Friday, October 17, 2008

Dr. Pauli - The Man, The Myth, The Legend

I have a new love - Dr. Richard Pauli. For a year now, I have foolishly ignored Tonya everytime she told me to make an appointment with this sainted man. Thank god I finally listened! (Tonya, I was wrong. You were right)

For those not familiar, Dr. Pauli is a genetisist based at the University of Wisconson with satellite offices in Akron, OK and Grand Rapids, MI. He has seen hundreds of little people and is well respected with in the community. He is the doctor to see if you have a child with dwarfism. He also attends national and regional LPA conferences to speak, hold workshops and see patients. Did I mention that he considers himself part-time now?

We dragged our butts out of bed at 5:00 am in order to leave by 6:30 in order to get to our appointment at 8:30. Uuugggg. Even Owen was asking for coffee at that hour. Don't worry, we didn't give him any. We gave him Red Bull instead.

So here's the low down on the O according to Dr. Pauli.
Owen is ahead in gross motor development which means he is in-line with average height kids. Out of his 400 patients, Owen is the 2nd fastest to walk. A head to toe exam showed good muscle tone, strong joints and good reflexes. There was no clinical evidence showing neurological problems. His ear drums are "perfect" which was a surprise to Dr. Pauli. Most achondroplastic kids at his age have at least had an ear infection and many have tubes. The state of his inner ear indicated that he's never even had an infection (knock on wood!). His mouth is a good size and allows for plenty of pearly whites. At a 15% curve, his kyphosis is fine and flexible. His legs don't indicate any significant bowing.
Height was 28 3/4 (50th percentile) Weight at 23 lbs (50th percentile) Head size 52 cm (30th percentile)

It was exactly what we were hoping to hear and more. Dr. Pauli must have used the word "perfect" 10 times. Of course this was no secret to Dan and I, but it really feels good to have someone else say it! He felt that Owen was "precocious" and comfortable with his body (I wish I could say the same!)

The amazing part of the whole exam was that Owen patienly sat still for the entire thing. He let Dr. Pauli poke and prod him like a science experiment.

The visit however, wasn't without it's negatives. There was a little bad news. Dr. Pauli was concerned about the results of Owen's May MRI. His scan showed narrowing in his foramen magnum.

The foramen magnum is the opening at the base of the skull that allows the spinal cord to connect to the brain. People with achondroplasia inherently have a narrowed foramen magnum but it often does not cause any problems. If the opening is too small or becomes smaller over time, it can cause stenosis. Stenosis inhibits the flow of essential fluids and in the case of the cervical spinal cord, blood and spinal fluid. Steniosis of the could eventually cause spinal cord damage. If this happens there are a host of problems that could arise. Owen could lose sensation in his extremities, he could fall behind in his development, hydrocephalus, etc....It could also cause central sleep apnea which is why infants with achodroplasia need to have sleep studies in conjunction with neurologic care.
One solution to this problem is decompression surgery in which they would widen the foramen magnum. YIKES! Dr. Pauli he doesn't automatically reccommend surgery unless he sees spinal cord damage. Owen's level of stenosis is the worst you can have without seeing cord damage. At this stage, Dr. Pauli would determine the need for surgery by both the MRI findings as well as a clinical exam. As I mentioned earlier, Owen's clinical exam showed that he is completely asymptomatic. In fact, Dr. Pauli said that he had never seen such a disconnect between an X Ray and physical symptoms. Based on the MRI scan alone, he would have expected some physical manifestion of the stenosis.

The fact that he is doing well despite the narrowing was a small comfort. However, Dr. Pauli said that without the surgery, Owen should not play contact sports because the risk of a spinal injury would be much greater. That was a bit of a bummer. It's not that we were counting on a football scholarship, but when someone tells you that your child can't do something due to physical limitations, it really makes our situation real. We've been pretty lucky thus far with Owen. No major problems.

I was driving home the other day and saw my old grade school's football team walking back from football practice. It made me a little sad. At the grade school level, pretty much all kids play sports. I don't want Owen to feel left out. That being said we would never put Owen through skull surgery for the specific purpose of playing sports.

