Wednesday, October 31, 2012

Not All Treasure is Silver and Gold...

I introduce to you my two Halloween treasures...
Captain Long Legged Gavin who's motto is...
"The Rougher the seas, the smoother I sail.  Yo Ho!"
He may look like a nice pirate, but beware.
 Turn your back and he'll steal your lady.
And then there's Captain Jolly Belly Brian.
His motto?
"I give the orders on this deck, me bucko!"
"Now go find a hat that fits Captain Long Legged Gavin's head or you'll walk the plank, Mommy."

And that concludes our Halloween.  No, seriously, we're done with Halloween!  I have yet to take the boys out for traditional "Trick or Treating."  I just think they're too young - for the door to door AND the candy.  Obviously, Gavin can't eat it - but I don't want Brian to be eating it (or asking for it) yet.  But have no fear - they had lots of costume fun!

Last week, we attended our neighborhood's Halloween Party and they both had loads of fun with kids from the 'hood.
Brian ran around playing the "Amazing Pumpkin Race" with his assigned team and did a great job!
One of the "pit stops" was to eat a donut off a string without using his hands...
He may or may not have cheated.
But you don't confront a pirate about such things.
Gavin was content in his stroller and even made a friend in his neighbor, Annelliot!
And he "talked" the entire time we were there.
He even spilled where he hides his treasure!
  But I'll never tell.

I think this is the last year I will "get away" with not taking the boys for that "door to door candy collection."  They have been blissfully unaware that they've missed out on anything and that's fine with me!  The parties and the dress up and the treats have been a lot of fun for them!  So they will be off to bed early before the doorbell starts ringing.  Don't report me to Child Protective Services if you know what's good for you.  I have two Pirates on the payroll here.  And they're not afraid to use that rubber sword.  Arrghh.

Happy Halloween!!

ps... do not miss tomorrow's journal.  It will be a Halloween treat from Gavin to all of you.

Tuesday, October 30, 2012

Hurricane Sandy...

As I type this, I am warm and dry.  We have electricity - having lost it only for ten hours.  Not a single branch fell from the many trees around us.  We are definitely blessed today.

But I am not celebrating our luck.  As you likely have seen on the news - or followed through social media as it happened - the East Coast experienced a devastating storm.  Our beloved beach in Ocean City, New Jersey  - that town has experienced unprecedented damage.  In Atlantic City, portions of the boardwalk are gone.  In New York City, cars were floating down the streets.  The most heartbreaking images, for me, were the nurses from NYU Medical Center.  After the emergency generators failed and they had to evacuate the hospital, they were pictured sitting on stretchers holding NICU babies skin to skin... ventilating some manually... protecting those children like they were their own.  I still can't talk about that without breaking down.

I get very emotional when things like this happen in the world.  It fills me with anxiety for all of those out there suffering.  I feel very helpless as I sit here in my warm home with my children with a refrigerator and freezer filled with food that didn't spoil and electricity so I can type this.  I almost feel strangely guilty for feeling fortunate.  And I worry for our world.  If you weren't concerned about global warming before this freakish and unbelievable storm - I hope you are now!

I worried what would happen if we lost power - or, rather, WHEN we lost power.  We rely on a microwave and a refrigerator for Gavin's pureed meals.  This morning we were still without power - and before we opened our refrigerator we had to come up with a plan.  We got the boys up from bed and brought them downstairs... and we were seconds away from making a reservation at a Homewood Suites (they have full kitchens) when the power went back on.  Ours was a very small inconvenience. My heart goes out to all the parents out there with special needs children who are dependent on technological devices - ventilators, feeding pumps and more.  I hope that they are able to get the help they need if they are without power.  If you know someone like this - even if they are the neighbor you've never met - please reach out to them if you are able to help!  The panic that goes through parents of kids with special needs or disabilities is hard to describe.

I hope all of you who read my journal are safe.  If you suffered damages to your home or property, I am so sorry.  And I hope that all of us can send our prayers and positivity to those who lost their lives... and those who will struggle to rebuild their lives after this storm.  If you can, please check in here in the comment section or on my Facebook page letting all of us know you're okay.  If you want to tell your story, you have a place here.  And if there is help that you need - post it here and perhaps someone can help you!

