Good genes, bad genes

Whoa ... bad blogger alert! So sorry for not posting this sooner.

Will a few cute pictures of Ethan make up for his mama's slackness?


Whew. Glad I could redeem myself.

As I mentioned in my last post, I recently talked to our genetic counselor regarding some test results. (I'm glad y'all enjoyed that video, by the way!)

Back in November, when Ethan was inpatient at Duke following a surgery, a blood sample was taken to test for a second genetic disorder. This is the post I wrote back in October, explaining the results of the first round of testing and the reasoning for further investigation. Definitely re-read that post if this isn't making sense to you. (The disclaimer still applies!)

The short of the story is that this second test has come back negative (read: no SALL4 mutation).

This is good news. Sort of.

The long version is that Ethan has now tested negative for TBX5 and SALL4 mutations, but we know something is going on in that body of his. With negative results from both tests, there's no way for anyone to test Jeramie or myself for anything; they wouldn't have any idea where to look! And, other than TBX5 and SALL4, there's really nothing else they can look for in Ethan.

However, continuing with the long story, our genetic counselor told me there is another test that can be performed to check for a TBX5 mutation. The lab who did the original TBX5 testing is not capable of performing this second test (hence, why it wasn't done in the first place), but the lab who tested for the SALL4 mutation is.

Still with me?

So, genetic counselor calls Lab #2 who, I imagine, checks in the fridge beside the bottle of Gatorade, and determines that they still have enough of Ethan's blood to run this test, and agree to do so.

This whole thing just seems so crazy to me. I mean, my child's blood is just hanging out in a lab somewhere in Maryland, and these super smart geneticists can lay the super-smart-smackdown on a sample of it, then tell us what is or isn't wrong with it.

It really blows my mind if I think about it for too long.

So now, in about five weeks, we should have the results of this second round of TBX5 testing. Once these results come back, we will have done everything genetically possible, at this time, to figure out what's going on with our sweet boy.

If negative, Jeramie and I will move forward with knowing we have a 1-4% chance of passing whatever-this-is along to a second baby. If positive, we will undergo genetic testing of our own to see if that chance is any higher.

Pray for us. I feel like the thought of adding another child to your family can be stressful, just based on principle. Add on the fact that we could be passing along some potentially life-threatening genetic disorder, and it's enough to make you crazy.

We would love some answers. But, then again, if we knew all the answers how often would God find us coming to Him, just trusting that His ways are better, His timing is perfect, and His knowledge is more than we can fathom?

Prayers

So, I have a genetics update that I need to post before I forget all the information, but I haven't typed it all out yet.

In the meantime, I thought I would share another video with y'all.

Lately, Ethan has really been into saying his prayers. This afternoon, I caught him in mid-snack, wanting to say the blessing.

The head tilt and closed eyes are a new, hilarious, development.

Enjoy!

Every Heart Has a Story, Part II

Today I, along with many other heart families, will be taking part in a blog event hosted by Stefenie. This is the second event she has held on her blog and is entitled "Every Heart Has a Story - How CHD Affects Your Relationships". If you've just started reading here, or if you need a refresher course, feel free to go back and read my post from the first blog event.

Just being honest here, this is not an easy post to write. Congenital Heart Defects, first and foremost, have stolen my son's innocence and tattooed his body with scars. I can't even pretend that his broken heart is all about me.

With that said, being the mother of a child with a chronic illness, and the special needs that follow, will ultimately change the way you interact with others around you. It can be good, it can be bad, and it is bound to be ugly at some point. I intend to share all of that with you today.

For the sake of ending on a high note, let's start with...

The Bad:

The moment Jeramie and I stepped into Ethan's room to lay eyes on him after his first open heart surgery, we knew we were different people. You cannot stand over your child's hospital bed, watching their heart beat inside of their opened chest, and walk away not feeling changed in some way.

For me, it was a sense of gratitude and appreciation that I never knew I could feel for someone or something. Now, you may be thinking, "I thought we were talking about bad stuff right now; that sounds pretty darn good to me." Just stick with me...

