Peyton's Story

Peyton’s story begins long before she was born when her father, Travis, and I met in high school. We were high school sweethearts but before graduating went our separate ways. I went on to marry another for almost 8 years. He moved out of the state but remained single. Fifteen year passed before I contacted him. A year later I moved to California to be with him. Since both of our families were in Utah as was my job we were on our own without a safety net.

We knew we wanted children and because of our age, decided to get started immediately. We were thrilled to discover I was pregnant within just a few weeks of trying but just days later and only three days before our wedding – I suffered a miscarriage. But our hopes soared quickly when less than a month later we had another positive pregnancy test. We felt certain that it would be a girl. I remember hearing of the show Peyton Place as a child and loved the name. So just days after discovering the pregnancy we had named our baby to be Peyton mere weeks before Peyton Manning won the Super Bowl!

The pregnancy seemed to progress well until about the 25th week when I went into preterm labor. After some rest and fluids the contractions stopped but it was our first hint this pregnancy could be at risk. At about 32 weeks I surprised Travis with a 3D ultrasound. The technician had previously worked in a high risk maternal fetal group and was seeing some things that concerned her. She recommended we have the hospital perform another ultrasound. Within days of that ultrasound I got a call from my obstetrician recommending we seek yet another ultrasound at the high risk maternal fetal group in the area. After two ultrasounds that were concerning we weren’t surprised that after the third ultrasound was completed the geneticist wanted to meet with us. Peyton was showing signs of a syndrome but at the time they didn’t know which it was. She had micrognathia as well as several measurements that were smaller than average. Just weeks out from delivery the geneticist let us know that there was nothing more to be done and we would have to wait until after she was born to learn more.

On my hospital tour I had already discovered that it did not have the highest level NICU and with a potential airway issue I consulted my obstetrician about potentially transferring my case to another hospital but she did not seem concerned. I also recommended a scheduled c section to ensure all the necessary specialists were in place but also due to my mother’s history of barely making it to the hospital for delivery. Again, I was rebuffed so I hunkered down to wait for labor to begin. We had a few weeks to contemplate the news that Peyton may have some medical issues, but without any knowledge of the particular syndrome there was no ability to prepare for what was to come.

I was four days past due when my labor pains started. When I first realized they were contractions they were only 3 minutes apart. When I called my obstetrician she didn’t seem overly concerned since they weren’t very painful and suggested I stay home until they worsened. Within minutes of hanging up the phone with her they intensified and by the time we made it to the hospital about 15 minutes later there was no mistaking that I was in labor. I was only dilated to a one, though so they initially considered sending me home but just a few minutes after that assessment Peyton’s heart rate dropped. The room filled with people and after having me change positions her numbers returned to a healthy level. The scare coupled with my rapidly progressing labor, they decided to go ahead and put me in a room but just moments after getting me there Peyton’s heart rate dropped a second time and they were having a difficult time getting it back up. A quick decision was made to proceed to the operating room for an emergency c-section.

Initially I was focused on getting the epidural and as the painful haze was replaced by numbness I realized she was out but it was not like any baby show I had ever seen. They immediately moved her behind where my husband sat and I caught a glimpse of thick, black hair but no one said a word. I looked at my husband and above the mask saw my fear reflected in his own eyes when I kept asking why she wasn’t crying. He just shook his head because he didn’t have any answers either. Within moments he was hustled out of the operating room and I don’t remember anything else until I woke up in recovery later.

I am not sure how long I was out, but Travis had been taken to a small waiting room. During that time he made some panicked calls to family back in Utah. Eventually, a nurse brought him back to the NICU to see Peyton. Early on we were told that Peyton was in respiratory distress and due to her abnormally small jaw her airway was tiny. After reading her medical records, I later learned that the umbilical cord was wrapped around her neck twice and she had aspirated meconium, further compromising her ability to breathe. In that first hour, they tried twice to intubate her and were not able to so they had an ambulance on the way to pick her up and transport her to UC Davis Medical Center because they had the highest level NICU in the area. Before the transport team took her away, they wheeled her incubator to my room so I had a chance to see her. Travis had a few moments to check on me before he followed her to the hospital. My sister and brother were on a plane within hours of my husband’s call and they helped to keep me entertained while he was monitoring Peyton’s condition. Later that evening he returned to the hospital I was at and for the first and virtually only time, he broke down. I must still have been in shock because as he was crying I felt completely unemotional. I was so distant that my sister expressed concern to her husband on the phone that night. It wasn’t until the next morning when I called the NICU to check on Peyton’s status that it all came crashing down. When the NICU nurse asked me who I was I sobbed as I said, “I’m her mother”.