All in all it was a great appointment. His foramen magnum issue did not outweigh the good news we heard. For me, the best part of the visit is was that Dr. Pauli sat down with us for a full 1 hour and a half. He was not rushed or hurried or anxious to get to his next patient. He gave us the impression that we were his only patient. As was able to interconnect different issues of his condition in a way that we hadn't heard before. We have had compartmentalized treatment for Owen thus far: a geneticist, an orthepedist, a neurosurgeon, a pediatrician, another neurosurgeon for the sleep study. Dr. Pauli was all of those in one. We had a lot of "Ahhh!" moments. "So that's why Owen does so-and-so." We have decided to transfer Owen's care to Dr. Pauli (with the exception of 1 neurosurgeon) which will drastically cut down on appointments. YAY!!!!!!

The best part of the one ever asked why we were there!

Saturday, October 11, 2008

Happy Birthday Grandma!

Dear Grandma,
Happy Birthday! I love you very much and hope you have (had) the best day ever. I love when you pick me up from daycare because I get to spend time with you. I think you are the funnest person ever. You play with me and buy me clothes. You are always giving me kisses and telling me how smart I am (I think you are right).
Some people aren't as lucky as me to have a grandma who they get to see a lot and I feel bad for them. Promise that you will always love me and be around. My parents get very annoying and I will need a super awesome place to go. I can't wait to see you again and I am thinking about you!

Wednesday, October 8, 2008

Dan - Did you remember our anniversary?

Dear Dan,
3 years ago today was the happiest day of your life. You entered into the sacred bonds of marriage with me! I love you more today than yesterday....but not half as much as tomorrow. Hmmmmm, that sounds familiar. In all seriousness, there is no one I'd rather spend forever with. I love you!

OK - now because it's my blog, I get to re-live my wedding day. You are listening to our wedding music. "By Your Side" was our wedding song and "In Your Eyes" is our unofficial song. Corny huh? (the rest of the music is just some of my playlist I didn't want to erase)

Our wedding was, as the kids say now a days, off the chain! To this day, people still refer to it as the best party they've ever been to. Dan and I broke the halls record for biggest bar bill (as far as I know the record still stands). As career restaurant people, we had a reputation to uphold.
Somewhere in there, we managed to get married in full Catholic ceremony. The priest who has given me 5 out of the 6 sacraments I have recieved (for those Catholics out there who are counting, I almost died at birth and was given the anointing of the sick) married Dan and I on October 8th, 2005.

Let's take it from the top shall we?

My maid of honor & sister and I. This is exactly why people wear make-up to weddings. If I were famous, I would end up on the cover of Star magazine with the headline "Stars with out make-up: The Good, the Bad and the Ugly". You figure out where I would fall.

I loved my hair! I didn't want a tight, sprayed, updo. It was based off Emmy Rossum's Oscar hair in 2005. Luckily, I look exactly like her so it wasn't too hard to pull off! Haha!
I was really, really, really, nervous. It suddenly hit me that everyone was going to be looking at me. So I started drinking. Early. Pink champagne at 10:00am! After my dad walked me down the aisle, the first thing I said to Dan was "I'm kinda buzzed!" I hope the priest didn't hear me.
Dan, his dad and his brother Andy
My flower girls were my cousin Chloe, my nieces Alexis and Courtney.
My sis and I
Check out the smackaroo Dan laid on me. Check out the disapproving look from the priest!
After the ceremony was over, I immediately gained 5 lbs while recessing from the church.
Yay! No more leg shaving! Families merging
I seriously had the hottest bridesmaids! Friend Danille, sister-in-law Linda, Me, sister Anne, best friend Margo.
The guys weren't to shabby either

The phallic white tubes that people are holding were our wedding favors. They were thundersticks with our names & wedding date on them. When we were announced at the reception everyone beat them together while "Thunderstruck" by AC/DC played. It was awesome.
Our photog, managed to get some beautiful sunset shots. It's not a backdrop! At some point the DJ handed me a microphone. Big mistake. I rambled on about love and life and blah, blah, blah. Something to the effect of "I don't care who you love, just as long as you have love...". Totally embarrassing.
My wedding day was also my grandmothers 80th birthday. Instead of tossing the bouquet, I gave it to my grandmother. She and my granfather had been married for over 60 years. You could still tell how crazy they were about each other.
First dance to "By your side"
After an emotional daddy daughter dance. My dad, my sister and I shared a moment.
So there it is in a nutshell. It was a fun, emotional day. Regardless however of how wonderful the wedding is, it's the marriage that was the most important thing.

