Joshua Brown, a 2-year-old from Eagle Mountain, is the only person in the world known to suffer from Chromosome 15 Deletion Q24.1 - a disorder that affects his motor skills and physical development. Brown is missing a small part of his 15th chromosome.

The Browns said they want to increase awareness of Joshua's condition and bring others together who also have family members with genetic mutations.

"We have no idea what to expect from Joshua because we have nothing to compare him to," said Tabitha Brown, Joshua's mother. "There is no one out there that has what he has. I would like to get a support group going for children with autism, or other different genetic disorders. It would give hope to parents out there who are as lost as I am."

Humans have approximately 30,000 genes and Chromosome 15 contains between 700 and 900 of those genes - around 3 percent of the total DNA in human cells. Missing pieces of chromosomes mean that some of the instructions for building the body or mind are missing. Developmental disorders such as autism have been identified with Chromosome 15.

Joshua's doctors diagnosed him with the chromosome syndrome at birth, but never told Joshua's parents about his diagnosis. Joshua's parents didn't question their doctors until a year ago, when they started noticing he was different and not gaining enough weight.

"You trust your pediatrician with your children," Brown said. "Joshua wasn't being completely negative and not eating his food. I kept thinking that maybe I was doing something wrong. Maybe I wasn't working with him enough."

The Browns' frustration escalated as they took Joshua in for more tests, yielding more questions and fewer answers. Finally, their search for treatment led them to Utah.

Joshua weighed 6 pounds, 8 ounces at his birth. His parents noticed that he looked a little different, but not extremely different, Brown said. Doctors in Wyoming, where Joshua was born, found a heart murmur, and Joshua and his parents were life-flighted to Primary Children's Medical Hospital in Salt Lake City by helicopter.

At 5 months, Joshua began experiencing delays in his ability to do things.

"He would not sit up," Brown said. "He would just flop over. He wouldn't even try to hold himself up."

Doctors kept telling his mother that Joshua was fine, and that he wasn't growing because he was not eating enough. Dr. Susan Lewin of Medical Genetics at the University of Utah is currently working with the Browns and intensively researching Joshua's case.

"Dr. Lewin was very helpful and kind," Tabitha said. "They did a testing and told me that he is the only one in the world [that they know of] that has this piece missing on the chromosome."

Currently, Joshua is undergoing physical therapy and learning sign language. According to his family, he has mastered the "terrible twos" and interacts with his siblings, understanding his surroundings and showing his personality in his individual way.

"Josh is so loving and compassionate," Tabitha said. "He definitely has that in his corner."
Copyright Brigham Young University 19 Mar 2007