaide #travel San Diego #walking #tourist

#aisforadelaide #dole #citylife San Diego #travel

And… just to geek out a bit: The Hall of Justice!

#aisforadelaide #travel Hall of Justice San Diego

Where are your favorite spots in San Diego?

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Marvelous Monday

This week is post-op follow up! I am excited for a marvelous Monday… and Tuesday (where we will be back in dance) and Wednesday (where we’ll be back in Rock-a-Baby), and Thursday (which is our appointment) and Friday (when we’ll get a chance to sit and relax and go to a big family event!). It’s been a roller coaster of a summer and now that we’re on the mend, I wanted to celebrate a little bit! We’re so thankful to have some celebration, after all!

#aisforadelaide Marvelous Monday #farmersmarket #weekend #endofsummer

BIG strides happened last week! and I wanted to recap it all as we embark upon another week, sure to show more improvement!
ONE: Addie was off ALL pain medications starting mid-week, and aside from some of the expected soreness and some itchiness, she is doing great!
TWO: We also got pushed out of speech therapy! Addie has been in it because of her ear tubes (we only had sessions once every 6-8 weeks), and we finally had our follow up to tube surgery with our therapist and she and I both agreed that we were done. Addie has wonderful speech, is using inclusive words (“Come with me, mommy. Daddy you come, too.”), is understanding the difference between different but similar emotions, and all-around just doesn’t need speech anymore. We discussed how when Addie’s tubes fall out she may have periods where she will stop doing things (she stopped singing when her ears filled with fluid these past few months), but that it will come back and the sooner we take care of it, the better.
THREE: We also talked about how we would transition her out of Early Intervention. A LOT to think about, but it gave us a great end to the last week- and a wonderful start to our marvelous Monday!!!

I am excited that we’ve come such a long way from where we were 2 weeks ago… and that we were able to enjoy our weekend together- with matching nails, almost finishing Millie’s room, sibling class and going to the farmers market. It was a full weekend, but certainly a wonderful way to start the close out of our summer.

#aisforadelaide #jamberry #julep #nailart Marvelous Monday

Addie went to her sibling class on Saturday, and while it was more for fun, I loved watching her carry around a giant, heavy baby doll, learn to change a diaper and read a book with Dave about becoming a big sister (one she’d read before from the library!). It was a lot of fun.

#aisforadelaide Marvelous Monday #siblingclass

With Addie enjoying a gumbo full of okra on Saturday night, we’re onto cooking leeks and purple potatoes this week… we will surely miss the market when it closes, but will take every advantage of trying all the local fresh fruits and veggies until then!

#aisforadelaide #famersmarket Marvelous Monday #veggies

With an amazing week ahead of us, we’re wishing you a Marvelous Monday and week, Reader!

lots of love,

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Listen to Your Mother… that’s me!

I am still full of awe and honor to have been a part of the 2014 Providence Cast of Listen to Your Mother….

Listen to Your Mother Providence Cast 2014 #aisforadelaide

(My intro written by the talented Carla Molina at All of Me Now):
Chelley Martinka is a Philly native with a little thing for Game of Thrones. A closet drummer, she’s a mom to one awesome kid living with dwarfism and is expecting her second daughter this fall. Chelley is up next with “Do It Ugly.”

Do it Ugly

Everyday, when I look at my planner, I see this quote, Dream so big you’ll look like an idiot if God doesn’t step in!

It’s a reminder to do it ugly. To get in in past my ankles, waist deep. To get dirty, cut- go full throttle.

Growing up, I was loud. I would sneak out. I smoked cigarettes and overly enjoyed cheap beer. I played a lot of sports and I was rough when I did it. I got injured. I suffered from depression. I liked a good party. I liked to study so much I graduated college with a 3.5 in 3 years with almost no friends. I got tattooed. And then got some more. I got dermal anchors before they were a trend. I dated. I over committed to people that needed “saving” and after they were saved, I moved on. I broke hearts. I uprooted myself a lot, took on a lot of jobs, was reckless with my emotions and other people’s hearts.

Doing it ugly was more about how low I could go. How many problems I could fix of someone else’s while ignoring my own needs- uselessly helping others chase their desires. I knew I’d never stick around long enough to see the ending. Like the friend who needed money for car payments… a loan I would never see the repayment of- I worked weeks of overtime. I’m not quite sure why, except it seemed like the right thing to do. I was a wild one with a sucker-streak- looking to take care of all the people surrounding me, and sleeping as little as possible while doing so.

