Noah Sleeps Through Our Stroll Through The Genetic Memory Lane

I wanted to take my problogger friend on a mini-tour of the hospital where my wife works (she’s an emergency room pediatrician) before he headed back home to Atlanta (on a 5 am flight!) the following morning.

By the time we made it to the hospital, Noah had fallen to sleep.  Rather then wake him, John (the problogger) pulled his iPhone out and started filming.  You’ll notice that despite the screaming baby in the background, and the sound of a toy train, Noah stayed sound asleep.

Seriously, this kid sleeps like a baby!

By the way, do you remember that famous commercial from the 80’s where the nice lady helplessly said, “I’ve fallen…..and I can’t get up?”  Well, when Noah goes to sleep, he sleeps….and he doesn’t wake up!

The rumor is that babies who develop in the womb before birth in a house with dogs they get used to noise, and once out of the womb are champion sleepers.  We have two (sometimes very annoying) barking dogs.  So maybe there’s some truth to that rumor after all.

A Stroll Down Memory Lane

The Longest Car Ride Ever

A few days after bringing Noah home from the hospital we got a phone call from our pediatrician (yes, pediatricians have pediatricians) asking us to immediately bring Noah in to discuss something that had come back positive on his newborn screen.  We bundled up our little one-week old and headed out the door.

Even though the pediatrician’s office was just a few miles from our house, the car ride seemed to take forever.  In the car I asked my wife what she thought this could be, and if it could be  serious. She said it was likely something concerning Noah’s thyroid, which wouldn’t be that big of a deal.

If only it would have been his thyroid….

Newborn Screen Results

Once we made our way back to the examination room our pediatrician came right in.  She told us that Noah’s newborn screen had come back positive for a very rare metabolic disorder called Glutaric acidemia, type 1 (GA-1).  In fact , it was so rare we were told that if Noah were to have both GA-1 and Down Syndrome, he could be the only kid ever known to have both.

Oh, and GA-1 is a lot more concerning then a thyroid problem.

A lot more.  (So much so that my wife made me promise to her that I wouldn’t go home and google it.  She was in luck, because I had no idea what our pediatrician had said, let alone how to spell it!)

And….There’s no cure for GA-1.

And….it was going to take three months to know for sure if our little boy had it.

And….Our one-week old baby would have to be put through a series of labs, including a DNA sequencing.  Only then would we know for sure if we (as my wife put it) hit the “genetic jackpot.”

Great.

at the geneticist lab with our new born with down syndrome

We never dreamed we would be visiting this place!

The next three months were the hardest three months of my entire life.  Without a doubt.

I’m not going to go into all the details of that three-month time span in this post.  If you are interested in knowing the entire story you can read “Noah’s Story” which I’ll have posted by the end of the week.

It turned out that Noah did not have GA-1 (praise God!) and that the original lab results were a false positive.

You Never Know What The Future Holds

When Abbie walked out of work on her last day before beginning her maternity leave she jokingly posted a picture of the hospital where she works on her Facebook with the

Our little boy just had his dna sequenced for his new born screen

We both cried...and we both got stickers!

caption, “Goodbye hospital, I won’t be seeing you for another 12 weeks.”

Little did she know that she’d be back at that same hospital much sooner than 12 weeks…..

Only she wouldn’t be coming in to see patients.

The hospital where Abbie works is home to one of the only geneticist offices in the metroplex, and we had to bring our little Noah in to get his DNA sequenced. Never in a million years would we had ever thought we’d be brining our little baby in to see a geneticist.  Or to have his DNA sequenced.  (I still don’t even know what that means.)

Taking this video reminded me of how scared we were during those three months.  Here we were trying to wrap our minds around Down Syndrome, and then we were forced to deal with the possibility of our son having Glutaric acidemia on top of that!  It was scary.

We learned a very valuable lesson during those three months….we learned that God is bigger then your biggest fear.  Seriously.

All of the hugs, cards, candies, and kisses were nice….but they couldn’t comfort our soul.  Chocolates may taste great, but they can’t help you sleep.

The Lord gave us a peace that was beyond anyone’s understanding.  Our worry was replaced with joy.  Our fear was replaced with trust.

And God got us through it.  He really did.  It was amazing!

I’m not sure what you are going through today. If it’s fear, worry, anxiety, or all the rest…but God is able.  He really, really is.  You, and I won’t ever know what tomorrow holds  (I know that more than ever now) but I do know what God holds……the whole world….in His very hands.

And that world includes you.

and me.

and my family.

and your family.

That helps me sleep at night.

What about you?  Have you ever had any scary, or unexpected doctor visits? What helped you to keep moving forward?

-Rick

 

 

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About Rick Smith

Hi, I'm Noah's Dad and I'm passionate about giving the world a window into our life as we raise our son who was born with Down syndrome. I also enjoy connecting with other families, so let's stay connected.

Comments

  1. We have been so blessed; our daughter has had virtually no health problems except for hypoglycemia and elevated cholesterol and hypothyroidism. These are all easily treated and managed. No heart problems or anything else.
    When she was a baby, her sucking was very poor, so it was easy to “break” her from a bottle, she never used a pacifier, and she never sucked her thumb. She had no special “blankie” or stuffed animal. All in all, she’s been so easy!
    Noah is a doll. Keep these videos coming!
    We can’t wait for each installment.
    Sharmane’s Dad

    • Joseph,

      Thanks so great regarding your daughter. We have been so blessed as well regarding Noah’s health. We had two small holes in his heart (an ASD, and another one that I can’t remember right now.) One of them has closed, and we are praying that the other one has closed up as well by the time we go back to Noah’s cardiologist.

      Glad you enjoy the video….I have a lot of fun making them. Always good to hear from you.

  2. loved filming!

    • You did such a great job!

      I should do credits on the end of the videos so I could go back and put you as a the voice talent. 🙂

      Can’t wait for you to come back…..in a week and a half.

  3. Hi my name is earl and my recently born son has tested positive on the screening my wife and I have been a wreck I know how you must have felt I am putting my faith in god and it is so hard for me to do. I don’t know how we are gona get threw this.

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