Laughlin
Deletion
I am a mom of 2 beautiful children and this is our story. My oldest child is a boy and I was 35 when he was born. The pregnancy was uneventful, and a healthy baby boy was born. He is now three.
When my son was 10 months old, my husband and I tried once again to conceive, and did. Since I was now almost 37, I opted to have an alpha-fetoprotein blood test done. It came back positive. We were horrified. Many people, including the doctor's office, told me the percentage for positive results is high and everything was probably okay. I then opted for an amniocentesis to reassure us that everything would be fine. Well, that's when the roller coaster ride of our life really began!
On a Friday afternoon, I received a call at work asking that my husband and I to come to the doctors office on Monday afternoon to discuss the results with the doctor. Due to the testing that was done, I was expecting to hear the news that our baby had Down Syndrome.
We spent the weekend very upset and discouraged! When we met with the doctor, we never expected what he was about to hit us with - our baby (at this time we now know it's a girl) had part of chromosome 16 missing. We were then being told that this meant that our baby would have facial deformities and probably retarded. We were both, needless to say, totally devastated. We were then told that the Mayo Clinic had concurred with the results. My husband and I had blood samples taken from us to determine where this may have originated. The next day, I had a sonogram performed that determined that there were, at that time, no facial deformities. I then met with a genetic counselor. She tried to gently tell me that this meant that the baby would be retarded, and a high chance that she would be profoundly retarded. I was then told that she probably wouldn't make it to term and if she did, she would probably die shortly after birth due to the brain not being able to tell the body how to function. I was being told that our baby would die! We were crushed. Before my mother died, we had told her that we would name our daughter after her, and now my mother's namesake would not have a chance to hear stories about her grandparents. I couldn't return to work and I sat home all day and cried. I couldn't bring myself to go to work the next day, or the next. I sat home and prayed very hard that our baby would be all right. All of our friends and family prayed too.
Thursday morning at 11:30, I received a call that brought the roller coaster from the bottom of the ride to the top!! It was the doctor from the Buffalo lab that had been doing the workup on this case. She asked me many questions and was amazed at each answer. She asked if I graduated from High School and I replied that I have a Master's Degree in Computer Science. Many other questions were asked and she finally told me that I have the same exact piece of the chromosome missing. Since both of my parents are dead, we could not test them. My brother was tested and his chromosomes are normal. My son was then tested and he also has the same piece of the chromosome missing. This changed everything - now we would probably have a perfectly normal baby girl. Our miracle had happened!!! The doctor even said that this is a miracle - wow - a scientist admitting to a miracle!!! Well, the rest of the pregnancy was fine and we delivered a perfect little girl.
She is now 1 1/2 years old and is being potty trained - her idea! I thank GOD everyday for our beautiful daughter. I think back to what we went through and find myself crying because I am so happy that we didn't terminate the pregnancy. The doctors were going to counsel us to terminate, but something inside said not to. I'm glad that I listened to my "mother's instinct"!