Kyle's Page

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…


More photos and progress report at

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