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Mosaic Trisomy 16

 Editorial note: Please be aware that Blake's story is both inspiring and very, very sad.

Blake William was stillborn on January 19, 1999. He was our firstborn and a very celebrated little boy. We had been anticipating his arrival for months. We began reading stories to Blake in very early pregnancy. His nursery was decorated and we had all of the newest "baby equipment", even a wipe warmer so as not to chill his little bottom during diaper changes! I know that Blake felt love from all our family from the time he was first conceived. Brendan (my husband) and I talked frequently about Blake. Brendan looked forward to teaching Blake to throw a baseball, drive a car and even flirt with a girl! I looked forward to those middle of the night feedings, gently rocking in his nursery. I imagined that it would be our special mother son time. But God had different plans for our little man.

My pregnancy had been picture perfect. I felt great and often joked that I felt better pregnant than non pregnant. Blake brought me so much joy from the moment he was conceived. I felt his spirit inside of me and it made me glow. Those nine months were definitely the happiest months of my life. I have a wonderful obstetrician and received top notch prenatal care. We had discussed amniocentesis because of my age (36) but decided to do serial ultrasounds instead because of the risk of miscarriage with amnio. In retrospect I think we all wish I would have had an amnio, even though we wouldn't have done anything differently. All of Blake's organ's developed normally. His only anomalies were a club foot and simian creases in his palms. He was small for gestational age at 4.1#. The only thing that gave us any clue that something might be wrong on ultrasound was shortened femurs. This did not alarm us much because everything else was so normal, no heart defects or anything else that usually goes along with genetic abnormalities. At 37 weeks I had my last ultrasound. We watched my precious little boy suck his thumb, blink his eyes and move his arms and legs and even grimace. I treasure those moments that I watched him not knowing that was the last time I would see Blake alive. At 38 weeks we heard a strong heartbeat and my check was normal, I was starting to dilate and we looked forward to a baby the following week! Both of our families were so excited. In the next week our excitement turned to deep sadness. I went for my 39 week checkup and we could not find a heartbeat and did an ultrasound and saw little Blake's lifeless body. "Why?" My doctor waited with me as Brendan was on his way. I remember saying to Brendan, Blakie died. We held each other and sobbed. Babies are not supposed to die.

Our hearts broke. We called our parents, and found out that our 90 year old Grandma Mary had also died. We immediately knew that she had died to carry Blakie into heaven so he wouldn't have to go alone. What deep pain our families felt. My doctor gave me medication to induce labor and I was to go home and rest. Our families came to our house and grieved with us that evening. I remember walking into the house and hugging my parents and sobbing with them. Over the next several hours each of Brendan's brothers and sisters came in and we all sobbed. My brother who lives in Washington state called. He and his wife just had their first child 3 weeks prior, Blake and Mariah were supposed to grow up together. It was truly the love of God and our families that helped us survive during that time.

I woke up at 2 a.m. with pain. I now know that pain to be labor! Around 6:00 a.m., I took a shower and woke Brendan up and told him to call Dr. Batie and think about heading to the hospital. For some reason we took Brendan's truck to the hospital - I felt every bump! He timed my pains at 2 minutes and tried to convince me it was labor! When we opened the birthing center doors our doctor, my nurse and social worker were waiting for me. It was so nice to see them. I was already dilated to 5. Thank goodness. Labor would be quick. Brendan called our parents and told them to come to the hospital. God was with us. I arrived at the hospital at 7:30 and delivered Blake at 8:50. The hospital staff were wonderful. Our nurse made sure we were able to spend as much time with Blake as we needed. Our social worker was incredible. Our priest had a brief ceremony in the hospital. Both our families were there, we prayed together and sang. It was healing. Each of us held Blake. We took pictures and videotaped him. I'm so glad I was able to hold his little body in my arms. He was so perfect, his nose, his mouth, his little chubby cheeks and his Daddy's black hair.

The next few days were difficult. We had a memorial service for Blake and a funeral for Grandma Mary. We got special permission to bury Blake with Grandma Mary. Brendan and I were able to place Blake in her arms and close the casket. That felt better knowing he wasn't alone. We placed toys, a blanket, pictures and letters we wrote to Blake in the casket. We covered Blake with a fire department shirt of Brendan's. Again we cried surrounded by family and friends. We had a full Catholic funeral for Grandma Mary. The priest who married Brendan and I did the funeral. I sat there between my father and my husband and cried. Babies are not supposed to die, parents die first. The death of a child makes you feel very vulnerable. It messes up the entire order of things.

Weeks later we received the autopsy report. Trisomy 16. All organs normal, small for gestational age. We speculate that Blake had mosaic trisomy 16 since he survived to the 39th week. We were not able to test fetal cells, only placental cells, so we will never know for sure the exact details...details that have become very important to me. I know that Chromosome 16 babies are incredible human beings and are all little fighters with tremendous wills to live. We really aren't sure why Blake survived to the 39th week and not beyond. The cord attached abnormally to the placenta probably due to the large number of trisomic cells and we speculate that the cord developed a kink as Blake grew causing the blood supply to him to be cut off. I know that Blake felt only love in his 39 weeks of life, and that comforts me.

It has now been seven weeks since we lost our son. We are traveling down a road we never imagined we would travel. Some days are better than others but we have clung to each other and are moving forward. We met with a genetic counselor and she was very helpful. Our doctor and genetic counselor tell us that even with my age we have only a 1-2% chance of having another child with a genetic anomaly. I like to think of it as a 98-99% chance of having a healthy, normal child next time. Who can argue those odds??!! We are taking one day at a time but look forward to another pregnancy in the near future. We will always love Blake William. He brought us so much joy. Perhaps my husband summed it up best when he said: "Blake will always be our little boy and we will love him and cherish him forever, he is now our guardian angel". Loving Blake has changed us, we are different people now. We have learned to treasure every moment of life, to love with all of our hearts and to never ever take anything for granted.

Since Blake's death I have thought a lot about heaven and I believe that as God has a plan for earth he also has a plan for heaven and he needed Blake for a special job in heaven. And I know that when I get there Blake will be waiting for me and I will cuddle him, rock him and share that special mother and son time. I look forward to that day!

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