That first day, Travis had to make a decision to allow a breathing tube and a PICC line. I was released on her third day of life and had one opportunity to see her before we had to make the difficult decision to allow the doctor’s to perform a tracheostomy. I didn’t realize it at the time but I was suffering from a spinal fluid leak. Despite going in for a blood patch on the fourth day of her life, it didn’t work and it took a week before I could stand without agonizing headaches. But during that week, I refused to let it stop me from seeing her and after a 30 minute drive to the hospital each way, I would walk several football fields to get from the parking lot to her bedside with my head throbbing and recovering from the c section. It was my first taste of what it meant to ignore my needs in lieu of hers.

Within the first week of her life, the geneticist at UC Davis informed us that they believed Peyton had Nager Syndrome. It was very rare – at the time there were less than 100 diagnosed cases. There was no genetic test so the diagnosis was made on her clinical symptoms: micrognathia, abnormal palate, overlapping toes, fused bones at the elbow, shortened forearms and her craniofacial differences. We would later learn she had no ear canals and had severe hearing loss in both ears and also had aortic valve disease. Peyton would spend six weeks in the NICU and during that time she would have a feeding tube placed. When she finally came home our house was full of machines and medical supplies. We were so fortunate to have nursing because without any family or friends close we had a lot to learn.



In May of 2010, we moved to Utah to be closer to our families and we are currently living in Sandy. Peyton is now four and attending preschool.

She is still trached and still has a feeding tube. There is probably no chance of either being removed in the next several years. In the last year she was also diagnosed with asthma with her trigger being cold & flu. But despite nine upper respiratory infections over five months last year we avoided any hospitalizations. She is healthy and her airway is stable, in fact she can spend most of the day with a cap over her trach tube. She has had three hand surgeries and two jaw distractions and will have plenty more surgeries in her future.

Peyton is a firecracker with a very engaging, dynamic personality. She is outgoing and social despite her speech difficulties.

With the recent addition of an iPad with a communication app we are hoping she will have the ability to communicate more easily with others. Because there is no data on the likelihood of having another child with the syndrome, we have chosen not to have any additional children, but Peyton is kept company by her two furry brothers – Henry and Chili. She also has two sides of her family that spoil her rotten and embrace everything about her – we are so fortunate in that regard.

A few weeks before her birth, I started a blog and it became a source for family and friends to follow her progress. Years and eight hard bound books later, it is a baby book beyond anything I could have imagined. Not only does it track her medical progress but it gives a peek into her world – the good, the bad and the ugly.

We derive support from many sources – tracheostomy.com, the Nager and Miller Foundation, Hope Kids, and the blogs of other special needs parents and our family and friends. Finding the Kidz website is just one more place to feel acceptance and understanding and we are excited to be a part of it!

By Peyton's mom, Tracy. You can read more about their journey on their blog, Peyton's Place.

Every Child Deserves Unconditional Acceptance

Children's Craniofacial Association has declared September as Craniofacial Acceptance Month.

HE'S MY SON

Yes, I am aware that September is over. But I can honestly say acceptance is something I fight for every day of the year, on behalf of my son. Born at 36 weeks, Austin was diagnosed with Branchiootorenal Syndrome, a rare genetic disorder that affects 1 in 40,000 people. BOR itself is not a craniofacial disorder it is an autosomal dominant genetic disorder that includes malformations of the ear and cysts in the neck, hearing loss, and malformations of the kidney.