But then it happened. I was approached by a lion tamer with the patience of a kindergarten teacher and heart of a saint. Some have come to call him Dave. So here I was married. A wife. Together we ripped apart the money pit and created a home. We both worked long ours and enjoyed uneventful hikes with our dog and nights by the firepit with friends.

Gone was the Chelley of the past, replaced with this woman who quit smoking, ran half marathons, was letting someone else take care of her once in a while, learned to enjoy wine over whiskey and, for whom staying up late lost its once alluring appeal. Who the hell was I, now?

Not looking for redefinition, she came- The reason I had to get all riled up again. My reason for getting my hands dirty- I was ready for parenting. Here I was, rolling up my sleeves and spending late hours burning the midnight oil- literally- we have oil heat. But I was more than prepared, I’d been practicing to parent this special lady since my days as a rebellious teen.

I knew everything I did from the moment I heard her cry would be things she would be proud of. My perseverance would be her life lesson. I would work hard, and when she was diagnosed with a high-functioning disability, I knew I would dig harder than I’d ever imagined. With letters, videos and a blog, I would educate about our life as a family. I’d take attacks and hard words and fight to change the stigma. I’d create a team consisting of specialists in Massachusetts, Delaware and Rhode Island. I don’t know the answer to that, would be an answer I’d never settle with.

I would allow no one thing would define my sweet girl, a lesson I’d learned from my own mother. Dwarfism, gender, religion or a favorite band would simply be aspects.

I would raise her to be generous, dignified and tough. A woman who could do whatever she pleased, in jeans or a skirt, at a bar watching the game or in the courtroom arguing her case. With my biggest dream being a world that truly sees no difference between my Adelaide and any other human. Recognizing her disability as something about her, not something that defines her.

I spent two days bringing her into the world… and I will give my life to give her dreams so big that she never knows what the ground looks like with her eyes closed.

And while most of my days are beautiful- I work hard to make sure they are. Everything in life that feels like it’s too much is all the more reason to get in there. To do it ugly. Everyday isn’t a fight, but when it is, I make sure it’s worth it, to go hard.

This life is my one shot to make it what I want and give that power to my future warrior woman- and no one will lessen my gusto or dampen my dreams- not even God, herself.

Listen to the cast:

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Filed under Educate/Adovocate/Make Change

LPA Fashion Show #lpaSD2014

While we enjoyed all the workshops that the LPA National Conference had for us, we also loved participating in other events- like the Fashion Show! Check out Addie in her first appearance in the LPA Fashion show at #lpaSD2014!

LPA Fashion Show #lpaSD2014 #aisforadelaide

#aisforadelaide LPA Fashion Show #lpaSD2014 #rehearsal

#aisforadelaide #lpaSD2014 #firsttime LPA Fashion Show

#aisforadelaide #lpaSD2014 LPA Fashion Show #cuteasabutton

#aisforadelaide LPA Fashion Show #runway First try!

#aisforadelaide #lpaSD2014 #finalrunwaywalk LPA Fashion Show

#aisforadelaide #addiandjack ##lpaSD2014 LPA Fashion Show

#aisforadelaide LPA Fashion Show #addieANDPayton #lpaSD2014

#aisforadelaide #LPASD2014 #life LPA Fashion Show


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Filed under Community, Travel

Marvelous Monday

“How many times has this happened?” She asked me to repeat the number.

“Six. But only 4 times this year.” It was May. I knew our batting average was not good on this one.

“I’m going to refer you to a neurologist just to get her take. Other than that, she’s perfect- don’t you worry.

Marvelous Monday Decompression Surgery #aisforadelaide

I’d heard that before. When Addie was a newborn, I was told not to worry. A lot of kids have big heads, but they just wanted to be sure. I’d pushed to know more and at 9 1/2 weeks she was diagnosed with achondroplasia. And here we were. I’d pushed it. I’d asked if these blackouts were normal. She’d hit her head. No breathing, loss of color, completely limp, eyes rolling. 10 seconds with a lifeless body that would spring back the with force of the Devil inside, screaming. Followed by a headache, but other than that, back to herself. Six. Times.

“So she hits her head, cries, then stops and passes out? Sounds like she’s holding her breath.”

