Tag Archives: Delaware

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

Keep Pushing

I was unable to find anyone who recorded (or even took a picture!) of the LPA Speakers’ Night, but I wanted to share my piece with you. I plan on recording me speaking it, but wanted to share it with you (written) in the meantime. So, without further stalling, here is my LPA Speakers’ Night Piece entitled: Keep Pushing.

#lpaSD2014 #LPA Speakers Night

As I embark upon the birth of my second child, I find the title of my piece ironic.

Keep pushing.

While that’s not my birthing mantra- that one is just breathe- Keep pushing is my mission in life.

Letting ourselves be defined by anything, even things that are so apparent, like our gender, sexual preference, race or disability is no way to live. It’s no way I will let myself or my children live, so why do other people expect me to allow such behaviors from them?

The answer is simple. The answer points a finger. The answer stings. The answer is me.

People treat others as they are allowed to. Sad? Pathetic? Lame? You bet. But it’s the truth. We love to take advantage of life- be lazy where we can be. We often, as humans, forget the implications of our language.

We let people call us homo, fat, crazy, midget, whore. Because as a culture stopping these things is too “politically correct”. We fear that we are being “too sensitive”, we aren’t raising tough kids, or we ourselves do not have thick skin.

“Good luck this time!”
“Good for you- trying again.”
“Sucks you didn’t know before she was born.”
“Is there anything they can do for her when she’s older to make her taller?”

Fellow humans have said these things to me. Why does the world view dwarfism as something to be cured, rather than embraced as a difference?

We don’t want to question what others say. We give up our right to know about ourselves when we don’t ask the hard questions.

“I don’t know.”
“We will learn together.”
“Let’s come back to that.”
“This is my first one.”

Doctors have said these things to me. Why is the education about dwarfism so slim that many medical professionals fear the diagnosis of dwarfism- offering patients little education and less options.

My mantra, Keep pushing. For respect, for knowledge.

Do you see it yet? Do you feel the need to push?

There is change that can be made. There is change that needs to be made. There are generations coming up behind you and me, behind the children being born today and the children following them. There are millions of people yet to be born, and thousands will have a form of dwarfism.

But they will not be dwarfs.

They will be painters and doctors. They will be writers and scientists. They will be political leaders and dreamers and veterinarians. Those born with a form of dwarfism will love and be loved. They will change lives and shape the world for future generations. The way we need to now.

There is a need to define ourselves by what we want as a community and let the masses, not the few, lead the way. Television shows that pigeonhole this community, media misconceptions, movies and comedians are things of the past when we push- and keep pushing- to be defined not as little people, but as people. Height doesn’t make someone smart, or happy, or better than. Average height just makes you average.

Be spectacular regardless. Keep pushing.

When a doctor tells me they do not know, I ask, “how will you find the answer?” When I am given news about a health concern and then that same medical professional attempts to leave the room, I ask for further explanation. I ask what our course of action is. I ask what their medical opinion and experience are. What is the timeline. How do we proceed? I push to know more. I push to make them answer. To make them accountable for their diagnosis. I refuse to let Google do my doctoring. I refuse to leave not knowing.

Too many parents email me with the same story. It goes like this: The doctors told me my baby would be a dwarf. They gave me a packet of papers and told me to make appointments for these things. They told me to be prepared, but not for what.

More often than not, I offer my telephone number. I spend hours each week calming mothers-to-be and new parents. Not giving medical advice, but offering an ear and listening to questions that are left unanswered. Unanswered concerns from a doctor who left their patients with a handout and maybe a few people to call.

This is not OK. This is not how patients should be treated. Dwarfism is not unknown. Specialists exist!

In my hours on the phone I’ve looked up local hospitals with clinics, referred many to our own team in Delaware, and always given out the LPA’s website. Hours spent giving the same basic information that needs to be readily available to all patients with a diagnosis of dwarfism. Support, love and most importantly, knowledge.

