This issue’s cover story began with an email I received last summer from David Faughn W’90 sharing an extraordinary story of heartbreak, courage, and hope. Faughn is a lawyer, and he laid out the facts with admirable clarity: his young daughter, after an arduous medical journey, had been found to have an extremely rare genetic disease that “causes progressive atrophy of the cerebellum.” She was about to join a study at the Perelman School of Medicine and the Children’s Hospital of Philadelphia employing the latest techniques in precision genetic medicine in an attempt to discover treatments for hers and other rare genetic diseases.
“My thought,” he wrote, “was that an article could feature the research being performed … with the human interest aspect that it is being done in this case on the child of an alum who is returning to Penn 27 years after graduation to try to save the life of his daughter.”
Yes, I wrote back. That was a story we’d be interested in.
Associate editor Trey Popp tells it in “Hope for Katherine Belle.” And he also delves more generally into the challenges of research and treatment in the staggeringly complex universe of rare diseases, defined in the US as affecting under 200,000 people (and usually many fewer) but which collectively affect 25-30 million, or more than cancer.
Apparently healthy as an infant, Katherine began to lag in motor skills as she moved into toddlerhood. When testing initially identified a disease that few survived past the age of seven, David and his wife Glenda struggled to make the most of the time they would have with their daughter, even as he was haunted by doubts about her diagnosis and began doing his own research on other conditions that could explain her symptoms.
In the face of medical skepticism and recalcitrant insurance companies, he waged a dogged battle to get Katherine additional genetic tests. These established she had a mitochondrial disease of which only a handful of cases had been identified around the world—but one sufferer they connected with online was 15 years old, offering the hope that Katherine too might have those years, and more time to find a cure.
In the Penn-CHOP project that Katherine was joining this fall, researchers are taking mutated genes from individual patients like her and looking at their impacts in a population of zebrafish, with an eye toward testing existing drugs for possible future cures or treatments.
The story doesn’t have an ending yet. The Faughns are raising money for the research through their website hopeforkatherinebelle.com, but there is no guarantee it will lead to a cure or treatment. Meanwhile, her disease is progressive. But for now she is “happy and growing” and “loving first grade,” the Faughns wrote on their blog at the end of November. And, as Trey found when he met her during the family’s visit to CHOP in October, Katherine Belle remains a spirited, imaginative, and surprising child.
Also in this issue, JoAnn Greco details the life and achievements of mental health pioneer Thomas Story Kirkbride M1832 in “Of Beneficent Buildings and Bedside Manners.” Kirkbride developed a humane treatment approach based on giving inmates as much freedom as possible and safely stimulating them with activities and entertainments. Key to his philosophy was the physical space in which patients were housed, buildings constructed according to what became known as the “Kirkbride Plan.”
JoAnn traces Kirkbride’s impact on the development of psychiatry and provides a taste of his extremely thorough—to put it mildly—instructions for operating an asylum on his system. She also investigates the fate of several Kirkbride Plan facilities that are being turned to new uses after decades of neglect.
There was an old Gazette cover from before my time depicting an alarmed-looking cartoon figure in conflict with a “not so sacred” cow. It turned out the figure was Jeremy Rifkin W’67, as I discovered while editing “Rifkin’s Next Revolution” by Alyson Krueger C’07.
The earlier article came out in 1992, which was 25 years after Rifkin’s graduation. It’s now been 50 years, and he’s still going strong, having emerged in recent decades as a prominent voice advocating a “third industrial revolution” built on the “Internet of Things” and powered by renewable energy.
Rifkin’s ideas have captured the attention of ruling elites in Europe and China. In the US, not so much—but that may change, at least among the viewers of Vice Media, which produced a feature-length documentary about him that premiered at the Tribeca Film Festival.
Finally, this issue also features our annual Homecoming photo album and the citations for the winners of the Alumni Awards of Merit and Creative Spirit Award. Congratulations to all!