My name is Debbie Bruns. I am the Principal Investigator of the Tracking Rare Incidence Syndromes (TRIS) project. Since the project began in February 2007, approximately 500 families from around the world have enrolled with over 70% completing one or more surveys. Resulting data is compiled, analyzed and disseminated via conference presentations and publications. The data has reached clinical geneticists, neonatal nurses and early intervention (working with infants and toddlers with disabilities or developmental delays) professionals.
You may wonder why I have this interest. I do not have a child with a rare trisomy condition but worked with three preschoolers with trisomy 18 (t18) when I was a classroom teacher (my “other life” before pursuing my Ph.D. in Early Childhood Special Education). They had very different personalities and temperaments. Each had preferences for different people, toys and activities. Their main similarity was medical. They all had respiratory issues and feeding difficulties, common conditions for the syndrome. Apnea is a leading cause of early death. The last point is especially interesting as most research in the past 30 years cite less than 10% of infants reach their first birthday.
The girls I worked with were three and four years old and this was in the early 1990’s when the reach of science and medicine were much more limited than today. When I first researched the condition, I was met with autopsy photos on the fledgling internet. Yet, the girls in my classroom interacted with adults, activated toys and a myriad of other developmental skills. True, they had significant delays but each was a unique little person with gifts and talents that my classroom staff and I valued.
The TRIS project’s mission statement is to increase awareness and knowledge for families and professionals touched by rare trisomy conditions and aims to facilitate improved decision making for optimal services and supports for children and their families. This is especially important in the current climate of cutbacks in healthcare. Too often, infants and children with rare trisomy conditions such as t18, trisomy 13 (t13) and trisomy 9 (t9) are denied medical care.
Many parents are only offered comfort care for their newborns rather than receiving information about possible problems during the newborn period and their resolution such as respiratory assistance with oxygen, mechanical ventilation or placement of a tracheotomy. Data from the TRIS project makes an argument for medical interventions that encourage long term survival such as cardiac surgery and an enhanced quality of life. The project also uses photos to make the children “real” to the naysayers. It’s one thing to review population statistics that reinforce low survival rates; it’s another to look at a smiling face or see arms reaching for a loved one.
I hope to share more here about children with t18, t13 and t9 and other “rare rare” conditions such as trisomy 8 mosaic and trisomy 6p. My entries will be positive and include photos because that is the only way I know how to spread the word about the worth of these children. I hope you’ll join me.
Dr. Debbie Bruns is an Associate Professor in the Department of Educational Psychology and Special Education at Southern Illinois University, Carbondale. She has had an interest in rare trisomy conditions for over 20 years. She began as a teacher in New York City, working with young children with multiple disabilities including preschoolers diagnosed with trisomy 18 and, now, as the principal investigator for the Tracking Rare Incidence Syndromes (TRIS) project.