My heart is so heavy today.

Sunday, October 28, 2012

Storm of the Century!...

Thank you for the kind and supportive comments and emails many of you sent my way after my last post.  It has been an overwhelmingly stressful month.

Last week, Ed had his first business trip with his new company. He hasn't had to travel since he started with them about a year and a half ago.  He was gone for about three days and I had forgotten just how much I miss him when he's away!   Gavin definitely missed his Daddy. 

They are such good buddies!  

And Brian was SO excited when he got home - especially when he saw that Ed brought him a big Wegman's truck!

This boy loves Wegman's.  He has been filling up the truck with his play food and delivers it to each store.

This weekend we attended a first birthday party in our costumes!!  Our friends, Drew and Melissa (remember her beach themed baby shower??) celebrated the fastest first year on record for their sweet son, AJ.  We all had a great time.

I made the executive decision to not keep Gavin in his wheelchair and I let him down to explore the house and play with the toys that were out.  Drew and Melissa have pets, which were upstairs and away from everyone, but I hated to hold Gavin back from the fun.  Turns out I made a bad decision.  Within a half hour or so, Gavin's face and neck were filled with welts and his eye was puffy and swollen.  I felt horrible!!!  Our first thought was - we all need to go.  But I turned and looked at Brian, who I knew was so looking forward to cake and games and presents, and I couldn't do it.  Ed was the hero.  He took Gavin home (5 minutes away!) and gave him a bath and some Benadryl while Brian and I partied it up.

Watching Brian at the party got me emotional several times.  It was the first time he ever played "birthday party games" like swinging at a pumpkin piñata... 

being blindfolded to play "pin the face on the pumpkin" and more.  He listened to the instructions and waited his turn and was so excited to decorate his own "goody bag."  All totally typical things, so you're probably wondering why I was so emotional.  But that's just it - it was all totally typical.  I don't take that for granted.  Not one bit.

Today has been spent getting ready for what they are calling the "Storm of the Century."  Hurricane Sandy.  Thanks to Hurricane Irene last August, I'm feeling a little more prepared!  Oh man - how could we forget Hurricane Irene.  We had to turn around at the airport and cancel our trip to the Bahamas.  Then we had an earthquake.  Then we decided we'd drive to Ocean City, Maryland... only to be evacuated because Irene was about to arrive.  We got home - and she did arrive.  And flooded our basement.

They are telling us that Hurricane Sandy will be worse than Irene.  Ed worked all day to bring in all the outside furniture - put the grill in the garage in case we need it to cook - move things in the basement in case we get water - and transfer all the freezer food to one big freezer in the basement.  We feel pretty prepared.  The only major thing we worry about is Gavin.  We need a microwave to heat up his pureed food!  Ed has the local Hilton on speed dial.  Just in case.  He was definitely the superhero today!

I was no help at all.  I woke up in crazy pain.  My knees were throbbing... my muscles and skin were burning and tender... my hands and wrists were barely functional... even my shins hurt.  My shins!  What's that about??  I'm praying - hard - that I will start to feel better soon.  Dr. Trish is making headway with me - but she has a big ol' mountain to climb.  And in a few weeks I'll be starting the IV infusions of Orencia.  Something has to give - I really need to start feeling better.  I can't imagine that it can get any worse!!

If you are in the path of "Sandy," please be safe!!

Friday, October 26, 2012

A Lot to Wrap Your Brain Around...

The last three weeks have been hell for me.  It was on October 4th that I got the call about Gavin's Exome Sequencing results.  Since then, it's been scary... frustrating... confusing... and a whirlwind.  I'm finally ready to tell all of you what has been happening.

First, I want to tell you that Gavin is fine and nothing has changed - or will change in the near future!  My quest for a diagnosis for him has been consuming, but not overshadowing my primary purpose here on Earth as his Mom.  That will never change, regardless of what may come.

