Cherishing the time they have

By Angie Hutschreider
Jefferson City News Tribune
Sunday, March 8, 2009

“I woke up today with optimism and excitement, and in a couple of hours my world was turned upside down, by confusion and an extreme form of sadness that I had never in my life felt before. My heart, my soul, my mind were in continuous torment,” Rachelle Glavin wrote.

It’s hard to imagine what a parent would do when they find out their child is sick. When that child is not yet born, and their illness is fatal, most cannot even imagine how they would react.

At 20 weeks gestation, Rachelle anxiously waited for her ultrasound, excited to find out the gender of her second child, though unusually nervous.

“My husband (Tim) did not come with me to that appointment because he did not want to know what we were having and was afraid it might slip,” Rachelle recalled. “And I was fine with that – he wanted to be surprised and I wanted to know.”

During the ultrasound, Rachelle became nervous when she noticed something seemed wrong when looking at the top of the skull. She asked the technician, and they told her the doctor would discuss it with her. That’s when she knew her mother’s intuition was right – something was wrong. And silent tears fell down her cheek.

“My heart stopped then and I called Tim and told him something was wrong.”

After being sent to a maternal-fetal specialist in Columbia, they were given the news.

The Glavins were told that their daughter, Hailey, has alobar holoprosencephaly (HPE). She was also diagnosed with full Trisomy 13, or Patau syndrome, following additional testing.

Dr. Kimberly Martin, obstetrician/gynecologist and clinical geneticist with the Center for Maternal-Fetal Care in Columbia, said Trisomy 13 occurs at conception.

“Trisomy 13 is caused by a random error that occurs during formation of the egg or sperm, resulting in the baby being conceived with an extra chromosome 13,” Martin said.

This extra chromosome 13 interferes with the formation of many major organs, especially affecting the heart and brain development. HPE causes brain and structural deformities.

While these types of chromosomal errors occur more frequently in older mothers, there is a small chance of this occurrence with any pregnancy.

“It can happen regardless of the mother’s age,” she said.

Martin, who has been in practice for nearly 16 years, said she sees one or two cases of Trisomy 13 each year.

HPE affects about one in 10,000 babies, and Trisomy 13 affects one in 3,000-6,000 babies and varies in severity. “With the severity of Hailey’s condition, she is given little chance of surviving to term,” Rachelle said.

“There is a failure for the brain to divide into a right and left brain,” she [Martin] said. “Most children will have a problem with the development of the midline of their faces.”

Not all babies with Trisomy 13 have HPE. “Sometimes,” Martin said, “the brain will appear normal, but because of the extra chromosome 13 the brain will not function normally after birth.”

Rachelle was laying in the ultrasound examining room with Tim, watching Hailey pull her legs up and move around. The experience was both exciting and confusing to the family.

Tim asked Rachelle how the baby could be moving around so much if something was wrong with her brain.

Throughout Rachelle’s pregnancy – and even now – she said she still feels healthy, which can be confusing when her unborn child is facing such odds.

“A baby’s movement, pre-birth, is a response from the lower brain and is not purposeful movement, it is reflex” she [Martin] said. “It takes some time after birth for the child to move with purpose.”

The Glavin family knows the chances are bleak for their daughter. But instead of sitting back and waiting for the inevitable to happen, Rachelle says they are embracing every moment they have with Hailey. That means positioning a bassinet in the room meant for Hailey. Arranged tiny, pastel-colored baby gifts that came early in pregnancy will be set out, all prepared for Hailey, giving Rachelle the chance to commemorate her life. And all are awaiting Hailey, should she come home.

“It will always be her room,” she said.

“I am going to touch every kick, smile at every stretch, and count every nudge my daughter blesses me with,” she said. “And I will be reminded of how precious life is, how precious Hailey is, and how God blesses us in ways we never imagined.”

Rachelle said it is her family’s faith in God that is keeping them strong, though she has moments of grief.

“I will admit that sometimes after I have counted my blessings I cry. It is hard not to because I begin to think about what tomorrow might bring,” she said.

“The unknown is something we all deal with,” she said. “The truth is none of us know. We don’t know when, where or how.”

Rachelle said while they are sad about the reality of the situation, she does not want to be sad while she still has so much to be happy for.

“I am tired of saying ‘good-bye’ before I have even said ‘hello’,” she said. “I want to be happy and enjoy the time we have with her.”

March 13 is Trisomy 13 Awareness Day.

Follow the family’s journey at www.haileyshope.blogspot.com.