Katie
01-28-2007, 06:12 PM
Posted for Melissa.
Photos available at http://BrysonsStory.tripod.com (http://brysonsstory.tripod.com/)
Bryson was born on September 2nd, 1992, and weighed in at 7 pounds 9 ounces. He was born after a long and problematic pregnancy, and a very difficult labor, but he was worth every second! He was also born with a rare genetic birth defect of the face and skull, called Pfeiffer Syndrome (also known as Acrocephalosyndactyly Type V; and/or Noack Syndrome). He has had a long and difficult road, but we’ve traveled it together.
My pregnancy was not "normal", and delivery was very difficult. I went into preterm labor twice at 7 months, and was put on full bedrest and medication to prevent further labor attempts. I also developed Placenta Previa, a dangerous condition where the placenta partially detaches and moves to a different position - luckily it moved back to a less dangerous position before birth. Our labor was long - around 20 hours total, with 4 hours of pushing, and Bryson was finally delivered by vacuum extraction when it was determined that he was in distress and he was stuck in the birth canal. When Bryson was born, he was blue and limp. The umbilical cord was wrapped around his neck twice, and he had basically strangled during delivery. His first APGAR score was a ‘3’, out of a possible ‘10’. (Most babies have an ‘8’ or ‘9’ for their first score.) His second APGAR score, taken at 5 minutes old, was still only a '7', but that was much better than a '3'. They worked on Bryson for several minutes (it seemed like forever) before they ever got him to take his first breath. He finally cried a gurgley little cry, and they wrapped him in a blanket and brought him to me for just a second - long enough for a picture - then whisked him off to the nursery. When he was first born, no one would tell me a thing, I just knew that babies were supposed to cry, and mine didn’t, and that my husband was very silent. Once we knew he was going to live, and they brought him to me, all I could see was a tiny circle of his face, and I remember thinking that something was wrong with his bottom lip, but that he’d be okay. (I found out later that, while he did have birth defects involving his face, his lip was not part of it - he’d just sucked it into his mouth and was chewing on it!)
After Bryson was born and had been taken off to the nursery for a bath and check-up, I was moved to a regular (non-delivery) room, and waited to see him. It was around 12 hours before I saw him again, and during that time a nurse had told us that he had a very high, cone-shaped, head, but that that was normal for babies born with the vacuum extractor. Later, after he was finally back in my arms, a doctor with a heavy foreign accent came to our room and rattled off a bunch of stuff that we didn’t understand. All we got was “baby”, “syndrome”, and “surgery”. The other words were too heavily accented for us to decipher. We were very upset, especially since after rattling all of that off, he just left the room. The nurse that was on duty at the time came in and told us that there was concern because his head had never gone back to normal proportions like it should have if it was from the vacuum extractor, and that they thought he might have a craniofacial syndrome, they just didn’t know what. She said that a wonderful geneticist would be coming to see us on Friday and could explain it all then. I’ll never forget, though, that she told us that we were going to be okay…and we have been.
We spent the next couple of days getting to know our new son, and loving on him. Bryson seemed very much like an old soul in a young body - his favorite thing was to look at the world with one finger laid beside of his mouth, like he was saying, "Hmmmm....", as he tried to figure out who and what we all were. It was quite cute... On Friday, Dr. Tal Thomas came to our room loaded down with computers & camera equipment. He had an accent, too, but he is Welsh and was a lot easier to listen to and understand. He made some measurements, looked Bryson over from head to toe, and asked lots of questions. Then he showed us some things on the computer. He said that Bryson had one of two things - he either had Kleeblatschadel (pronounced klee-blat-shay-del) or Pfeiffer Syndrome. Both syndromes cause the sutures of the skull to close prematurely, preventing the skull from growing correctly. In Kleeblatschadel, all four sutures are closed, and in Pfeiffer it can be anywhere from one to four, with all four being closed usually being among the worst cases. Bryson had all four sutures completely closed, so he had none of the soft-spots that babies normally have. They both also feature facial deformities. The main difference (other than rarity) is that in Pfeiffer the big toes are usually wider than normal, as are the thumbs. Bryson’s big toes were definitely larger, but his thumbs looked normal. Dr. Thomas said that he would watch him over the next few months before knowing for sure which he had. In the end it was decided that Bryson has Pfeiffer Syndrome, which at the time occurred in 1 out of every 500,000 live births. It has gotten a little more common in recent years (though it's still a rare disorder - just not quite AS rare as it was before), probably because of advances in medical care helping mothers carry to full term babies that might would have been miscarried before. One of the things that I loved about Dr. Thomas was the hope he gave us - he said that he was going to schedule an appointment for Bryson to see “the king of China”, his friend Dr. Argenta, and that everything was going to be okay. He also cared about us as a family, instead of just being clinical. He took pictures of our whole family together (not just medical pictures of Bryson), and would occasionally call just to see how Bryson was doing.
When Bryson was 8 days old, we took him to see Dr. Argenta, a craniofacial surgeon who had recently moved to our local medical center from Michigan. He was, at the time, one of only 12 doctors in the US who had trained under Dr. Tessier, “the master” of craniofacial surgery, in Paris, France. We were so very lucky to have him nearby! He told us that because of the severity of Bryson’s skull (he had all of his cranial sutures closed completely with no room for brain growth - called "cloverleaf skull"), he would need to have surgery right away or he would die or become a vegetable for life. He sent Bryson for CT scans and blood work, and told us to go home and prepare for surgery. I have to say that we felt right from the beginning, and still feel, completely comfortable with Dr. Argenta. He has literally been a life-saver for our son, and a sanity-saver for us. He is a wonderful surgeon as well as a wonderful person.