“No,” I responded. “She hits her head and nothing. I pick her up, trying to stop her fall from the beginning and nothing. She is lifeless. Then she comes to. She doesn’t cry first. She’s not holding her breath.”

“I see.” I see, too. Her hands furiously typing into the tiny laptops that the hospital just implemented in their paperless plan. She’s slamming at the keys, catching each word.

“Does she  ever get headaches?”

“Yes, but they’re weather related, my husband and I get them too. She has them a few times a month.”

“So you all get headaches at the same time?”

I paused. I felt hot and upset. “No, we don’t.” I’m wracking my brain. Dave and I get them on the same mornings, but not always Addie. Some days she just rolls around holding her head, and some nights she’s done this. “But it’s not all the time,” I’m sputtering. I want to take it back. How did I miss this?

We talked for a while longer. We did a neuro workup… a few times. Then, “I’d like to order an MRI to check it all out if that’s OK with you, mom.”

I left with papers and numbers and numbness. From the first hours I spent reading about achondroplasia, I feared decompression surgery. The recovery, pain, spinal cord, scarring. Everything about decompression scared me.

The MRI was done, and that was that. I was sure she was fine. My achon baby who walked at 16 months, spoke in full sentences, showed no significant apnea after age 1… she didn’t have classic signs of compression in her spine. She was fine.

She was fine.

I got a call the very next day from a doctor. The neurologist didn’t like the MRI, the neurosurgeon didn’t like the MRI. The story, the images. They were not great news. “Give her office a call. They will get you an appointment soon.” The appointment they  gave me was nearly immediate.

We discussed surgery, but nothing was in stone. I wasn’t convinced. I wanted more opinions and I would get them in San Diego from our specialists- but after the images and story, the answer was still clear as mud. Sure she falls a lot- all kids do. The blackouts may not be from compression. Her images are not indicative of surgery. Our doctors could go 50/50 on the surgery. I felt lost, but with an order for more images. They would tell us something. They must.

So last Wednesday we headed to Boston. Hungry and hot, Addie was ready for whatever was in store so long as she got to eat at some point. By 3pm they finally took her back- she was so loopy from the meds that she could hardly whimper when I handed her to the anesthesiologist, but I was still torn apart. We met back up in recovery, where Addie was still asleep. There was a laundry list of medications, and my usual lion woke up rather calm (read: drugged) from the anesthesia with her usual intubation-throat, looking for snuggles. At last, we were in the car and headed home.

By midnight we were mostly asleep, but not ready for the next day.

We walked into the APC building at Rhode Island Hospital- full of angst and armed with her MRI from the day before. We talked again. I mentioned her falls seemed to be from slow feet. Her waking in the night. Her headaches that still happen, but not often. We talked about how she hangs her hands funny sometimes, but she seems strong. There haven’t been any blackouts since April- she hasn’t gone backwards since then. Then there was a neuro workup.

At first, I thought it was my mind playing tricks, but as the specialist hit her heel, I saw her foot jerk. The fluid motion I was looking for, the common reaction of a reflex was replaced with this ugly movement. Taking her foot in her hands, she pressed up, let go and checked with the hammer again. “Clonus.” I said. She looked at me with sad eyes, knowing eyes. She recognized defeat in my voice. I had nothing left to fight about. Clonus is a sign of neurological hindrance (a continuous rhythmic reflex tremor initiated by the spinal cord below an area of spinal cord injury, set in motion by reflex testing). Catching it and treating the compression would be key in keeping Addie healthy. She could eventually stop walking and suffer from severe spinal damage without it. Decompression was the way to go. I had my answer.

All I could think was fucking clonus.

The neurosurgeon came in. More people checked. Sure enough. What wasn’t there just a few weeks ago was emerging. You can’t make this stuff up. I was near speechless.

I’d wanted an answer. I said I did, at least. I wanted a yes or no, and I was looking for reasons. There it was. Coming in little jerky, hesitant motions. I signed the paperwork for her surgery (which is happening tomorrow) and we headed to the lab.

“Her veins roll away,” I said. “They look closer to the surface than they are. Seriously- they will try to escape. They’re hard to get on her.”

“We do this a lot,” she said back with a polite smile. No one likes to be told how to do their job, but to be fair, I warned her and I know my child.

