Sagging neck skin caused by PXE.
Image courtesy of Atlas de Dermatologie On Line.

PXE and Academic Research

But researchers did not seem to know much more about PXE, and while doctors could treat some of the symptoms -- for example, plastic surgery for sagging skin -- there was very little knowledge of how the disease worked, or even the location of the gene, mutations of which caused the disease.

Even more disturbing for the Terrys, it seemed that the few researchers who were working on PXE weren’t working together. Within two weeks of learning that their children had PXE, the Terrys were called by researchers asking for blood samples. When Sharon asked why they couldn’t use samples from other researchers, she was told that researchers wouldn’t share samples with one another.