Mom says growth hormone is big asset to her little boy

By Greg Miller

STAR STAFF
gmiller@starhq.com

  
Kristi Street says growth hormone is a big asset to Jacob, her little boy who was born with Chromosome 18P-.
   "He has been on growth hormone for two years now," Kristi said. "Before he started on growth hormone, he was 2 1/2 years old, wearing clothes for a 3-6 month old. Growth hormone not only helps in growth but also improves muscle mass and tone, increases myelin production, which improves conductivity and possibly IQ and also healing abilities. Jacob's muscle tone has improved so much."
   A study has shown that youngsters with Chromosome 18 abnormalities receiving growth hormone therapy had a "significant increase" in their IQ levels, Kristi said.
   "We go to the Children's Hospital every six months in Cincinnati, and they do growth charts as proof as to how much he is growing. The last time we went, he had grown nine centimeters in a year. Seven centimeters is an average of what each child grows each year around his age."
   Giving Jacob his growth hormone shot each night "has been one our hardest feats, but we see great improvement," Kristi said. "It has been a wonder drug for Jacob. He has grown, muscle tone has improved greatly, and he communicates better and is sick much less often."
   Jacob is about 33 1/2 inches tall. He only weighs 27 pounds. He wears size 2 clothes and size 8 shoes.
   Following a normal pregnancy, Jacob was born at the Specialty Hospital in Johnson City. Within 24 hours, Jacob was transported to the intensive care unit of Holston Valley Medical Center in Kingsport. During the course of his five-day stay there, he was examined by a geneticist.
   "They tested him because he had real poor muscle tone," Kristi said. "His right leg was flipped up; His shin was against the thigh. His toes were pointed up toward his face. That was because of the poor muscle tone. They call it hypotonia, which means poor muscle tone."
   The geneticist tested Kristi and her husband, Joe, "to see if there was anything wrong with us that we could have passed on to him. The test came back that there wasn't. The diagnosis was that he didn't have Down's Syndrome, 'but we're not sure what he has.' Within two weeks, they contacted us and said that he had Chromosome 18 P-.
   "Chromosome 18 P- is a chromosome abnormality. Every cell in the human body has a nucleus containing 23 pairs of chromosomes. Each chromosome gene has a short arm and a long arm. In a chromosome abnormality, there may be a loss, duplication or rearrangement of chromosome material. It ranks second to Down's Syndrome which affects Chromosome #21. In Chromosome 18 P- Syndrome, the short arm of chromosome No. 18 is missing, or translocated with some missing.
   "For Jacob, a piece of this is broken off and is gone. That means that there are genes missing, and when genes are missing, there are things in his body that are not going to perform right because some of the information is gone. It tends to be that the more that is missing, the more problems that you have. Right now, we're in the process of getting blood work together to send to the research center...to see where his is broken off."
   Jacob was enrolled in the Tennessee Early Intervention Program shortly after birth. "With great skills of physical therapist Susan West, he achieved great dexterity in his little hands and could finally sit alone, stand and walk," Kristi said.
   Jacob, who will turn five years old in July, is developmentally delayed "to some degree," Kristi said. "They think he is held back mostly because of his speech problems. Developmentally, he's probably behind two years in certain categories. In some categories, he's right on target. He does pretty good in fine motor skills and social skills. He's more or less behind in his language skills, the speech part of it.
   "His development is averaging at between a 36 and 48 months child right now, and 48 months is a four year old. Some things, like language, he's down to 20 months, so he's less than a two year old."
   Overall, Kristi estimates that Jacob is at a 3 to 3 1/2 year-old level. "It's a wait-and-see kind of thing as far as how he's going to learn in school," she said. "He's really good at lots of things, computers and things like that. And he can memorize things real well, too. He can watch something one time, like a video, and he knows everything that's going to be said."
   Jacob, Kristi said, "will have to write his own history." Some youngsters with Chromosome 18P- go on to graduate from college, according to Kristi, while others need tutoring in school. Some are "wheelchair bound, bed bound from the time they are born."
   Most children born with the syndrome "usually don't walk until later age," Kristi said. "He started walking at 16 months, which is just a few months behind a normal child."
   Some of the children face multiple heart operations. "Some of them can have a lot of medical problems, even autism." Kristi said. One of every 180 babies is born with a Chromosome abnormality, Kristi said. "We do not know the cause or prevention. It could happen to any child.
   "They have multiple handicaps, short stature, poor muscle tone, learning difficulties, hearing impairments, skin disorders, allergies and speech and developmental delays. But they also have determined parents who have united to form the Chromosome 18 Registry and Research Society. Their goal is to raise funds for research to get answers and help their child."
   The biggest help for the Street family, Kristi said, has come from the Chromosome 18 Registry & Research Society. "We attend a conference once a year," Kristi said. "We get to sit down with the parents and with members of the research team. The research team is at the University of Texas Health Science Center, in San Antonio Texas."
   Jacob, who loves school, "is strong-willed, determined, very energetic," Kristi said. "He does not know what naptime means. He loves to play his computer, watch videos, play games."
   Because of low muscle one, Kristi says, Jacob "had difficulty chewing his food and had speech delay. Jacob attends Hampton Elementary School Preschool, where Tracey Cannon is Jacob's teacher and Lori Shields is his speech teacher."
   Jacob's favorite foods include macaroni-and-cheese, milkshakes and pimento cheese sandwiches.
   He is the grandson of John and Rita Jenkins and Richard and Lula Belle Street. Jacob's Grandma Lula Belle calls him a "miracle child," and Jacob calls her "Meme." Jacob loves to stay with his papaws and play with his cousins.
   Joe and Kristi feel blessed and are thankful and grateful to God and for all the prayers of Little Doe Free Will Baptist Church. "Jacob is progressing each day for a brighter future," Kristi said. "He has surpassed the verdict that we were given at his birth, and we believe the Great Physician has come to our aid. Our prayer is that he will have a chance and have a great life."
   Jacob, who has twin 10-month-old brothers, Landen and Weston, enjoys watching Joe, the new host of the "Blue's Clues" television program.
   Contributions may sent in honor of Jacob to The Chromosome 18 Registry & Research Society, 6302 Fox Head, San Antonio, TX 78247.