In 1991, I was 23 and working in the Genetics Department
at Children’s Hospital of Philadelphia. I was married, had a
toddler, and was happily pregnant with my second child.
What a gift it was that I was working in that department.
Because of the knowledge and connections made there, I was
in a much better state of mind to deal with what lay ahead.
At about 20 weeks gestation, an ultrasound picked up
abnormalities in the infant I was carrying. Sadly, major
brain and heart defects were noted.
The obstetrician and the head of the Genetics Department
were direct with me about having amniocentesis,
suggesting to me that if I knew what the chromosomal
abnormality was, I would lean more toward abortion. They
didn’t know how firmly I stood behind my statement that I
would not add “premature birth to the list of problems my
daughter was already facing” by undergoing an abortion.
However, I did choose to have amniocentesis. There are
many chromosomal abnormalities that can be detected by
amniocentesis—not just Down syndrome. Some of them
are “incompatible with life outside the womb.” That was the
case with my daughter. She had Trisomy 13 which is similar
to Down syndrome (Trisomy 21) in that there is an entire
extra chromosome. However, unlike Down syndrome,
which has an array of associated clinical pictures, people
with Trisomy 13 do not have an expected life span. Many
die even before birth.
With the information I had from the amniocentesis, I was
able to prepare for the birth of my child. I was able to read
up on the problems she might have if she did survive until
and after her birth. And, most importantly, I was able to
meet with a priest who was a university ethicist to discuss
which medical interventions should be considered when
she was born. For example, CPR is a life-saving measure
but in some instances, such as when someone is in the
final stages of dying, CPR may not be chosen as a medical
intervention. In my situation, with my daughter Gabrielle
having a known chromosomal abnormality, I was prepared
in the delivery room, should she not be able to breathe, to
decline intubation, but to ask for resuscitation by means of
breathing into her mouth/nose in infant CPR.
Gabrielle lived for 12 days and died in my arms at home.
Hospice services were a wonderful resource as my
husband and I learned to change her feeding tube and
prepare for her death.
Over the years, my gratitude for being chosen to be
Gabrielle’s mother has changed and grown. I have gained
ever-deepening understanding of the privileged position
I am in for having her as a daughter. When well-meaning
doctors and medical personnel try to influence women to
abort their babies with major medical issues, the parents
may give in to that pressure and miss out on the experience
of getting to know that child. Parents should know that even
babies with chromosomal abnormalities can find a home
through adoption if they don’t feel capable of parenting a
child with special needs. Whether they choose adoption or
take care of the child themselves, there are supports to help
families in their situation. Parents should know about all
of those resources before being put in the difficult position
of considering abortion. With time taken to learn about
resources, perhaps someday in the future they will look
back and feel privileged to be that child’s parent.
Diane Simoni is the proud mother of two grown children
and works as a clinical social worker in private practice.