All of a sudden, on Ethan's 3rd day of life, I felt like I would do absolutely anything to see to it that my baby would come to know me, despite his awful beginning. Wake up all hours of the night to pump, because it was the one thing I could do for him? Absolutely. Cry tears of joy when the nurse asked if I wanted to change his diaper? You bet. Sing and read to him, believing that he could hear my voice through his medically induced coma? You better believe it.

And, that was just the "easy" stuff.

As my arms were aching to hold my child, and everything within me so desperately wanted to care for him, I began to develop a very short fuse for parents who didn't seem to feel the way I did. I would read things on Facebook, or hear friends talking as if being a parent was some sort of burden, and I began to harden inside.

"How dare they complain about their child waking up in the middle of the night, as I sat in an ICU room begging mine to open his eyes?" ... "Didn't they realize how lucky they were just to be allowed to pick up their child to console him/her?"

Even after we brought Ethan home from the hospital, my zest for his life, as well as my annoyance with others, continued. In fact, I believe it was heightened. I repeatedly allowed comments to get the best of me, even if they weren't necessarily directed towards me. It didn't take long before I found myself becoming more and more bitter towards various people in my life.

Eventually, friendships were strained and I pulled further and further away. As if having a chronically ill child is not stressful, lonesome, or exhausting enough, I found myself trying to do it without the support of friends. It seemed like I was constantly being let down, offended, or disappointed by this person or that person, so I gave up. I relied on two or three friends, my husband, and our family and shut out the rest.

Instead of going to the "offenders" and having an honest conversation with them, I kept it all bottled inside. It stayed there for a little over 18 months, until I finally confronted one area of hurt feelings. And, let me tell you, it was not pretty.

The Ugly:

It was obvious to a few of my close friends that one particular relationship in my life was severely breaking down. Out of respect to that person, and to the healing that has taken place in the past few months, I will not rehash our conversation.

Instead, I will tell you that both myself and my friend have learned a lot about ourselves since talking that one night. It is not easy to sit across the table from someone and admit where you screwed up. It is much easier to point fingers, place blame, and get into the "should-a, could-a, would-a"s. And, not only is it easy, but it's pretty much inevitable that someone is going to raise their voice, and something else is going to be said to cause even more hurt.

All of the above happened during hours worth of conversation, but it was so necessary. We each had things that needed to find their way out of our ugly, hardened souls, but it has absolutely made all the difference.

The Good:

For the sake of continuing the story I have started, I will tell you that God is in the midst of restoring that broken friendship.

I'd say that's pretty good, wouldn't you?

Actually, I just told that friend yesterday that had this post been written a year ago, y'all would be reading a much different story. It would be full of packed-tight bitterness, anger, and hurt. I would still be pointing fingers, placing blame, and yet to realize how much my own junk was getting in the way. I am thankful that there is so much good to be found in honesty, forgiveness, and love.

But the goodness doesn't stop there. Let's go back to Ethan's first few months of life for a minute.

After Ethan was born, and the diagnosis was made, our church community immediately sprang into action. Before we knew it, we had places to stay, money to buy food, and parking passes for the deck. There were also people who came to the hospital at a moment's notice when things took a turn for the worse. Friends sat in the waiting room, on multiple occasions, and for long, grueling hours.

I don't say all of that to brag about what was done for us. I say it because I have never seen God's Kingdom come to Earth, and His children live out Romans 12, as I did in those dark months after Ethan's birth. God used so many people during that time to continually remind us that He was still good. He is still good. I don't want to think about what my faith in Him might look like today had it not been for seeing and feeling Him at work in our life through the lives of others.

Thank you for that.

Our family has also been so very good to us. You would think that would be a given; they are family, after all. But y'all don't know how many people we saw sitting in waiting rooms without the support of their loved ones. I will be forever grateful for everything they have done for us, and continue to do, and for the way that Ethan's tiny broken heart has tightened all of our bonds.

Where I Am Today:

Like I said earlier, I have learned a whole lot about myself during the past (almost) 2 years! Those realizations have helped me understand that, just because my son was born with a CHD, people weren't automatically bad friends. It's my responsibility to realize what bothers me most about his condition, identify the triggers from others, and then deal with it.

(Side note: I do not think that gives people a free pass to say what they want, though! I believe there absolutely should be sensitivity and compassion when talking to someone with a chronically ill/special needs child, especially in those emotionally heightened beginning stages.)

