by Mark Dunning
My daughter Bella has a genetic disorder known as Usher syndrome type 1b. She is deaf and she is losing her vision due to retinitis pigmentosa. She also has vestibular issues caused by Usher syndrome.
Thankfully the end of Usher syndrome, of vision loss and hearing loss and vestibular issues, is inevitable. Just look at the research being done today. Gene therapy trials started last year for Usher 1b, the very type of Usher syndrome that Bella has. There are oligonucleotides that rescue hearing and vestibular what in Usher mice. Stem cells are being used to create inner ear hair cells and retinal cells. There are cochlear implants, retinal implants, and vestibular prosthetics. At some point in the not too distant future, Usher syndrome will be a nuisance, treated at birth and then forgotten. Or, perhaps with pre-implantation genetic screening and in vitro fertilization, there will be a point in the future where no one will ever be born with Usher syndrome again, making it just a bad memory to future generations of humanity.
And it’s not just Usher syndrome. There are readers of this blog dedicated to treating almost every genetic disorder. There will come a time in the future where all genetic diseases go the way of polio and smallpox and the world will be a better place for it. When we finally find a way to treat or better yet restore Bella’s vision, I will collapse into a sobbing mess of thankfulness.
Yet my daughter and I are undoubtedly better people because of Usher syndrome. Bella is tougher than anyone I know because she has spent her life shaking off the stubbed toes and bruised elbows and fat lips that come from having poor balance and poor vision. She is braver than anyone I know because she has spent her childhood in hospitals having tests that would make Stanley Kubrick queasy. I mean have you SEEN what happens during an ERG? They peel your eyes back and stick wires on them like something out of Clockwork Orange! Bella has one every year without complaint.
Now, obviously, as a parent I would have loved to have spared her such pain and given the choice, I would have. And that’s what scares me. Had pre-implantation genetic screening of embryos been common practice when my wife and I were contemplating having children, there would have been no Bella, at least as we know her today.
She would have been less tough, less brave. She would not have had a hard time transitioning from grade school to middle school. She wouldn’t have dropped Spanish because she was overwhelmed. She wouldn’t have ended up in a homeroom full of other kids having trouble transitioning in school and befriended a kid with a social anxiety disorder who was being bullied. Yesterday she would have just gone on the Spanish field trip to the Mexican restaurant and ignored the kid with social anxiety disorder who was sitting at the booth by himself.
But that’s not what Bella did. Bella asked the Spanish teacher if she could go on the field trip to the Mexican restaurant even though she doesn’t take Spanish. Bella, who hates dark restaurants because she can’t see in them or hear in them, asked if she could go because she knew that kid would be sitting alone in the booth and she didn’t want that to happen. And Bella made my wife cry when she told her the story, cry because Bella doesn’t deserve to have Usher syndrome and because my wife is so thankful to have a daughter who would do such a thing.
Bella doesn’t consider herself deaf. She doesn’t consider herself blind. She considers herself an animal lover, a horseback rider, a dancer, an honor roll student, a comedian, an artist, a teenager, and a good friend. Usher syndrome does not define Bella. But it does impact everything she does, often negatively, but just as often positively. Bella is who she is because she has Usher syndrome.
And I am who I am because Bella has Usher syndrome. I am the Executive Director of the Coalition for Usher Syndrome Research because my daughter has Usher syndrome. I have learned about biochemistry and genetics because of Usher syndrome. I have probed the inner workings of our government, helped hundreds of families cope with the diagnosis, spoken at conferences and universities, and become a member of the Board of Directors here at NERGG, all because of Usher syndrome. You would not read these words if Bella did not have Usher syndrome. I don’t remember who I was before Usher syndrome, but I know I am a better person, and a much better father, because of it.
I spend most of my life trying to rid the world of Usher syndrome. I believe that doing so will make the world a better place. I hope I’m right. I just know that the world is a better place with Bella in it and that I’m glad I didn’t have a choice to change who she has become.
For more about Usher syndrome, please see http://www.hearseehope.com/tell-your-story/the-dunning-story/