They pulled the needle out 3 times, and moved it around in her small arm a dozen times. “I got it,” a phlebotomist beamed. The second one who’d tried. I was annoyed, I was crying. I’d told Addie that this day wouldn’t hurt. We were just going to talk to the doctor. But here she was screaming from her back, “No mama. I want uppahs. Please pick me uppahs. You said. You said. It hurts.” I tried to take it on, “I’m so sorry, bug. I’m so sorry I lied.”

“YOU LIED.” She screamed. It came in a spit. A slap in my face. She was covered in snot, and red-faced. The fear spilling from the corners of her eyes. I started to heave into her neck. She suddenly stopped crying and began to stroke my face. “Don’t be sad, mama. It’s ok. You ok, mama.” I stopped my tears. This was her moment. She began to whimper again into my chest. They taped the gauze on and she practically leapt into my arms.

We got home and she fell right to sleep. She napped. I made lunch and I started some laundry. I called Dave to tell him everything and I answered all of his questions. I joked on the phone with my mom about attempting to get a urine sample from a 2 year old. I sat down to work. And then it hit me. I started to panic. I lost my breath. The scar. It would be on her neck forever. I didn’t want her to have that scar.

It’s not the aesthetic I worry about. It’s her sweet neck. Where I nuzzle. Where I pull her hair up and the most graceful neck appears, balancing her head gently upon her shoulders. Long and lean. Untouched. Beautiful. There will be a scar in that place, to constantly remind me: I couldn’t fix this. I’m her mother, and I could do nothing but hand her over to a team of specialists.

As I came out of my panic, I decided I needed to put time aside. This week, as much as I want to write because I love to write, I will not. Of course I have work to do, but who I am means more. And who I am is a mother, a wife. I need to support my family this week and appreciate all of your love and concern as we regroup and work through this. As Addie goes through decompression surgery, we too must decompress.

Spinal Decompression HOlding Hands #aisforadelaide

I’ve spent weeks in denial- maybe months. I ignored a lot of things, never mentioning them except to friends because it was just Addie being Addie. Headaches I kept calling seasonal. Falling that looks like she was dizzy. Holding her hands in a funny way some times- almost floppy. Blacking out entirely when she hits the back of her head. Holding her neck. Screaming at night (which is pretty new). Gasping for air in the night, but not related to apnea (still sort of a mystery and hoping surgery helps). And now, clonus. I’ve denied it all too long, and I could not be more thankful to the multiple doctors who pried and asked more questions, forcing these things out of me. Showing me that decompression, though scary, is truly the direction we’ve been headed. Her strength, both physical and mental is sure to be tested, but our girl will be strong. My warrior.

Addie will be at Hasbro Children’s Hospital from Tuesday to possibly Friday (hoping for discharge before the weekend and maybe earlier), and I will be by her side the whole time. Her recovery means more to us than anything now, and while I can’t wait to be back (I love to write and share!), I have to take this time for family.

Have a beautiful week, reader. Talk soon,

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Filed under Achondroplasia, Community, Educate/Adovocate/Make Change, Parenting/Family/Lifestyle

50 Things *This* Mom Would Miss About Life before Kids

I read an article about 50 things moms miss about pre-kid life and while I understand it, I didn’t get it. I laughed a few times- how fun the old days were, with friends I thought I’d know forever. We shared so many secrets about life and lovers we totally thought would last forever- and they were there to buy me shots when it didn’t. I bummed cigs, stayed up late, didn’t worry about not having enough food to eat because I could just skim the samples at Whole Foods for a night. I worked a lot of jobs, and remember how fun it was to take off for the beach at 3am to see the sunrise at the Jersey Shore when I arrived. That was fun for me, then. At 22. We were friends then, bonded by whatever was going on in our lives then… maybe they’d still be here if someone had called more, or if I had the desire to drink whiskey at 11pm, or whatever the case may be. Here, at (almost) 30, I have no desire to live how I did before (remember the time I lived in an illegal warehouse space that had electric heat, so we didn’t use any in the dead of winter?)… I had a lot of fun when I was young and I have a lot of fun now. So, while I feel blessed to share wine with the women who have become family, I certainly don’t want to overindulge and sleep in, because hangovers have just never been fun. Friends who aren’t really there for all the ups and downs of life aren’t that fun. Coming home to an empty house isn’t that fun. But that’s just me. JUST ME!