I am now at a place where I feel like I'm ready (and wanting) to enter into the typical stay-at-home-mama world. You know, the place where I can talk about preschool and play groups, and what to feed my child for lunch, without feeling like tears will erupt because I don't know if my child will make it to ever do those things. That fear still creeps in from time to time, but I choose to remain present; to not focus on the "what ifs" but to be thankful for what is.

However, it seems as if my sensitivity during Ethan's first few months of life has kept others from really opening up to me in that way. I remember when Jeramie and I were sharing our story during a series at church. We were going to talk a bit about how our relationships with others had been affected, much like this post. As we were going over what to say that Sunday, our pastor said, "Now, you know that after you say this, people are going to be afraid to say the wrong thing, so they probably won't say anything at all."

Boy, was he right.

There are times I feel like people are afraid to talk to me. It's as if they're scared to ask how I'm doing and wait around to hear an honest answer. I'm still trying to figure out if that's because of some defensiveness that I'm showing, fear on their part, or both. It means the world to me when someone talks to me, mom-to-mom, friend-to-friend. Not "mom-who-doesn't-know-what-it's-like-to-have-a-sick-child" to "mom-who-has-been-there-done-that", but just real, honest conversation.

It is my current prayer to find more of that here in Raleigh. (Notice I said more. I absolutely have some of that already.) It goes without saying that I have a huge network of support through all of the other heart mamas out there, all across the country. But, aside from a few of those moms who are also personal friends, I can't call them all up for coffee or to go on a walk. The challenge is to find like-minded emotional support from women already in my community, and it is just as i said: a challenge.

Despite all of the hurt feelings, tears, and ugly conversations, I know that God has been shaping me to be the mama, wife, family member, and friend that I need to be. I know that if everyone were to walk away from me today, He would sustain me. But, I also know we are meant to live in community with one another, to support and encourage, to speak the truth in love. I know that we are called to live out Romans 12 everyday, not just when a crisis arises.

I know that I have a lot of work to do to get to that point; how about you?

A Day for Hearts

We love y'all!

Checking In

OK, y'all. Did I really think that my life would remain calm enough to blog every day for an entire week? I mean, really; who was I kidding?!

I'm actually kind of bummed about my absence in the bloggy/Facebook world over the past couple of days, only because I feel like I missed out on some good updates. There has been so much good happening during CHD Awareness Week this year, and I'm hoping to catch up on all of that here soon.

(I did manage to read this post by my girl, Jenn. I think it is a must read for every Heart Mama and Heart Daddy out there.)

So, anyway, why the hiatus?

I'd love to say that Jeramie whisked me away on some romantic getaway, complete with hot stone massages, facials, and pedicures but, alas, that is not the case. Not because he's not good like that, but because we're back up to our ears in snot, antibiotics, and steroids.

Yup. It's baaaaaaaack.

A nasty round of croup, complete with a bloody double ear infection. (And I don't mean "bloody", as in the British expletive. I'm talking literally bloody.)

Needless to say, Ethan hasn't been the happiest toddler on the block and I've not exactly been the most well-rested, mild-mannered Mama. It wasn't until yesterday that he really seemed to get his groove back and that has, thankfully, continued on into today.

Jeramie and I have really dug deep to find our inner frugal-ness during this sickness, too. I made my own cough syrup based on a friend's recommendation, and Jeramie concocted a homemade humidifier out of a ladder and a few wet, hot towels. Y'all, I'm here to tell you, they both worked like a charm!

We've all gotten some good rest the past couple of nights and I'm looking forward to the beautiful weather we're supposed to have this week (75 degrees on Friday?! whoop whoop!). It's time to kick these winter blues ... who's with me?!

I'll definitely be back on Tuesday for Stefenie's blog event: Every Heart Has a Story - How CHD Affects Your Relationships. Be sure to check that out; I know I'm looking forward to it!

Until then...

In the trenches

So, here's the thing about a Congenital Heart Defect: it is a lifelong illness. When someone you know is affected by this monster, your world can go from horrific, to stable, to terrifying, to somewhat "normal" in just a matter of time. One echo, one EKG, or one chest x-ray can change that status and send you back down the road you never wanted to be on in the first place. I've said it once already, and I'll say it again: our babies are not "fixed" with surgery. Their hearts are repaired to the best of the surgeon's ability, but there will always be extra considerations to be taken in the life of a child with a heart defect.

