For My Friend Steffen
November 13, 2015
by Mark Dunning
Usher syndrome rings of mortality. It is a drumming reminder of the march of time. We all die cell by cell. We all count the gray hairs and the wrinkles of age. But Usher syndrome provides real data, a measurement of that inexorable loss, degree by degree, decibel by decibel. An ophthalmological exam ends with visual fields and pigmentation and cells thicknesses and a disease progressing as expected, the equivalent of a routine physical exam pontificating, not on your health, but on your progression toward death, as expected.
Recent events have highlighted to me, again, this race against the dwindling hourglass. The Usher community lost one of our best this week when Steffen Suchert passed away from a heart attack. Earlier this year, we lost, senselessly, three members of the Welp family. I never met Ted Welp, but I know, like Steffen, he was a father of a child with Usher, just like me. And I know, like Steffen, he was dedicated to finding treatments for his child, just like me. But the story for Ted and Steffen ended without them witnessing real, viable treatments for their children. And so I can’t help but wonder if that will be my fate as well.
But unless the gods have some unexpectedly early demise awaiting me (I am knocking feverishly on wood as I write this), I sincerely doubt my days will end before we see treatments for Usher. My faith comes from the efforts of people like Ted and Steffen. Ted’s investment in Usher 1b research had a direct impact on bringing the 1b gene therapy to clinical trial. And Steffen’s dedication has similarly advanced many different layers of Usher syndrome research. The truth is we are where we are today, in no small part, because these men dedicated their money, their time, and their brain power to this effort to find treatments. And where we are today is closer than we have ever been to treatments, real treatments, for all types of Usher syndrome.
I learned of Steffen’s death via e-mail today. It came with the subject ‘Sad news’ and left me staring, blurry eyed, at the screen. But the fates left me a reminder of his life. For when I focused again on my inbox, the next e-mail had the subject ‘Usher Syndrome Doctors’. In it was a plea for hope from the family of a newly diagnosed 9-year-old boy. The e-mail concluded with the words “This has been very tragic to our family and we are looking to get some answers. Any help would be great.”
I couldn’t help but think fondly of Steffen as I read those words. My daughter was diagnosed at 8 years old. We, too, went looking for answers. We found them, thanks to people like Steffen and Ted. There is hope now. Because of Steffen, because of Ted, I can confidently write a family that their 9-year-old son will be fine and that I believe, truly believe, that he will never lose his vision. Steffen and Ted gifted me those words. The coming treatments, and the hope they bring, will forever be their legacy.