Birth

It was February of 1996 when HPEmom and I first learned that there was something wrong with the pregnancy. We had had ultrasound exams earlier in the pregnancy and all seemed to be going well. After a visit to the OB, we were sent for another ultrasound because the OB felt she was measuring small for the date. This ultrasound showed the baby's head to be smaller than it should be and there was a dark mass in the back portion of the brain. Several ultrasound exams later we had few answers. There appeared to be a fluid filled cyst in the back of the brain. Some docs disagreed on the exact position of the cyst, and we were given several preliminary diagnoses: from Dandy Walker formation to porencephaly. We carried on for two more months, digesting as much information as we could. At 39 weeks, HPEmom went for her last weekly checkup and was told that most of her amniotic fluid was gone (her water had never broken - so this meant distress on the baby). C was born by C-section that evening.

C was a perfect little baby, just under 6 ponds with perfect facial features and a slightly small head. The early days in the hospital and then at home were as routine as it can be for first-time parents. About 2 weeks after she was born, C had an MRI at Children's Hospital in Washington, DC. The MRI finally gave us some answers. C had a brain malformation called Holoprosencephaly. Basically a failure of the brain to fully separate into left and right hemispheres. The initial literature we read was depressing, saying that few children born with HPE lived beyond the first month. But we also learned that most literature pertained to the most severe forms of HPE, and C did not appear to fall into that group. We took her home with instructions to let her tell us what kinds of child she was going to be, rather than relying on the medical literature.

In those first months we learned that among the affected areas of C's brain were midline structures that control hormone production and regulation. She was found to have a cortisol deficiency and diabetes insipidus, and was put on hormone replacement, probably for life. To this day (Age 12) these remain her only daily medications. Other than this, C was a rather normal baby. We took her infancy day by day, not knowing what if any developmental delays she would eventually show.