Fellow heart mom, Amy, wrote an amazing post yesterday about why she is so passionate about CHD awareness. Rightfully so, it has received much applause from the CHD community; she puts into such eloquent words what us moms (and dads) all over this country are fighting for!

I'm fighting so that my own son may one day be freed from the burden of multiple heart surgeries, and the pain that inevitably follows. Like Amy said, it may seem strange that we're all so fired up even though our children are doing relatively well. However, it's not just about them.

I'm also fighting for kids like Andrew, Owen, and Jordyn who are all three undergoing cardiac caths/surgeries TODAY. And, that's the beautiful thing about this community; when it's Ethan's turn, I know they (and all of you) will be fighting for him, too.

Please, take a second to visit the blogs for Andrew, Owen, and Jordyn today. Let them know that they've got lots of people backing them up and cheering them along!

We need your support, and your encouragement, to help us find our way out of these trenches that heart defects have dug for our children.

Will you help?

Sharing & Singing

Jeramie and I just got home from an impromptu date night (thanks, Aunt Bubbie!) and I wanted to share this video with you.

Even sick and snotty, this kid is about as cute as can be. And, I think it's safe to say he's a Mama's boy!

Blogs with Heart

There are lots of good thoughts swirling around the bloggy world this week! For today's post, I thought I would share a few of those blogs with you.


re{de}fining: My friend Jenn's blog about her amazing family. I especially liked her "1 in 100" post, and I'm looking forward to reading some of her older entries about her beautiful baby girl, Charlotte.

When Life Hands You a Broken Heart: This is Stefenie's blog that I mentioned on Monday. If you haven't read Jeramie's interview yet, you should. You should also stop by her blog each day this week to read all of the other incredible interviews! Next Monday, she will also be hosting a blog event that I plan to participate in; stay tuned!

Aly Jean's Special Heart: Jenny, mama to Aly Jean, is sharing a story a day of some precious, precious heart babies. Go check them out!

Little Johnson Heartbeat: Tara is sharing her "Heart Momma's Top Seven"; the top seven things she feels she needs to be the best mom to her handsome little dude, Liam.

The Carter Family and A Little Monkey Business: These mamas, Shannon and Jen, are encouraging me more than they know right now! They are both pregnant with baby #2, after having sons with severe heart defects. Shannon just shared some great news on her blog, and Jen recently posted some honest, gut-wrenching thoughts about the hearts of both of her babies.

The Congenital Heart Information Network also has a list of blogs that have registered to participate in CHD Awareness Week; scroll down until you see the heading "Blog Sites".

Happy reading!

Awareness Week: Day 2 & 23 Months Later

Today, February 8th, is not only the 2nd day of CHD Awareness Week, but it also marks 23 months since Ethan found his way into my arms. My baby will be TWO next month, y'all!

In celebration of his 23 months of life, I thought I would share 23 facts about Congenital Heart Defects. I'll start with a few general facts that some of you may already know, but then I'll move into more specific facts about Ethan's defect.

CHDs - An Overview:

1. A congenital heart defect is an abnormality in any part of the heart that is present at birth. Heart defects originate in the early weeks of pregnancy when the heart is forming.

2. There are more than 40 different types of congenital heart defects. Little is known about the cause of most of them. There is no known prevention or cure for any of them.

3. Congenital heart defects are America’s, and every country’s, #1 birth defect. Nearly one of every 100 babies is born with a CHD.

4. More than 50% of all children born with congenital heart defect will require at least one invasive surgery in their lifetime.

5. The cost of inpatient surgery to repair congenital heart defects exceeds 2.2 billion dollars a year.

6. Almost half all children and adults with complex congenital heart disease have neurological and developmental disabilities.

7. Children and adults with certain heart defects, even after surgical repair, remain at increased risk of infection involving the heart and its valves.

8. There are an estimated 2,000,000 CHD survivors in the United States.

9. For the first time, more than 50% of the CHD survivors are adults.

10. Only one penny of every dollar donated to the American Heart Association goes towards congenital heart defect research.

