When faced with a diagnosis of a genetic or developmental disease of their child, parents often don’t know where to turn for information and support. But for 10 years, Evenings with Genetics, a program of Baylor College of Medicine’s Department of Molecular and Human Genetics and Texas Children’s Hospital, has offered a venue for parents, and others, to find important resources.
Evenings with Genetics is a seminar series that is free and open to the public. At each session, a different genetic condition or rare disease is discussed, combining the expertise of a faculty member from genetics and from a specialty area involved in care and treatment of the disease. There often are representatives from a support organization related to the disease or an individual speaking from the patient perspective. Seminars are attended not just by parents and caregivers, but also healthcare professionals and even students.
“Many times parents and children, and even adult patients, have never met another person with their same condition,” said Susan Fernbach, RN, BSN director of genetic outreach at Baylor, who launched the series in 2006 with the support Dr. Arthur Beaudet, chair of the Department of Molecular and Human Genetics at Baylor at the time. “With this outreach, we are able to connect patients and families with others similarly affected and with medical specialists. In many cases, people who have never been evaluated are now getting care by a geneticist or disease specialist.”
Fernbach has countless examples of connections made at Evenings with Genetics. One is of Dr. Titilope Fasipe, an instructor at Baylor and Texas Children’s Cancer and Hematology Centers, where she is part of the sickle cell program. She herself has the disease, and was invited to speak as a patient at Evenings with Genetics in 2013, when she was training as a fellow. She didn’t speak about her personal experiences much at the time and struggled with negative stereotypes about people with the disease. What’s more, there was no advocacy group in Houston that she could draw on for support. That changed after Evenings with Genetics. From connections made at the event, two groups are now thriving – Support Our Sicklers and the Sickle Cell Disease Network. Fasipe is active in both groups.
“Evening with Genetics really allowed us to build a sickle cell community in Houston. We formed a strong team of people involved with sickle cell disease. I also ended up finding my voice, and I can give credit to Evenings with Genetics for that. I don’t know how I would have started talking about it otherwise,” said Fasipe, who now serves on the Sickle Cell Advisory Committee of the Texas Department of State Health Services and is involved with the annual Sickle Cell Education and Research Day at Texas Children’s Cancer Center.
Fasipe was impressed by the sickle cell disease presentations of the genetics expert, Dr. Neil Hanchard, and the medical specialist, Dr. Alex George. She said they both spoke in a way that was easy for families to understand, yet in no way “dumbed down.” She’s been to several Evening with Genetics seminars on other topics, and all have been presented in the same way.
Dr. Daryl Scott, associate professor of molecular and human genetics at Baylor, who has spoken at several Evenings with Genetics seminars, agreed that strong emphasis is placed on presenting in an accessible way. There’s also a focus on the latest technology and new genes that have been identified related to a particular condition. He’s had existing patients who have attended the events and there also have been new patients who have come to him after going to Evenings with Genetics.
“It’s a unique program that reaches a broad audience of parents, caregivers and even students who have access to experts they wouldn’t otherwise,” he said. “While it’s not geared to physicians and researchers, in fact anyone can benefit from the information, even healthcare professionals.”
Some topics generate a high level of interest and are addressed at Evenings with Genetics regularly, including updates on autism research, Down syndrome and new genetic testing available for children with developmental conditions. Other sessions take on much more rare diseases and conditions, such as brittle bone disease, Marfan syndrome and neurofibromatosis.
The series has been so successful that it’s expanded throughout Texas through funding from the Texas Department of State Health Services, with seminars in San Antonio, the Rio Grande Valley, and West Texas. Between the Houston and statewide sessions, Evenings with Genetics has reached more than 8,000 people and more than 3,000 healthcare providers. Headsets are provided for Spanish translation, and Spanish only presentations also have been held in Houston and South Texas. Teleconferencing has been made available to groups so that expertise can be shared with people who need it, wherever they are.
Fernbach said the goal remains to provide practical information people can leave with that will help them, and to reach as many as possible.
“What’s made this program possible is the wealth of expertise at Baylor and Texas Children’s and people who are willing to share it in an understandable format,” she said. “When you see next steps developing from these seminars, it’s very rewarding.”