Genetic Disorders Often the Cause of Birth Defects
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Although mothers often do all they can to maintain a healthy Pregnancy, babies still have birth defects.
Sometimes parents are told that an accident during the Pregnancy may have caused their child’s condition. But looking at the baby’s family history may reveal another source of the problem—genetics.
“The vast majority of people have been told, parents have been told as their children have the problems, that they have them either because it was something that happened during the Pregnancy or delivery or a high fever when they were a child,” said Dr. Marc Williams, director of the IHC Genetics Clinic.
But Williams said that in most of the cases, that is not true.
“Not only did parents not know why their children have these problems, but they are carrying around guilt that something that they did or didn’t do led to the problem.”
From 10 a.m. until noon today, Janet Williams, director of genetic counseling at the Intermountain Health Care Genetics clinic at LDS Hospital, and Marc Williams will take phoned-in questions about understanding genetics and how to research familial health patterns as part of the Deseret Morning News/IHC Health Hotline.
Marc Williams said clinical genetics started with the study of birth defects, chromosome abnormalities and mental retardation, and a lot of the genetic studies have stayed in the pediatric realm.
But LDS Hospital recently opened an Adult Genetics Clinic designed to help adults with developmental problems understand the underlying causes of their conditions.
“These are people who were born 20, 30, 40 years ago, when we didn’t know about causes or problems,” Williams said.
Many people, he added, have never been diagnosed with a condition.
“Conditions that were hardly even described when this person was 5 years old are now described and have tests available for them,” Janet Williams said.
Specific answers and diagnoses, she added, may provide better medical care.
Marc Williams said he was able to help a 42-year-old woman who was referred to him at a genetics clinic in Wisconsin. Her parents had tried for 10 years to control her behavioral spells.
Marc Williams diagnosed the woman as having Angelman syndrome, which is known to be associated with seizures. When given anti- seizure medicine, the woman’s behavior spells went away.
“I met with her parents, who are now in their 70s, and explained to them that their daughter had a genetic problem relating to, in this case, a missing piece of chromosome 15 which causes Angelman syndrome,” Marc Williams said. “This was an accident, it occurred by chance, it didn’t have anything to do with something they had done or didn’t do.”
Marc Williams said he was also able to tell the parents that the disorder would not reoccur in the family. Discovering what is wrong and explaining that to parents is a very powerful experience, he added.
“Both the parents broke down in tears because even after 40 years, they still carried around guilt that something they had done had caused their daughter to be severely mentally retarded,” Williams said.
IHC’s Adult Genetics Clinic is patterned after a Wisconsin clinic that Marc Williams designed. The Utah clinic is part of IHC’s Genetics Institute, which was created a year ago to manage genetic advances, develop new genetic intervention protocols and learn how to apply genetic information to disease prevention and treatment.
Marc Williams said that at the Wisconsin clinic, clinicians were able to establish or change a diagnosis in nearly half of the first 50 patients seen.
But he said the most rewarding part of the clinic was seeing parents’ relief once they understood the genetic causes of their children’s disorders.
He hopes to bring some of that relief to Utah families by preparing LDS Hospital for future genetic developments.
“We’re trying to develop systems within IHC that can support information once it is available,” Marc Williams said. “That includes educating clinicians about genetic risks, teaching them how to use family history information using information systems to store information.”
The IHC Genetics Clinic is open Thursdays from 9 a.m. to 4 p.m.
Janet Williams said that in the next 10 years there will be drastic improvements regarding genetics and multi-factorial diseases.
“There’s no doubt it’s coming, we just don’t know when,” she said.
Source: Deseret News (Salt Lake City)
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