Monday, March 21, 2011

Diagnosis Down Syndrome: What it's Like

Typically babies are diagnosed with Down Syndrome before they are born--as early as the first trimester--or, at birth or shortly after. Our family story is a little unusual because our doctor did not suspect Charlie had Down Syndrome until he was 2 months old. In fact, Charlie's first diagnosis as a baby was moderate sensorineural hearing loss. Or, a loss of hearing that was permanent, and required him to wear hearing aids. Charlie, of course, no longer has a hearing loss, and in retrospect it is believed his hearing loss, and subsequent recovery, may have been due to a delay in maturation of his brain response to auditory stimuli. That or prayer.

Newborn Charlie.

The following are excerpts of my own journal entries, and reflections as I read back on them, written during the period of time when we were first dealing with Charlie's diagnosis of hearing loss and up through Charlie's diagnosis of Down Syndrome.  A snippet of what it was like for us to go through the process of receiving a Down Syndrome diagnosis at almost 3 months of age.  More of our family story of raising a baby with Down Syndrome can be found in the posts listed here.


February 9, 2006
Charlie, this has been so hard--not knowing the severity of your hearing loss. Having to wait and reschedule the tests and speculate. We've tried many little "tests" of our own.

I want to know that everything will be okay. That you can hear me when I sing to you. I want you to hear your daddy's guitar when he plays for you in the evenings. All this time, even before you were born, we sang, we played, we spoke to you. Have you heard us?

Reflection:  Raymond is a musician.  Music is hugely important to me, as well.  We naturally had many expectations for how musical our child would be.  We were told hearing aids would help him hear speech, but we worried so much about how it would affect his ability to enjoy and participate in music.

March 7, 2006
Why is this happening? With each new issue that comes up I feel as if I am being torn away from Charlie's heart. That my ability to connect, and affect, and understand him is shaken. Please, please let my little boy be okay. Please let him be of normal intelligence and development.

Reflection:  I never intended to have so many prefabricated dreams for the life of my child.  As we discovered and uncovered more issues, it felt like all that I had expected just came crashing down.  All I was left with was pieces of the dreams I had made for our baby.  I didn't know how to relate to him now that he wasn't who I thought he was. 

March 12, 2006
Today I dreamed of a funeral. It feels as if a Down Syndrome diagnosis will steal away forever the baby I thought we had, even from before he was born.  I don't want this.

Reflection:  The wait was an incredibly painful time.  Charlie is named for Raymond's Grandfather, Charles.  A name that has been passed down for generations.  In one dark moment I thought we had wasted an important family name on our imperfect child.  A child who would never go on to have a family of his own.  Raymond says the same thought occurred to him.

Charlie learned to smile in those three weeks of waiting.

March 16, 2006
Tomorrow is the day we hope to learn the results of the karyoptype. I am so afraid. Intuitively I know that if Charlie has Down Syndrome, we will eventually settle in to that reality and it will seem normal, but my heart does not believe that yet. Even if he does not have Down Syndrome, he is still hearing impaired and will have to wear hearing aids.

Reflection:  Photographs of babies with Down Syndrome were so vital to helping me through the wait.  I peered over them intently.  I can remember one photo of the sweetest little baby boy with big round cheeks and a button nose just like Charlie's.  He was smiling, and I remember thinking if Charlie would look and smile as sweetly as that baby, then just maybe I could do this.

March 28, 2006
I got the call from Charlie's doctor today. He said the results came back positive for Trisomy 21. I asked the doctor "Now what?" It was the only thing that came to me at the time. He responded to just keep doing what we are doing. And that was it.  Charlie has Down Syndrome.

Reflection:  Finally receiving the phone call... it was hard.  I cried.  But mostly I was glad to know, and move forward.  It was kind of like, "Okay, I guess I know who you are now.  It wasn't who I was expecting, but I love you the same.  Let's get to know one another.  Let's move forward and learn about Down Syndrome."  There were still so many emotions to wade through, so many things to sort out in my head.  But there was no longer the agony of everything I knew or thought to be true hanging in the air above me.  Now I had a reality I could work with.

More here.

My First Mother's Day.


laura said...

good post Kim...and the words that came to me after i read it are "perfect and with a purpose just as he is".

love you guys!

laura said...

I love your post. When I was done reading it the thought that came to me was "Perfect and with a Purpose just as he is!"

love you guys,

laura said...

sorry for posting twice, i guess it takes a while to show up. I will try to remember next time.

Anonymous said...

Thank you for sharing. Your blog is inspiring!

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