Life Before Kids I would miss you even if we never met #aisforadelaide

I think these lists are fun, and I wanted to make my own. Please know: I never really slept much anyway (I used to run at 4am), and I still walk around my house pretty much naked, sex is spontaneous at 2am, I still have hobbies, I grew up in a Catholic and Jewish household so guilt is just something I deal with, and we only have one bathroom- this means I was never alone in it anyway- there was always a dog or cat or dude in there with me, talking to me through the door, or pawing (knocking) to get in.

So, here are 50 things I would miss about life if I didn’t have kids.**

1. Reading all those great books I forgot about.
2. Baby snuggles… especially on sick days.
3. The smell of milky breath.
4. Baby curls.
5. Tiny hands, and holding them as we walk (even if forcefully!).
6. Late night laughter from being beyond tired.
7. … Looking at the monitor and remembering it’s all worth it.
8. Appreciating the time I sleep in.
9. Finally using the microwave! (Hello, reheated coffee!)
10. Learning to experiment with new foods.
11. Drinking in moderation (finally).
12. Community.
13. Creating life.
14. Playing dress up (and wearing fancy clothes to the store because your toddler really wants you to wear those heels with that dress at Target).
16. The chance to sing aloud without fear.
17. Dancing like a fool without judgement (hey, it’s for the kids!).
18. Knowing glances with the mom of the other screaming toddler at the grocery store- being in the club!
19. Watching a mind work.
20. Vacation photos in the same places I took them 30 years ago!
21. Having a good (and cute) excuse for a messy house.
22. A friend for the dog that doesn’t need to go on a walk in the heat, snow, or rain.
23. A running buddy.
24. A constant backseat driver.
25. The reminder that no gift is as cool as Christmas lights and a few empty boxes.
26. Having someone with my same attitude to keep me in check.
27. A chance to figure it all out… again
28. …and to be reminded that I really know nothing.
29. Appreciating good conversation.
30. Being able to adapt.
31. Finally knowing who I can rely on at 3am for help.
32. Relating to my mother in new ways.
33. Having a sleeping child on my shoulder.
34. The money saving perks of fewer and shorter showers.
35. The drive to eat organic and keep only healthy foods in the house.
36. Days where there’s someone else who just wants to stay in bed and watch Disney movies all day.
37. Making up words to a song and no one correcting me.
38. Knowing I have super powers to keep another being alive!
39. Watching my partner grow into a new person.
40. Friends who become aunties and uncles.
41. Seeing my flaws as “bootiful, mama”.
42. Tickle fights.
43. Built in diet of never being able to eat my own food.
44. Learning to be resourceful.
45. Breastfeeding.
46. Showing off awesome boobs during pregnancy and nursing.
47. …and justifying the expensive bra after it all.
48. Kid selfies.
49. Having someone genuinely believe I’m beautiful.
50. Being a mom.

**At the time of writing this, I am incredibly emotional about being a parent. This piece is not meant to upset people who, of course, love being a parent but sometimes need a break. I think I’m almost jealous of that, honestly. Sometimes I am so immersed in all the medical stuff that surrounds our lives that I don’t want to get away from parenting- I’d take it all- but I want out of the medical things that come up so intensely fast. Some months have been so easy and some of these things she will age out of, but right now, I miss nothing of my old life… I just miss my child being healthy.

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#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop

I aim to relay information from the best people possible to treat the issues relevant to our kids. Because of that, I take quick notes while in workshops- whatever they are. Due to the private  nature of many workshops, the notes I take are usually for me- but the workshop I love the most is the one about hypochondroplasia and achondroplasia. So much information is exchanged, and while I remember a lot and am sure I know the facts, what I write down I know I had just heard. For that reason, I want to share just my notes with you (so don’t mind the shorthand)!

If you ever have any questions, or want more information, please ask! I would be glad to do more research and talk to our doctors to elaborate. Lots of love and thank you for reading up about two different types of dwarfism in our community! And so, without further hesitation, my notes from the Hypochondroplasia and Achondroplasia Workshop at #lpaSD2014.

achondroplasia description #nemours #aisforadelaide

Click image to open information about Achondroplasia from Nemours site

 

hypochondroplasia information #nemours #aisforadelaide

Click image to open information about Hypochondroplasia from Nemours site

  • Connection between hypochondroplasia, ADD and LD  (learning disorders). No real research since the 70′s, 25% by study, show a link. They don’t know the exact number, because there isn’t enough info, and in the study that was done info is either “lost” or buried. Temporal lobe dysgenesis- abnormal development seen on MRI,  can vary. Not sure if every hypochondroplastic has this or even if they do, does it really mean anything. Any actual correlation? Most likely link, seizures. But that’s also not proven.
temporal lobe dysgenisis FGFR# gene #aisforadelaide #dwarfism #genetics