As a result of BOR Syndrome, Austin's list of physical challenges also double as medical dictionary tongue twisters: Gastro-esophageal reflux disease, Microtia, Aural Atresia, Hemifacial Microsomia, Macrocephaly, Hypotonia and Tracheotomy, to name a few. These days I rattle them off with ease, I can explain what each one means to ME and how it affects Austin. BOR contributed to Austin's ears not developing, his jaw being so small that his tongue obstructed his airway, and some facial nerve paralysis.

Although Austin’s life would not be possible without a lot of assistive medical technology; he does have a life, a very full life indeed. He is like any typical 23 month old, he enjoys hanging out with his cousins at Disneyland, watches Blue's Clues, plays with blocks & puzzles and reads his favorite books.

While going for doctor visits or having therapists and nurses in his home are common for him, he remains friendly and (mostly) happy to see them. To explain how he lives his life with a Trach, G-tube or Chronic Lung Disease would require a much lengthier story than we have time and space for here, but in all of his struggles Austin has continued surprise us with his utter resilience. You can read the details on his blog.

HE HAS WHAT?

Microtia is an incompletely formed ear. It may be just a small ear, or other variations including having only a bump of tissue at the location where the ear should normally be found. Microtia may occur as an isolated deformity although it typically presents as part of a spectrum of other defects, either minor or major. It occurs more commonly in males and on the right side (unilateral). Approximately 10% may occur on both sides (bilateral) which is Austin’s case.

Aural Atresia is the closing or absence of an ear canal in the middle ear. Microtia and Atresia can occur alone or together. They can also be associated with Hemifacial Microsomia.

Children born with bilateral Microtia/Atresia often require bone-conduction hearing aids within the first few months of life. Austin got his hearing aid at 4.5 months. Although the surgeries to correct this problem used to be started as early as 4 years of age in the past, most surgeons prefer to start the external ear surgeries at about 6 to 7 years of age.

Hemifacial Microsomia is a condition in which the lower half of one side of the face does not grow normally. The most obvious sign of this condition is a partially formed ear or total absence of an ear and partial facial paralysis. The syndrome varies in severity, but always includes the underdevelopment of the ear and the mandible. This is the second most common facial birth defect after clefts.

The jaw abnormality (micrognathia) in children with hemifacial microsomia may range from a small but normally shaped parts of the jaw bone resulting in a mild asymmetry to complete absence of these structures resulting in a more severe jaw deformity. Because of the jaw abnormality these infants may be at risk for breathing and feeding problems and need to be evaluated by a specialist if there are any indications of airway compromise or failure to gain weight. Occasionally a tracheotomy and/or gastrostomy are needed to help with breathing and feeding.

Branchiootorenal (BOR Syndrome): Just like any other syndrome there is not one clear cut case of BOR, it is actually now classified as a spectrum disorder.

The B in BOR refers to the branchial arches, the area of the embryo that develops into the outer and middle ear, the neck and the lower part of the baby's face. There are several types of malformations of the branchial arches in BOR; Austin has auricular pits, which are very small holes about the size of the hole in a pierced ear, just below his ears. Normally these might be found on the neck area.

Oto refers to the ear and in particular the hearing loss that is part of the syndrome. The hearing loss can be sensorineural, conductive or mixed. It can be stable or progressive and the severity can range from mild to profound. Austin has bilateral, severe conductive hearing impairment (70-90dB).

Renal refers to the kidneys which can be abnormal in size, shape and/or structure. They may be smaller than usual or have a malformation that does not interfere with function or cause any symptoms. Austin thankfully does not have any kidney problems at present.

BEYOND THE FACE IS A HEART

Children with craniofacial differences come in many packages, but the one thing all have in common is that there is a living, breathing, feeling person behind those big named syndromes and disorders. These kids are funny, serious, loving, quirky, accepting and enduring. Each should be acknowledged for their own individual talents, as well as, their challenges.

Keep in mind beyond the face is a heart; the person you are staring, gawking or pointing at is someone's much loved child, it may be my son. Consider instead, a smile and a wave.





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There are many wonderful organizations you can consider supporting. They offer affected families medical treatment or support and resources.

Children's Craniofacial Association (CCAKids)
AmeriFace
Little Baby Face Foundation
FACES: The National Craniofacial Association
Foundation for Faces of Children