Learning, Leading, and Loving through Duchenne Muscular Dystrophy

Three years ago, Rachel Poysky (MDiv '00) and James Poysky (PhDPsy '02) were shocked to learn that their son Joel, now 6, had Duchenne Muscular Dystrophy (DMD). "It's a huge shift in your perspective on life," James says. "You have to develop a new set of expectations." DMD--which is one of the nine types of genetic, degenerative diseases known as muscular dystrophy--is linked to a mutation on the X-chromosome and caused specifically by the absence of the dystrophin protein. For about 35% of Duchenne patients, including Joel, the mutation was not inherited but occurred at random. Those with the disorder usually lose their ability to walk by their early teens and few live past their early 30s.

Life with small children is always somewhat chaotic, but because of Joel's special needs, the Poyskys--who also have a one-year-old daughter, Hallie--juggle a number of extra time commitments. "If you're not careful it can consume you," James says of living in a DMD family, so he and Rachel try hard to be pragmatic and supportive of one another when it comes to parenting. "We've made a conscious decision to approach this as a team," says James. "We also try to enjoy the fun stuff as much as possible."

Through their careers and advocacy, the Poyskys have also joined a larger team of people who care about Duchenne.  "After the initial shock and despair wore off for our family," James says, "we began to see DMD as an opportunity to minister to others." While the activist lifestyle initially seemed overwhelming, Rachel and James have been surprised by how quickly and naturally they were able to get involved after making their first steps.

For example, James's clinical work and research--he is a pediatric neuropsychologist at Texas Children's Hospital and assistant professor at Baylor College of Medicine--have put him in a position to contribute to the study of DMD, as well as provide care and education to others about the disorder. James provides clinical care to patients in the MDA Neuromuscular Clinic at the hospital several days a month and chairs an expert panel for the U.S. Centers for Disease Control (CDC), focusing on the development of care recommendations for the disease. Additionally, he sees his research on behavioral issues in children with Duchenne to be quite significant. "DMD also has an impact on the brain because dystrophin--the protein absent in DMD--is typically in the brain, as well," James explains. Because research on the link between this protein and behavior is underdeveloped, many parents don't realize that some of their child's other problems, such as learning disorders, are biologically connected with Duchenne.

Another channel for their service is the national Parent Project Muscular Dystrophy (PPMD) organization, for which James serves on the board of directors. And Rachel, an ordained minister in the Presbyterian Church (USA), recently left her job as a children's and youth pastor at their Houston church in order to take an unpaid position as a regional coordinator for parents of children with DMD.  Both Rachel and James were also involved on the general planning team of PPMD's 2008 Coach to Cure MD fundraising effort, a new partnership with the American Football Coaches Association that Parent Project hopes to expand in the coming years.

The Poyskys believe Fuller has played an important role in preparing them, personally and professionally, for the challenges they now face: "At Fuller, professors make concerted efforts to help you understand others' perspectives on important issues and to communicate across cultures to find common ground," James notes. "Fuller's commitment to cultural and ideological diversity has been invaluable in my work to strengthen communication between various national and international DMD organizations." Further, he mentions Galen Buckwalter, an adjunct professor in the School of Psychology, who was a significant mentor to James. "Dr. Buckwalter really invested a lot of time and energy into me and my development as a person," he shares, "and now I've been able to provide other DMD families with mentoring and guidance." It is this relational emphasis that both James and Rachel most appreciate of their Fuller education: "Your work, professionalism, and dedication are important, but what matters most are your relationships."

The Poyskys can be reached at jxpoysky@texaschildrens.org.