“Your baby has a 91% chance of having Down syndrome,” the genetic counselor told me over the phone. It was raining, and I was in the car, driving back home after having dropped my older son off at his aunt’s house for the day.
I was 15 weeks pregnant, and at the age of 37, mine was considered a “geriatric” pregnancy, so taking a non-invasive pre-natal test (NIPT) was standard procedure. The NIPT involved extracting and analyzing free-cell fetal DNA found in a sample of the mother’s blood. The test could give parents an idea of the likelihood of their child having an array of genetic disorders, with particular accuracy for identifying Down syndrome. Also known as Trisomy 21, DS occurs when an extra copy of the 21st chromosome develops during cell division. As an added bonus, the NIPT also gives parents the opportunity to learn the baby's gender much earlier than the standard 20-week anatomy ultrasound. I already had a two-year-old boy and was really hoping for a little girl to complete our family. A positive result for DS had been far from my mind.
As the NIPT is only a screening test, a diagnostic amniocentesis confirmed the results a few days later. I was having a baby boy with Down syndrome. At the time, I knew almost nothing about DS, having had only a few, transient encounters with individuals with DS up until this point. There had been a man with DS who would sometimes attend my childhood church, and I had watched Corky and his family on the show Life Goes On as a kid in the early 90s, but that was about as far as my knowledge of DS went.
After receiving the diagnosis, I was scared and nervous about what the future would hold for my baby. However, my protective maternal instincts kicked in, and I was determined to learn and do whatever was necessary to give him the best life possible. For the remaining months of my pregnancy, I drowned myself in information. I bought many books, Googled more than was probably healthy, and joined Facebook support groups filled with other moms raising kids with DS. I did my best to prepare for the unexpected and unknown.
When Oliver, or Ollie as we all call him, was born, it was love at first sight. He came a few weeks early via an unexpected c-section, but other than having to spend some time on the light bed for jaundice, he required no extra care and was a healthy and beautiful baby boy. I very quickly learned that his needs weren’t so “special.” Like all babies, diapers needed changing, food was a priority, and being held and cuddled was a preferred activity. Ollie showed me he would reach his milestones, just on his own schedule and at his own pace.
Parents and caregivers in the Down syndrome community like to refer to ourselves as, “The Lucky Few,” and, five years into our journey, I can say without a doubt that it’s a true statement. I feel extremely blessed and fortunate to be Ollie’s mom. Admittedly, it’s not all rainbows and unicorns, and there are extra challenges that come along with having that extra 21st chromosome. Due to a respiratory virus, we spent five weeks in the hospital when Ollie was 13 months old, of which 19 days were spent on a ventilator in the PICU. Every fall and winter for the next few years, we spent a few days to a couple weeks in the hospital due to more respiratory viruses. There’s a long list of specialists and therapists that we see regularly -- occupational therapy, gastroenterology, pulmonology, genetics, to name a few. There’s the stress of IEP meetings and the pressure of having to make decisions about the right kindergarten placement.
However, none of these stressors compare to the extra joy I experience every day being Ollie’s mom. His smile, laughter, and joy for life is infectious. He lights up whatever room he enters. Ollie has taught me to slow down and celebrate the small things. We sing and dance on a daily basis in our household. There are no small milestones – everything is celebrated! I’ve also discovered a wonderful, supportive community of fellow parents around the world that I know have my back should I ever need the support.
Not only have I felt supported by those in the DS community, but the support of my ICON family has also been an invaluable part of our journey. I feel blessed to work for a company that allows me the flexibility to attend appointments and care for my family without having to worry about the security of my job. I’ve been with ICON for almost 12 years now, and my loyalty is rooted in the trust that my team has in me to do my best at work, while also giving me the freedom to be my best for my family.
Facts about Down syndrome:
- World Down syndrome Day (WDSD) is celebrated on March 21st (3/21) because individuals with DS have three copies of the 21st chromosome. The day is often celebrated by wearing brightly colored or mismatched socks because chromosomes happen to look a little like socks.
- Down syndrome is the most common genetic disorder and occurs in approximately 1 out of every 700 births.
- Individuals with Down syndrome are more likely than the general population to have other health conditions, such as celiac disease, leukemia, Hirschsprung’s disease, congenital heart defects, Alzheimer’s disease, and speech and language impairments.
- While individuals with DS often have common characteristics, such as almond-shaped eyes, low muscle tone, and a mild to moderate intellectual disability, DS doesn’t affect every person the exact same way. Just like someone without a genetic condition, individuals with DS are each unique with their own strengths, challenges, and abilities.
- The future is limitless for someone with DS! Men and women with DS are Ironman athletes, models, actors, photographers, writers, fashion designers, bakers, and entrepreneurs!