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Fall 1999 Table of Contents
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Family Finds Answers at CHARGE Conference

By Bobbi Easler, mother of Katy Easler, a deafblind student at Pershing Park Elementary Killeen, Texas

The 4th International CHARGE Syndrome Conference held in Houston, July 23 - 25, 1999, proved to be an eye-opening event. Questions that my husband and I began asking more than a decade ago about our daughter Katy's deformities were answered at that seminar. CHARGE is an acronym, with each letter representing the six malformations noted nearly 20 years ago by researchers who were studying the commonalties of specific abnormalities in their patients.

Those common problems being:

The person does not have to have all six or, as was thought prior to 1981, four of the six common problems for a diagnosis of CHARGE to be made. Rather, a combination of major and minor criteria can indicate the patient has CHARGE. This important point was emphasized during more than one session at the conference, because many health care agencies are still going by the old standards and the syndrome goes undiagnosed. Without a proper diagnosis, certain facts, such as a need to test for growth and sex hormones levels, can go unnoticed and untreated until the youngsters are heading into their teens. A revision of the diagnostic criteria for the syndrome now takes into account that there are several features that are extremely common in CHARGE but very rare in other conditions.

The four major features that cause a red flag are: Coloboma, Choanae Atresia, Ear Anomalies ("characteristic CHARGE ears") and Cranial Nerve Dysfunction (a factor not listed in the initial study of CHARGE). The cranial nerve dysfunction includes: a lack of smell; facial palsy; sensorineural hearing loss or vestibular problems; and swallowing dysfunction. In Katy’s case she does not have choanae atresia, but has the other three hallmarks of the syndrome. She was also born with several other problems that appear on the "minor diagnostic criteria" list for CHARGE, features that may occur, but are not consistent enough to be considered major criteria.

Katy was born in March of 1988. Within the first 18 months of her birth, I suspected she might have CHARGE or something closely related to it, after reading about the syndrome in a book titled, "Handicapping Conditions in Children" by Bill Gillham. However, the genetics department of our area hospital, apparently still using the pre-1981 guidelines in 1988, "poo-pooed" my suggestion, pointing out Katy did not have all, nor even four, of the six abnormalities. Instead, they decided she had Treacher Collins Syndrome. After finding a support group for Treacher Collins, I began corresponding and exchanging photographs with other families. It quickly became apparent, to me and my pen pals, that Katy had been misdiagnosed.

During that same time frame, we decided to get a second opinion on the treatment plan our area hospital had drawn up to correct Katy’s facial deformities. We had heard a lot of good things about the plastic surgery done at the Children’s Hospital in Houston, so we went there for a second opinion. While we were there I quizzed the doctors about Treacher Collins Syndrome. The doctors there confirmed what I and the other "lay people/parents" had suspected - Katy did not have Treacher Collins Syndrome. Unfortunately, we had not scheduled an appointment to see a geneticist during that trip, and the doctors we were consulting with were not able to suggest what syndrome she might have. We went home knowing we had been sent down the wrong path by our area hospital.

With no new leads, we were back to square one. We had planned to seek out another geneticist closer to home for more tests, when Katy faced yet another round of hospital stays for pneumonia and other problems. Getting Katy healthy and keeping her that way was the main focus of our concern. After weathering that crisis, we were in no rush to visit new doctors and have more expensive tests run, knowing that we might walk away with no new information. Without a syndrome to pin Katy's deformities to, we had nothing to guide us on what the future might hold. I resigned myself to being in limbo about my daughter's future. That is, until a little over a year ago when I spoke with Robbie Blaha, who is with Texas Deaf-Blind Outreach in Austin. Robbie had attended a conference that featured information on CHARGE syndrome. After hearing about the various characteristics of these children she was convinced Katy needed a follow-up exam to determine if she had CHARGE.

Wanting to learn more, but doubtful that our area hospital would be of any help, I began researching the Internet for information and tried to remain patient until the next CHARGE conference which, happily, was planned for Houston. On July 24, one of the guest speakers, Dr. John Graham, M.D., Sc.D., the director of Clinical Genetics and Professor of Pediatrics at the UCLA School of Medicine, met with us and diagnosed Katy as having CHARGE Syndrome.

With his diagnosis and a two-inch binder full of information in hand, I am confident I can have Treacher Collins Syndrome removed from Katy's health records and replaced with the proper information. There is still no answer to the nagging question: Why was she born this way? But studies are being done. In fact, Katy and I had blood drawn at the conference for a CHARGE study being done by the Baylor College of Medicine in Houston. They also provided us with a kit to take home so my husband, John, who did not attend the conference, can also supply his blood for the study.

Having been in the dark about Katy's condition means we had to face a lot of uncertainty alone - no support groups or case studies describing what we might expect. During the conference I learned that many of the problems we faced with Katy, like the seemingly endless rounds of sickness, are common for children with CHARGE during their first two to three years of life. Also prevalent is an inability to walk until age 3, and the need for g-buttons and trachs because of throat problems that cause trouble with eating and breathing. I learned that children, like Katy, who survive the first three rocky years, tend to "turn the corner." Their health and many other aspects of their lives improve dramatically. This point is helping to ease our concerns about what might lie ahead health-wise, thus allowing us to focus on her educational needs and growth as a person. The list of "If we had only known" is quite lengthy, but rather than mourn the past we can now look towards the future with a better idea of what to expect and how to be better prepared to help Katy to flourish into a healthy, productive person. My thanks go out to Katy's fantastic case manager, Molly O'Leary and the Texas Department of Assistive and Rehabilitative Services (formerly known as Texas Commision for the Blind) for sponsoring our trip. Thanks also to Robbie Blaha and Texas Deaf-Blind Outreach for alerting us about the conference, supplying us with all the forms and registration fee to attend.

If you have any questions about the CHARGE conference or about Katy I will do my best to answer your queries. My e-mail address is bobbike@vvm.com  (please indicate CHARGE or something similar in the subject line so I don't delete your note as unknown/spam mail). Our address is 301 Myra Lou Ave., Copperas Cove, TX 76522-2028.

Editor's note: You may also wish to contact the CHARGE Syndrome Foundation, Inc., 2004 Parkade Boulevard, Columbia, MO 65202-3121. Phone: (800) 442-7604 or (573) 499-4694. Contact Marion Norbury (Executive Director) at marion@chargesyndrome.org,  or Meg Hefner (Genetic Counselor) at meg@chargesyndrome.org.  The 2001 Conference will be in Indianapolis, Indiana on July 20 - July 22, 2001. For more information please contact Marilyn Ogan (2001 - Conference Chair): marilyn@chargesyndrome.org


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