Family with a mission
LANCASTER – Like many toddlers, Joshua Byers has lots of energy and curiosity. But unlike most toddlers, the Lancaster boy has speech difficulties, hearing loss, immune deficiency and growth problems – the result of a genetic disorder called DiGeorge syndrome that can cause any of about 180 abnormalities. Hard to diagnose because of the varied forms it takes, the disorder is surprisingly common: It occurs once in 2,000 births. “We want to let the community know about it,” said Joshua’s mother, Nichole Byers. “It’s not as rare as people think it is.” AD Quality Auto 360p 720p 1080p Top articles1/5READ MORERose Parade grand marshal Rita Moreno talks New Year’s Day outfit and ‘West Side Story’ remake About 90 percent of the cases of DiGeorge syndrome, including Joshua’s, are associated with a chromosome abnormality called 22q11 deletion. Chromosomes are divided into two parts called arms. The top part is “p” arm and the bottom is the “q” arm. People with a 22q deletion have a part of the “q” arm missing. What disorders someone will get can vary widely as can the degree of severity. Some problems, such as learning difficulties and psychological problems, might not crop up until years later. “We don’t know what it will cause,” said Joshua’s dad, Erick Byers. “We don’t know what you’re going to have.” Joshua and his twin brother, Jared, were born in February 2004 about eight weeks early. At birth, Jared weighed about five pounds and Joshua weighed about three pounds. “When I saw them in the incubator I thought something was wrong,” Nichole Byers said. “I cried about it. He just looked different.” About three weeks later, the boys were able to come home. Shortly after, Joshua started having medical problems. “He got sick all the time,” Nichole Byers said. “We were constantly going to the ER four or five times a week.” The cause of the ailments was a mystery. The Byers said that it was when Dr. Fariborz Satey, chief of pediatrics for High Desert Medical Group, took an interest in Joshua’s case that steps were taken to zero in on the cause. Joshua was sent to numerous specialists at Loma Linda and UCLA medical centers. A specialist at Loma Linda asked the Byers if Joshua had been tested for DiGeorge syndrome. Late that night, Nichole Byers looked up the disorder on the Internet. “I just started bawling when I saw the symptoms,” Nichole Byers said. On the day Joshua turned 6 months old, test results confirmed he had DiGeorge syndrome. “My first thought was it can’t be true,” Erick Byers said. “But it explains a lot. It put a lot of the pieces together.” One blessing for them, the Byers said, was that Joshua’s heart is in good shape. Heart problems are the leading cause of death for those with the genetic disorder, with most deaths occurring by 6 months of age. To treat Joshua’s compromised immune system, he was given repeated intravenous gamma globulin treatments. The treatment appears to be working and he doesn’t seem to be getting sick as much as he had early on, the Byers said. Joshua receives a growth hormone shot every day. He will likely require the shots through age 18. Joshua has dental problems that will need to be addressed later. He also likely has a cleft palate, but the Byers won’t know for sure until he is old enough to undergo testing, which requires Joshua to speak on command. Besides the twins, the Byers have two other children, Erick and Carrisa. For them, Joshua’s condition is just a normal part of life. “I’m very proud of them,” Nichole Byers said. “They have to share a lot of themselves with what’s going on.” When the Byers learned of Joshua’s condition, they looked around for support groups and were surprised to find there was nothing available. The only groups were those on the Internet. One of the Web sites they found was 22q.org, set up by the International 22q11.2 Deletion Syndrome Foundation. Mark Abissi, chairman and co-founder of the foundation, set up the organization after his own daughter was diagnosed with the genetic disorder at age 3. Education is one of the main goals of the organization. The more parents know about the disorder, the better off they are in making sure their child gets the proper care and a chance at a better quality of life. “First they are devastated,” Abissi said of parents learning their child has the disorder. “Then they want to educate themselves.” The organization also wants to spread the word in the medical community. “One of our goals is to let every physician know about it. There are kids who are misdiagnosed.” The Byers, too, are focused on educating themselves and others. They want to connect with other parents who have children either with DiGeorge or those facing chronic health issues. They have set up an e-mail address for those wanting to reach out, [email protected] “We know there are others out there,” Nichole Byers said. “I’m wondering how they are coping with it.” Jim Skeen, (661) 267-5743 [email protected] 160Want local news?Sign up for the Localist and stay informed Something went wrong. Please try again.subscribeCongratulations! You’re all set!