Our First Child

Diagnosis: Alobar Holoprosencephaly

By Heather

Back in 2006, my husband and I got pregnant with our first. We were thrilled at how easily and quickly I was able to get pregnant as I was 35 years of age. All of our early screenings and tests were going fine with no problems, risk factors, or signs of complications. All was well except for raging morning sickness.

At 20 weeks (and visibly showing and feeling movement) we went for our level II ultrasound (based on my age I qualified) and were expecting no major news except for the gender of the baby we had dreamt of having. My life changed forever that day.

The ultrasound tech was quiet...too quiet...and sort of avoided answering questions. She stoically said that the doctor would be in to "go over everything." My heart dropped through the floor. Something wasn't okay. I just knew it. A mother always knows.

The baby was diagnosed with a significant and severe brain abnormality called Alobar Holoprosencephaly. That term is a fancy way of saying that the brain did not divide into the normal two hemispheres. As a result, in addition to massive brain damage and major system malfunctions, everything along the mid-line of the face is affected. Closely set and bulging eyes and a lack of a properly formed nose. In its absolute worst manifestation this abnormality can result in a child with one cyclopic eye. While there are milder forms of HPE the end of the spectrum that we were on was devastating and described as "incompatible with life."

If the earth could have stopped rotating on its axis I was sure it had done so because time seemed to stand still. I wanted nothing more than for this to be a joke or a big mistake. But it wasn't. The words "incompatible with life" echoed in my mind like razors on a chalkboard.

We were told that:

  1. these cases are rare but devastating
  2. the baby would die soon after birth IF I made it to term
  3. that they had no real explanation for why I had not miscarried earlier on
  4. the vast majority of these cases are random, sporadic events but that there was a small body of research that had found 4 genes that had possible involvement but the percentages are extremely small (a total of like 10% of the total for all four combined.)

We made the decision to have an amnio on the spot "just in case" and sent cells out to a lab in MD that specializes in genetic testing.

My heart was broken as was my husbands. We were sick. We were offered and accepted a referral for an immediate 2nd opinion and went directly across the street to another office and were given the same diagnosis and prognosis. "Incompatible with life"

We went from thinking we were going to find out the sex of our child to having to make the most difficult decision of our lives. I desperately wanted to ask whether it was a boy or a girl but my heart just couldn't handle it. To this day I still have moments when I want to know but every time I get close to inquiring something stops me.

For us...it was an obvious, but not easy decision, to make. To keep our child from suffering what we felt would be unspeakable pain we made the decision to interrupt the pregnancy and to terminate. But doing so at 20-21 weeks is not a simple or painless process by any stretch of the imagination and anyone who says it is, is painfully misguided.

There was a nine day gap between the day of diagnosis and the first part of the D & E procedure. These quite possibly were the worst 9 days of my life. I was tortured by the fetal movements when I would awaken every day and I would lay in bed crying, wishing they would just stop so I could try to put all of this out of my mind. It never happened. I didn't leave the house for fear of having someone ask when I was "due" and I took little to no phone calls. I wanted to be left alone. I managed to send one group email out to friends I had not phoned directly as I needed people to know, to understand, and to know what and why we had made the decision we had made. I wasn't ashamed and I refused to lie and say I had miscarried.

Interestingly and frighteningly, at the time of our diagnosis I didn't realize we were at the legal limits to terminate a pregnancy in the state in which we live for any reason other than rape, incest or maternal health compilations.  We (thankfully) were told not to worry about that and to make our decisions based on what we felt was best given the realities of the diagnosis. I honestly have NO idea what they "coded" it as because I was never told I was in danger. I don't really care to be honest because it was the right thing to do, and the doctors we had knew that.

We were given the option to be induced and deliver or to have a D & E. There was NO question in my mind that I could NOT handle being on a Labor & Delivery ward surrounded by healthy newborns and deliver a baby who would die a painful death in my arms.

We were referred to a Dr. who specializes in 2nd trimester terminations, for the D & E procedure. He was an angel of mercy in my book and always will be. It takes a very special person to do the work that he has committed his life to doing and still be caring and sensitive enough to hold my hand as I drifted off into anesthesia and to bring me fresh picked flowers from his garden in recovery.

It was a two day procedure...they insert dilation elements into the cervix a day before the surgery. The pain of dilation that night was unspeakable Especially knowing what was happening...dilating for a baby that would not be held. It was Halloween night and I laid upstairs in pain listening to giggling trick-or-treaters come to the door.

After the surgery I would have to suffer with my body thinking I had birthed a baby...my milk came in and I had to bind my breasts with ace bandages for weeks to dry them up and minimize the blinding pain of doing so. My uterus twitched as it shrunk back down to normal size. My heart ached. Again, time stood still.

In the months to come we would be smacked in the face again and again. I didn't stop bleeding and by January they determined I had developed some scar tissue that would need removal by a D&C to remediate. Another invasive surgery and reminder.

And then the ultimate blow...we found out that despite the incredibly small odds, we did have a genetic marker that was the culprit. One of us carries a sequencing error on ONE gene that accounts for ONE percent of the cases of AHPE. The kicker is that this is an autosomal dominant gene which means it is a 50/50 chance of recurrence every time. As u can see, our three year old daughter born in 2008 was a true leap of faith (which I often run short on), and miracle.

A day doesn't go by without our first child crossing my mind but deep in my heart I know we made the right decision for all of us. We remember because we loved, and we let go for the same reason.

Heather & David


Books on Loss and Grief

Our Heartbreaking Choices: Forty-Six Women Share Their Stories of Interrupting a Much-Wanted Pregnancy

The Dive :: A Memoir

A Time to Decide a Time to Heal: For Parents Making Difficult Decisions About Babies They Love

Precious Lives Painful Choices: A Prenatal Decision-Making Guide

Sunshine After the Storm: A Survival Guide for the Grieving Mother

Empty Cradle, Broken Heart, Revised Edition: Surviving the Death of Your Baby

Empty Arms: Coping With Miscarriage, Stillbirth and Infant Death

A Silent Sorrow: Pregnancy Loss

Unspeakable Losses: Healing From Miscarriage, Abortion, And Other Pregnancy Loss

Surviving Pregnancy Loss: A Complete Sourcebook for Women and Their Families

Difficult Decisions: For Families Whose Unborn Baby Has a Serious Problem

Books for Fathers, Family, Children and Friends

Couple Communication After a Baby Dies: Differing Perspectives

For Better or Worse: For Couples Whose Child Has Died

How to Say it When You Don't Know What to Say: The Right Words For Difficult Times

A Guide For Fathers: When A Baby Dies

When Your Friend's Child Dies: A Guide to Being a Thoughtful and Caring Friend

When Pregnancy Fails: Families Coping with Miscarriage, Stillbirth, and Infant Death

What You Can Say When You Don't Know What to Say: Reaching Out to Those Who Hurt

Books about Trying Again and Pregnancy after Loss

Journeys: Stories of Pregnancy After Loss

Trying Again: A Guide to Pregnancy After Miscarriage, Stillbirth, and Infant Loss

Pregnancy After a Loss: A Guide to Pregnancy After a Miscarriage, Stillbirth, or Infant Death