This Is Baby Chloe’s Story. Living And Dying With Spinal Muscular Atrophy (SMA)!

Spinal muscular atrophy (SMA), is the number one genetic killer of children under the age of two!  Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder”: approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.

Spinal Muscular Atrophy is an autosomal recessive disease, which means that both parents must be carriers. Both parents must have the gene responsible and these genes must be passed onto their child. When a child has received this gene from each of its parents it will than be affected by SMA. Although both parents are carriers the likelihood of passing this gene along to a child and having an affected child is 25%, or 1 in 4. To learn more visit http://www.curesma.org

PARENTS CONSIDERING HAVING CHILDREN OR WHO ARE ALREADY PREGNANT CAN FIND OUT IF THEY ARE CARRIERS THROUGH A SIMPLE BLOOD TEST.  PLEASE ASK YOUR DOCTOR.

Chloe’s Story

Our beautiful daughter Chloe was born on July 6, 2007 weighing in at a whopping 9 lbs, 7 oz! My pregnancy was uncomplicated, the birth was uncomplicated.  The hospital pediatrician even called her “perfect.”  My husband Matt and I were overjoyed.  And exhausted.  And overwhelmed.  But totally in love.  During her 4 week-well baby visit, our pediatrician was clearly concerned.  He told me he didn’t like her low “tone.”  WHAT?  I didn’t know what he meant.  As he tried to illicit certain reflexes and see if she could hold her head up, a horror began to creep up my spine.  I could suddenly see what he was seeing.  Chloe was completely floppy.  Her legs were out in a froggy position. She clearly couldn’t bring them up to her tummy.  Her head was always turned in one direction and she couldn’t hold it up on her own.  If I didn’t support it, her head would simply flop backward.  I was given a prescription to get Chloe to a neurologist immediately.

After seeing several doctors- neurologist, geneticist, on and and on….we were told to go home and WAIT.  For THREE WEEKS.  Until the results came in.  After all of the testing, I did lots of research, and when I found the Families of SMA website and read about the babies with SMA, particularly Type I babies, I instinctively knew.  On September 3rd, 2007, we were given the news that SMA was indeed what was wrong with Chloe.  We were told she wouldn’t even live the entire year, to go home and love her.

For six months, Chloe maintained what little strength she had.  She was a bright, beautiful, very intelligent little baby.  So happy and full of joy.  Her eyes let you into her soul.  Every child I meet or see with SMA is the same.  It is in the eyes. Their journey here is short, but very important.

By seven months, it was clear Chloe was beginning to have trouble swallowing.  She was choking more and more on her bottles.  We made the decision to have a g-tube put in.  This would allow us to put the formula directly into her stomach.  This saved Chloe so much strength because she didn’t have to work as hard to eat.  And she was sleeping better and had much more energy.  Shortly after we had the g-tube placed, we had a very scary respiratory episode where she choked on her own secretions and almost died. I had to administer CPR.  She was FINE!  Happy as can be right after that.  Matt and I were not.  We were nervous wrecks.

By ten months these scary choking episodes starting happening daily.  I never slept, she never rested….it was awful.  We had a wonderful hospice group helping us care for Chloe, and they were able to get a machine called a Cough Assist.  This enabled us to manually cough for Chloe.  We could bring up the phlegm and secretions and keep her airway clear.  What a difference this made!!  It was still a daily task to monitor her and make sure she wasn’t choking, though.  We had a suction machine to suction out her mouth and keep her as free and clear as possible.  But it was every few minutes all day long.  If I left her too long, she’d start to have trouble.

I could tell by Christmas of 2008 that she wasn’t going to live much longer.  She had trouble breathing now.  Her respiratory muscles had grown too weak to sustain her.  Matt and I decided early on that we didn’t want her dependent upon machines for life.  So we were not going to trach her and put her on a ventilator.  We loved her too much to let her live like that.  It was our own personal decision.  Others may decided differently for their child.

On February 9, 2009 at the age of 19 months, Chloe died surrounded by her friends and family at home.  She was in my arms.  And finally at peace.

What you don’t see between the lines of this story is the joy.  The love. The happy moments.  This child brought more joy to this world than I have ever known.  And more grief.  I cannot possibly put into words what this does to a person.  A parent.  When you watch your child lose the ability to even lift a finger.  When you would trade with them in a second but you can’t.  It is the most helpless, scary, torturous thing you can imagine.  I will never, ever be the same.

We were blessed with a healthy baby girl named Lydia Grace on May 19, 2009.  I was pregnant with her when Chloe died.  We did prenatal testing early on in the pregnancy and we know she does not have SMA.  But she is a carrier like Matt and I.

My hope in sharing our story is to bring awareness to a disease that can be prevented.  Please ask your doctors about SMA.  All it takes is a simple blood test to know if you are a carrier.

You can find the Families Of SMA site at http://www.fsma.org

*This story was written by Corinne Painter, mommy to angel Chloe and Lydia

Tagged as: Chloe's Story, SMA, Spinal Muscual Atrophy