Every day is an adventure for 11-year-old Trayten Stone and his family. This is because the Stone family has learned to live each day to the fullest. For Trayten, however, each of these days is also a challenge as he battles symptoms of a rare genetic disorder.
"They started watching Trayten weekly after my first sonogram," Tammy, Trayten's mom, recalls. "My amniotic fluid was low and he wasn't growing normally. He was very small."
Tammy carried Trayten to 35 weeks. He weighed just four pounds when he was born.
"He was such a tiny baby," she says. "He came home from the hospital on syringe feedings and he didn't start taking a bottle until about 3 or 4 months of age. At five months they put in a gastrostomy button. At 11 months, he finally hit double-digits in weight."
Trayten was clearly a special baby, but it would be several years, frequent doctor appointments and multiple procedures later before he received a diagnosis for his condition. Originally, Trayten was diagnosed with failure to thrive. This diagnosis is made when a child's weight, or rate of weight gain, is significantly below that of children of similar age and gender. Given Trayten's stature, the diagnosis made sense at the time.
"He was kept on a high-protein diet, but didn't eat much by mouth—just through the feeding tube," Tammy says. "If he was sick, his pediatrician, Dr. Fernando Gonzalez, saw him immediately because we never knew what was going to happen next."
Trayten began having seizures when he was a year old, and they increased in frequency after that time. At age 4, he was tested for other disorders. He still was not filling out; his hands, head and feet were tiny, and he was not growing as a whole. His doctors began taking measurements of his extremities more often to pinpoint what was going on. They never gave a concrete diagnosis, but it was believed Trayten had some sort of chromosome or genetic disorder. On top of all this, he spent a lot of time in the hospital during the first six years of his life.
"It was awful to see him having the seizures," Tammy says. "The first time it happened we were in San Antonio, visiting his geneticist. We decided to stay an extra day to take him and his siblings to Sea World. Trayten was feeling fine; he didn't have a fever or any other problems. When we got back to the hotel that night, he just started convulsing. I called the doctor, and we went to the ER. He kept having them back to back, and they put him in the ICU and started running tests. No matter how much medicine they gave him, he kept having seizures. We thought we were going to lose him—he stopped breathing at one point. It was so scary."
The Stone family visited specialists throughout the state and were still unsure of an exact diagnosis for Trayten's condition. Recently, he began seeing a pediatric geneticist from Cook Children's Hospital through their partnership with Shannon and received a new answer to his condition.
Mary Kukolich, MD, FAAP, FACMG, pediatric geneticist at Cook Children's Hospital, travels to San Angelo from Fort Worth once a month as part of Shannon Clinic's partnership with Cook Children's.
"I saw Trayten in the San Angelo clinic," she says. "He came in with significant developmental delays and a history of seizures. Tammy told me he had a chromosome abnormality and gave me the name of the diagnosis. After some research, we discovered this was the wrong name and determined Trayten has Wolf-Hirschhorn syndrome. This syndrome is caused when a small piece is missing from the top of the No. 4 chromosome. It's also referred to as 4P deletion syndrome. The other condition occurs when a piece is missing a bit farther down."
The family was relieved to finally have a diagnosis.
"There were times when we just didn't know how to treat him because we just weren't sure what the disorder was," Tammy says. "It gave us an idea, something in writing, an idea of how to treat what was going on with him."
Interestingly, about 1 in 100 babies is born with some type of chromosome abnormality, but so many variables can happen during development that each one is uncommon. Trayten's abnormality is very rare—approximately 1 in 50,000 babies is born with Wolf-Hirschhorn.
Dr. Kukolich describes chromosomes as a blueprint for the body to develop. Therefore, if a person starts out from the day of conception with the wrong blueprint, it leads to problems with formation and development. Children with chromosome abnormalities have developmental problems in the area of motor, verbal, comprehension and speech.
"The severity of a child's symptoms is dependent upon how big of a piece of the chromosome is missing," Dr. Kukolich says. "The children I follow with Wolf-Hirschhorn have fairly significant delays, the most significant being expressive speech. Some of them can understand fairly well but often have short attention spans, are very active and can have seizure disorders. Children who are missing other pieces of the 4 chromosome can have very serious heart defects and other medical issues. Trayten does not have those issues and he should not develop them later."
Trayten did not walk until the age of 5, and his speech development is very delayed. He has undergone an assortment of procedures, including gastrotomy button placement; fundoplication, or acid reflux surgery; strabismus eye surgery to combat crossed eyes; dental surgery to place metal caps on all this teeth; removal of cysts that formed in the pits of his ears; hypospadias repair; ureteral reimplant due to hydronephrosis on his right kidney; and cauterization of the inside of his nose to stop daily nosebleeds. Most recently, he received a vagus nerve stimulator to help control his seizures.
Despite everything Trayten has endured, he has overcome the odds given to him at birth.
"We were originally told Trayten wouldn't walk or talk," Tammy says. "When he started walking, he was using a walker at school and doing therapeutic horseback riding. His little brother, Eli, was also learning how to walk. I think those things helped motivate him to let go of his walker. And it wasn't long after he started walking that he started using more words."
Dr. Kukolich says individuals with a chromosome syndrome will always need long-term intervention and assistance. Trayten will never be able to be totally independent and will always need caregivers throughout his life, but his general health should be stable.
"It's been different with Trayten, considering we have two other children who do not have a disorder," Tammy says. "There are some things he is not allowed to do, like swimming. He can't be in the water as long as the other kids because his body temperature doesn't regulate. He gets cold and turns purple. His sleep habits are different. He has to take medicine to go to sleep, or else he doesn't sleep. I wake up every morning at 4 a.m. to him screaming. I know what it is, but I still jump up and run to him. We try to treat him as normal as possible. We try to keep him from thinking he's different. I don't do anything with him that I wouldn't do with his siblings."
Dr. Kukolich praises the parents of children with chromosome disorders. She says siblings like Kianna and Eli are a big help as well because they can help teach and stimulate the child with the disorder.
"Parenting a child with a chromosome disorder is very different than taking care of a normal child," she says. "The parents spend of lot of time making sure their child receives the care they need. The parents are very special as well. The kids can surprise us with how much they can do and understand. They have their specialties that we have to bring out so they can show us what they can do. I tell families I'm not going to predict what their child will be able to do. They will show us."
Trayten attends school at TLCA and does very well. His speech therapy helps him to continue to learn how to communicate. He still takes four medications and visits the doctor regularly. The vagus nerve stimulator goes off regularly to help control his seizures.
Trayten's doctors do not have a definite answer about his outlook.
"No one can really say how long he will live or how long he will be here," Tammy says. "One day he will be fine, and the next he could be sick; that's how fast it happens. But Children's Miracle Network has brought a lot of attention to Trayten and his syndrome, and that has helped. I don't know what we would do without him. He's brought a lot of laughter and love to our family and others around us."