TRIS - Tracking Rare Incidence Syndromes Deborah A. Bruns, Ph.D. Shirley Lockwood, LVN Michelle Evans-Hayden, B.I.S SOFT Conference Oak Brook, IL

Purpose of TRIS project The TRIS project seeks to increase the knowledge base on rare incidence trisomy conditions and to make this information available to families and interested educational, medical and therapeutic professionals. TRIS_informational_flyer_2005_May.pdf

TRIS beginnings Parent/family concerns on Tri-family and Tri-med lists: –Family needs (e.g., information) –Interactions with professionals –Medical concerns (e.g., surgery) Online planning chats TRIS was “ born ” in 2003

TRIS to date Initial funding: Noah’s Never-Ending Rainbow, SOFT, T18 Support Foundation, Inc. Equipment: laptop, transcription machine, materials for mailings Formation of TRIS Advisory Committee TRIS Awareness materials –Pens –Magnets –Luggage tags –Note pads Article in Nov/Dec 2005/ January 2006 SOFT Times (p. 33)

TRIS to date continued Beginning academic year: –Graduate Research Assistant –Undergraduate Assistant –Have hired for both positions for (March) Annual Clinical Genetics Meeting: Information table 2006 (July) Annual SOFT Conference: Session 2006 (October) Annual Division for Early Childhood Conference: Poster session

TRIS PILOT SURVEY Development of pilot materials –Part I: Pregnancy and birth –Part II: Health and medical concerns –Part III: Family issues Feedback from TRIS Advisory Committee on content and presentation Interested Parents Database Distribution to parents in PDF format, fillable Word, and by snail mail

TRIS PILOT SURVEY continued Packets included: –Cover letter –Parts I, II and III and comment forms –Return envelope for snail mail Data collection: March – June 2006 –Postal mailing (8) & electronic mailing (32) –Additional mailings (26) –Receive first surveys – snail mail & electronic –Closed survey in early June Total interested = 80; total sent = 66 Total TRIS Pilot Surveys received=27 (41%) 3 excluded (internat’l)=24 for analysis (36%)

TRIS PILOT SURVEY Part I RESULTS Who returned surveys? N = 24 with complete data for 19 (79%) –46% parents with living children (11); 54% parents with angels (13) –46% parents of children with T18* (11); 54% parents of children with T13* (13) * Includes full, mosaic and partial trisomy “flavors” –Highest education level: H.S. graduate (N = 5, 26%) to advanced degree (N = 5, 26%) –19 (100%) reported being married and 16 (84%) earning $50,000 or more in annual household income

TRIS PILOT SURVEY Part I RESULTS continued Pregnancy: –Pregnancy age = 22 to 43 years (28-60 years old now) –Only 9% (2 of 22) were aware of trisomy conditions –8 of 22 children’s trisomy condition was detected prenatally (36%) including ultrasound or sonogram (6; 75%), amniocentesis (7; 88%) or AFP test (4; 50%) –Seven mothers (88%) also met with a geneticist. –Trisomy condition confirmed at 19 – 36 weeks of pregnancy –2 of 21 experienced polyhydraminos (10%) –5 of 21 were diagnosed with preclempsia (24%) Labor and delivery: –Labor ranged from 0 (planned caesarean) to 25 hours (M = 8.5 hours) –Majority were vaginal births (14 of 20, 70%) –Trisomy child was 1 st child for 8 of 22 parents (36%)

TRIS PILOT SURVEY Part I RESULTS continued Range in gestational age: weeks (M = 37.7 weeks) Range in weight: grams (M = 2610) [one ounce = 28 grams] Range in length: inches (M = 18.3) Gender: 11 girls and 13 boys At time of survey completion: 11 living (46%) and 13 angels (54%)

TRIS PILOT SURVEY Part I RESULTS continued Common physical characteristics –Low set ears (16 of 20; 80%) –Small jaw (8 of 20; 40%) –Microcephaly (9 of 20; 45%) –Extra finger or toe (10 of 20; 50%) –Cleft lip and/or palate –Hernia

TRIS PILOT SURVEY Part I RESULTS continued Common medical issues –Respiratory distress (15 of 20; 75%) –Feeding difficulties (15 of 20; 75%) –Kidney problems (6 of 20; 30%) –Heart defect: ASD = 30% PDA = 25% VSD = 40%

TRIS PILOT SURVEY Part I RESULTS continued 12 of 20 (60%) taken to NICU during first 24 hours: –4 stayed less than one week –5 stayed one to two weeks –2 stayed two to four weeks –1 stayed five to eight weeks Equipment in NICU: –Nasal canula for oxygen (5) –Ventilator/respirator (5) –Apnea monitor (10) –Heart monitor (7) –Special feeding (10) including gavage feeding and use of Haberman bottle –Billi lights for jaundice –Pulse oxymeter

TRIS PILOT SURVEY Part I RESULTS CONTINUED Procedures in NICU –Intubation (5 of 20, 25%) –Ultrasound (10 of 20, 50%) –Echocardiogram (9 of 20, 45%) –X ray series (9 of 20, 45%) –Auditory brainstem response (ABR) hearing test –Blood tests –Swallow study / Bronchoscopy

TRIS PILOT SURVEY Part III RESULTS Spouse identified as most supportive immediate family member: –“He walked the journey of carrying a dying baby to term and losing a much loved daughter.” –“He's the most capable of helping.” –“He is [name]'s father and we support each other.” Maternal grandmother identified as most supportive extended family member: –“She is always there to talk to.” –“She was here for [name]’s birth, stayed to help, will keep her overnight – has a way with her. She mourned the diagnosis with us and would be here in a flash if we needed her.” –“She has come and stayed with us and helped with the care of the family and child. She also helps as a sounding board to issues that come up.”

TRIS PILOT SURVEY Part III RESULTS continued Many parents went to trisomy related websites for information prior to and after child’s birth including: – – – – karens/ karens/

TRIS PILOT SURVEY Part III RESULTS continued Friends and co-workers provided support but: –“…Since he died, they didn’t know what to say so they said nothing. That was and is very painful.” –“No one really knows what to say and although they tried they either tried to convince me that ‘he’d be ok’ or they offered prayers.” Unmet needs include: –Emotional such as need for counseling –Financial such as funds for equipment –Sibling relationships –Spiritual needs

What’s next for TRIS?? Revision of TRIS Survey Outreach efforts and continue to add names to database including other rare trisomy “flavors” Upload revised TRIS Survey to website to collect and download data TRIS interviews Secure toll free phone number Continue to submit conference proposals Prepare informational materials including TRIS brochure, flyers, newsletter articles and manuscripts for education, family and medical related journals and publications