Keep pushing.

Keep pushing so that when someone sees a person of short stature they smile, the same smile they offer any other human on the street. Why? Because a person of short stature is any other human.

Keep pushing to make changes, because if there is such an uprising about a professional football team name change, then there should be a change across the nation of high school sports teams named The Midgets. Because other people do not decide what offends you. Because other people don’t control our emotions. Because being sensitive, caring, respectful people is what defines a civilized culture. That is what humanity means. Because even doctors need to learn something new every day. Because bedside manner isn’t dead (and neither is chivalry, if you were wondering).

There isn’t a facet of our culture that doesn’t need advocacy from our community, so be that voice. Never stop pushing because it doesn’t bother you anymore, or because you think one person can’t make a difference. One voice. One community. One change at a time.

Keep pushing because letting ourselves be defined by anything, even things that are so apparent, like our gender, sexual preference, race or disability is no way to live. It’s no way I will let myself or my children live, and I won’t being defined by anyone but myself.

 

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Filed under Achondroplasia, Community, Educate/Adovocate/Make Change

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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Filed under Marvelous Monday

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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It feels like coming home…

Yesterday I wrote about our great trip to Delaware and all the things we learned about while we were there, HERE. Today, I want to tell you about our family ritual: Saladworks.

I first wrote about going there after our initial trip to Delaware one year ago. In the POST, I mentioned how I ended up there in tears. Mostly of relief. As I see it now, Saladworks is a beacon of light. Going there for our first real meal of the day on our Delaware visits always signifies the end. The end of holding my breath and waiting for some news that may never come. A time to decompress and let go. As we choose our table in the brightly lit location on Concord Pike in Wilmington, I recall all the days I spent at a location that used to be near my parents’ house in Willow Grove, PA.

Saladworks

If you’ve never been to a Saladworks, which is possibly because they are rare in New England, you’re truly missing out. I always know that I’ll be getting the Bently, but I never know which soup I’ll choose to warm my bones on a cold rainy day… or in the summer, if I’ll just sip water or have some of the delicious iced tea they serve.

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Sometimes it’s the little things, the ones that seem so insignificant, that bring us the most joy in our days. While we plan our trips “south” to always include some WaWa, we know that Delaware will always be Saladworks. The friendly staff, clean restaurants, consistent quality and taste of their food and prime locations are what always keep us coming back… and crossing our fingers for a Rhode Island location!!!!

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Addie shared Dave’s salad (and mine, too), as well as nommed on a few saltine crackers that were available to go with our soups. She’s not so keen on soup yet, but she took a few sips off of our spoons before deciding that her mouth (which is quite achy from her budding molars) could only handle the soft pasta from Dave’s Turkey Club salad. Bonus: so much food, I got to finish my salad with dinner later that night. SO GOOD!

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I was so lucky to have been in contact with the Saladworks HQ, which happens to be in Conshohocken, PA (AKA Conshy, where I had my first big-girl apartment alone)- and was given a gift card that they sent to my parents’ house. When I saw the FedEx envelope Wednesday I knew exactly what it was, and I tossed it in my BAG before I went to sleep. I wanted to be sure it was with us on our early Thursday morning trip!

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Thank you Saladworks (and Mitch) for showing your customers that you appreciate them, as much as they appreciate you always being there. Who knew a salad could mean so much?

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Filed under Community, Parenting/Family/Lifestyle, Reviews

Marvelous Monday

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

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

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

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

The best Daddy <3

The best Daddy <3

What are we on the lookout for?

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

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

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

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

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

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

In between appointments we had a photoshoot!

In between appointments we had a photoshoot!

 

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

Giving a bouquet of balloons to Daddy <3

Giving a bouquet of balloons to Daddy <3

The weekend in brief...

The weekend in brief…

From the Sprinkle for Jess

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

Airplanes for the soon-to-be little man!

Airplanes for the soon-to-be little man!