Click image to open information in PubMed

  • Higher frequency of seizures, ADD, and  LD in people with hypochondroplasia compared to achondroplasia, even though the same gene is affected. Info is not better now than it was 30 years ago.  (Anxiety is a separate issue, usually not related to either diagnosis). Is treatment different for ADD for a hypochondroplastic kid vs AH. Short answer, no.
  • Growth hormones information from 70′s and 80′s so info is old, but no benefit to human growth hormone for achondroplasia or hypochondroplasia. Study going on now in Europe that strongly advocates for use in hypochondroplasia… but this is not supported by panel doctors, who feel results will not be supported by results in the long run. European doc results are not compelling.
  • New studies… CNP (c natriuretic peptide) what are the levels in achondroplasia and hypo patients? In phase two trials, BioMarin, reasonable data that this artificial replica of a naturally occurring peptide that circulated in our blood can reduce the side effects of the issues associated with achondroplasia and hypochondroplasia.
CNP BioMarin Study for achondroplasia #aisforadelaide

Click Image to open information from BioMarin site

  • CNP studies from BioMarin: Phase one. Adult volunteers, temp BP issues occurred. Ages 5 to 10 years, in process now. FGFR3 causes achondroplasia and hypochondroplasia. Analogy: like driving with the brake. This CNP peptide can speed it up. BUT, in all subjects, all CNP levels are actually high (in LP studied). The stumble here is the CNP resistance. It doesn’t have the same effect (analogy insulin resistance… you have to manipulate the receptor). So, can this pharmaceutical product overcome the resistance? Only tests will tell. Panel docs not all optimistic, but are interested in the results, especially if it helps increase the spinal diameter (aka help stenosis). Benefits more to the complications, not necessarily growth, associated with achondroplasia and hypochondroplasia.  A very small number of trial two drugs reach past that phase. The panel docs are not involved in the study or research at all, so they have the same access to details as the general public. Issues with CNP are very complicated and bring up other questions we’re YEARS away from knowing answers to. i.e. Would treatment need to be done in utero, could it exaggerate disproportionate features…
  • Is there a BP cuff for achondroplasia, how do we get it?
    Yes. The extra long small adult cuff works best. The typical adult cuff is too wide and fits too much of the arm.  Dr. Julie Hoover-Fong is publishing BP cuff study of adults being measured with this cuff or the typical cuff. No cuff for kids… but it is funny that they fear the BP every time (this is a personal experience for us with Addie and sleep study intake procedures). Adults should work with PCP to get a cuff in-office that works for them, but with kids, it’s not as significant… especially because so many things can affect it, like screaming or being nervous. Try leg BP, know that it is not as accurate.
  • Lots of variability in achondroplasia even though the same gene is altered. But there are not different levels of achondroplasia. (i.e. There is no mild/severe/etc. form of achondroplasia.)
  • As parents, don’t look for a big issue and miss something common. (example: Headaches may just be an indicator for glasses.)
  • Meclizine… not convincing to doctors on the panel. To come across something randomly that helps with a genetic disorder is EXTREMELY rare.
    Meclizine Study #aisforadelaide achondroplasia

    This is what the medicine is… it’s a “stumbled upon” theory at this point

    Meclizine Dwarfism Achondroplasia Study  #aisforadelaide

    Click image for article and information: Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia

  • Swimming. YES!  Starting dives are OK (as in swimmer’s start). No high dive. No diving really at all- just not safe for an achondroplastic neck.

#aisforadelaide #swimming #achondroplasia #dwarfism #hypochondroplasia

  • Avg life expectancy is minimally less. Two issues that impact life expectancy, spinal (infancy)  as well as cardiovascular vascular (adult). CNP levels in LP adults high compared to AH levels result in the likeliness of cardiovascular issues… could be a connection for achondroplasia. To keep issues at bay: Weight. BP. Diet. Fitness.

 

How much did you learn from this?! I love these workshops and the opportunity to go to them at National! I wish I could type quicker, but sometimes just sitting and listening is the most invaluable lesson of all!

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Marvelous Monday

It was Hell. The week (plus) of recovery that was supposed to be “a few days”.

