Thursday, February 9, 2012


I know, I know...5 months with no update.  I have a million reasons why but the fact of the matter is...I can't get my thoughts straight.  So, before I start gushing about what I have been and am currently feeling over the last 5 months, I guess I'll start with the logistics of what's been going on.

Houston was an okay experience.  We first met with the geneticist.  Overall, great appointment.  We were treated well and really liked the doctor.  Unfortunately, I left with many more questions than I came with.  It's just all so confusing.  I am coming to the realization that Chase's condition has a lot of gray area.  To hear a very well trained specialist say that there is a good chance we will never find out why Chase has what he has or where it came from is a bit frustrating.  He talked about several genetic tests and muscle biopsies we could run but ultimately, he thinks we should bypass all of those tests and just decode his entire genetic makeup.  The catch is, it's EXTREMELY expensive, and there's a good chance the test still won't reveal where the mutated gene came from.  Knowing why or where his heart condition came from will never change the severity of his condition.  It won't create some sort of cure either.  What it will do is allow the rest of us to be tested for that particular mutated gene to determine if we are carriers.  My other 3 kids had echo's and ekg's soon after Chase's diagnosis and show no signs of hypertrophic cardiomyopathy, but they will still need to be tested every couple of years because they could still be carriers.  So, for now, we've decided that we will eventually do the full human genome sequencing but we are going to wait.  5 years ago, the test cost $40 million.  They've come a long way since then (about $10k now) and have made some amazing technological advances.  They improve the test every year, so we are going to drag our feet so we could save money and hope that we will get better results by waiting.

Just a little over a month ago, I was blindsided by the news of a young man, only 18 years old, that passed away of the same heart condition Chase has.  Click here to view the story.  I just happened upon the story one day as I pulled up my yahoo page.  As I watched Ben Breedlove share his story through handwritten cards, I felt like I stopped breathing.  I remember having to remind myself to inhale and exhale as his story unfolded.  As I learned more and more about him and what he'd been through in his life, I felt such sadness yet such hope at the same time.  He grew up and lived only 15 minutes from my house.  I stumbled upon that video only hours before his funeral would air on the internet.  He was such a great example of someone that was able to live a happy, fulfilling life regardless of his heart limitations.  Every time he'd crack a smile during the video, I felt so much peace.  Such a heart wrenching and inspiring story.  Just a little too close to home.

Okay, now for spilling guts.  I still remain an emotional roller coaster.  I am learning to accept the fact that I probably always will be.  Most days, I deal with it just fine, but every now and then I find myself tearing up at the most random moments.  The hardest part for me is the uncertainty of this disease.  For the first time in my life, I'm pretty darn scared of my future... of Chase's future.  I have learned over the past couple of months that throughout Chase's life, it's not a matter of "if" he has a life threatening heart moment, but "when."  Most kids with his same condition have several incidences before they get through their teenage years.  I just don't know how to wrap my brain around the fact that there is a very good chance I may see my son collapsed on the floor, not knowing if he'll live or die.  I'm sorry if that sounds morbid, but it's what haunts me every day.  The thought is always hanging in the back of my mind.  I never dwell on it because it just makes me sick to my stomach, but I'm trying to learn how to cope with the fear.  The anticipation is what eats me alive.  I understand that anyone could pass away, at any time...but living with a child that has a "severe" risk of cardiac arrest is debilitating.  It's been nearly 9 months since we found out but it's still so fresh in my mind and heart.  I'm trying to let go...but something is holding me back from just accepting that no matter what happens, we'll make it through.    

The good news in all of this is that regardless of my fears, I have been able to enjoy him so much.  I hold back absolutely nothing when it comes to loving Chase.  Or any of my children for that matter.  My kids KNOW how much I love them.  Yes, they drive me nutzo's at times, but I just love them.  I know my Heavenly Father is watching out for our family.  I can feel it in the details of our lives.  I know my Savior is carrying me through this trial.  No other soul knows exactly how I feel.  I find comfort through Him.  It's the only way.

As for Chase, he's definitely making progress.   He sees multiple therapists that come to our home each week.  My favorite is his physical therapist.  It's been a long road over the last 7 months in therapy getting him to this point, but he is finally starting to take his first steps at almost 22 months old.  He's been wearing braces on his ankles that prevent him from locking his knees.  We have learned that his low muscle tone has affected his ability to weight bear and has really slowed his physical development.  He is pretty significantly delayed both cognitively and developmentally but I have come to realize through it all just how hardworking a motivated such a little guy could be.  Chase is bursting with personality and makes me laugh every day.  I've never seen a child his age so intense in the way they approach life.  I just adore him.

Chase working with his Physical Therapist