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

Love,

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

…And we’re off!

It’s that time again- our half yearly trip to Delaware to see Dr. Bober and Dr. MacKenzie. It’s both exciting and nerve-wracking at the same time.

We’ve only ever gotten good news… or at least never bad news… but recently Addie has seemed like she has back pain. I hope it’s nothing, and just that when people push too hard on her back, she doesn’t like it- instead of it actually hurting. Either way, we are getting ready to go.

In my pink bag I have everything. Every x-ray, blood test, doctor’s note (from every doctor), clinic sheet from Early Intervention, denial letter from insurance, bill I’ve paid out, and all of my own research into Achondroplasia. It’s all neatly organized and labeled in the tote bag I carry from doctor-to-doctor. It looks harmless, but weighing in at about 14 pounds, this bag, a Clinique freebie (Thanks, C!), holds all that is my child’s diagnosis.

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Bringing this bag with me, armed with a notebook for my own use, I have never forgotten to ask a question, had to get back to a doctor, nurse, patient adviser, financial board or customer service representative with that information. I have it all in front of me, prepared for whatever is going to be said or done. Just in case.

I feel like there have been times in life where I’ve been ridiculed for my over-preparedness, but I know first hand that life can surprise you. And not all surprises are good. Some change your life, some alter your path, some enlighten and enrich, and others leave you bitter, grasping at straws to answer why. I don’t want to be the why. In fact, I want to prevent the why as much as possible.

With the gas tank full, the EZ*Pass loaded and a house sitter, we are armed and ready to take on whatever comes our way!

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

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.

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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!

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Marvelous Monday!

Hello, Reader! I hope you had a wonderful weekend, and did not imbibe too much! If so: Advil + Tylenol and have a pint of slightly salty water and lots of plain water… at least that’s what my college taught me ;) I spent my Sunday celebrating my little beauty’s 11 month birthday… where does the time go?!

Addie11Months

This week I am thankful for wine stoppers! You know when you open a bottle, and you know you won’t finish it (at least you hope you won’t), but you tore the cork to an unrecognizable heap of flakes-that-once-were? That is where stoppers come in handy. I got a nifty owl-topped stopper as a gift (post-baby gifts are pretty amazing) and I am SO glad. It’s cute in the kitchen and makes me feel a bit fancy. For those times when you’re trying to open the bottle of wine with one hand, while you stir dinner, soothe the baby, finish the dishes and feed the dog with the other- my wine stopper has saved me! I no longer have to look to where the cork went to, pry it off the corkscrew, or figure out how to slam it back in there after I let it breathe and pour myself a glass… thanks to this awesome invention. Cheers to you Monday warriors- may your evening [glass] be filled once tonight, and the remainder saved, nice and fresh for tomorrow!

I am excited about this week, because I have some information about dwarfism that is both interesting to learn about, and crucial to new POLP (parents of little people). This weekend, new parents asked me about getting an MRI for their child who is not suffering from pain or sleepless nights. This child is just a few weeks old and also has achondroplasia. Addie just had a sleep study, and I think that’s what prompted this email to me.

Background information: Spinal cord compression is very common in people with dwarfism. Compression is the narrowing of the foramen magnum (at the base of the skull) causing the spine to become pinched. In many cases this narrowing causes pinching on the nerves and can cause pain, as well as central sleep apnea, which is when the brain tells the body to stop breathing. Without the presence of pain, it is hard to diagnose compression without an MRI or a sleep study. Due to the American Pediatric Guidelines on what tests should be performed for a child with achondroplasia, many doctors automatically prescribe an MRI. Because you have to be perfectly still for an MRI, many children are put to sleep for the process. Anytime someone is put under, there is a risk. For very young children, there is a higher risk. For someone with different spinal complications than an average height patient, there are more concerns and risks. With that, people with dwarfism often go through many x-rays in their lives, and the more you are radiated, the more you become susceptible to diseases that stem from radiation. With that being said: specialists in the genetic study of skeletal dysplasias suggest a sleep study (or multiple sleep studies) to rule out compression long before they suggest an MRI. Again, this is without the presence of pain. If there is pain involved, there are other factors that will be discussed in terms of necessary imaging and testing.

