FAMILY WITH A MISSION COPING WITH THEIR SON'S DISORDER, PARENTS SEEK TO EDUCATE COMMUNITY.Byline: Jim Skeen Staff Writer 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 immune deficiency n. See immunodeficiency. and growth problems - the result of a genetic disorder called DiGeorge syndrome DiGeorge Syndrome Definition DiGeorge syndrome (also called 22q11 deletion syndrome, congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormality in chromosome 22 and affects the baby's 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.'' 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 Don't know (DK, DKed) "Don't know the trade." A Street expression used whenever one party lacks knowledge of a trade or receives conflicting instructions from the other party. 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 Loma Linda may refer to:
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 immune system Cells, cell products, organs, and structures of the body involved in the detection and destruction of foreign invaders, such as bacteria, viruses, and cancer cells. Immunity is based on the system's ability to launch a defense against such invaders. , he was given repeated intravenous gamma globulin gamma globulin, a group of globulin proteins in human blood plasma, including most antibodies. These antibody substances are produced as a protective reaction of the body's immune system to the invasion of disease-producing organisms (see immunity). 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 growth hormone or somatotropin (sōmăt'ətrō`pən), glycoprotein hormone released by the anterior pituitary gland that is necessary for normal skeletal growth in humans (see protein). 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 cleft palate, incomplete fusion of bones of the palate. The cleft may be confined to the soft palate at the back of the mouth; it may include the hard palate, or roof of the mouth; or it may extend through the gum and lip, producing a gap in the teeth and a cleft , 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 Twins, The, English name for Gemini, a constellation. 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 What's Going On is a record by American soul singer Marvin Gaye. Released on May 21, 1971 (see 1971 in music), What's Going On reflected the beginning of a new trend in soul music. .'' 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 deletion syndrome Clinical genetics Any of number of hereditary conditions caused by a major loss of chromosome segments; all are rare, often have microcephaly, and an IQ < 50 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 dev·as·tate tr.v. dev·as·tat·ed, dev·as·tat·ing, dev·as·tates 1. To lay waste; destroy. 2. To overwhelm; confound; stun: was devastated by the rude remark. ,'' 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 See Internet address. e-mail address - electronic mail address for those wanting to reach out, nikbyers(at)hotmail.com. ``We know there are others out there,'' Nichole Byers said. ``I'm wondering how they are coping with it.'' Jim Skeen, (661) 267-5743 james.skeen(at)dailynews.com CAPTION(S): photo Photo: (color) Erick and Nichole Byers hold up their 22-month-old sons Jared and Joshua, front left, who has DiGeorge syndrome. Jeff Goldwater/Staff Photographer |
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