I wish that was an exaggeration, but as far as common procedures go, tubes and adenoids tops the list. For Addie, there was the consideration of her spinal compression, so we stayed one night for observation where she turned up roses. The kid was a peach.

Then Wednesday struck.

Let’s start with admission…

She was great! We played and I wore a hairnet over my hat and looked really cool. (I was annoyed by one of the nurses who kept reading her name as “Adeline”- not a great way to instill confidence in a parent- but other than that it was OK.

#aisforadelaide #smilethoughyourheartisbreaking #hospital #surgery

I wrote about the surgery before… it was fine. A-OK. And then we made it to recovery… where she was upset and groggy and didn’t really want to come out of it until we’d been wheeled to her room for our stay.

This made for a late night-  so it was nice that Dave came to the hospital and stayed with us until after midnight when she finally nodded off. We’d all eaten some Boston Market (my pregnancy fave!) and watched some movies and I was feeling relieved that, besides some pain, Addie seemed to be bouncing back quickly!

#aisforadelaide #recovery #surgery #hasbro

The next morning was still uneventful as a few of our doctors were at the hospital that morning- the pediatrician, neurosurgeon and ENT- we got a few visitors and I grabbed myself a coffee from the cart before being handed discharge papers, a bottle of ear drops and heading towards the elevators. Good-bye 5th floor!

#aisforadelaide #readytogohome #recovery #adenoidectomy

Addie still seemed great, if a bit groggy, but I expected nothing less, so we headed home. After her bath she asked to sleep, so I tucked her in bed next to me and while I worked on the laptop, she napped. It was a loud nap- her snoring was rattling my brain and she cried in her slumber. When she woke up I offered her something to eat to no avail and gave her some Motrin, as per doctor’s orders. The night got progressively lethargic as she didn’t eat much dinner and was fussy to sleep.

It was well after midnight and I’d just finished working for the night when I saw her pop up on the monitor. She shot straight up and started to cry. Something is wrong, I felt it in my bones. I ran in, Dave and I practically knocking each other over to get to her and as he shut off her air conditioning, I brought her into our room. I could feel her warmth, and as I made a request for the thermometer I felt the hot, wet slip down my back. Sweet potatoes. The ones I’d made for dinner. They’d reappeared for us onto the bed, so I stripped us both and went to wash up while Dave helped and switched the bedding.

I called the emergency line for the ENT. The doctor told me to keep her hydrated and medicated to keep the fever down and call in the morning. The fever didn’t break for days. Food was nothing Addie desired- not even popsicles or pudding. I could see her ribs. And she cried through every night, even with the ibuprofen and acetaminophen regimen we had. I felt lost. When she finally was feeling better enough to get out of bed, I saw that her head was tilted slightly forward and she wouldn’t move it up. We went for a trip out of the house- the first in days- and she’d found a way to maneuver herself so that her head wouldn’t move. While I was impressed with her resourcefulness, I was scared, too. Why was her fever still there, and the crying in her sleep and now she wouldn’t move her head…?

We went to the pediatrician. We called the ENT. We conferred with the end result exactly as I’d thought: Addie was having an extremely rare, albeit not unknown reaction to adenoid removal.

#aisforadelaide #adenoiectomy #rarereaction #surgery #recovery

But now we are here. With the help of serious antibiotics, a lot of time in bed, and fluids, and after 11 days, Addie was on the mend and closer to being herself! I am thankful for recovery… and life lessons. Many times I thought I knew what an outcome would be, and many times I’ve been wrong. In this case, I knew that Addie would be OK, I just expected it quicker. She’s my warrior and I realize that the time it took for her to heal is that what makes her so- it’s the fact that she did it with such  courage. While I felt a breaking inside, she never did. Every time I asked her if she was OK, she would take my face between her hands and kiss me. She never answered. I don’t think she wanted to tell me, “no,” no matter how bad it hurt.

How could I not be thankful for this blessing… A child who looks out for her mother.

As we embark on this week with an MRI and the final decision as to whether Addie will have spinal decompression surgery, I open my mind to being stronger and more supportive of whatever is thrown at me- because this isn’t about me, this is about Addie and she deserves that much in a mom.

#aisforadelaide #perfection #recovery #surgery #adenoids

Your love and prayers are, as always, appreciated.
Have a beautiful week, Reader.

love,

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Filed under Achondroplasia, Marvelous Monday, Parenting/Family/Lifestyle