Platform...

There's not much I wouldn't do for my children.  Gavin in particular who, let's face it, kind of got the short end of the stick in our family with all the things he has to deal with.  Over the years I've hunted down specialists... researched therapies and syndromes and supplements and more until the wee hours of the morning... we put a Hyperbaric Oxygen chamber in our living room... we've taken Gavin to shrines and Shaman healing ceremonies... I've brazenly hunted down doctors and specialists online and convinced them to help us... I truly could go on and on.  Many of the things we've done have helped tremendously.  But there is still one thing that continues to seem out of reach.

A diagnosis.

It's a very helpless feeling to not have a diagnosis.  In the short run, a "title" for Gavin's collection of features and behaviors and medical issues wouldn't change anything.  It wouldn't change how we treat him, feed him, love him, and work with him.  But a diagnosis could change everything in the long run. A diagnosis may tell us that Gavin's life span is significantly shorter.  It could tell us how to plan for his future in a more appropriate way - financially, medically and emotionally.  And it would be a huge factor in deciding long term care - if we were to pass away before him.  These types of issues are rather overwhelming if I let myself go there - which I don't very often.

Insert this "Parents Magazine Blog Competition."

Before this competition, the blog had a slowly growing group of followers that quickly feel like friends.   That's just how it is around here - a bunch of friends.  (Well, except for the occasional meanie or troll which, luckily, I don't encounter too often)  Since I was nominated by the editors of Parents Magazine (which still shocks me!), the amount of traffic I've received has been incredible.  And when one of the other women in my category, Glennon Melton from the wildly popular blog, Momastery, generously endorsed Chasing Rainbows... even encouraging her readers to vote for me... it practically crashed my site.  The traffic had me thinking of one thing...

A diagnosis.

What if - regardless of whether I "win" this competition or not - I was able to gain increased international exposure for Gavin.  What if I used this competition as a platform - and worked my butt off to get people to my blog - all with the hope of getting more eyes on my precious son?  And, while doing so, I could bring more people to the page with the list of all the other blogs - in turn, getting more exposure for them!

Each of us write for our own reasons.  Jo from "A Sweet Dose of Truth" writes about her family, including her son's autism.  And right now, she could use some help so if you're familiar with autism, please click her blog name above.  And Deanna from "Everything and Nothing From Essex" writes about her family, including her sweet daughter's Down Syndrome.  Dan from "Single Dad Laughing" has a deeply personal blog that touches on his life with his son, bullying, sexual orientation issues and more.  And Glennon from "Momastery" shares her life so openly and honestly that she changes the world, one person at a time.  I mean that quite literally.  Her blog is a life changer.  The platform we've all been given by Parents Magazine makes all of us winners.  And I've been happy to promote their blogs as I've promoted my own.

We all need each other.  And where else can we put our needs out there and get near instant feedback than the internet?  The increased traffic that I've received... and probably the other candidates have received... may lead each of us to something big.  Maybe it will lead to a professional contact... or a great idea for our children... or a writing gig... or maybe, just maybe, it could lead to...

A diagnosis.

Can you imagine if someone finds my blog somewhere in the world and recognizes the features and behaviors in Gavin?  Maybe their child - or one of their patients - looks and acts the same way and has had a similar history.  Sometimes those kinds of random connections can accomplish what the medical world has been unable to.  You just never, ever know.  

(You can find an entire post devoted to his genetic history here!)

I've never "promoted" my blog anywhere before.  It never really occurred to me!  But this competition suddenly gave me a reason to put myself out there.  Put Gavin out there.  Asking for votes for the competition felt better than saying "Can you come read my blog?"  Now it felt like asking for votes may lead to more exposure for Chasing Rainbows which, in turn, could lead to connections which, in turn, could someday lead to...

That diagnosis.

So, I've been begging on Facebook.  And I've been taking to Twitter.  I've tweeted celebrity after celebrity to bring them to the Parents Magazine Voting page.  Celebrities are generally wealthy and have access to the best of the best.  It is possible that one of their connections may lead ANY of the candidates in the competition to something important!  Or, when they retweet my tweet for votes, any of their followers could find my blog.  It's a long and winding road through people to find my one elusive thing.  A diagnosis for our son.

It's also been a little fun, I'm not going to lie.  I'm a big Bravo fan - and love the Real Housewives franchise.  I've had support from Kyle Richards (Paris Hilton's Aunt!), Yolanda Foster (David Foster's wife!), and Camille Grammar from Beverly Hills... Carole Radziwill (Jackie O's niece, Mom!!), Heather Thomson and Aviva Drescher from New York... Caroline Manzo, Jaqueline Laurita and Rosie Pierri from New Jersey... Lea Black from Miami... Tabatha Coffey from the show, "Tabatha Takes Over"... and I also got support from one of my favorite bloggers, CJane Kendrick.  (Love her)  Oh, and I got a random, shocking follow from Kevin Costner.  Not sure why - but cool, right? 

So win... or lose... it really doesn't matter.  I am beyond thrilled to be nominated, especially in the company of the other bloggers.  And if, years from now, it was the Parents Magazine Blog Competition that was the springboard we needed to get Gavin a diagnosis... I will be eternally grateful.  

