ACC & Moms-To-Be Story #18

I am very thankful to all of the Moms and Dads who
want to tell their story about being pregnant and having
a baby with Agenesis of the Corpus Callosum.

On October 12th I received an unexpected e-mail from Elizabeth, who graciously informed me that she would like to share her ACC Pregnancy Story.

With her permission I am including Elizabeth's own words, from her e-mail to me, here for you to read:

"I have been an avid reader of this blog for the past 19 weeks, when my son, Nicolas received his prenatal diagnosis of complete ACC. My husband and I were devastated. We didn't even know what the diagnosis meant, never mind how we were supposed to react. We were scared, ashamed, sad... Reading the stories here helped us to shift our focus to hopeful, strong, and optimistic. Here is my story, so that I can pass along the help that I received here when I needed it the most."

Thank you very much, Elizabeth, for reaching out to other people, for offering hope and for sharing from your heart your son, Nicolas' Story, to help others. It is truly a privilege to be able to post your ACC Pregnancy Story here on the ACC blog and I am eternally grateful to you.

Each story is as unique as each child who has ACC.

I believe in my heart that every ACC story told will ultimately reach out and touch the life of someone else in very special and amazing ways.

Written by Elizabeth

Nicolas' Story

Our journey with Nicolas began in January of 2012. When we found out that we were expecting my husband was terrified. He was 44 and I was 39. Along with our advanced age, I have three children from a previous marriage, and he is a born worrier. He came up with so many “what if” scenarios, that I was almost beginning to regret having decided to try and have a baby together. Somehow, I managed to soothe his worries with my stories about how my other children were born perfect, and that the odds of a problem in the pregnancy were so small, that there was really no reason to even think about them.

At 16 weeks, my doctor had me take a very routine blood test – something called a quad screen. I remembered that with my third pregnancy, I had “failed” this very blood test, had a 1/500 chance of having a Down’s syndrome baby, and been utterly terrified. I warned my husband that this test was very inaccurate, and had a lot of false positive results. That didn’t stop either one of us from being sick over the results that we received. One of my scores was 13.5 times the average result. We had a 1/4 chance of a Down’s baby.

We went for an amniocentesis, which thankfully showed 46 evenly matched chromosomal pairs. Doctors still couldn’t explain my very strange result. Due to “advanced maternal age” and this weird blood screening, it was advised that I have level two sonograms throughout the pregnancy, until they could figure out what was going on. Well, if you look too long for something, you eventually find it.

At my 23 week sonogram, my perinatologist, quite cheerfully announced that something looked “weird with his brain”. After some more scans, he told me that the baby had isolated Agenesis of the Corpus Callosum. He said this with a smile, and then told me it was very serious, and sent me off to the genetic counselor.

I had to call my husband, away for two days at work, to tell him this potentially devastating news. We still didn’t know too much about it, except that the range of outcomes was from asymptomatic to seizures and severe developmental delays. All we could do was hope for the best. We had a fetal MRI which was reviewed by a pediatric neurosurgeon. She confirmed the diagnosis. She recommended that we deal with whatever came our way; and to start by going home to paint the nursery. I found this blog, and read about a lot of great kids, some with tougher roads ahead than others, but all loved and cherished by their families. We decided to become one of those families.

Fast forward to September 27. I am 39 weeks pregnant; and being induced. After a relatively easy and uneventful 8 hour labor, Nicolas decided to be born all at once in 15 minutes. Things got very tense, as his heart rate, which had been stable at around 140 bpm dropped abruptly to 60, then into the 50’s. The neonatologists were already in the delivery room due to Nicolas’ prenatal ACC diagnosis. When he was born blue, silent and still, with his umbilical cord wrapped around his neck and tied in a true knot, they were able to revive him within one minute. While his initial Apgar score was 1, his subsequent ones were 7 and 9. Thank God for that prenatal ACC diagnosis, and the advanced preparation of the neonatologists. After about an hour to bond with his dad and me, he was taken to the NICU for further evaluation. He was delivered back to us within two hours, and since has never been out of our sight.

Other than his ACC diagnosis, and some other possibly related, “garden variety” birth defects (heart murmur and undescended testicle) Nicolas is a perfect baby. I know that he is only two weeks old, and that things may change, but so far every specialist assures us that he looks very likely to develop normally, and to lead a very typical life. He has a cardiologist, and a neurologist. On Monday he will meet his Birth to Three [Early Intervention] team. We expect a urologist in the future. We know that we will have many challenges with our child, and that they may not all be easily met, but already we can’t imagine, or even really remember life without him. His siblings adore him; his grandparents are all on cloud nine. He has brought a real sense of joy to our lives and of completion to our family. He has strengthened the already incredible bonds between my children, my husband and myself. We have a tremendous support system and are confident that we can expect the best possible outcome, no matter what comes our way.

Like I said earlier, I know that we are still only in the beginning of this incredible journey with Nicolas. I know that there are people out there that have lived with ACC, or with their children with ACC that have much more firsthand experience than I do. I just want everyone out there who is receiving their prenatal diagnosis, who is scared, and feeling completely alone and lost, to know that in the long run, the ACC probably doesn’t matter as much as you think.

I will always be sad for Nicolas when he has a particularly difficult challenge to face. I will always wish that he had an easier path, and I will always know that this diagnosis is “unfair” and that he didn’t deserve it. However, I will never forget the joy and relief I felt when I first heard his cry. I will never forget the look of rapture on my husband's face when he turned to me to say that Nicolas was holding his finger so tightly at two minutes old. I will never not love this boy with my whole heart for exactly who he is, not what he has or who he can never be. Children know when they are loved, and they thrive because of it.

-Elizabeth
Mom of Nicolas
October 12, 2012

PS:
Attached is a picture of Nicolas "singing", at nine days old :)

UPDATE: November 1, 2012

"Nicolas, at 5 weeks, is focusing on my face, smiling, and "talking". This after he eavesdropped on a conversation with his [Early Intervention] birth-to-three coordinator, where his dad and I both said that our immediate goal was for Nicolas to be able to bond, make connections, and be a happy, socially functioning part of the family!"

"Nicolas was born on September 27 at 5:06 PM. He weighed in at a puny (for my kids!) 7lbs and 1 oz, and he was only 19 (again - puny!) inches long. He was greeted by ecstatic siblings - 2 brothers 9 and 14 - and a sister 11 - who are convinced that he is going to not only thrive, but be a "super-genius" (their words, not mine!)"

There are many different stories and outcomes of ACC and Moms/Dads-To-Be.

I welcome every story.

Do you:

Have questions?
Need support?
Want information?
Have encouragement to give?

Do you want to share your own ACC story here?

If you do, please E-mail me, (Sandie):
hope@aracnet.com

Want to talk to other moms (and dads) who have been there and understand? Join the ACC Listserv e-mail support group.

I hope to continue sharing more of these ACC and Moms/Dads-To-Be
stories out in the open in an effort to inform, encourage,
support and help other moms (and dads) out there who are being
told that their baby in utero has agenesis of the corpus
callosum.

This ACC and Moms/Dads/Parents-To-Be section will always remain open and available to anyone who would like to tell their story.