Diagnosis: Trisomy 13
By Austin's Mamma
Early in November of 2003 we had found out that we were 10 weeks pregnant...WHAT A WONDERFUL SURPRISE. We had an ultrasound done and at that time
everything "looked" to be OK. About 1 month later I started having severe pains and we went to the emergency room at 7 pm in the evening. We did not
return home until 4 am the next morning. While in the ER we had an ultrasound done. The tech found a 2 blood vessel umbilical cord and massive cysts
on his tiny kidneys. At that point they said don't worry too much just set up an appointment with a Perinatologist and schedule another ultrasound.
We decided to do it after Christmas because we had a 2-year-old daughter and we wanted to make her holidays happy. Well the morning of December
26, 2003 rolled around; we got in the car and went to the hospital, which was about an hour away from our home. We sat in the waiting room for about
an hour waiting, since it seemed the family before us had some troubles as well. We finally got in there and we spoke with the genetics counselor;
she explained that as young as we were, it was VERY unlikely that anything serious could be wrong. We talked to her about 30 minutes before we went
in to the ultrasound room.
I was scared but little did I know my world would soon come crashing down. When the tech started she looked at his umbilical cord, which had 2
blood vessels instead of 3, then she looked at his tiny kidneys, we knew there were already problems there, with massive cysts that pretty much
covered the entire kidney. Then she looked at his heart "white spots" they called it; otherwise known as heart defects. She then looked at his spine
and his hands; she didn't say much at all.
Then she went to his tiny beautiful face...distorted I could see that plain as day. Our baby boy had a cleft lip and palate. I was devastated at
that point I LOST IT! All I could do was cry; I knew this baby had no chance at a "normal" life. We went back to the genetics counselor's office and
she explained what she thought it could be and told us what everyone has heard "incompatible with life." She told us, "He would live no longer than
two days." We had some difficult decisions to make.
We had planned the D & E for January 4 2004. So on January 2 we went in to have the first set of Laminara inserted. The next day a huge ice storm
hit. We had to wait 10 long miserable days to get back to the clinic. When we went back we had to start the Laminara process all over again. It was
completely miserable; I had contractions...small ones, they felt like Braxton Hicks. Then that terrifying morning came January 14, 2004. We went to
the clinic at 6 AM, by 7:30 the procedure was over. My baby was gone, we never saw him, we never kissed, and we never hugged him. Sometimes I wonder
We had an autopsy done on his tiny body...his tissue and cells showed the rare chromosomal disorder "Trisomy 13, Robertsonian translocation". I
am sorry my son. We would rather live with the pain of loosing you than have you go through the pain of being stuck to tubes and life support. I
love you our son, someday we will see you again. We know you are now healed and free from pain, but that doesn't take the "missing you" away. We
love you sweet Austin.