How Prenatal Testing Helped my Family by Mona PatelMona Patel writes about how a prenatal diagnosis helped her diverse family (she is from India, her husband from the United States) prepare to welcome their youngest son, who has Down syndrome. Amy Julia Becker
When I was pregnant with my third child over seven years ago we had a triple screen blood test done around week 15 of my pregnancy. The test results showed an elevated probability that we might have a child with a genetic condition. The news left me anxious and uncertain. Our doctor reminded us that the test was not a diagnosis and recommended an amniocentesis if we wanted more definitive information. As we spoke with friends and family it turned out that many people we knew had received a similar result on the triple screen test which turned out to be false upon further testing. My husband Dave and I were aware that the amniocentesis was associated with a risk of miscarriage and we weren't sure what to do.
Dave is Catholic and I am Hindu. More importantly, Dave is a kind, gentle and open person who has a special place in his heart for all babies and children. I have more of a type-A personality. I like to be prepared and organized and I tend to worry – especially about the unknown. Both Dave and I felt that we would keep our baby regardless of what we learned, but after a few days of living with the news of the triple screen results I also felt that I needed to know for sure. If we were going to have a baby with a genetic condition I wanted to learn about it and prepare myself. And if we weren't I also wanted to know so I could relax and enjoy the rest of my pregnancy.
We scheduled the amniocentesis and the results showed that our baby had Down syndrome. I wasn't prepared for my reaction to the test results. I cried for three days straight. I couldn't sleep. I had panic attacks and couldn't breathe. But then the demands of work and caring for our two children took over and within a few days I was able to get through my days without the panic and tears. I still knew very little about Down syndrome and I was scared about what Down syndrome would mean for our baby, his siblings and our family, but I was starting to accept our new reality.
Knowing about the diagnosis gave me time to learn. We spoke with a genetic counselor and explored books and internet resources. We contacted people who had children with Down syndrome and eventually attended a local support group meeting. Attending the meeting was both scary and helpful. Some parents spoke about their difficulties with potty training. Others spoke of the challenging behaviors they were dealing with. Some spoke of their issues with schools. All of this intensified my worry.
But we also met families who invited us into their homes. We met inquisitive and friendly babies with Down syndrome. We met teenagers with Down syndrome being yelled at to get off the computer. We saw siblings with and without Down syndrome playing and fighting with each other. I felt hopeful. Slowly I learned that there was a whole range of medical issues that might occur in a person with Down syndrome; but they might not. I also learned that what we knew about the lives of people with Down syndrome and their potential was changing as people with Down syndrome were offered early intervention, included in schools, raised as active members of their communities and benefitted from medical advances.
We also shared our news with family and friends. My parents were quite upset to hear the news that their grandson would have Down syndrome. Just like me, they knew very little about Down syndrome. Having been born and raised in India they also processed the news from a different cultural perspective. When my parents grew up in India disability wasn't talked about openly. If someone had a family member with a disability it usually elicited comments of pity. When we told my parents that our baby would have Down syndrome they didn't say a word. When Ravi was born my parents arrived at the hospital full of love and excitement. I am not sure what their reaction would have been if the news had been delivered in the hospital.
Looking back on this time I am happy that we received a pre-natal diagnosis of Down syndrome. It was difficult to hear about all the possible challenges we could face without having a baby to hold and love and make all those feelings bearable. It also cast a cloud over my pregnancy. I would see other pregnant women and envy them their ability to be unconditionally happy about the upcoming birth of their baby. I read a news article about the anxiety parents felt upon the graduation of their child with Down syndrome from high school and it made me cry. I read a news article about a couple with Down syndrome that were married and I became anxious when I heard about all the preparation and support provided by the parents of the couple. I had a pit in my stomach when I heard parents of a child with Down syndrome talk about the various struggles they were having with their child.
But having the prenatal diagnosis allowed me to experience the shock of the news without having to care for a newborn. I had time to read and learn about Down syndrome. I started to develop a support network. I had time to decide upon a pediatrician, make a list of medical follow-ups, and find the phone number for early intervention. I had time to share with and prepare family and friends. In retrospect, time was a blessing which allowed us to welcome our son, not with tears and fear, but with happiness and love.
Mona Patel is the mother of three, including her son with Down syndrome.