How sweet is 19 month-old Natalie?! Today her mama, Maranda, shares the story of how she and her husband found out their little girl had Down syndrome and how they decided to share the news with family.
How/when did you find out your loved one had Down syndrome?
Our journey with Down syndrome began at my 20 week ultrasound of Natalie. During the ultrasound I could tell that something was abnormal. The ultrasound technician spent what seemed like an eternity capturing images of Natalie’s heart. We met with my doctor after finishing the ultrasound and she told us that an echogenic focus was present on Natalie’s left ventricle. She was very positive and presented us with some statistics of babies with an echogenic focus and normal development but she ended her statement by saying that the presence of an echogenic focus is also a soft marker for Down syndrome. We were at a loss. We opted to forgo any prenatal testing during my pregnancy with our (at the time) 18 month old son. We had so many questions. What do we do now? Do we have any prenatal testing? Do we wait and see? Is her heart healthy? I began to panic about the unknown. We opted to see a perinatologist and have a 3D ultrasound performed.
The perinatologist did not see any other soft markers for Down syndrome but he offer a maternal fetal DNA test (MaterniT21) which was new to the market. We decided to take the test. One week later a genetic counselor called me and told me that the test came back negative for Trisomy 13 (T13) and Trisomy 18 (T18) but it was positive for Trisomy 21 (T21).
What were some of the emotions you had when you got the news?
I felt as though the wind had been knocked out of me. I was at a loss for words. If I’m being completely honest, I was filled with worry, sadness and grief. I cried for a while and tried in vain to compose myself before I called my husband and told him. I walked around in an absent state for about two weeks and was filled with worry. With the help of my husband the fog dissipated. He was certain everything would be fine. We chose to educate ourselves and insure the best possible health care for Natalie due to the medical complications associated with Down syndrome. We decided to tell our immediate family members (our parents and our siblings) of Natalie’s diagnosis but we decided we weren’t going to tell anyone else. We wanted the remainder of my pregnancy and Natalie’s birth to be a joyous celebration. Although we are trying to change society’s perception of individuals with disabilities the news of a Down syndrome diagnosis is often followed by “I’m sorry” or “I have bad news.” We weren’t sorry. We were excited to meet our little girl. She was amazing news to our family. So we decided to wait until after her birth to share all the details about Natalie. Her birth weight, height, eye color, time of arrival, her name and one small part of her…Down syndrome. Because to us it is just that…a small part of her. It does not define her.
If I could go back to the days and weeks after first hearing the diagnosis of Down syndrome, I would tell myself…
It is not going to be okay…it is going to BETTER than ok. This little girl is going to enhance your life in ways you’ve never imagined. She is going to bring out the best in your family. She is going to change the way you see the world. She is going to change the way you see the world. You are going to celebrate the small thing in life. The things you should have been celebrating all along. You are going to meet many amazing people that you wouldn’t have met if it wasn’t for her. There will be difficult roads ahead but you are strong, much stronger than you know. The good times far outweigh the bad. You wouldn’t change her if you could.
Click below to read all the stories from Down Syndrome Awareness Month!