Sunday, October 5, 2008

Goodbye Grandma Jo

Dan's grandmother Josephine peacfully passed away last Thursday morning. Owen was lucky enough to have spent time with his great grandma on several occasions, most recently last weekend. She was one of the sweetest most loving women I knew and I feel privleged to have been part of her family. We all love her and will miss her very much.

Owen giving Grandma Jo kisses Grandma with cousins Evelyn (left) and Courtney Top: Grandma Barb, Owen, Cousin Alexis
Middle: Aunt Mary Jo, Grandma Jo
Bottom: Evelyn and Courtney
One of my favorite pictures
Picture from my sister-in-law Linda

Friday, October 3, 2008

Is My Child Disabled?

I recently had the question posed to me "Do you think of Owen as disabled?". My immediate response was 'Of course not!' was acutally 'Hell, no!'. But as I mulled it over in my head, the issue started to become a little more complicated.

The government considers my child diabled. I can apply for SSI and Children's Special Health Care. Owen's physical therapy is part of the special education program and he is eligible to recieve an IEP (individualized eduation program) throughout his life. Owen may even get to cut in line at some amusement parks (yesssss!!!). His technically 'disabled' status allows him advantages. But what about the disadvantage of being labled?

There is an inherent negativity associated with the term disabled. You are automatially assumed to be less in someway. Less able, less capable, less skilled, or dare I say less of a human being. I wonder though, are a technically disabled person's abilities' less or just different?
A person who has lost their legs cannot run, but may have more upper body strength that you and I combined. Is that less abled or just different? A child with autism may struggle socially, but could have an enviable amount of focus on a specific task. Is that less abled or just different? A severely mentally disabled person may not have the same rational thought process as you or I, but he has never looked another human being in the eye and purposefully hurt them. Is that less abled, different or even something to emulate?

I would do a disservice to Owen if I were to distance him from those labled as disabled. In the quest to be "normal", it would allienate him from the kids he has shared struggles with in physical therapy and from my own family and the members who have special needs. And let's call a spade a spade. Owen is not average. However, I would encourage the use of the term "differently-abled". It's seems more indicative of what the reality of the situation is. "Differently-abled" however, has to be an all- inclusive term. It has to encompasses everyone.

We all have different abilities, it is just harder to see what our weaknesses are. Owen's difference is on the outside. There's no guessing as to what his life's struggle will be. I'll bet you couldn't say the same about me. I struggle with who I am vs. who I want to be. I'm not always confident in the person I present. That's a weakness that effects my day to day life but you can't see it right away. But Owen and anyone else who has an obvious difference will always struggle more that I. As parents of children with outside differences, one of our struggles will be watching others react to the people we love the most in this world.

Owen may never be able to reach the top shelf, stair rails or some fast food counter tops but as I can already tell, his sense of ingenuity, innovation and initiative (basially all those "in-" words!), will be finely tuned. He will see and obstacle (literaly and figuratively) and know how to get around it.
In my book, that's not less, it's just different.

Wednesday, October 1, 2008

No one said it was easy....

A glipse into my marriage:
The Rachel Zoe Project. I wish this show annoyed me. It's more reality TV about a non-famous person who doesn't have a real job, and I'm hooked!!! Dan is about to walk out on me because of this show. Here's our conversation:

Dan: Who's she?
Me: Rachel Zoe, a celebrity stylist.
Dan: Does she make those dresses?
Me: No
Dan: Does she design those dresses?
Me: No
Dan: So she just goes to the store and buys clothes for people?
Me: Well, actually most of the time, the designers send the dresses to her.
Dan: All she does is unpack boxes full of clothes.
Me: Uuuhhh...well...she has someone to do that for her.
Dan (with a mixture of disgust and bewilderment on his face) : And she has her own show? You sit here and watch an assistant unpack boxes for an hour?
Me: Two, Dan. She has two assistants.
Dan: How can you watch this crap?
Me: You're talking to the same girl who watched a marathon of "Bachelorettes in Alaska". Bad reality TV is kinda my thing.
Dan: I'm divorcing you.
Me: No one said marriage was easy.