Miriellys and Alex: Trisomy 13, or Patau Syndrome

Miriellys and Alex have two children. Their youngest, Aerilyn, was diagnosed with Trisomy 13 or Patau syndrome in utero.  They were encouraged to terminate their pregnancy and were given a grim prognosis. They chose not to listen to their doctor and to give Aerilyn a fighting chance.  Now, 3 years later, they wouldn’t change anything. Aerilyn is a joy and a blessing to their lives. Trusting in Your Baby Finding out more than the gender Going into her anatomy scan, Miriellys was convinced her baby was going to be a boy.  She said, “I knew. It’s going to be a boy, it’s going to be a boy.” To her surprise, they found out their baby was a girl!  However, that wasn’t the only shocking news that day. After the sonographer told them the gender, she left the room.  Miriellys and Alex were thrilled they were having a girl. Quickly that feeling left the room as the doctor entered.  Miriellys recalled, “The first thing she asked me was, ‘Do you know what a cleft lip and cleft palate is?’ I started getting very emotional, and I started crying.” Her doctor wanted her to have an amniocentesis done to determine what was the cause of the cleft lip and palate.  Results of amniocentesis bring out range of emotions Alex and Miriellys were told that their daughter had Trisomy 13.  Something that ran in Miriellys family. She said, “It was just really intense to get a diagnosis that I already knew some of the problems of in my own family..we have children in our family who have passed away from that diagnosis, and then we have children who are currently living, so we weren’t sure where we were going with our own.” At first, Alex didn’t really understand what Trisomy 13 entailed. He thought it was just a cleft palate and lip and thought it was more a cosmetic issue that could be fixed.  When he found out, he said, “I felt everything all at one shot. I felt pain, fear, and anger, and I was afraid of what was to come. I was trying to find something to be angry at, like to put blame on..but then I realized that was just a waste of energy.” Understanding how he was feeling, Miriellys said, “I was up more than the sadness; it was kind of like anger.  ‘What did I do?’..you try and find an answer to it where there is no answer. That is just the way it is. There’s no control over life..it takes you into all different types of directions, and you have to just go with the flow and see what it leads up to.” Trisomy 13 This is also known as Patau syndrome.  It is a chromosomal condition that is associated with severe intellectual disability and physical abnormalities.  Most people who have Trisomy 13 have heart defects, brain or spinal cord abnormalities, small poorly developed eyes, extra fingers or toes, cleft palate, cleft lip and weak muscle tone. Most infants with Trisomy 14 die within their first days or weeks of life.  Only five to 10 percent live past their first year.   Painting a grim prognosis Miriellys and Alex were met with a lot of resistance.  Miriellys said, “I remember in the beginning, it seemed like, ‘Well, this is your diagnosis and your child’s quality of life is not going to be good.  Her life expectancy is not going to be good'. So you have to kind of make a decision.” Miriellys felt conflicted.  They would have an ultrasound where they were told their baby’s heartbeat was strong, and then another doctor would talk to them about aborting that baby.  “No one should be put up against a wall to have to make a decision over somebody else’s life. I think that’s when I hit rock bottom, when we were faced with what we were going to do.” said Miriellys. Adjusting to a new normal After their first child was born, Alex said, “After Elias, everything was so easy, and being a dad was pretty easy.”  He learned that being a dad to Aerilyn was going to be an adjustment. He said,