It came up in the results that Gavin could have a rare form of Muscular Dystrophy.  It is called Congenital Merosin Deficient Muscular Dystrophy.  Of course the first thing I did was google it and thought, there's no way.  It just didn't seem like Gavin.  But then I got in touch with a friend who's son has another type of Muscular Dystrophy and is a wealth of information... and contacts.  She put me in touch with Anne Rutkowski, a doctor out in Los Angeles.  She has a daughter with CMD and started the website Cure CMD.  She was gracious enough to talk to me on the phone for quite a while - and we have been emailing each other back and forth since.  I told her that it looked like most kids never gain skills - like sitting up or walking - and Gavin has!  What she told me is that there is a range of signs and symptoms.  Some kids never gain skills...and some do, only to progressively lose them.  Either way, the prognosis is not wonderful. She examined Gavin's test results, we talked about his symptoms and features and she gave me a lot of advice.  We agreed that there was a check next to every symptom for Gavin - the only thing that was not checked was a CPK blood level which was pending.

In the meantime, Gavin's genetic team set up an immediate appointment with his neurologist and a neuromuscular doctor for the following week.  While we waited for the appointment, Gavin had blood drawn to check his CPK - and it came back normal, which caused everyone to pause.

We finally met with the doctors and discussed what our next steps should be.  It was discussed that Gavin really needed an updated MRI - his only one was from infancy.  And to really determine if Gavin has CMD, he should get a muscle or skin biopsy.  But we all agreed that putting Gavin under anesthesia for these tests was, as you know, quite risky.  We had to be sure it would be worth it.

I had done my research online and with the help of my friend ahead of time and found out that the expert in the country for not only CMD, but many neurogenetic disorders, was at the National Institute of Health.  His name is Carsten Bönnemann.  I went into the appointment at DuPont with an impassioned speech prepared.  I was hoping that they would refer Gavin to Dr. Bönnemann or, at the very least, ask him to take a look at all the test results.  I never had to show off my persuasive skills, though.  The neuromuscular doctor said, "There's a doctor at NIH that I'd like to check in with - to see if he'd be willing to look at Gavin."  I nearly fell on the floor.

We also discussed Gavin's results beyond CMD and his Neurologist brought up something that he thought we needed to pursue.  The exome sequencing is a nuclear test - it tests the nucleus of the cells, but not the mitochondria.  He thought that Gavin also had signs of Mitochondrial Disease.  If you google that, you'll find a range from living into adulthood to tragic endings.  Don't google it.  When I left the neurology department with Gavin, we had three plans in the works.  The first was more blood and urine - which I did with him immediately.  The other was that the neuromuscular doctor would get in touch with Dr. Bönnemann and ask if he would see Gavin.  And also, based on the blood and urine from that day, would get back to me if she thought we needed the MRI or biopsy.  And they were going to check with the genetics lab at Baylor - the ones who did his exome sequencing - to see if they could test the mitochondria.

Days went by.  Then a week.  It is very hard to be the parent (or the patient!) during this time.  You realize that there are lots of other children under their care that have equally important issues to tend to... but it's hard.  Doctors have lots of patients to think about - but I only have one to obsess over.  It's really difficult to be patient.  So, I decided to take matters into my own hands.

I looked up Dr. Bönnemann's genetic assistant and sent her an email "from a desperate Mom."  She wrote back immediately with her phone number and talked to me for a half hour about Gavin.  She told me the doctor was out of the country, but assured me she'd earmark Gavin's information for him to see.

Days went by.  Then a week.  The agony, I can't tell you.  I just wanted someone to let me know what was happening... if anything.  I needed a plan.  You can't dump information like this in our lap and expect me not to act on it.  I'm telling you, being a parent in this situation is so difficult.  But I continued on with every day... school and playing and loving and all that good stuff.  But my body was revolting from the stress and it was not a surprise to me that I felt like I was hit by a truck.

I heard from Gavin's geneticist that Dr. Bönnemann had gotten back to the neurmuscular doctor at DuPont that he'd be willing to see "the patient" she had asked him about.  She blacked out Gavin's personal info so he only saw "Patient" without a name.

Days went by.

I contacted Dr. Bönnemann's assitant again.  "Me again!"  I explained to her that I was trying so hard to be patient, but I needed to know if and when something was going to happen.  And I told her that Gavin was the patient who he had agreed to see.  I explained that we'd pretty much drop everything to head to the NIH.  She got back to me that afternoon.  She and Dr. Bönnemann had come up with a plan.