So… I wanted to share some of my responses with you. I think it is both educating and enlightening. While there are so many questions as to what is right or wrong for your child, I find myself, with other parents, wrestling with some heavy decisions about excess imaging (Addie is x-rayed every 6 months for the first 6 years of her life as a standard procedure with her geneticist), surgeries, testing and the big decision Dave and I made to spend time and money driving Addie to Delaware twice a year (305 miles each way) to meet with the top geneticist and leading orthopedic doctor specializing in skeletal dysplasia. We seek information about who is the best neurologist, ENT, pediatric dentist who has seen dwarfism, EI specialists who understand the physical limitations of younger children with achondroplasia… the list goes on. But, here, I’d like to focus on the idea of the MRI. I feel it is not necessary without presentation of pain AND/OR a negative sleep study showing an excess of central sleep apnea occurrences, with or without a severe loss in oxygen efficiency in sleep.

I am not a doctor. What I say below are my opinions as a mother. The stated opinions below should not be taken as medical fact or used as your final decision without consulting a medical professional. Here is our back and forth. I edited some information so that this family would not be recognized.

Our child is currently only 6 weeks old and the doctor wants to schedule an MRI, in which he will have to be sedated. It just scares me to have someone so little sedated, especially with all of the complications associated with sedation

Why an MRI? Is he feeling pain, in your mind? Addie has sleep studies instead of MRIs because I won’t put her under for imaging.
Is it a geneticist or pedi? Do they have experience with achons?

Currently it is the Pediatrician. He is not feeling any pain, as far as I’m concerned. She says that she is following the American Pediatric guidelines associated with Achondroplasia. She wants to consult with his geneticist first and then we are to go on from there. I don’t think she may have much experience with Achons but I am told that is the case with many. I’ve had many moms on POLP tell me that their children underwent MRI’s in infancy because it’s standard and they encourage it. I’m very much against it.

YES- she is right. The American Pedi guidelines suggest it, but that is for doctors who have patients with dwarfism, but who are not familiar with the condition, as they need guidelines.
Find a geneticist who works with LP and go from there. Dr. Bober in Delaware (we drive 300+ miles twice a year) was so glad we didn’t get an MRI. It’s ridiculous to image any child unnecessarily. They’re looking for compression in the foramen magnum, which will appear as pain and/or central sleep apnea. Apnea can also be caused by obstructions like the tonsils or adenoids. This is obstructive sleep apnea. A sleep study is the best place to start, especially if you’re not noticing pain cues. A sleep study will give results about if apnea is occurring and what kinds are, if at all. With this information you can see a neurologist, for central/foramen concerns, or an ENT for obstructive concerns.
If pain were an issue, I would go for the MRI, but with all the imaging our babies need to get in life, I, personally, want to limit unnecessary exposure.

Sleep studies aren’t “fun”, but they aren’t dangerous- putting a baby under always has risks.
Lots of kids still get them, but it’s not something that the leading specialists in skeletal dysplasia find necessary unless they see issues elsewhere first.

And so… there is a bit of what happens in our lives. It’s not tragic, but it’s a lot to think about just a few weeks after your baby is born, especially when it’s not something (like vaccines or schooling) that most parents think about long before their child arrives. Thank you for being more aware with me!

Lastly, my random of the week is a review! I was not paid, so don’t worry about advertising here!

As many of you know, Dave and I don’t go out. Not like “oh we never go out, but we get take out”… we don’t go out, we don’t get food out, we don’t grab a quick bite places, or the like. We simply do not have the funds for that… so, when we decide to have an afternoon date, we hope it’s out of this world. Let’s just say the Kitchen Bar in Providence was not that.

