Mitigating Misinformation: Spreading Awareness for Down Syndrome
By Bailey Kamp
October is Down Syndrome Awareness Month. You’ve probably heard of and maybe even met someone with Down Syndrome, but do you really know what it is and why it occurs? Well, wonder no longer.
Down syndrome is a chromosomal condition associated with characteristic facial features, intellectual disability, weak muscle tone in infancy, and certain birth defects, a common one being heart defects. Chromosomes are how our DNA (the blueprints to our bodies) is packaged. Chromosomal conditions are caused by two kinds of changes in chromosomes: changes in the number of chromosomes (either having too many or too few) or changes in the structure of chromosomes, meaning that part of a chromosome may be missing, repeated or rearranged. While individuals usually have 46 chromosomes in each cell, individuals with Down syndrome, or Trisomy 21, have a full or partial 3rd copy of chromosome 21. Trisomy means there are 3 copies of a chromosome, hence the name Trisomy 21. Down syndrome is the most common chromosomal condition affecting ~1/700 live births.
Most cases of Down syndrome are not inherited, but occur as a random event during egg or sperm formation. This random event can cause each cell to have 3 copies of chromosome 21 (nondisjunction) or only some of the cells to have 3 copies and the rest to have the typical 2 copies (mosaicism).
Inherited cases of Down syndrome are uncommon and are due to what is called a translocation, which means part of one chromosome gets stuck onto another chromosome.The parent who passes down the chromosome with the translocation is unaffected because they have just 2 copies of each chromosome—the equivalent of 46 chromosomes, even if in a different arrangement. But when each parent passes down one of the non translocated copies and one parent passes down the translocated copy, the child ends up with a total of 3 copies.
There are both prenatal screening and diagnostic options for Down syndrome. Screening and diagnostic testing are not the same thing. Screening tests only estimate the risk of having a child with Down syndrome and can neither diagnose nor rule out Down syndrome. Screening tests include those that look only at certain analytes in the blood (integrated screen, quad screen); those that look at certain analytes in the blood and an ultrasound measurement (first trimester screening); and the relatively new non-invasive prenatal screening NIPS.
Diagnostic options are chorionic villus sampling, which is typically done in the 1st trimester between 10-13 weeks, and amniocentesis, which is done in the 2nd trimester between 15-20 weeks. If you’d like to learn more about genetic testing options during pregnancy, check out our Resources page or schedule an appointment with a genetic counselor.
Having a diagnosis allows women to make decisions about their pregnancy. For some women, this may mean deciding not to continue with the pregnancy, or having an abortion. For others, however, a diagnosis is an important first step of many in planning for the birth of their child:
- scheduling a fetal echocardiogram to know whether or not there is a heart defect that may require surgical intervention after birth
- learning whether or not the hospital where they had planned to deliver is equipped to provide necessary care, specifically if there is a severe heart defect
- gathering information and resources
- finding support organizations and groups
- preparing themselves, their partner, and family and friends to be excited to welcome a child who has an unexpected diagnosis.
Some women who choose to give birth go on to work with an adoption agency to identify a family for their child. One such agency is the National Down Syndrome Adoption Network.
Although Down syndrome may sound like a clear diagnosis, it can be anything but. As with many genetic conditions, Down syndrome has a great deal of variability from person to person. For example, while some individuals with Down syndrome have facial features such as almond shaped eyes, slightly smaller, flatter noses, and light spots in their eyes called Brushfield spots, some do not. All individuals have features of their biological families as well. Heart defects are often common amongst individuals with Down syndrome, but again, not all individuals have them. Many myths about Down syndrome are still circulating today, largely due to a lack of information or misinformation. Below, I will debunk some of the most common myths.
Myth 1: Most women who have babies with Down syndrome are of advanced maternal age (35 years or older).
The Facts: Most children with Down syndrome are born to women under the age of 35. This is because most babies are born to younger women!
Myth 2: All individuals with Down syndrome have severe intellectual disability.
The Facts: Most people with Down syndrome have mild to moderate intellectual disability. This is just one part of who they are and they possess many other talents and abilities. There are several state run programs that provide early intervention to support their development. Links to find these resources have been provided below.
Myth 3: People with Down syndrome are always happy.
The Facts: People with Down Syndrome experience the full range of emotions and have feelings like everyone else.
Myth 4: People with Down syndrome can’t work or be active members of their community.
The Facts: People with Down syndrome work in multiple capacities including offices, hospitals, warehouses, nursing homes, and restaurants. Some individuals are self employed. They utilize their talents and abilities to succeed in their chosen role. They also go to school and engage in sports, art and music programs, and other activities in their community. Individuals with Down syndrome can be both valued and contributing members to their community.
Myth 5: Individuals with Down syndrome have short life spans:
The Facts: The average lifespan of individuals with Down syndrome has increased significantly over the last 30 years. It is now 60 years, with many individuals living into their 70s.
To learn more about Down syndrome and the organizations that support individuals with Down syndrome and their families, follow the links below:
- International Down syndrome organizations and clinics
- Find local Down syndrome parent groups near you
- National Down Syndrome Congress: Information for new and expectant parents
- National Down Syndrome Advocacy Coalition
- Global Down Syndrome Foundation
- National Association for Down Syndrome
- National Down Syndrome Society
- National Down Syndrome Adoption Network
- Down Syndrome Affiliates in Action
- The Lucky Few Podcast
To learn more about state and federally run programs that support individuals and families with Down Syndrome with things like insurance and developmental interventions, follow the links below: