Living with Down Syndrome

by Lindsey Alico

In February and March of this year, students of the Human Genetics Program had the privilege of talking with Kathryn (“Kate”) Schaub and Rachel Adams. Kate and Rachel each have a son with Down syndrome. According to Google Health, “Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.”More specifically, the presence of all or part of an extra chromosome 21 can cause the widely recognized physical features, medical conditions, and cognitive delays associated with Down syndrome. However, after listening to Kate and Rachel tell their stories, I was inspired to invent an entirely different definition of the disorder, one which would identify people with Down syndrome as whole, unique individuals.

Our talks with Kate and Rachel were arranged by second-year student Katharine Stoate. At her clinical rotation at St. Vincent’s Catholic Medical Center, a group of genetics professionals sat down with Kate and Rachel to discuss their experiences with having a son with Down syndrome in the current health care system. This meeting was extremely beneficial for Katharine who believes “that one of the best ways to learn about genetic conditions and how to help support families touched by genetic conditions is from first-hand experiences.” After hearing the stories of both Kate and Rachel, Katharine was compelled to share this knowledge with her classmates. Her goal was to promote a greater understanding of Down syndrome while discussing effective ways for genetic counselors to provide support for families affected by the condition.

On February 1st, Kate opened our first meeting by telling the story of her son Adam (now 2 years old) who was born with Down syndrome. Originally from Morristown, New Jersey, Kate has been living and working in New York City for the past 10 years. After finally finding a cause for 10 years of unexplained infertility, Kate and her husband were advised to try in vitro fertilization (ivf). This process led to the successful conception of Kate’s first child at 40 years old. Because of her age, Kate was told by her obstetrician that her chance to have a child with Down syndrome was 1 in 75. After prenatal screening, Kate was referred to a genetic counselor when this chance increased to 1 in 7. Although a diagnostic test was never performed, an atrioventricular septal defect found on her 20 week ultrasound made the possibility of having a child without Down syndrome very unlikely. At this point Kate contacted the National Down Syndrome Society who put her in touch with another family living with the condition. Kate described this as one of the most helpful resources she encountered, as it grounded a very frightening and abstract experience in reality. It allowed her to understand that in spite of her feelings of grief and anger surrounding the diagnosis, she wanted her baby just the same.

Rachel brought a literary perspective to the discussion as a professor of English and American Studies at Columbia University as well as a published author. She had written about her experiences with the health care system in an unpublished memoir which she read aloud to the class. Rachel’s story began when she was pregnant with her first son Noah. The result of her prenatal screening showed her chance to have a child with Down syndrome as 1 in 3,000. Although this result was described to her as “normal,” Rachel admits that the desire for her first child to be “perfect” led her to pursue amniocentesis. This diagnostic procedure told her that Noah had a normal, 46, XY karyotype. During Rachel’s second pregnancy with her son Henry, her prenatal screening revealed a result of 1 in 2,000. Feeling comfortable with this risk for Down syndrome of 0.05%, Rachel declined amniocentesis.

Despite these odds, on Christmas day of that year Rachel’s son Henry was born with Down syndrome. When asked about her opinion of prenatal screening, Rachel said that “even if you understand it’s not definitive, the test encourages you to feel secure about the genetic health of the baby, but leads to a horrendous shock at birth.”Although for this reason Rachel would not recommend screening tests over diagnostic procedures, she is still very grateful that she chose not to have an amniocentesis. She is not sure now what she would have done had she received the diagnosis in advance. However,what Rachel does know is that her son Henry has grown to be a wonderfully sociable, charismatic and curious 2 year-old boy with Down syndrome. No pamphlet, website or medical dictionary could have prepared her for that.

Please look for Part II of this article in the fall edition of Gene Scene to learn more about Adam and Henry! Also read what Kate and Rachel said in their exclusive interviews with me and what they would like genetic counselors to know about having a child with Down syndrome.