Our First 2 children
Diagnosis: Spinal Dysplsia
By JJ and Alexandria's Mom
My husband and I found out that we were pregnant in April of 2010. We were so excited, we had our first ultrasound when I was 12 weeks
pregnant with our son. Everything seemed normal, no reason to think anything was wrong. We went in for our 20 week ultrasound to find out
the sex of our baby. A boy, Javier Jr.
As soon as the ultrasound started I knew something was wrong, he was not moving and the ultrasound tech didn't say much. After 20 minutes
she told us that there was something wrong with our son, that she needed a doctor to come in and look at the him. That was when we knew that
he wasn't going to make it. The doctor didn't say much either, he moved us from the ultrasound room into the Genetic Counselor's room. She
explained to us that our son had a disease called Spinal Dysplsia – it's what causes extreme dwarfism. That his legs, arms, and chest were
all the size of a 15 week fetus even though I was actually 26 weeks pregnant.
Since his chest was so small and his heart was normal his lungs had no room to develop. That there was slight change of his lungs
developing but he would be severely retarded and he would have no use of his arms or legs. He would not live longer then 2 years. My
husband and I were completely crushed. My heart broke and we had to make the hardest choice in the world... to end the pregnancy.
We found out August 5th and he was born August 13th. A Friday. I held my beautiful baby boy for 30 minutes after he was born. Crying. I
choose not to see his body, I didn't want to see how bad it was. He had a full head of hair and my green eyes. He fit from my elbow to just
above my wrist. My husband choose not to see him, but he did hold him. I have never seen him cry. He cried uncontrollably. We were
approached by a group in California doing research for Spinal Dysplasia. We chose to donate our son's body so that the next family that had
to deal with this could have the answers we didn't get.
Three months after we lost our son, we got unexpectedly pregnant with our second child, a little girl, Alexandria Karilyn. We went to
the doctor's every 2 weeks for an ultrasound and we did all the tests we could. We found out when I was 13 weeks pregnant that she had a
heart defect, and it was far to soon to tell what it was and if she would survive. I remember that night going home and sitting in the
nursery and crying, begging God to heal her or take her, that neither one of us could make the choice we did with JJ. We went in at 15 weeks
and her heart had slowed down from 145 bpm to 105 bpm but she was very active and responsive.
We went in again when I was 17 weeks to diagnose the heart defect, to find out that her heart had stopped, she was born on March 17th
2011. 7 months and 4 days after her brother. We are going to start trying again in a few months.
