Editor's Note: This is the first in a two-part series on Mike and Sarah Reitsma, and their daughter, Lily, who was diagnosed with Turner Syndrome. February is Turner Syndrome Awareness Month.
Sarah Reitsma knew something was wrong with her baby.
Last May, Sarah and her husband, Mike, were at their 19-week ultrasound appointment—a routine examination of the unborn child where doctors find out the sex of the baby and ensure the fetus is developing properly.
Midway through the procedure, however, the nurse stopped the ultrasound to consult a doctor.
"She didn’t act like anything was wrong and then she said, 'I want to take a few more pictures, but before I do, I want to talk to about doctor about something,'" Sarah said.
For 10 minutes, the pair struggled to contain their growing sense of unease while they waited for the ultrasound technician to return.
This isn’t right, Sarah thought, as the minutes ticked away.
A History of Complications
Sarah, an Eagan resident, had plenty of reasons to be nervous. In 2006, her first pregnancy ended in a miscarriage. Her second pregnancy in 2007 nearly cost her and her son Liam their lives.
In the third trimester of her pregnancy in 2007, Sarah began to have unusual, heartburn-like pain. After the pain intensified over a several-day span, she went to the hospital. Doctors diagnosed the then-30-year-old with HELLP Syndrome, a life-threatening type of preeclampsia that is characterized by a low platelet count, liver failure and the breakdown of red blood cells. As many as one-quarter of all patients diagnosed with HELLP Syndrome die, according to the Preeclampsia Foundation.
Doctors performed an emergency Caeserean section, and on Aug. 9, 2007, delivered Liam, who weighed 3 pounds, 4 ounces. Liam spent 27 days in a neonatal intensive care unit (NICU) before he was well enough to return home.
“When you’re a first-time parent, you have an idealistic view sometimes of ‘Oh, the baby is going to born and it’s going to be easy and complication-free, and everybody is going to go home,” Sarah recalled. “I was in shock after he was born. I was pregnant, and had surgery, and he wasn’t there.”
Sarah had always been overweight, and after her recovery she set out to shed pounds to reduce her risk of weight-related health complications. She joined Weight Watchers, began exercising regularly, participated in 5k competitions and even blogged about her experiences. In two years, she lost 115 pounds.
Once Sarah was down to a healthier weight, the Reitsmas set out to have a second child. When they found out Sarah was pregnant again late in 2010, they both felt blessed and overwhelmed.
“I felt like I had done everything that I could to make it work out in a positive way, I was so much more healthy, I was running four days a week,” Sarah said.
But those feelings disappeared when the couple went in for their 19-week ultrasound.
The doctor told the Reitsmas that they were seeing an unusual amount of fluid in the baby’s heart and lungs, and that the child—a girl—had an large cyst on the back of her head and neck.
Sarah and Mike spent much of the rest of the day in a whirlwind of appointments with medical specialists and a genetic counselor. At the end of the day, the doctors told them their baby girl likely had a genetic defect known as Turner Syndrome. Healthy female babies are born with two ‘X’ chromosomes, but babies with Turner Syndrome are missing all or part of the second X chromosome.
The abnormality is almost always fatal, the doctors told Sarah. The chances her baby would survive to birth were low.
This wasn’t supposed to happen, Sarah thought. This was supposed to be her good pregnancy.
Check back at Eagan Patch on Friday morning for the second half of this two-part series.