September 04, 2015
Project offers help to parents of children with trisomy
CARBONDALE, Ill. -- Bewilderment can quickly turn to fright when parents discover their children have a rare genetic condition such as Edwards syndrome or trisomy 18. They are often told their children have a condition that is “incompatible with life.”
But thanks to the work of Southern Illinois University Carbondale faculty member Deborah Bruns and her student staff with the Tracking Rare Incidence Syndromes (TRIS) project, trisomy parents are learning more about who their children are, what the future holds, and how they can better advocate for their children.
Rhonda Dennis, of Indianapolis, learned from a sonogram during her 35th week of pregnancy that her daughter had a fluid-filled area on the brain and several additional concerns. Lilliana Joy Dennis was born in May 2011 with trisomy 18. Rhonda had many questions and little information.
“The health care professionals weren’t offering us much help or hope at first. We had to know what to ask for,” she recalled. “The research and information we get through the project and connecting with Debbie and with other parents is helpful as we can share it with our doctors. Early on, we really had to advocate for Lilliana. They sent us home and didn’t even offer any treatment options.”
What is a rare trisomy condition?
Trisomy is characterized by the presence of an extra chromosome -- a third copy instead of two. Trisomy can involve all of the cells in a human body, or the extra chromosome can be present in some cells (mosaicism). Or, it may be attached to some cells, but not others (partial). The most well-known form of trisomy is Down syndrome, or trisomy 21.
Bruns’ work focuses on other, less common forms of trisomy, including trisomy 18 and trisomy 13, or Patau syndrome. She notes that often people are totally unaware of these rare incidence trisomy conditions until their families are touched. Yet studies indicate approximately one in 6,000 children is born with trisomy 18 and one in 10,000 has trisomy 13.
To varying degrees, a trisomy condition results in developmental and physical delays. Children are typically small in size at birth and have heart defects and apnea. They also have characteristic facial features such as low-set ears that alert medical professionals something is amiss, if their condition wasn’t identified prior to birth.
The TRIS project’s goal is increasing knowledge about rare incidence trisomy conditions and making information available to families and interested educational, medical and therapeutic professionals. Doing so enables them to make the most informed, appropriate decisions regarding services, treatment options and support for the children and their families. Bruns and her team gather data via in-depth online surveys completed by parents and analyze and share the results through publications and presentations.
Bruns, a professor in the Special Education program in the Department of Counseling, Quantitative Methods and Special Education, is the principal investigator of the TRIS project and has more than 20 years of experience with children with multiple disabilities. Her first exposure to rare trisomy conditions came as a New York City classroom teacher where some of her preschool-age children had trisomy 18.
“I had never heard of it but I was intrigued. When I tried to find information about trisomy children and how to help them, I found autopsy photos. And here I was working with smiling, engaged children, living kids with very different personalities,” Bruns recalls.
She began researching rare trisomy conditions and in 2007 the TRIS project was born. Parents are asked to provide extensive baseline data and annual updates regarding their children, including details about their medical conditions, educational and therapy needs, developmental milestones, family support and familial demographic information. There’s one survey for families whose children survive two months or more, as well as annual follow-up surveys, and another for those who lived 60 days or less.
Research that matters
At this time, families have completed about 355 full surveys for children living at least two months and nearly 200 modified surveys (for those who live two months or less), along with about 550 follow-up surveys. Bruns, working with SIU students, analyzes all of the surveys, resulting in the publication of numerous articles in medical journals.
The articles highlight medical experiences, what works and what doesn’t, and realistic prognoses for the children. Data comes from parents all over the world who find the TRIS project through various types of outreach including parent-to-parent contacts, the project’s Facebook page, at the annual Support Organization of Trisomy 18, 13 and Related Disorders (SOFT) conference Bruns attends, and in various other ways.
Experiential learning for SIU students
Emily Campbell got involved with the TRIS project in fall 2012 as an SIU undergraduate research assistant “because of my love of research and science.” She earned her degree in special education in December 2014, but continues her work with the project.
Campbell, now a special education teacher at Rantoul Township High School, spends many hours mining TRIS Survey data from Excel spreadsheets, creating tables and helping write manuscripts. She has also assisted in developing six of 12 online cases, now available for download, and has helped with online family advocacy and family outreach. She will be speaking at a conference for families with a child with a trisomy 9 condition in summer 2016 as well.
“Although we aren’t necessarily medical professionals, our research is considered by medical professionals,” Campbell said. “Everything we do is for the families in our project and families like them; to give them the best possible way to communicate with the professionals involved in their lives. Advocacy is the most important thing you can do as a professional, medical or educational.”
The TRIS project’s impact on families
Michelle Wilson, of Collinsville, was just 22 when her daughter, Faren, was delivered at 37 weeks because she wasn’t growing as expected. The first-time mother previously had no clue anything was wrong with her child. Six weeks later, she learned her daughter, hospitalized since birth, had trisomy 18.
“I know it sounds crazy, but when they told me she couldn’t survive, my initial thought was, ‘Oh no, I’ve given the name I love to a child that won’t live.’ I was just so numb. I had thought all along she would be normal. But this wasn’t the same kid. I didn’t know anything about trisomy,” Wilson said. “I heard all of this doom and gloom and bad news from the doctors. But then I got a gift basket at the hospital from another trisomy family that had heard of us.”
That family’s gift basket connected the Wilsons with support, information and resources, including the TRIS project and other parents who provided “the real facts about trisomy, not the general bad news and labels like ‘incompatible with life.’ Parents can tell you their experiences. It’s very helpful knowing there are other people out there dealing with this and how they are making it work. It’s helpful to be able to present the information we get through the TRIS project to medical providers. This is about parents educating each other and giving them real facts and information and research they can use to educate the doctors. Many of these children will need a lot of medical care and doctors are looking at them and wondering if their life is worth it. But, these kids can survive and even thrive.
“Faren has a lot of personality and spunk. She’s non-verbal and takes a while to learn things but she communicates. I can differentiate her sounds and behaviors. You learn your child and she uses a type of communication I’ve learned,” Wilson said. “It’s not all peaches and cream and rainbows and it’s not always a lot of fun raising a special needs child but Faren and these children are very much loved. There is a lot of joy for our families. That’s the main thing I want people to know. These kids are very much loved and they are worth it!”
Faren’s parents were told she couldn’t survive. She turned 15 on July 1 and she’s not alone, Bruns said.
“One little girl with trisomy was sent home from the hospital on hospice care. She is 18 now and the TRIS project has nine years of data on her,” Bruns said. The children have health issues, according to Bruns, “but are individuals with distinct personalities. They learn. They are extremely volitional. They smile. Many of the teenage girls even flirt. Some can learn to walk with a walker or stand with braces.”
“A big part of this project is about tearing down stereotypes and giving parents and health care providers accurate information,” she added, noting that the TRIS project will continue indefinitely as the data continually provides new insights and information.
**Caption: Helping families -- Deborah A. Bruns, right, holds Madison, a child with trisomy 18 whose family has benefitted from the Tracking Rare Incidence Syndromes (TRIS) project. Bruns, a professor in the special education program at Southern Illinois University Carbondale, is the principal investigator for the project which provides resources and connections for families affected by TRIS along with research to help families and healthcare providers. (Photo provided)