11. Of every dollar the government spends on medical funding only a fraction of a penny is directed toward congenital heart defect research.

12. In the United States, twice as many children die from congenital heart defects each year than from all forms of childhood cancer combined, yet funding for pediatric cancer research is five times higher than funding for CHD.

*Facts compiled from March of Dimes and The Children's Heart Foundation

Ethan's CHD - Pulmonary Atresia with VSD, DORV:

Photo (and descriptions below) courtesy of Heart Baby Home.

13. Pulmonary atresia: [pulmonary=having to do with the lungs, atresia=without openings] a complete blockage of the pulmonary artery (which carries blood from the heart to the lungs) caused by a missing or fused-shut pulmonary valve.

14. VSD (ventricular septal defect): [septum=wall between the chambers of the heart, ventricles=lower chambers of the heart] – holes in the inner walls of the heart allowing extra blood flow between the two lower chambers of the heart (ventricles). This causes the oxygen-rich and oxygen-poor blood to mix before leaving the heart.

15. DORV (double outlet right ventricle): [outlet=passage for exit, ventricles=lower chambers of the heart] – both vessels (aorta & pulmonary artery) carrying blood away from the heart come out of the right ventricle. (Normally the aorta carries oxygen-rich blood from the left ventricle and the pulmonary artery carries oxygen-poor blood from the right ventricle).

16. Out of all congenital cardiac malformations, it is estimated that Pulmonary Atresia with VSD occurs in 2.5-3.4% of the cases.

17. Ethan's surgeon fully repaired his heart at 3 days old with the Rastelli procedure. This involved closing the VSD and surgically connecting a valved conduit between the right ventricle and pulmonary artery.

Click to enlarge

18. Before his first open heart surgery Ethan's life was sustained by Prostaglandin, a drug that allowed his patent ductus arteriosus (PDA) to remain open. (This opening typically closes within hours after a baby's birth. Ethan's life depended on his not closing.)

19. Ethan's conduit will not grow with him. Replacing the conduit was the main reason for his 2nd open heart surgery at 6 months old, and will be the reason for his next one.

20. The successful Rastelli operation at 3 days old should provide Ethan a near normal existence well into his adult life.

21. The major complication of Ethan's Rastelli repair was complete heart block. This means the top chambers (the atria) do not have a pathway to communicate with the bottom chambers (ventricles). A pacemaker was inserted when Ethan was 11 days old to bypass this. It senses the intrinsic beat of his atria, and sends a signal to tell his ventricles to follow. It does not tick, he can be around microwaves, and it's actually located in his abdomen.

22. One half of a baby aspirin is all the medication it takes to keep Ethan's heart working like it should. However, he will be required to take prophylactic antibiotics before any dental treatments to help prevent subacute bacterial endocarditis (SBE).

23. As much as I would like to say it is, Ethan's heart is not "fixed". He has the jugular vein of a cow sewn into his heart; there's nothing normal about that. Because he doesn't show any outward signs of a defective heart (he doesn't turn blue or fatigue easily), it can be easy to think that everything is OK.

So, there you have it. Twenty-three reasons why we absolutely need to continue to raise awareness, which leads to funds, which leads to research.

Maybe one day there will be a fix. Maybe one day we'll be able to save our babies from surgery after surgery. Wouldn't it be great if there was no "CHD Awareness Week", because there were no CHDs?

I certainly think so, but we can't do it without your help.

Do your part. Donate. Dream big.

CHD Awareness Week is in FULL swing!

Hey y'all; happy CHD Awareness Week to you and yours! I'm happy to be kicking off the week with copies of both the NC and the Raleigh proclamations, so it is officially official! This is also the 350th post here on the blog! I guess I've had a lot to say over the past couple of years.

And, this is the perfect week to just keep on going...

My friend Stefenie will be blogging like crazy this week, too! She has interviewed eight heart moms and seven heart dads, all to be shared on her blog over the next seven days. Today, Jeramie was the featured Heart Dad. Head on over to read his interview, as well as Jane's (the featured Heart Mom).

That's all for now ... I'll be back tomorrow!

