Our story began in February, 2002 when we found out we were expecting our
second child. In October we would give a sibling to our soon-to-be
two-year-old son, Noah. We were very excited but held back the news until
the end of the first trimester to make sure everything was OK. This
pregnancy seemed very much like my first - queasiness, loss of appetite, and
intense fatigue lasting the first 3 months. Two ultrasounds (one at 22 weeks
and the other at 29 weeks) showed that everything was progressing
wonderfully. The baby was active and we saw him/her (we decided not to find
out the sex ahead of time) yawn and stick their hand in their mouth. I do
remember thinking that this seemed too perfect. We were able to get pregnant
easily both times and the doctors were raving about how “textbook” my
pregnancies were (no high blood pressure, gaining the correct amount of
weight, etc.) I wondered how we could be blessed with another child as
beautiful and perfect as our first. I thought about how my husband and I
were in our late thirties and how the risks of complications are greater
then. I never had a nagging feeling that anything was wrong, but I was more
tense toward the end of this pregnancy (could it have something to do with
having an almost 2-year-old in the house at the same time?!).
At a routine appointment with my OB’s nurse practitioner at 32 weeks, she
noticed that there was a note attached to my second sonogram (done back at
29 weeks) stating that something was questionable about the baby’s
head/skull. It said there should be a follow-up. Apparently no one noticed
this note until now. The N.P. said not to worry. Sometimes the sonogram
technicians see things that aren’t there. She would tell my O.B., who would
probably order a third sonogram to be sure. But her words (“questionable
with the head/skull”) stuck in my mind and I cried all the way home. Was
something wrong with my baby’s brain??
They weren’t able to schedule the third sonogram until almost three weeks
later (at 35 weeks). It was with a physician who specializes in sonograms of
babies with “problems”. Walking into the appointment, with my husband by my
side, I tried to be strong. We wanted to believe that nothing was wrong,
just like my OB’s office said. It was a mistake.
It took the physician a half hour to look at the baby and he didn’t say
anything to us the entire time. I started to feel tense. When he was done he
gave us the news that, at the time, felt like a dream (nightmare): at least
one suture in the skull is prematurely fused, the brain’s ventricles are
enlarged, the head appears bowed in the front, and the eyes are bulging. My
husband then took my hand in his and I burst into tears. What did this mean?
The physician didn’t know. Grasping at straws, I asked if it could just be
some variation of “normal” (I’m beginning to dislike that word)… he said no.
Was it Down’s Syndrome? No. He would have to discuss it with others and call
us at home.
The physician called the next day and said he was sorry to tell me that
the skull fusing was known as “craniosynostosis” and that it was “most
likely” a syndrome known as Apert. He said it sometimes involves fusing of
the fingers and toes, as well as some form of mental retardation. Fighting
back tears, I asked him the sex of the baby (my husband and I decided we
needed to know) – he said it was a boy. I cried and said that I already knew
that (as I did with my first child).
As we dealt with this news over the weekend and how and when to tell our
family, we received a call on Sunday night from the OB. She said that she
happened to be in the hospital the night the physician was researching the
sonogram results, and he discussed his findings with her. They both agreed
it was Apert Syndrome (although the physician admits he did not see for sure
whether the fingers and toes were fused). The purpose of the OB’s call that
Sunday night was that she had additional news to tell us. The baby’s brain
was missing the corpus collosum and this meant that he would definitely be
mentally retarded. The O.B. wanted to prepare us for the worst. She said the
problems with the baby’s skull weren’t as important as the challenges we
would face with the retardation. My husband and I hung up the phone and fell
apart. We started to imagine a baby that wouldn’t even recognize us, one
that would be dependent on other people and apparatuses to function, with a
head and hands/feet that were deformed. How could this be happening to us?!
After researching on the Internet (and finding this incredible site), and
speaking with a Geneticist at Buffalo Children’s Hospital, we felt better
about what we might experience. We did not know for sure whether the hands
and feet were affected, and we did not have proof that missing a corpus
collosum meant retardation. One more sonogram (the fourth) was scheduled at
38 weeks with another specialist. He confirmed that two sutures were fused
and that it would be better to deliver the baby by c-section. He said there
was no proof the baby was missing the corpus collosum, and the hands and
feet were hard to see (the baby was too big at this late date) but he could
not see direct evidence of fusing. One thing we could find comfort in was
that all of the sonograms showed the baby’s organs were functioning
properly. We left that specialist’s office still confused and scared, but by
this time we had already gone through the phases of denial and acceptance:
we would love and care for this baby no matter what.
On October 8, 2002 at 1:47 PM, I gave birth to Kyle - a beautiful baby
boy (by c-section) at Buffalo Children’s Hospital. He weighed 6 lbs, 13 oz
and was 18 ¾” long. I remember lying on the table during the surgery,
anxious to see my baby. I heard him cry and they took him away to check
vitals. Then my husband came over, held him up for me to see, and said “Look
at his hands and feet – they are normal.” And he looked normal. That seems
strange to say… what really is normal? If Kyle’s hands and feet had been
affected, we would still have seen him as beautiful and perfect.
The next important and comforting news was that his breathing was OK. He
was able to breastfeed right away and stay in the regular nursery (where he
soon became the nurses’ favorite!) Preliminary sight and hearing tests were
also OK. We breathed a sigh of relief and knew how lucky we were: we had
found out about his condition ahead of time, we researched it, prepared
ourselves and our family, and received boundless comforting thoughts and
prayers – which were answered.
After visits from numerous specialists giving Kyle the thumbs up (the
geneticist confirmed he has Crouzon Syndrome, with both the sagittal and
left coronal fused sutures being somewhat rare), and detailing what he has
in store for him in the future (follow-up office visits, surgeries, some
unknowns, etc.), mother and son left the hospital after four days.
Life at home has been tiring and hectic with two little boys, but we
thank God every day for these miracles. Noah is adjusting to his baby
brother, and Kyle is thriving. His first surgery is this Friday (November
22, 2002) where they will open up the sagittal suture to make room for his
growing brain. At six months when the bones have hardened more, they plan to
work on the fused left coronal suture and forehead/eye area. We are thankful
to have a wonderful Children’s Hospital so close to home and are comforted
by other family’s experiences there, or at other hospitals. We have found
such support on the Apert listserve (which we joined immediately after being
given the first diagnosis before Kyle’s birth) and by reading everyone’s
stories on Teeter’s Page. Thank you for sharing. We hope that our story will
also be helpful and of comfort to others.
Amy & Len Thornton
Mom holds Kyle at 5 days old
Our bundle of joy is awake…
Trick-or-Treat!
More photos and progress report at
http://kylethornton.com/ |