The two of them had come up with a plan!!!  Hallelujah.  The thought of the two of them discussing Gavin for a nanosecond brought me to tears.

Getting in to see him at the National Institute of Health is very difficult.  I knew this.  People come from all over the world.  There is a waiting list and it's not uncommon to wait over a year.  But they came up with a wonderful solution.  Dr. Bönnemann wants me to bring Gavin down to Children's National Medical Center in Washington, D.C.  He works closely with experts at that hospital and attends a clinic there once a month.  They gave me a contact there, a nurse practitioner who happens to be highly sought after and respected in this field.  She would be in touch with me to get ALL of Gavin's medical records (5 years worth) and would arrange for me to come on a day in December when Dr. Bönnemann will be there next.  She was in touch with me less than a half hour later - and I've already arranged for DuPont to ship all of his medical records ot her.

So, not only will Gavin be seen by a whole set of fresh eyes - experts in neurogenetics and rare disorders - but he'll get to see Dr. Bönnemann, too.  

It's all pretty scary.  And nothing is official as far as a diagnosis yet.  The stress, for me, has been overwhelming.  I know a lot of people will find that hard to understand.  A diagnosis won't change much - I've written about that plenty of times.  But a diagnosis will change everything at the same time. There are some diagnoses that have a shortened life expectancy - like certain types of muscular dystrophy and certain types of mitochondrial disease.  I want to know that.  And there are certain types of diagnoses that have suggested treatments and ways to help my sweet Gavin.  I want to know that, too.  Neither of these have a cure...and both are progressive...but my goal has always been to give Gavin the best life possible.

The main reason a diagnosis is so, very important to me?  Truth?  It's because for the last five years the idea that somehow I did something to make Gavin this way has eaten me alive.  A diagnosis might suck the wind out of me, but it will also allow me to begin breathing again.  That may only make sense to me.  It's just one of those things that is so, very important to me.

It is still uncertain whether we will get the MRI.  It would help if we had it before the trip to Children's National, but it's such a risk.  Meganne, the nurse practitioner from the hospital, told me we can hold off until they get all the medical records and look over them.  It may help them with the decision.  So now we wait.  And pray.

It's a lot to wrap your brain around.  It's the reason I've found it hard to write.

Thank you, as always, for loving my son.

Wednesday, October 24, 2012

The Marathon Man...

If I haven't mentioned this before, we love Miss Sara.  She has been an extraordinary helper to me, Brian and, most importantly, the best buddy to Gavin.  Not to mention, I really enjoy hanging out with her - we laugh a lot!
Sara is a runner and likes to do marathons.  Lucky for her, I don't hold that against her.  She did her first marathon this past April.  The morning of, she posted the following photo on her Facebook page...
...and wrote this:

My inspiration for today's race -- Gavin. Every time I look down at my hand today, I'll remember all the times, especially in the past few days that he has used it to try to walk by himself or stand on his own, and just the thought of that will get me through another mile. There is no doubt in my mind that one day, with his determination, he will be running right alongside of me. 

 I know you're reaching for a tissue right now.

Fast forward to now.  Gavin is doing so well walking using his walker or holding onto our hands.  He is often seen cruising the hallway at school in his walker!  So, Miss Wendy (physical therapy) and Sara came up with the idea of tracking his progress.  When Gavin walks from his classroom down to the end of the hall and back, it's a tenth of a mile.  They are going to chart his progress until he reaches "half marathon" status.  Wendy asked Sara to come up with a creative chart, and this is what she did!
The "0429" is the date of her first marathon - the one where she wrote Gavin's name on her hand.  Full circle.  He "helped" her get through her marathon... and now she will help him.

I'll wait.  Go ahead and reach for that second tissue.

Gavin and I have been training at home with his shopping cart.  He pushes the cart while it's filled with heavy cans of Pediasure.
I'm not sure who is getting the harder workout.  Gavin - who likes to walk so fast he's about to run - or Mommy - who struggles to walk backwards videotaping and photographing and trying not to get run over!  Whew!  Take a look at how the little Marathon Man is doing...
His progress amazes me every day.

