by Mark Dunning
For Usher treatments to be found, someone is going to have to take a risk. Someone with Usher syndrome is going to have to be part of a clinical trial. Someone is going to have to be the first human being ever to try a particular treatment. Oh, it will be tested on animals and the researchers will have vigorously studied it. They would never try it unless they had real hope that it would turn out to be a viable treatment. But the fact remains that until a treatment is tried in a human body, no one knows for sure the result. So for us to find viable treatments for Usher syndrome, someone is going to have to take a great risk.
That someone will not be my daughter Bella. Well, at least I know that someone won’t be Bella before she is an adult. After that, it’s her call. But while it’s my decision, she won’t be participating in a phase I clinical trial. I’ll do a lot to support Usher syndrome research, but that is just a step too far for me.
That is not true for other parents. The first step in a clinical trial is a safety trial. This is done to make sure that there are no unexpected and seriously adverse effects of a treatment. These safety trials are usually done only on consenting adults for obvious reasons. But I have had parents ask me if I would help them pressure researchers to accept their kids in such trials. They want a treatment as soon as possible and they are willing to take the risk. I won’t do it, of course, but they believe their actions are in their child’s best interest. It’s not a step too far for them.
I know other parents who have taken their kids to India, the Dominican, and China in search of treatments that are questionable and very risky. Most of these are not approved by the FDA and in some cases are illegal in the US and Europe. But these parents think the risk is worth it. Again, that’s further than I would go and not something I would ever recommend. (plus it drives Jennifer insane)
There is one risk that we have taken with Bella in trying to find viable treatments. We have willingly had her participate in videos, speak in public forums, and written about her in, ahem, certain blogs. We made the decision to involve her in these things because we feel it is the best way to help her.
Readers of this blog know that I am a vocal advocate of creating an Usher syndrome community. To find treatments for Usher syndrome we need two things: 1) We need to better understand the disease and 2) we need people willing to participate in clinical trials. We just discussed how difficult it can be to find people to participate in clinical trials. You need a large group of people to find those few who are a) willing to participate, b) able to participate, and c) appropriate candidates.
Understanding the disease is no less difficult. Deafblindness carries a stigma and it is a terrifying proposition. Historically, people with Usher syndrome have either kept to themselves or been socially isolated by the disease. We need the opposite. We need them to be visible and open in discussing the disease. We need them to take them time to visit with researchers and answer all manner of personal questions and take all manner of tests so we can better understand their condition and how their lifestyle may have contributed to it.
We also need them to talk publicly about their condition because that helps bring others forward. It raises awareness. Usher syndrome is a rare disease. To find viable treatments, we’re going to need everyone to participate. Hearing from others with the disease is what draws people out. Seeing the success of others makes the future less frightening.
I write about this a lot, but we also walk the walk, as it were. We organize family conferences and Bella not only attends, but sometimes she participates in family panels. She meets other people with Usher, sees adults with canes, sees parents cry, hears about fears and difficulties. She participates in promotional videos and has to talk to her Dad when he’s writing some silly blog post about her.
There are benefits to this, of course. She gets greeted warmly by people who she doesn’t know but who know a lot about her. She gets invited to visit people in exotic places, people she has never met but who have heard her speak or read about her and been inspired by her. It’s nice to be an inspiration.
But there is a cost to this as well. Bella is thirteen years old and knows more about Usher syndrome that just about any other thirteen year old out there. She knows adult things about Usher syndrome. She knows people with a cane and a dog. She has seen parents cry and adults tear up. She wonders if she’ll be able to drive. This is a lot for a thirteen year old girl to process.
And being told you are an inspiration and feeling like one are two different things, especially for a gangly adolescent struggling to pupate from a child to an adult. Teenagers make LOTS of mistakes. They do unintentionally foolish things and they are very aware of how they are perceived. It is hard to be a teenager. It is harder to be a teenager with Usher syndrome. It is nearly unbearable to be a teenager with Usher syndrome who knows an entire community is watching you.
We’ve had a lot of team meetings with Bella’s teachers, guidance counsellors, and myriad others who support her in school this year. We discussed the pressure Bella feels being one of the faces of Usher syndrome, of knowing all that she knows about the disease. One of the counsellors said, “I can’t imagine how hard that must be for a thirteen year old girl to deal with.”
I felt like a terrible parent. Worse still, I felt like a fraud. I advocate sharing as much about Usher syndrome with your children as they can handle. I have written in this blog about what to tell your child about Usher syndrome. That post was picked up by a number of different mediums and reprinted in a couple of other languages. And there I was, discussing my daughter’s problems in school, and realizing that I was a contributor to the problem. Not only that, but I may have just given terrible advice to a lot of others. It’s bad enough messing up your own kid, but to think you may have messed up the lives of others, too, is an awful feeling.
On the ride home I talked to Bella about all of this. The quotes are paraphrases as I wasn't taking notes at the time, but I remember the conversation well and confirmed the message with Bella. I asked her about the public speaking and the videos. She’s thirteen years old, I said. She can make her own decisions about participating from now on. She smiled and said “I like doing the videos. My friends are all jealous that I get to be on camera. And I like to talk in front of people. I like to make them laugh and make them feel better.” Which, of course, made me feel better. “I was just tired in San Diego,” she continued, “And I was nervous. I didn’t think I did a very good job. I don’t like feeling that way.”
Then I asked her about the family conferences. She’s met adults with canes. She’s heard a lot of people talk about their fears. Does she worry about going blind? “Sometimes,” she said, “but I don’t really think about it. I make friends at the conferences. I hear all the things you are doing. I know you are doing everything you can to help me. I know you’ll take care of me no matter what.”
And with that, a weight lifted. I might still be a fraud on many levels, but I wasn’t wrong about talking to your child about Usher syndrome. Talking about it was a comfort to Bella. It was the right thing to do.
I’m still uncomfortable using Bella to raise awareness about Usher syndrome. Well, maybe ‘using’ her isn’t the right term any longer. It may have been at one time, when we chose to have her participate in videos and we chose to have her attend family conferences and we chose to have her speak in front of people. But now she’s thirteen and in many ways she’s grown up. She’s taller than my wife and she’s braver than me. She’ll continue to be involved in raising awareness about Usher syndrome, but from now on, she’ll be a partner in determining the risk. She’ll be involved in making the decisions.
Then Bella will decide how far she’ll go.