(continued below)
Photos available at http://BrysonsStory.tripod.com (http://brysonsstory.tripod.com/)
Bryson was born on September 2nd, 1992, and weighed in at 7 pounds 9 ounces. He was born after a long and problematic pregnancy, and a very difficult labor, but he was worth every second! He was also born with a rare genetic birth defect of the face and skull, called Pfeiffer Syndrome (also known as Acrocephalosyndactyly Type V; and/or Noack Syndrome). He has had a long and difficult road, but we’ve traveled it together.
My pregnancy was not "normal", and delivery was very difficult. I went into preterm labor twice at 7 months, and was put on full bedrest and medication to prevent further labor attempts. I also developed Placenta Previa, a dangerous condition where the placenta partially detaches and moves to a different position - luckily it moved back to a less dangerous position before birth. Our labor was long - around 20 hours total, with 4 hours of pushing, and Bryson was finally delivered by vacuum extraction when it was determined that he was in distress and he was stuck in the birth canal. When Bryson was born, he was blue and limp. The umbilical cord was wrapped around his neck twice, and he had basically strangled during delivery. His first APGAR score was a ‘3’, out of a possible ‘10’. (Most babies have an ‘8’ or ‘9’ for their first score.) His second APGAR score, taken at 5 minutes old, was still only a '7', but that was much better than a '3'. They worked on Bryson for several minutes (it seemed like forever) before they ever got him to take his first breath. He finally cried a gurgley little cry, and they wrapped him in a blanket and brought him to me for just a second - long enough for a picture - then whisked him off to the nursery. When he was first born, no one would tell me a thing, I just knew that babies were supposed to cry, and mine didn’t, and that my husband was very silent. Once we knew he was going to live, and they brought him to me, all I could see was a tiny circle of his face, and I remember thinking that something was wrong with his bottom lip, but that he’d be okay. (I found out later that, while he did have birth defects involving his face, his lip was not part of it - he’d just sucked it into his mouth and was chewing on it!)
After Bryson was born and had been taken off to the nursery for a bath and check-up, I was moved to a regular (non-delivery) room, and waited to see him. It was around 12 hours before I saw him again, and during that time a nurse had told us that he had a very high, cone-shaped, head, but that that was normal for babies born with the vacuum extractor. Later, after he was finally back in my arms, a doctor with a heavy foreign accent came to our room and rattled off a bunch of stuff that we didn’t understand. All we got was “baby”, “syndrome”, and “surgery”. The other words were too heavily accented for us to decipher. We were very upset, especially since after rattling all of that off, he just left the room. The nurse that was on duty at the time came in and told us that there was concern because his head had never gone back to normal proportions like it should have if it was from the vacuum extractor, and that they thought he might have a craniofacial syndrome, they just didn’t know what. She said that a wonderful geneticist would be coming to see us on Friday and could explain it all then. I’ll never forget, though, that she told us that we were going to be okay…and we have been.
We spent the next couple of days getting to know our new son, and loving on him. Bryson seemed very much like an old soul in a young body - his favorite thing was to look at the world with one finger laid beside of his mouth, like he was saying, "Hmmmm....", as he tried to figure out who and what we all were. It was quite cute... On Friday, Dr. Tal Thomas came to our room loaded down with computers & camera equipment. He had an accent, too, but he is Welsh and was a lot easier to listen to and understand. He made some measurements, looked Bryson over from head to toe, and asked lots of questions. Then he showed us some things on the computer. He said that Bryson had one of two things - he either had Kleeblatschadel (pronounced klee-blat-shay-del) or Pfeiffer Syndrome. Both syndromes cause the sutures of the skull to close prematurely, preventing the skull from growing correctly. In Kleeblatschadel, all four sutures are closed, and in Pfeiffer it can be anywhere from one to four, with all four being closed usually being among the worst cases. Bryson had all four sutures completely closed, so he had none of the soft-spots that babies normally have. They both also feature facial deformities. The main difference (other than rarity) is that in Pfeiffer the big toes are usually wider than normal, as are the thumbs. Bryson’s big toes were definitely larger, but his thumbs looked normal. Dr. Thomas said that he would watch him over the next few months before knowing for sure which he had. In the end it was decided that Bryson has Pfeiffer Syndrome, which at the time occurred in 1 out of every 500,000 live births. It has gotten a little more common in recent years (though it's still a rare disorder - just not quite AS rare as it was before), probably because of advances in medical care helping mothers carry to full term babies that might would have been miscarried before. One of the things that I loved about Dr. Thomas was the hope he gave us - he said that he was going to schedule an appointment for Bryson to see “the king of China”, his friend Dr. Argenta, and that everything was going to be okay. He also cared about us as a family, instead of just being clinical. He took pictures of our whole family together (not just medical pictures of Bryson), and would occasionally call just to see how Bryson was doing.
When Bryson was 8 days old, we took him to see Dr. Argenta, a craniofacial surgeon who had recently moved to our local medical center from Michigan. He was, at the time, one of only 12 doctors in the US who had trained under Dr. Tessier, “the master” of craniofacial surgery, in Paris, France. We were so very lucky to have him nearby! He told us that because of the severity of Bryson’s skull (he had all of his cranial sutures closed completely with no room for brain growth - called "cloverleaf skull"), he would need to have surgery right away or he would die or become a vegetable for life. He sent Bryson for CT scans and blood work, and told us to go home and prepare for surgery. I have to say that we felt right from the beginning, and still feel, completely comfortable with Dr. Argenta. He has literally been a life-saver for our son, and a sanity-saver for us. He is a wonderful surgeon as well as a wonderful person.
(continued below)