And finally, for those who may be down in the dumps or going through a tough time right now - I have a temporary remedy for you.  Last night, while I sat in bed, I listened to this on Gavin's monitor for about a half hour.
You're welcome.

Monday, October 22, 2012

My Social Caterpillar...

I love this time of year.  The mornings are crisp, but not freezing.  The afternoons warm up a bit.  It's great sleeping weather.  And the changing leaves - if you live in my neck of the woods - are just beautiful.  The only downside to all of this?  Trying to figure out how to dress your kids!  They are definitely warm enough leaving for school...

...but sweltering at times on the way home!
I wish this was my only dilemma in life.
Each morning when I drop Brian off in front of his school, I stick around for a few minutes to observe him.  One thing they are working on (one of the reasons he's still in group speech) is peer communication.  He tends to be a little shy at first and gravitates to adult interaction.  They have noticed GREAT improvements since the summer.  He's had moments when he'll approach a friend and ask them to play, which is huge.  It's so funny to hear that he's so shy when he's the complete opposite at home!  But I guess that's the story with a lot of little ones. (And big ones!)  Watch this video of what happens when he is in a social situation.
 I stopped the video - but what happened after is that he ran up to be closer to the teachers.  I think it intimidates him to run up to the group of kids - even though they are all his friends from class.  I know that he warms up, though, because the ride home from school is filled with stories about what he did with each of his friends.  As it turns out, Brian will likely be the oldest in his all of his classes because of his December birthday.  If his shyness continues, this may work in his favor!  

Today when we got home from school, we had a great time playing in the back yard.  We conquered Tee Ball...
 We played "King of the Castle" on the playground and pretended we were pirates...
And Brian cracked me up doing "Pratfalls" on the slide.  I tell you, this boy is destined for the stage and screen.
Before we knew it, it was time to pick up Gavin and Miss Sara from school.
They were both a MESS! During craft time, they worked with shaving cream and glue and Gavin flung it everywhere... including all over Miss Sara's beautiful clothes!  Whoopsie!!!  The great thing about having Sara there with Gavin - let me rephrase - ONE of the great things is that she can make sure his eyes are protected as much as possible.  We are always SUPER careful about his eye and although we can tell everyone's nice to know Sara is always right next to him.  She said today they had a close call with shaving cream and glue on his hands getting close to getting in his eye!  She's quick on her feet, though, and the crisis was averted.  Whew!

After Sara left, the boys and I played at the art table, read books and had dinner together.  Ed is away on a business trip which means I could eat early with the boys which was such a treat!!  It was fun for me to watch Gavin and Brian playing together at the art table.
Brian was trying to engage Gavin in everything he was doing.  "Gavin, here's a crayon!"  "Gavin, want some Play-Doh?"  "Gavin, do you like my picture?"  I wanted to was so sweet.
Someday, Gavin will answer him.  I just know it.

I just know it.

Sunday, October 21, 2012

A Perfect Fall Day...

We took the boys to a local farm this morning to pick pumpkins and have ice cream for breakfast and pose for pictures and get up close to farm animals!  I have all the photos to prove it.  It was a picture perfect Fall day.
We went to a new orchard this year called "Milky Way Farms" and it was really adorable!  
Ed brought the Tripod and we attempted a family photo - not bad for holding two squirmy kids!
One of these *could* show up on our Christmas card. Do me a favor and act surprised when you see it?
We lucked out when Brian said "No, thanks!" to the question, "Do you want to go on a hayride??"  I really don't think Gavin could have handled it with his allergies.  So we picked pumpkins for the front porch instead.  Brian, as it turns out, is a great pumpkin picker.  Who knew?
We also went to the neighborhood Halloween party.  The boys had a lot of fun!  Brian had candy for the very first time.  Ever!  Yes, ever!  And he played lots of games and met some new neighbor friends and raided the snack table.  I was reminded today why I'm SO grateful that I don't have food allergies to deal with anymore! But you won't be seeing ANY of those photos.  I decided not to reveal the boys' costumes until Halloween.  Sorry!  I'm pretty sure it will be worth the wait.

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