Down Syndrome Diagnosis Story: End the Stereotypes
In light of World Down Syndrome Day on March 21st, I am calling for people around the world to End The Stereotypes! (worlddownsyndromeday.org)
I’m also sharing my story with others who might be receiving a diagnosis and also to spread awareness to shatter negative misconceptions surrounding Down Syndrome, also known as Trisomy 21.
*So what exactly is Down Syndrome? Down Syndrome is the most common genetic disorder in the United States and around the world. Babies born with Down Syndrome have a 3rd copy of the 21st chromosome in some or all of their cells and is characterized by certain physical traits and attributes. According to the CDC, “approximately one in every 772 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,100 babies with Down syndrome are born in the United States each year. (De Graaf et al., 2022).” (www.ndss.org)
*Here’s my story: Last year, I gave birth to a beautiful little boy, who happens to have Down Syndrome. During my pregnancy, I took an NIPT (Non Invasive Prenatal Testing), which checked my blood for potential genetic abnormalities & chromosomal disorders by studying my fetus’ DNA. One week later, I received a phone call confirming that my test came back 98.3% positive that my beautiful baby boy would have Down Syndrome. I was then referred to Advanced Fetal Medicine, where I was encouraged to get an amniocentesis to confirm these results and obtain an official diagnosis. I refused the invasive test because of the 1% chance that the amniotic sac could rupture during the procedure, and because I knew deep inside my heart that I would love my son if he received this diagnosis or not. Me and my husband made the decision to wait until birth to obtain an official diagnosis.
I still remember the deep pain I experienced in the early days of my pregnancy, especially after being told all of the horrible and negative things associated with Down Syndrome. The Advanced Fetal Medicine Doctors mentioned elective abortion, which was an absolute: No! I loved my baby boy already and could not fathom ending his life. Even still, I cried. For months, I struggled with crippling fear, anxiety and sadness and went through a grieving process of sorts. I had no idea of knowing the beauty of what laid ahead. I devoured every online article, story, testimony and bible verse. I prayed daily for each of us and especially for my little boy. There’s some scary stuff out there on the web but the stories from families who walked through these waters resonated with me most and gave me a glimmer of hope and something to look forward to in my future. I slowly came to acceptance and trusted that God does not make mistakes and I knew that if my son had Down Syndrome, he would be incredibly perfect to us and so deeply loved. We went though the rest of the pregnancy not knowing if he had it; however, around 20 weeks gestation, it was confirmed that he did have an AVSD (Atrial Ventricular Septal Defect/Congenital Heart Defect), which was common for children with Down Syndrome so we went about the pregnancy assuming he most likely would have it. He had no other soft markers on any other ultrasounds. So we waited, patiently, for his arrival.
When he was born, the first thing I did before they whisked him away to the NICU for testing, was to grab his little hand to see if he had Down Syndrome. In that moment, when I saw that single line across his hand, the Palmer Crease, I knew that he had it and that my life was forever changed, for the better! We named him Lucas (meaning the bringer of light) Asher (meaning happiness & blessed). And let me tell you, he has truly lived up to his name. He has brought his endless light, unbelievable love and pure joy to our entire family! We are beyond blessed to have this tiny soul, who happens to have Down Syndrome, in our lives!
Our little guy did have his fair share of health issues after birth but that didn’t stop him from being an incredible human being. He spent his first 28 days in the NICU due to feeding issues associated with his heart condition and he eventually needed a g-tube (gastrointestinal tube) to ensure he would obtain adequate nutrition after leaving the hospital. Although he had a few extra needs (i.e. g-tube feedings & extra appointments with his pediatrician, cardiologist, speech & physical therapists), he was and still is one of the greatest gifts we could’ve ever received, and we wouldn’t change him for the world! As an infant, he was like any of my other babies reaching milestones; such as, smiling, laughing, cooing, babbling, sitting up, rolling over, moving around and saying words. At 7 months old, he had his Open Heart Surgery to correct his heart defect and praise be to God, it was successfully repaired. Several months later, the g-tube was removed and he has flourished in so many incredible ways!
This little heart warrior of ours is now a newly minted one year old and is just the light of our lives! His fight for life and his strength to endure things that most adults haven’t even experienced is astounding. His smile truly lights up a room and he genuinely loves people. Every doctor, nurse, friend, family member and random people where ever we go, fall in love with his endearing smile and joyful demeanor. He is alert and curious, determined and active, smart and strong! He loves snuggling, kisses, rolling and scooting around his room, playing with all his Lovevery toys (Lovevery.com), reading books, splashing in water, watching Bluey and Mrs. Rachel, going for walks and being silly. He has overcome so many obstacles as a young baby and continues to defy the stereotypes and negativities surrounding his diagnosis as a one-year-old. He is worthy of life and fully capable of achieving things! Having him in our lives, has taught us many things and has opened our eyes to a different way of life. We have bravely entered into this beautiful and accepting community of The Lucky Few (The Lucky Few Foundation) and we have vowed to be his biggest advocates and to help break down the walls, so that people could know that a Down Syndrome diagnosis is not something to fear, or shame, but rather something to celebrate! That extra chromosome brings extraoraordinary strength and love and joy to those who are privliedged to experience it.