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Student group influences CHARGE syndrome research landscape

Trip to conference in Australia supports families dealing with rare disorder

Contact: Dan Digmann

​A team of 11 Central Michigan University undergraduate and graduate students shared their cutting-edge research and influenced the lives of children and families from Down Under who are living with CHARGE syndrome, a rare disorder that occurs in one of 15,000 births worldwide.

"Even though this was my second CHARGE conference, it still amazes me how different the atmosphere at these conferences is than other conferences," said Gretchen Imel, a senior from Rochester Hills who is pursuing majors in therapeutic recreation and psychology. "All the parents are so receptive and enthusiastic about our research that it fuels our fire to do more."

Psychology professor and CHARGE syndrome expert Tim Hartshorne guided the students as they each presented posters highlighting their research into this genetic disorder that can cause deafness, blindness, heart defects, development and growth issues, and physical anomalies. Hartshorne started researching behavioral issues associated with the syndrome in 1999 and launched the CMU CHARGE lab in 2004. It is one of only two labs in the United States dedicated to CHARGE syndrome research.

Among the many aspects Hartshorne said he likes about the smaller conference hosted by the CHARGE Syndrome Association of Australasia — this was his 13th time attending— is that it encourages families from Australia and New Zealand who deal with the daily challenges of this disorder to attend. This offers students opportunities to directly interact with families and play with children and adolescents living with CHARGE syndrome.

"I'm impressed with the engagement of the parents who looked at the research posters, took pictures of them and then talked with the students to learn more," Hartshorne said. "Then the parents and their children find all of my students on Facebook and maintain that dialogue and connection. I think they are so appreciative that someone is looking into ways to help them and make a difference."

The first research articles on CHARGE syndrome weren't published until 1979, according to Hartshorne. He said this is why there is so much for people to learn about diagnosing and treating the spectrum of this complex disorder.

In their words

Students share insights into how the CHARGE syndrome conference affected their learning and lives

Shelby Muhn
• Lincoln, Nebraska, first-year doctoral student
School psychology

"I was hoping to interact with people on various ends of the CHARGE spectrum. The poster I brought was research on post-traumatic growth in parents with children with CHARGE. I was able to hear from parents firsthand on what they have gone through and how they have grown from their experiences. It is amazing to see what new sense of purposes have grown in these families. I have always been very interested in mindfulness practices such as yoga and tai chi and its effects on human development. I was able to meet an expert in deafblindness while in Australia who has been teaching her version of tai chi — fun chi — to students with disabilities in the classrooms for over 12 years. I am very excited now to have the opportunity to research fun chi's effects on executive functioning in children with disabilities for my thesis."

Gretchen Imel
• Rochester Hills, Michigan, senior
• Therapeutic recreation and psychology majors

"I made personal connections with many of the parents and other professionals. I now have friends on the other side of the world and understand how tightly knit the CHARGE community is. Attending this conference has further solidified my decision to go into the career I have chosen. Interacting with individuals who have a wide range of multisensory impairments has honed my skills to become a future recreation therapist. I have a better understanding of creatively approaching my future clientele to make programs that fit their specific needs. I also hope to educate other professionals I work with about this rare genetic disorder so if they come across it they will have an understanding of how to interact and treat these individuals."  

Megan Schmittel
• Warrenton, Missouri, fourth-year doctoral student
• School psychology doctorate

"I was able to meet new families and catch up with many individuals, families and professionals who I had previously met. Through the consultations, I also was able to learn more about the struggles that parents are currently going through on a daily basis. The conference enhanced my educational goals by helping me to build connections with families and professionals. These connections will be important as I graduate from CMU. I intend on staying active in the CHARGE community, but I know it will be harder to do so once I leave CMU. Therefore, making these connections will help me continue to be supportive and active in the community. Hearing about the parent concerns makes me excited to get back and focus on my research so that I can better help parents."

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