Motivation

In the spirit of American Heart Month, I've made the decision to finally hunker down and make some changes in my own life. Actually, it only occurred to me today, as I was pulling Ethan in his wagon, that this decision couldn't have come at a more perfect time.

As I mentioned yesterday, my primary focus in February will be raising awareness for congenital heart defects, but I cannot ignore the impact that acquired heart disease has also had on my family. My grandmother (my daddy's mama) died from a heart attack when I was only 3 months old. My daddy himself has basically been in heart failure since I was in high school; he has surpassed the "5 years to live" that the doctors gave him 11 years ago.

And, you know what? I'm next in that line. If that's not a sobering thought, I don't know what is.

I have struggled with my weight for as long as I can remember. In fact, I see pictures of myself as a thin toddler and I don't recognize that girl; I have a hard time believing it's me. Thanks to incredible parents, and friends who always accepted me just as I was, I wouldn't say that I have tons of security issues about my weight; I just know it's not healthy.

When Ethan was born, I felt a drive to lose the pregnancy pounds, and then some. I vowed to become healthy, to make a true life change. I could give you excuse after excuse of why that didn't happen but, the point is, it didn't.

Now, almost two years later, I'm back at that place again. It feels different this time, though. I have an amazing friend who is guiding me through workout plans and the types of food I eat, and she's holding me accountable at the same time. I'm motivated more than ever, and I'm excited about the changes I will see (and feel)!

Did you know that one woman dies approximately every minute from heart disease, and that 90% of women have one or more risk factors for developing said disease? I do not want anything to do with those statistics; I do not want to be one of those women.

The decisions I make now will certainly have a huge impact on my future. Without focusing on my past failures, I am choosing to move toward a long, healthy life. I'm choosing to be a positive role model for Ethan, not some hypocrite who tells him how important it is to be "heart healthy", but doesn't show it in my actions.

I'm choosing to take control of my health, and I hope to be around for a really long time because of it.

American Heart Month

Today, February 1st, begins the month that every President for the past 47 years has proclaimed as "American Heart Month".

(You can read President Obama's proclamation for 2011 here.)

In addition to this, many states have also declared February 7th-14th as being Congenital Heart Defect (CHD) Awareness Week. North Carolina's governor signed the proclamation for 2010, and I'm currently awaiting her response for this year.

(If you live in NC and have not yet contacted Gov. Perdue about proclaiming Feb. 7-14, 2011 as CHD Awareness Week, this link will walk you through it.)

This year, I even stepped it up a notch and contacted our mayor about declaring the same for our city. Seeing as how there was a city council meeting tonight, and I just sent the request yesterday, I'm not sure that we'll make it this year. But, there's always 2012!

Y'all know what fuels my fire. Even if you just started reading here yesterday, you know that my life revolves around one of the most perfectly broken hearts. We were sent into a world I had very little knowledge of until March 8th, 2009. It has been a beautiful disaster, at its finest, and it has become my mission to make sure the world knows what these awful heart defects are doing to our babies.

In the year 2011 in the United States of America, I should NOT be reading articles like this. Babies should NOT be sent home from hospitals without first being evaluated for hidden heart defects. I don't even want to go there, to think about how different our lives may be right now if it hadn't been for our nurse wrapping a bandaid-like sticker around Ethan's toe.

That was all it took. A simple piece of sticky fabric told us that something was terribly wrong. A painless test, and a perceptive nurse, essentially saved my child's life. Did I ever think we would be one of "those families"? No way!

But, here we are. We are that family, and Ethan is one of those heart babies. He is one out of a hundred who was born with a CHD; one of the 40,000 who was born in the United States in 2009. He is a fighter in every sense of the word, and we are all stronger for it.

Please take a moment this month, and especially next week, to do your part to raise awareness. Do something as simple as changing your profile picture on Facebook, or wearing red in honor of a loved one.

Maybe you'll feel inspired to do more; like, donate to the Children's Heart Foundation, the only organization that was created to exclusively fund congenital heart defect research, or to send a care package to the nurses and doctors who work so diligently in your local pediatric cardiac unit.

Even the smallest act can send a loud message. Please, get involved. Do something. Do it for the babies who have lost their battle, and for those still fighting. Let us know that we're not facing this giant alone.