By Mark Dunning
That last post was real, of course. I was pretty depressed after Bella’s last visit to the doctor. It made me feel physically sick and lethargic. I was short of temper for days. I ate four cookies on the ride home from the doctor’s office. The worst part is that the news was neither terrible nor unexpected and it was delivered gently by a person I deeply trust with whom I have a personal relationship. In other words I was a well educated, even tempered parent receiving expected information about my daughter in the best possible manner and I was still crushed.
My first reaction was that I am never putting Bella through another test. She hates taking them. I hate driving to them. The results are a stomach punch that keep getting worse with each visit and there is nothing that can be done right now to stop it. Why should I keep going? Call me when things change.
And that’s why it’s relevant to our discussions. We, you and me and everyone with Usher, have to keep going to the ophthalmologist regularly, not just for ourselves, but for the good of everyone with Usher. Here’s why:
Natural History Information on Usher syndrome is Scarce
Because so many families have similar reactions to mine, they are very often lost to follow-up. They see the doctor once or twice then disappear or they show up every ten years for an evaluation. That hurts all of us because we simply don’t know the normal progression of the vision loss in any Usher type. When we ask ‘What should I expect to happen now that I have the Usher diagnosis?’ doctors shrug because they legitimately don’t know. There is no good news in these appointments, like, hey, kids like your daughter still have a 60% chance of retaining usable vision until they are 50 years old because no one knows the real progression. Instead it’s just a foggy uncertainty and that’s often worse than bad news.
Development of Treatments
As we just said, we’ve lost the natural history information on many, many families. So not only have we lost the information about what is normal, we have lost information about what is not. In particular, we have lost people who’s vision remained comparatively good. That’s tragic because they might very well hold the answer to potential treatments. We don’t know what diets the ate, habits they had, or medications they took that held off the deterioration of their vision, any one of which could be a potential treatment for all Usher patients.
Measurement of Treatments
Bella takes vitamin A and we eat fish twice a week. There is the hope that it will slow down the vision loss, but the truth is there is probably a fifty/fifty split among physicians on it’s effectiveness. This is because we don’t have the data on enough people to prove it’s effectiveness. Too many families like mine get so spooked by the test results that they either 1) stop the treatment assuming it doesn’t work or 2) keep doing the treatment but don’t continue the follow-up exams. There are comparatively so few Usher patients in the world that studies need to follow a high percentage of them to get statistically relevant data. So if we choose to drop out of sight it doesn’t just potentially hurt Bella, but everyone with Usher.
Notification of Treatments
This is the big reason why you should continue to see your doctor regularly. We are close on a number of treatments. There will be a day when you walk in to that office and your doctor tells you about this great new treatment that might help you. That’s not a dream, but a certainty. It’s just a matter of time and it’s reason enough to keep going.