Rare disease skin
When Ryan Geismar was born on November 22, 1998 his mother Ruth knew something was wrong right away. The doctors wouldn’t let her hold him or see him. Ryan was born with bright red skin, which the doctors described as a severe rash. Neonatologists were called in immediately, and slowly they began to find other abnormalities: a cleft palate, webbed toes and fused eyelids. They also found that what they initially believed to be a rash was severe skin erosion, affecting 70 to 80 percent of his body. Ryan was whisked off to the neonatal intensive care unit and doctors scrambled to find a diagnosis so they could figure out how to treat him. None of them had ever seen a baby with ectodermal dysplasia before or even heard of a case as bad as Ryan’s. While they searched for a diagnosis they decided to treat him as a burn victim.
Three days later the diagnosis came from a skin biopsy. Ryan had Hay-Wells syndrome, one of the rarer forms of ectodermal dysplasia. He went home, but returned to the hospital a week later in septic shock from a skin infection. He spent the next six months in reverse isolation in the pediatric intensive care unit because he kept getting skin infections. At one point he contracted a yeast infection so severe that he had yeast in his bloodstream, which could have proved deadly.
While in the PICU, doctors also worked on Ryan’s feeding issues. His cleft palate made it difficult to feed him and he exerted more calories than he took in. He was given a nasogastric feeding tube, which was eventually switched to a gastric feeing tube when he dropped to under three pounds. They quickly devised a treatment plan for his skin, applying Aquaphor, Vaseline and gauze dressings, which were changed every six hours.
At six months old, Ryan was finally able to go home with round-the-clock nursing care. Slowly but surely, things improved. His cleft palate was repaired when he was 14 months old, and eventually his fused eyelids were too. At age three he began attending the Henry Viscardi School, a New York state supported special education school for children with severe physical disabilities, and a year after that he attended an intensive feeding program to try to transition him off the feeding tube, which was finally removed when Ryan was eight years old. And over the years, his skin started to heal – but it was a very long and slow process.
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Is the current EU definition of a rare disease satisfactory?
IPPOSI supports the current EU definition of Rare Disease being extended to the whole of Europe.