There's really nothing I wouldn't do.  Including tweeting Snooki.  Oh yes, I did.

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.

As Long As It's Healthy...

We've all heard the phrase...and maybe some of you have even uttered it...

"As long as it's healthy!"

Usually this comes up when a woman is pregnant.  "Do you know what you're having?  A boy or a girl?"  and the Mother will reply, "I don't.  And I don't care - as long as it's healthy!"

For some reason, this phrase has always tugged at my heart...even LONG before I had children of my own.  

Everyone wishes for a healthy baby.  Of course they do.  The phrase, in itself, is not a rude thing to say.  It's become a universal catch phrase - and the intentions behind it are more ill-thought than ill-intentioned. We all wish for ourselves...and each other...and for the unborn baby...health.

But what if we don't get what we wish for?  What then...

Today is the first ever "World Cerebral Palsy Day".  It's a day that focuses on people with CP from all over the world.  It's not just a day to bring awareness and education...but it's also a way for people with CP to let the world know how they want their lives to change.  Today I will be sharing private home movies that I've never shared with anyone.  (And I humbly ask for your sensitivity...)

I have been Gavin's "spokesmom" since the day he was born.  I look forward to the day that he can tell me to stop talking for him - that I'm getting it all wrong.  But until then, I will continue to do my part to speak up for him, speak out about him...and change people's perceptions and attitudes.  One person at a time.  Gavin has a diagnosis of Cerebral Palsy, but that is truly a small part of his life story thus far.  If you are a regular reader of this journal of mine, you've already watched him accomplish far more than what we were told to expect.

I never cared for the expression "As long as it's healthy" before Gavin.  But since Gavin's birth, the words have taken on a whole new meaning.  I think, for the most part, the expression is used as a way to stay hopeful during a pregnancy.  Everyone wishes the best for their children and their families.  And we were no different.

This is me...standing in Gavin's nursery...right before we left for the hospital.  Ed thought I was crazy, but I wanted to take a minute to videotape ourselves for the last time as a family of two (and one adorable dog).  We had no way of knowing that I wouldn't be back in that room with my baby for a month...

The universal phrase... "As long as it's healthy"... well, one could argue that didn't happen for us.  The silence and rushing around in the delivery room was a pretty good indication that all was not well.

I signed up to be a Mom.  Just as I wouldn't say, "As long as it's smart." or "As long as it's good looking." or "As long as it's straight."...I didn't say "As long as it's healthy."  To be honest, now that I know so much about genetics and chromosomes and all the thousands of things that could go wrong - I think it's a miracle that any child is born "perfect" or "healthy."

Once Gavin was born, I went right into Mom mode.  I didn't feel disappointed or 'jipped'... I felt protective and concerned.  And love.  Although to this day I am haunted by this particular moment caught on film.  I told Ed all through the pregnancy that I wanted a photo of Gavin in the delivery room.  He took his job seriously and asked the nurse before Gavin was whisked to me and then to the NICU.  I should have told him to forget it.  I should have said to the nurses that I could meet Gavin later.  Keep the oxygen on him, I should have said.  I wonder if, in my selfishness for a hello and a picture, I deprived Gavin from time without the oxygen.  I have been reassured a million times, but it's one of my biggest regrets.

As Ed and I spent time in the NICU that would become our home, we were overjoyed getting to know our son.  Ed had never held a baby that small - or changed a diaper, ever.  He jumped right in and did it all.  He even gave Gavin my colostrum as soon as it came in.  We called it "Liquid Gold."

I spent a lot of time doing Kangaroo Care and pumping breast milk so he would grow and get stronger and get closer and closer to going home.

For all intents and purposes, Gavin was many people's worst fear.  Can you imagine?  People who would say, "As long as it's healthy" didn't mean this.

So to all of you who are pregnant I say - don't be afraid to be me.  And to all of you who are sitting in the NICU next to an isolette - praying that they will tell you that your baby is fine - healthy - not 'imperfect'... don't be afraid to have a Gavin.  And to those of you who just got the diagnosis - Cerebral Palsy.  Do not despair!  Gavin, as many of you know, is the joy of our lives...and many others.  He is in many ways just like other kids his age!  He has favorite foods and favorite movies and favorite books and songs.  He loves crazy amusement rides and the ocean.  He adores his Daddy and his little brother.  He is now making friends and riding a bus to school.

When we sign up to have children, we aren't guaranteed anything.  They could be born with a disability or develop one years later.  They could be born with a defect or develop defects of character as adults.  They could be born in perfect health, or have a serious illness.  The important thing is - they are ours.  

We left Gavin's nursery filled with hope on September 28th, 2007.  We welcomed him into the world with hope on September 29th.  We brought him home for the first time on October 28th, 2007 and the three of us (and one adorable dog) learned together how to navigate our new world.  And then six days before Gavin's first birthday, we were told he had Cerebral Palsy.  But what did that mean, exactly?  Nothing much, really.  It sure didn't change the way we were caring for him up to that moment.

When I stop to think about that silly phrase, "As long as it's healthy," it kinda makes me sad.  Because if I had wished for that...and my wish had been granted...none of us would have the honor of knowing Gavin.

 That - and not a diagnosis - would be the biggest tragedy of all.  

Wouldn't you agree?