I chose to stop here because there is a restaurant with the same name in Willow Grove, PA and I love it- they are in no way connected, but I figured we’d give it a whirl. As we entered with Addie (and her booster seat cover), we were greeted by a customer with Alzheimer’s who shook Dave’s hand and told us how beautiful Addie was. I already liked this place from the name, and this older gentleman really brought a softness to me. Now… where was someone to seat us in the small, nearly empty place? Ahh… there she is. She’s the one who seemingly doesn’t have a smile and the reached past Dave without so much as a grunt to grab some menus and ask us if we needed a highchair. It was a rough start, but we figured: no big deal.

SittingatKitchenBar

Our waitress (also the hostess) came to take our order: Dave the poached pear and sweet potato salad to which he added grilled chicken and the Reuben for myself. She walked away before I could ask for a cider. Dave caught her attention on the way back from another table and ordered one for me. She asked if I wanted a glass, to which I replied “No”. She walked over, pouring the cider into a glass. Hmmmm…

As I sipped my cider, Dave took Addie to the men’s room to change Addie. There were no changing tables/stations in either bathroom, but they were really clean (bonus). Dave changed Addie in his lap- he’s such a resourceful Daddy!

When our food came, Dave was so glad he had added chicken, as there was barely any sweet potato (small bits) and just a few thin slices of pear. He made a note that when you have small bits in salads, a vinaigrette tends to lose those pieces, but a creamy dressing picks them up. This salad just wasn’t exciting, the elements were lost and without the chicken (which was delicious and Addie ate half of), he would have been left a hungry man. Then there was my sandwich. I LOVE Reubens (call it my Jewish heritage), so I should have read better. There was no Russian dressing… but there was SO much salt, I’m not sure that dressing would have saved it for me. Thankfully, the fries were amazing. Crispy, not salty or greasy- just delightful… and plentiful! I think there were enough fries for an army!

FoodKitchenBar

As we cleared our plates (except for the fries and the bread of 1/2 of my sandwich), we waited; Addie slowly growing impatient. Dave and I downed our water, and waited. Our waitress bussed and reset a table, refilled a customer’s beer at the bar and checked on another table all while we both attempted eye contact. From the moment she’d set our plates down, she had not returned to check on us once. With Addie in her coat and finally showing that she was done and ready to nap, Dave got up and went to the opening of the kitchen (it’s an open kitchen and he just popped his head in and said “if we could have the check, that would be great!”- in the sweet way only Dave’s patience allowed. She plopped it down gently next to him a minute later, took his debit card and returned the black folder to Dave to sign. She quickly returned for it less than 30 seconds later. I have to admit, I was miffed. Not once during our meal did you check on us, but you came back for your signed receipt faster than a speeding bullet? I’m confused by the service, or lack-there-of and the food was less than wow-ing. Personally, I would not come back here unless it was to watch a game on one of their smaller TVs on a day when there were few people there again. The bar was well stocked, and people friendly enough, but when you spend money eating out less than 6 times a year (this includes take-out, dates and sandwich stops), knowing that you’ll have good food and a good experience means a lot. You want to spend those few precious moments that someone else is waiting on you in a comfortable and welcoming environment. For us, that was not the Kitchen Bar.

The aesthetic design of the pub-style restaurant was beautiful- simple and clean, and the location on Hope Street keeps you right in the hustle and bustle of the famous East Side. Stop in for a drink and some fries… but leave the kids and true appetite at home.

My favorites <3

My favorites <3

Have a marvelous week!!!

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Delaware

And so… finally. How was Delaware?

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

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

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

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

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

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

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

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

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

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

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

I know. I need to relax.

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

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

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

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

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

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

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

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

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

Addie playing some music on her belly!

Some more interesting facts:

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

And so, this is how Delaware went.

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

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

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

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Filed under Achondroplasia