Trisomy Awareness

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The public has created a phenomenon by raising awareness of different diseases or health-related issues. Whether it is to move one step closer to finding a cure or raising money to support patients with different health conditions, the amount of participation has increased. For example, the month of March is the National Trisomy Awareness Month, and World Down Syndrome Day is March 21. The month is dedicated to educating people who might be oblivious to the different types of trisomy conditions. According to the U.S. Department of Health and Human Services (DHHS), people are normally born with 23 pairs of chromosomes, which totals 46 chromosomes. In some instances, individuals are born with an extra chromosome, which can be a strong indicator of having a trisomy condition and can lead to severe health conditions (NICHD Research Advances Understanding of Trisomy Conditions).

 

Common Types of Trisomy Conditions:

Trisomy can occur at any chromosome, but the most well-known trisomy syndromes occur at the 13, 18, and 21 chromosomes. In the state of Texas, rates of Trisomy 21 between 2010 and 2013 were reported at an approximately .15 rate (March of Dimes, 2019).

Down Syndrome (Trisomy 21)

Down syndrome is a genetic disorder that occurs when an individual has an additional full or partial copy of chromosome 21. Some of the most distinguishing characteristics of individuals diagnosed with Down syndrome are their distinct facial appearance, upturned eyes, and its comorbidity with an Intellectual Developmental Disability (IDD). Additional research reports Down syndrome as the most common genetic cause of an intellectual disability (Karam et al., 2015).

    • 1 in every 961 (CDC, 2013)
    • IDD and developmental abnormalities (CDC, 2013; DHHS, 2013)
    • Physical and organ abnormalities  (DHHS, 2013)

Edwards Syndrome (Trisomy 18)

Edwards syndrome is a chromosomal condition associated with abnormalities in numerous parts of the body. According to the National Institutes of Health, some distinguishing characteristics of Trisomy 18 include a small head, jaw, and mouth; and clenched fists with overlapping fingers (2019). Only about 5-10 percent of individuals diagnosed with Trisomy 18 live past their first year.

    • 5-10 percent of births each year in the US (DHHS, 2013)
    • Severe IDD (DHHS, 2013)
    • Heart and organ abnormalities (DHHS, 2013)

Patau Syndrome (Trisomy 13)

The National Center for Advancing Translational Sciences describes Trisomy 13 as a “chromosome disorder with three copies of chromosomes in the cell body” (NIH, 2019). Some health related issues Trisomy 13 can lead to include low birth weight, cleft lip, and heart-related problems. Newborns with Trisomy 13 are sometimes born with extra fingers or toes (NIH, 2019).

    • 1 in 10,000 to 16,000 live births each year worldwide (DHHS, 2013).
    • Severe IDD (DHHS, 2013).
    • Physical and organ conditions (DHHS, 2013).

Risk Factors

While risk factors for Trisomy 13 and Trisomy 18 have not been identified by research, a few predispositions have been identified for Trisomy 21. Predispositions include advanced maternal age, having already one child with Trisomy 21, and parents who are “carriers of the genetic translocation for Down syndrome” (Mayo Clinic, 2018).

A Dose of Positivity

Learning that your child or relative has been diagnosed with a trisomy syndrome can be stressful. However, it is also important to focus on the positive aspects.

Researchers surveyed parents of individuals diagnosed with Trisomy 18 and Trisomy 13 to get insight on their perspective and experience. Results were as follows: “Despite their severe disabilities, 97% of parents described their child as a happy child. Parents reported these children enriched their family and their couple irrespective of the length of their lives” (Janvier et al., 2012). While this population have a high mortality, a study by Meyer et al. showed evidence of increased survival of infants and children with Trisomy 18 and 13 who had more medical interventions (2015).

According to the National Down Syndrome Society, the life expectancy of individuals with Down syndrome has increased through the decades. They stress that individuals with Down syndrome attend school, work, participate in decisions that affect them, have meaningful relationships, vote, and contribute to society in many wonderful ways. Contributing to these positive factors include quality educational programs, a stimulating home environment, good health care, and positive support from family, friends and the community, which enables people with Down syndrome to lead fulfilling and productive lives (NDSS, 2019).

Resources and Sources of Support

Although there is no cure, a wide variety of different resources and centers of support exist in order to get the best medical attention and support for patients and/or families.

The most immediate way to seek help is through a family doctor, pediatrician, or counseling. Different support groups such as Chromosome Disorder Outreach (CDO), Hope for Trisomy, Support for Organization 18, 13, and Related Disorders (SOFT), and Unique – Rare Chromosome Disorder Support Group, can be a great resource for trisomy patients/families (NIH, 2016). Trisomy.org and internationaltrisomyalliance.com provide general information, links to services, and other beneficial information for family members. Local sources include the Rio Grande Valley Down Syndrome Association, which seeks to provide support and promote the well-being of individuals with Down syndrome and their caretakers.

For inquiries about state programs and services, call 2-1-1 or visit 211.texas.org. Other sources of help in the RGV include Tropical Texas Behavioral Health – IDD (http://www.ttcmhmr.org/ ) and Texas Health and Human Services Early Childhood Intervention Services to find a service/program near you at citysearch.hhsc.state.tx.us.

 

(Co-authors include Dr. Mercado’s Mental Health Lab at UTRGV: Stephanie Arellano, Abigail Nunez-Saenz, Andy Torres, Jose Garcia, Paola Salazar, and Maria Sevilla-Matos.)