Down Syndrome and Decision-Making
It is encouraging to see that we recognize different months of the year to an awareness of particular issues, for example:
- September: National Ovarian Cancer awareness month
- November: National Alzheimer’s Disease awareness month
I only find it fitting to write my first blog post, being written in the month of October, on a topic special to my heart that is being made aware of this month- Down syndrome.
Down Syndrome has been a predominant part of my life for 14 years. My mother gave birth to a beautiful, special, baby boy on August 25, 2006. To my family’s surprise, he was diagnosed with the genetic disorder Down syndrome. Down Syndrome is a result of an additional copy of chromosome 21. Most disorders that are due to aneuploidy result in spontaneous abortion, or if the child does withstand, it is lethal quickly following birth. The clinical presentation of all individuals born with Down Syndrome varies from less severe, mild, to severe.
I’m interested in the fact that my mother declined the prenatal test that diagnoses chromosomal abnormalities, such as Down syndrome, leading to the unanticipated diagnosis with my baby brother. Today, prenatal screenings for Down syndrome are essentially offered to all pregnant women. What is the purpose of a positive prenatal screening for Down syndrome? Is there a cure? Is there a treatment? The answer is no. A positive prenatal screening for Down syndrome is simply information. Information about what the fetus will become. For many patients, this information is used to initiate a decision-making process. Women can decide whether to continue the pregnancy, and educate themselves on what Down syndrome is; to pursue adoption options; or to terminate the pregnancy. The decision-making process following a positive screening for Down syndrome is where my interests lie.
The decision-making process for women following a positive screening for Down syndrome cannot be easy. Factors that influence decisions include gestational age, maternal age, prior children, ethnicity, religion, delivery of information by provider, use of assisted reproduction technology, and many more! Personally, I feel that women should receive much more education about what down syndrome is before having to come to a conclusion about the fate of the pregnancy. Delivery of the test result from the provider is an important part of the decision-making process. It is important that the provider is informative, supportive, and positive when delivering that information to the family, rather than delivering negative notions. Moreover, all patients have different personal meanings that they correlate with Down syndrome that also affects their decision-making process. I would love to share mine.
When I asked my mother why she did not do the screening for Down syndrome, she said that the test wouldn’t initiate any decision-making process on the pregnancy, and decided she wanted to keep that information unknown. And wow am I lucky. My brother, Travis, is the absolute light of my life, who has taught me most about love, happiness, innocence, patience, and so many other things that I don’t think I would have a clue about without him. From my perspective, my parents, my brother and I, we were so happy to have a new member of the family, the fact that he had Down syndrome did not have any negative notions to us. As a matter of fact, growing up, him having down syndrome did not affect us- he was raised just as any typical child should be raised. Although I must acknowledge, this can vary each family depending on the severity of this disease in the individual. We were lucky that Travis has been a relatively healthy child. For Travis, he presents with stunted growth; low weight; small head, ears, eyes, nose, mouth; impulsive behavior; severe learning disability; severe delayed language and speech development; autism spectrum disorder; and vision problems. Those traits can be very scary in the eyes of most people, but for my family, we also see this: a CONTAGIOUS laugh, SO many smiles, VERY affectionate (always hugging, kissies, cuddles), SUCH a helper (always helping carrying groceries, helping with supper, just a helping hand), POSITIVE energy (always dancing), LOVES water (he’s such a good swimmer), ATHLETIC (I can’t explain how talented this kid is! He is a pro at bags, basketball, soccer, and catching footballs. This is very rare for Down syndrome), and so much more that makes him unique!
If I could tell a woman in the decision-making process one thing, it would be- screw the early onset alzhiemers, the congenital heart defects, the intellectual impairment, screw all of it. If you’re lucky enough to be the mother of one of these beautiful souls, throw all of those preconceptions, statistics and probabilities out the window, and take in everything they have to teach and offer you.
Reed, A.R., Berrier, K.L. A Qualitative Study of Factors Influencing Decision-Making after Prenatal Diagnosis of down Syndrome. J Genet Counsel 26, 814–828 (2017). https://doi.org/10.1007/s10897-016-0061-8