One Oklahoma couple found themselves looking for answers when their six-year-old daughter began developing unusual symptoms.
Suzie Washington and her husband turned to their daughter’s pediatrician for help first.
“She told me that she thought everything was going to be okay,” Washington said. “Then two days later, she said she (our daughter) has full-blown cancer and we had to get her to the hospital. So we do that. Then 24 hours, they come back and say it is not cancer.”
Then the second twin began to exhibit some of the same symptoms and the specialists with OU Children’s Physicians decided it was time to call in their colleagues in genetics.
Now, with the help of John Mulvihill, MD, the family’s search for answers may soon end. Mulvihill holds the Children’s Medical Research Institute’s endowed chair in genetics at the University of Oklahoma Health Sciences Center.
He and his team of genetic counselors began by working up a family “pedigree” for the Washingtons. The pedigree is a genetic family tree that tracks illnesses like cancer, heart disease, kidney disease and other ailments through generations.
In Kaylee and Baylee Washington’s case, the team suspects the girls may have a very, rare genetic disorder..
“Because of the implications for the family, we feel we have to test for what we can test for and that is the condition – polyposis,” Mulvihill said.
Polyposis is a disorder in which polyps develop throughout the gastrointestinal tract in the first decade or two of life. Mulvihill said though often non-cancerous, some people with the disease are at increased risk for developing gastrointestinal cancers.
“This often goes away after itself after childhood,” he explained. “But there are some cases where it is complicated by cancer. So that’s what we are trying to help them sort out.”
A blood analysis technique can now identify whether or not the girls carry an abnormal form of a gene that would be a warning sign for cancer.
Interestingly, while researching the Washington family’s health history, Mulvihill says their graduate student in genetic counseling came across other conditions running in the family that also will be addressed.
He said the Washington’s case highlights the important role of genetic counselors in health care. Genetic counseling is a relatively new specialty in health care, a specialty that marries a strong background in science and medicine with the support skills of counseling to help patients and families better understand and cope with a genetic illness.
“We translate very complicated information into a language that individuals can understand, regardless of their level of education or understanding,” said Susan Hassad, MS, a certified genetic counselor. Hassad was Oklahoma’s first genetic counselor. Today as head of the graduate program at the University of Oklahoma College Of Medicine, she is charged with educating the next generation of genetic counselors.
“It’s partly our job to translate this very complicated information into language that regular people can understand, into everyday language,” Hassad said. “We try to help families connect with other families who have gone before them and really are better teachers for how to deal with problems and difficulties.”
In addition, Hassad said genetic counselors are a critical resource for families, helping them get their children the services they need.
For the Washington’s, OU Children’s Physicians genetics team offers help and more important they bring hope for a family in search of “the light at the end of the tunnel.”
“I just need peace of mind. I need to know,” Suzie Washington said.
Mulvihill said developing a family health history is an inexpensive way to help everyone learn more about factors in their family that can be used to prevent disease and promote personal health in this and future generations.
Washington said she hopes by sharing her family’s story they will help encourage others to take steps to learn more about their own family health histories.