For Debate: Continuing with pregnancy after a diagnosis of lethal abnormality: experience of five couples and recommendations for managementBMJ 1996; 313 doi: https://doi.org/10.1136/bmj.313.7055.478 (Published 24 August 1996) Cite this as: BMJ 1996;313:478
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There is a wonderful support site for Trisomy 13
Living with Trisomy 13 - Patau Syndrome
"Growing in Love"
On this site we celebrate and embrace each precious
moment. (and sometimes it is just that) --see our
treasured memories page...Gemma- lived just an hour.
But they have hugs and photos to last a lifetime.
This site offers support for families caring for their living
trisomy 13 children. (37 families share their living
children at present), Treasured Memories page,
Support for Prenatal Diagnosis, and Grief Support
This site offers HOPE for this "inappropriate to treat"
Hope you enjoy visiting the site.
Mom to Natalia - Full Trisomy 13 , 5 1/2 yrs.
Humming songs, walking with help and a happy child.
Approx. 1 1/2 yrs cognitive.
Not sure if this is a
Living with Trisomy 13 -
Competing interests: No competing interests
July 17, 1987
It does not seem like almost 17 have passed. Angel was my first
child. During my 4th month of pregnancy, I had a routine ultrasound done.
I remember having the feeling of impending doom even though the tech
assurred us all was well.
I received a phone call the next day while at work from my very
sweet, now retired, ob/gyn saying something very rare was suspected and
through his connections, I was fortunate to receive an immediate
appointment with one of Boston's top high-risk ob/gyn doctors. An in-depth
ultrasound was performed and the word "holoprosencephaly" entered my
vocabulary and has never left.
My immediate decision based on not wanting to bring a child into this
world who would be "incompatible to society" was to terminate the
pregnancy and I had no qualms or religious/moral guilt about it and my
doctor and family were supportive. The decision was not based on
selfishness, rather, it was that it just didn't make sense to me to bring
a child into this world who wouldn't even know she was in it. However,
within a day or two I received a call from my doctor saying that I was one
week past the 'legal termination' of a pregnancy, I believe I was 19 weeks
pregnant and it was April 1987.
The next several weeks were spent in two different worlds. One world
was the practical world of obtaining necessary paperwork to confirm that
carrying my daughter to full term would be psychological debillitating to
my life, more testing, and genetic counseling (which I still don't
understand why the word 'counseling' is attached to it as it was a series
of impersonal questioning of a very personal nature). Some good news did
result from more indepth testing, as it was determined that Angel's
holoprosencephaly was not a result of any chromosone abnormality and that
I would be able to have more children.
The other world was the world of hope and determination. I educated
myself. Having been employed in a law firm at that time and always having
had a keen sense of research, I had access to many libraries and found
material that I otherwise would not have without this access. I looked and
looked for any little hint of how this may have happened and I came up
with one or theories of my own; but it seemed everyone was hell-bent on
telling me one thing only -- 'rare recessive genes on both my part and my
former spouse that happened to be present at the same time when Angel was
conceived'. And I do believe that; but here I am 16 years later and still
thinking about what I also saw as being contributing factors.
Also in my world of hope of determination, I prayed for a miracle, I
thought only positive thoughts, I held on for dear life to the 1% figure
my doctor gave me when I asked if this could all be just a mistake, I
attending healing services having people pray over me in a church that was
spiritualist (in the life beyond sense or what many people would deem
occult - which in this case seems a cruelly negative term based on the
hearts of these people) and it was also in direct conflict with my own
Catholic faith. I also prepared for breastfeeding, even though I was told
Angel would probably not have a sucking reflex. I looked into donating her
organs to others but was told that holoprosencephaly was such a
significant anamoly, that other organ damage would be present making them
not viable for donation. I suffered through many well-intentioned co-
worker and stranger smiling inquiries of 'is this your first
pregnancy?'and 'do you know what you're having?' and not wanting to make
these people feel bad and not wanting to have to explain the whole
nightmare (which was known only to family, close friends and those I
directly worked with), I felt what it must fee like to be a clown -- big
happy smile on the outside with a sense of profound sadness.
As it turned out, I was 'granted permission' to deliver Angel at 34
weeks gestation. I met with the NICU staff; and the very special
person/pediatrician who was assigned to the birth assured me that he would
honor my request of no artificial life-support but also pointed out to me
that although he and my ob/gyn would do his best to know ahead of time who
the other assisting medical personnel would be, there was always a slight
chance that a 'right-to-lifer' may be on board and his hands would be tied
if that person suggested life support.
