Living With Trisomy 13
An outreach for trisomy and other rare diagnoses
What is Trisomy 13 - Patau Syndrome?
Genetic Profile ~ Diagnosis
(A genetic disorder where a child has three copies of the chromosome 13)
DEFINITION
Trisomy 13 Facts - from Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) Information from Dr. John Carey, SOFT Medical Director Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants. Trisomy 13 is due to the presence of an extra #13 chromosome....
ALTERNATIVE NAMES
A special thanks to Kelly Essem Whistler for allowing us to use her video
What to expect when expecting a child with Trisomy
Trisomy 13 terms from around the world:
Patau Syndrome
Patau’s Syndrome
Trisomy 13 Syndrome
Trisomy
D Syndrome
Trisomie 13
Trisomee
Trisome
Trisomic
Chromosomal Abnormalities
Chromosome Anomalies
Disorder
Fetal Aneuploidy
Causes/Risk Factors
Causes, Incidence and Risk factors
SOFT Support Organization For Trisomy 18, 13 and Related Disorders
Trisomy 13 Facts
– Heart Defects, Medical Problems, Common Disorders and Routine Follow up care
Symptoms
Name and type of trisomy
Josiah (Full)
Natalia (Full)
You can use the SEARCH function on this site to view many of the children who have had these Symptoms.
View photos and read how these kids are doing.
Exams and Tests
WHAT TESTS SHOULD BE DONE ONCE MY CHILD IS DIAGNOSED WITH TRISOMY
13 (Prenatally & At Birth)
By Christine Nelson MD,
Pediatric Hospitalist
Treatment
For Health Professionals ~ For Patients Families - Articles & Support Resources
From Medical Authorities & Families Living with the Genetic Profile of Trisomy 13/Patau
Syndrome
National Institutes of Health
Office of Rare Diseases Research (ORDR)
Genetic and Rare
Diseases Information Center (GARD)
Treatment of children with trisomy 13 is planned
on a case-by-case basis. The type of treatment given depends on the patient's individual
condition.
SYNONYMS: Patau syndrome; Trisomy D syndrome. TREATMENT- Standard Therapies: Because
of the high mortality rate, management of children with trisomy 13 is complicated.
No standard therapies exist, but symptoms can be treated medically, surgery can be
performed for many of the manifestations. Because 80% of infants have a cogenital
cardiovascular malformation, cardiac surgery can be considered for a child who is
older than a few weeks or months, although few data exists to help in the risk/benefit
decision of such intervention.
(You can SEARCH this site for stories) Suggestions
for care include neonatal echocardiography, ophthalmology consultations, referral
to a feeding specialist or team, referral to early intervention and periodic hearing
tests. Older children require regular checks for scoliosis.
Intensive cardiac management in patients with trisomy 13 or trisomy 18
Am J Med Genet
Part A. ...Treatment option for cardiac lesions associated with these trisomies.
These data are helpful for clinicians and families to consider in the optimal treatment
of patients with these trisomies. © 2008 Wiley-Liss, Inc.
California Department of Public Health – California Birth Defects Monitoring Program
Medical Care Treatment - Any course of treatment will be decided on an individual basis. Routine follow up care for a child with Trisomy 13 includes cardiac evaluations, eye evaluations, MRI of the head, abdominal ultrasound, hearing tests, referral for infant pre-school/early intervention programs, scoliosis checks through childhood and getting routine immunizations2. Family support and genetic counseling are recommended.The California Department of Public Health highlights the photo of “Tucker Reite” on their Trisomy 13 information page. Tucker lived for 2
years with trisomy 13. After having lost Tucker, Jim and Lori Reite opened their hearts again when they heard through this web site message boards that a little boy was in need of adoption. Meet “Joey Reite”
Support Groups
Living with Trisomy 13 -- www.livingwithtri13.org
http://livingwithtrisomy13.org/messageboard.htm
Trisomy Advocacy Group (Tag) www.trisomyhelp.org
Trisomy Family Network (TFN) www.trisomyfriends.net
Click here for Support Group list
Information from Medical Authorities
Articles & Resource links From Medical Authorities
You see the typical literature
on Patau Syndrome Trisomy 13, but you will not see much hope, nor the many photos
and videos of living survivors.
You will only find the reality of this diagnosis on
this site, with the largest collection of "realistic hope" of how these kids live
and are loved.
Outlook (Prognosis)
***We believe ***
Tenecia Hargrave is the oldest living Full
Trisomy 13 born in 1982
Lynne King is the oldest living Partial Trisomy 13 born in
1959,
Becca Trewin is the oldest living trisomy 13 Mosaic born in 1975
Carrying to term, will give you the opportunity to embrace your child,
whether they
live moments, hours or days.
A Quick look at Patau Syndrome Trisomy13 VIDEOS off BING
More tribute legacy and
informational videos for Trisomy 13. (55+)
Possible Complications
Heart defects, brain defects, cleft lip, cleft palate. The
most severe are visual abnormalities, omphalocele, Proboscis and holoprosencephaly.
Trisomy 13 Family Blogs
Living with Trisomy 13 ~ NEWS & UPDATES
Have a child living with Trisomy 13 syndrome - a Patau syndrome survivor?
We would
love to add your child to our Album..
Click here to send us their information.
A special thanks to Jill DelSignore for allowing us to use her video
We are the World of Trisomy 13 &18 ~ 2012 Awarenes
© All text and graphics are copyright of Living With Trisomy 13 www.livingwithtri13.org and all other registered domains to this company
All Rights Reserved. Copyright 2012 .
Cover photo of Pamela Sullivan & her precious daughter Maria, copyright Pamela Sullivan 2004, used with permission.
If We Hold On Together Song Copyright 2002 by Patricia Welch, Ltd. All rights reserved. Used with permission.
