The Tragedy of Trisomy and the Need for Awareness

Saturday, November 29, 2014

Patrick Sargent, GoLocal Worcester Contributor

Teddy and Amanda Zawlick

Amanda and Teddy Zawalick tried to start a family as soon as they were married last October. This past March, Amanda found out she was pregnant. Initially, everything went well during the pregnancy. Amanda never got too sick, she was never too uncomfortable and she loved knowing that she was going to have a baby. They had decided to name their baby girl, Brielle.

Everything seemed to be going as planned until July 8th, when the first ultrasound revealed that there were issues.

"At first we thought it was just low fluid but later found out it was much worse. After many specialist appointments and second opinions at Children's Hospital in Boston, we learned that the baby's heart issues were more severe and would need multiple surgeries and possibility of heart catheters, her lung artery and lung valve being so small would also lead to poor lung development," said Amanda Zawalick.

A Diagnosis of Trisomy 13

The Zawalicks learned that Brielle had Trisomy 13, a rare chromosomal disease and fatal genetic birth order. Brielle had three copies of chromosome 13 in every cell of the body, rather than the normal two copies. "I knew that these things could happen, I didn't think it could happen to me. I didn't even know trisomy existed until this very unfortunate event," said Mrs.Zawalick.

"We were told that she is most likely surviving because my body is giving her what she needs, she was surviving off of my resources. The possibility of her having even more complications was very big since her chromosome test did have extra material on chromosome 13. After hearing this we couldn't stand the thought of our daughter suffering," said Mrs.Zawalick.

Trisomy 13 is associated with severe intellectual disability and physical abnormalities. Less than ten percent of children with Trisomy live past their first birthday. Many infants die within their first month of life. Trisomy 13 occurs in about 1 in 16,000 newborns. Trisomy 13 can occur in a child of a woman of any age, and can occur even when both parents are completely healthy.

"We lost her when I was a little over 23 weeks. It was the most real and saddest moment of our lives. I don't think I have ever, or will ever, feel this kind of emotional pain like I have during this experience," said Mrs.Zawalick.

Mrs.Zawalick said, "I never thought starting a family would be such a long and painful road but all we can do is continue supporting each other and hope that some day we will have the little family we always wanted. Brielle will always be our first child and I will always keep her in my heart. We said good-bye by spreading her ashes on a beach in Maine. It was such a beautiful way to say good-bye."

According to Boston's Children's Hospital, "The chance of having another baby with trisomy 18 or 13 is no more than 1 percent, although the risk increases slightly as the mother ages. The genetic test to diagnose trisomy 18 or 13 in a baby can determine the underlying chromosomal abnormality, which is important in determining a mother's risk in future pregnancies. Your doctor may refer you to a genetic physician or genetic counselor who can explain the results of chromosomal tests in detail, including recurrence risks."

What is SOFT?

"Though we both have been grieving, I have been trying to raise awareness for child loss and trisomy," said Mrs.Zawalick. "Throughout our rough times, decisions, and questions, we found SOFT."

SOFT (Support Organization for Trisomy) is an organization dedicated to spread the awareness of Trisomy and to support those families that are affected by it. The Zawalicks look to the SOFT website to read stories about other families and to learn more about the trisomy conditions.On Saturday, the Zawalicks are hosting a fundraiser to donate to this organization.

The fundraiser is a Paint Night event at Just Paint in Worcester at 7pm. Click here for details.

The event will be held two days after Brielle was suppose to be born. Proceeds will go towards the SOFT organization.

If you cannot make the fundraiser, donations are accepted on the Zawalick's GoFundMe site. Their goal is to raise $1,000 towards Trisomy Awareness.