The day came for my appointment to deliver 'my daughter'. I was set
up with intravenous bags of Pitosin to inflict contractions. I had not a
one, despite a second dose. At that point, I was determined not to leave
that hospital without delivering this baby. I listened to the options; I
chose to have my water broken but was warned there was a slim chance of
nothing happening and if that was the case I was opening myself up to the
risk of infection. Water broke - nothing happened. I was only 2 cm
dilated. I believe my doctor saw something deep inside me; he shared a
story with me about a sister who had died of cancer that he did not
commonly share and while I don't remember any of the details of his story,
I remember that it somehow related to a special kind of empathy that he
had developed for me and his decision to tell me about an experimental
procedure involving 'seaweed sticks'. After insertion, these seaweed
sticks would work to dilate my cervix and bring on contractions and he was
willing to get the necessary permission. I agreed to the procedure, which
was excrutiatingly painful. I was admitted overnight to the hospital
because it was anticipated that after this procedure, contractions would
come on very strong. I don't have any memory of going to a hospital room,
but I do remember being ice cold and shivering badly and my teeth
chattering non-stop. I also have a hazy memory of not wanting a certain
type of medication - and I think it was Codeine - because I had
experienced a bad reaction from it once; but whatever the medication was,
it was noted on my chart not to administer it to me. To this day, I
believe I was at the hands of an intentionally cruel nurse (THE ONLY
INSENSITIVE PERSON I ENCOUNTERED ON THE STAFF OF THIS IMMENSE HOSPITAL.)
who ignored me and responded to my cries of 'I'm so cold and can't stop
shaking' with 'theres nothing I can do about it, and saying something
about not being able to get another blanket for me, and basically gave me
the feeling of "you made your own bed, now lie in it". It was,admist all
the other emotions I was experiencing, a very scary night for me.
Morning arrived and although my cervix was fully dilated, I had no
contractions whatsoever. The risk of infection who too great and a C-
Section was ordered. I was never one to be gung ho over having natural
childbirth at all costs in the first place. And if I had been, I probably
would not have cared at that point.
I was prepped for surgery and my husband was with me in the delivery
room. I had no intention of seeing this child. I was scared out of my mind
that she would look like a monster; a lot of the reading I did showed
horribly disfigured or half-formed faces of infants and I was emphatic
about 'not looking'. The 'baby girl' was delivered, I heard a brief cry
and had a brief moment of hope. She was whisked off for testing. My next
memory was waking up in recovery with my husband and doctor at my side
asking me if I was sure I didn't want to see the baby. I was in hysterics
and disbelieved even my husband that she wasn't badly malformed. An angel
of a nurse had so much love inside of her to snap a picture of Angel lying
in an incubator, wrapped in the blue and pink striped receiving blanket
and wearing a blue knit cap on her head. One tiny hand was sticking out
from the blanket as if waving hello. (I vaguely remember the nurse telling
me about a personal reason she had for taking the picture and hoped that I
didn't mind.) I did not mind and I remembered thanking her and writing to
her later although I did not know her name. If I saw her today, I would
give her a huge hug for turning the birth of 'a sick baby' into the birth
of my daughter and having living proof that this all really happened.
After seeing Angel's picture I hesitantly agreed to meet her. She was
baptized by the hospital chaplain. The next three hours were spent holding
her as my husband and I passed here back and forth between us. She died in
one of our arms and although my mind does not remember whose arms they
were, my heart tells me they were mine.
Months later, I received upon request, the full autopsy report.
Alobar holoproencephaly was confirmed; but when I got to the section that
noted none of the usual damage to other organs had occured, I cried
thinking that they had been buried into the ground instead of being put to
The experience permantely changed a part of me. Maybe the prayers,
the healing services, my research, the wished for miracle was not
something that could take place in the mode of a magic wand being waved at
my pregnant belly transforming the pregnancy into a normal one, but I was
given the gift to look at the almost perfect face of a beautiful baby. I
learned how critical it is to be sensative to the fact that when I see
other pregnant woman, you just don't know if everything is really okay and
I refrain from asking the usual questions. I learned to share my story and
every once in a while, there is someone that has had a similar journey,
but had never talked about it. For that alone, my heart fills with so much
love and thankfulness for unbeknownst to me, being a special vehicle for
I believe that through this experience I also was shown and
developed the gift (albeit a double-edged sword) of an almost
overwhelming sensativity; and also the importance of practicing empathy.
Most importantly, I learned not to judge or critisize the road taken
by other parents walking this path because no matter how you slice this
delicacy of a cake, the decisions are heart-rendering and although we
don't necesarrily have to believe in each individual's choice; we do all
have to be mindful of our differences -- like anything else in life.
Competing interests: No competing interests