I was awaiting a second grandchild with no thought that he or she would be anything different than the perfection and delight that the first one had been. The pregnancy had been normal and no ominous signs had been seen on ultrasounds.
Then I got a call the day after her birth that something was amiss with the new baby. There was floppiness and poor sucking. Her face looked unusual. But no one could diagnose the problem, although there were guesses at Prader-Willi and Robinow syndromes. Stephanie had to stay in neonatal intensive care for several days and be fed intravenously. I babysat for her big sister while her parents went back and forth to the hospital. Finally the new baby was sent home without anyone knowing what was wrong. It could take her as long as an hour to take a very small bottle feeding. Local geneticists were unable to come up with a diagnosis.
Finally, at 2½ months, Stephanie was diagnosed by an out-of-town geneticist who happened to be an expert about Schinzel-Giedion Syndrome. Parents and grandparents were devastated to learn that this disease would involve profound retardation, lack of development, and probably death by the age of two. There was crying, hugging, feelings that our lives were over, and that we just couldn’t do this. As a grandmother, I felt the double blow of losing a precious grandchild and of seeing my adult daughter suffer life’s worst. I felt I would have given my own life for Stephanie’s—if only that were the way things work.
Stephanie seemed to get worse at taking her bottles, had failure-to-thrive, and she had a tendency to choke. She went to the emergency room with a seizure, and had to be put on anticonvulsants for life (sometimes three different ones). She began a pattern of suffering urinary tract infections. When she was about five months old, she had a gastrostomy feeding tube surgically placed to enable her to take in more nutrition.
We started to learn the pathways to help from various state agencies. We longed for a “case manager” who would pull together all the help that Stephanie needed, and we felt lonely in it all. We searched the internet for ways to connect with other families struggling with Schinzel-Giedion, and we found that these communications were priceless to us. No one could understand like another parent or grandparent going through the same thing.
When Stephanie was a year old, she had a crisis with a very high fever, was hospitalized for a few days, and it seemed certain we would lose her then. But she survived and was placed on a home hospice program. At one year, she still had no apparent development except for physical growth. As she got closer to two years, she seemed to decline physically—losing weight and needing to be on oxygen all the time. She did seem to be suffering and uncomfortable and had to be on morphine and a tranquilizer just as adult hospice patients often are.
Stephanie died quietly and unexpectedly in the night at the age of 26 months without ever having to be rushed to the hospital or have heroics done to her. We all grieved very much, but we were glad that she no longer had to suffer and is in heaven.
Ever since that time, I have held a great residual sadness, so that I never know when I may see a disabled child in a “kid cart” and start to cry, or see my older granddaughter playing happily with someone the age her poor sister would have been and realize anew what a loss Stephanie’s death was to all of us. I found that I developed a real feeling for young parents of children with the various syndromes.
Graphics copyright © by Pat’s Web Graphics. All rights reserved.
Page copyright © 2003 by Schinzel-Giedion.org. All rights reserved.
Website design by Dan Short.