Families Share Down Syndrome Pregnancy Journey with Maternal-Fetal Medicine Program
October is Down Syndrome Awareness Month, when we raise awareness about the most common chromosomal condition diagnosed in the U.S.
It’s also a good opportunity to highlight the skilled and compassionate care South Shore Hospital’s Maternal-Fetal Medicine (MFM) Team provides patients whose pregnancies are affected by a chromosomal condition such as Down syndrome.
According to the Centers for Disease Control and Prevention (CDC), about 5,700 babies (1 in 700) in the United States are born with Down syndrome each year.
Also known as Trisomy 21, Down syndrome is a genetic condition in which an individual is born with an extra copy of chromosome 21, giving them a total of 47 chromosomes rather than the typical 46.
The extra chromosome can affect the way the brain and body develop, causing intellectual and physical challenges.
People born with Down syndrome are also more likely to have certain health conditions, including congenital heart disease, obstructive sleep apnea, hearing loss, and eye disease.
Most of these conditions are treatable and with supportive care, people with Down syndrome live healthy and fulfilling lives.
Here for patients throughout their journey
South Shore Health's MFM Program assists patients whose pregnancy may be affected by their age, chronic health condition, multiple gestation, fetal abnormalities, and other medical conditions.
The MFM Program's providers and prenatal genetic counselors also provide care and support for patients whose screening and/or diagnostic test results show an increased risk for, or diagnosis of, Down syndrome.
“We are patient advocates, here to help navigate pregnancy when something different has occurred,” said Judith Jackson, MS, CGC, LGC, who has worked as a genetic counselor at South Shore Health for 17 years.
Whether explaining ultrasound findings, discussing testing options, or answering questions, Jackson said she takes her lead from patients on what and how much information they want to know.
“The questions they might have today will be different from the ones they have tomorrow or next week,” said Jackson.
“I let patients know they can reach out with questions at any time. This is a relationship and we will be with you throughout the journey.”
Jackson said her goal is to support and empower patients by giving them the information they need to make informed decisions that are best for their family.
“Everyone’s needs are different and everyone is different when it comes to how much support they want throughout their pregnancy,” said prenatal genetic counselor Katie Bealka.
Some patients whose non-invasive prenatal testing (NIPT) shows a high risk for Down syndrome decline further diagnostic testing, she said.
“Our approach is to be supportive, meet the patient where they’re at, and make their experience what they imagined it to be," said Bealka.
“We try to impress upon patients that this is a non-judgmental, non-directive environment and we are here to offer support and gather whatever resources they may need,” Jackson said.
Those resources include access to the Down syndrome clinics at Mass General Brigham and Boston Children’s Hospital, where expectant parents can find information about early intervention programs.
The MFM Program also connects patients to the Massachusetts Down Syndrome Congress (MDSC) Parents First Call Program, where they can meet and speak to other families about raising a child with Down syndrome.
Jackson said the team often brings patients in similar situations together so they know they are not going through this alone.
Grateful families share experience with MFM
Being informed, empowered, and supported by the MFM Team at South Shore Health made all the difference to the O’Keefe, Cullen, and Howe families.
Laura O’Keefe was expecting her fifth child at age 45.
“I was the demographic for all the testing,” said Laura, who with her husband, Donald, had children ranging in age from 6 to 17 at the time.
“The decisions we were going to make would affect our entire family," she recalled.
Early screening tests showed two genetic markers – one showing increased risk for Trisomy 21 (Down syndrome) and the other for Trisomy 13, a more life-limiting chromosomal condition.
When further diagnostic testing (amniocentesis) showed their son, Steven, had Down syndrome, Laura said they were relieved.
“We were like ‘phew!’ We can do that," she said.
Laura said knowing the diagnosis ahead of time helped them to learn more about raising a child with Down syndrome and prepare her family.
“The MFM Team did a wonderful job of supporting us and giving us the tools and resources we would need," she said.
Laura said being connected with the Down syndrome clinic and early intervention services before Steven was even born allowed them to “hit the ground running.”
Now 15, Steven is a student at Scituate High School and a celebrity at South Shore Hospital, where he has had outpatient occupational, physical, and speech therapy since he was 4 years old.
“Everyone here has been wonderful throughout Steven’s life," Laura said. "And it all started with the MFM clinic.”
Ella Cullen said she and her husband, Edward, had “phenomenal support” from the MFM Team after learning there was something different with their pregnancy.
After a 19-week scan showed an increased risk for a life-threatening chromosomal condition, Ella said they were relieved when further testing confirmed their daughter, Julia, had Down syndrome.
Ella said the support, information, and resources she received from genetic counselor Emily Lazar and other members of the MFM Team were invaluable.
“Part of the blessing of the experience was to have the support and resources you need,” she said.
Connecting with the Down syndrome clinic at Boston Children’s Hospital helped the Cullens prepare and build a community of support before Julia was born.
In the years since, Ella has become an advocate for the Down syndrome community.
She is involved with the MDSC First Call Program and is founder and executive director of Julia’s Way, a non-profit organization dedicated to reimagining life with Down syndrome.
Ella is also editor of “Breastfeeding & Down Syndrome: A Comprehensive Guide for Mothers and Medical Professionals,” a resource the MFM Team shares with patients.
Now 9 years old, Julia loves to sing and dance, do puzzles with her dad, hike with her dog, and loves people, Ella said.
“She has a hug, fist bump, or high five for everyone she meets," Ella said. "Halloween is Julia’s favorite holiday – she starts planning her costume in June!”
After the loss of their first baby, Gabriella, Stacy Howe said she and her husband, Rob, felt lucky to be pregnant again.
Finding out they were having a boy was more of a shock to Stacy than the screening results that showed an increased chance their son, Brody, had Down syndrome.
“We were offered diagnostic testing but we didn’t want it,” she said. “Trisomy 21 didn’t change anything. A baby is a baby.”
Throughout the pregnancy, Stacy said she felt informed and supported in every decision by the team in Maternal-Fetal Medicine.
“The support I felt was immeasurable,” she said. “I can’t sing their praises enough.”
She said was particularly thankful to MFM provider Achilles M Athanassiou, MD, who offered the Howes encouragement from diagnosis to post-delivery.
"He was so generous with his time and even met with us for coffee outside the office," Stacy said.
The wonderful care continued during her three-week hospital stay before her scheduled C-section.
Stacy said Kimberly Dever, MD, South Shore Health’s Vice President of Women’s Health and Chair of Obstetrics and Gynecology, was a frequent visitor, bringing her words of encouragement and a copy of Ella Cullen’s book, “Breastfeeding & Down Syndrome.”
On the day Stacy delivered Brody, Dever captured the moment in photos and video.
“She was such a light,” Stacy said. “So kind and compassionate.”
Now 14 months old, Brody is happy, healthy, and hitting his milestones. “He loves people and loves to be the center of attention,” Stacy said.
“I’m so grateful for the experience we had at South Shore Hospital.”
