Revisiting the Past
June 8, 2015
by Mark Dunning
We are in the process of transitioning to a new website. The new platform will be more accessible and available in more languages. It will also undoubtedly come with some bugs so please bear with us during the transition. Oh, and shout out a big thank you to all the volunteers, high school and college interns, who have done most of the leg work setting up the site.
There are a lot of places on our current website that I don’t go to very often. I wrote a lot of the content when we launched the site over five years ago. I don’t need a refresher. But as we looked through the content, I came to realize that perhaps I was wrong, that I could use a refresher. It was like digging through the boxes in the attic and finding that thing you forgot you needed. There are things we learn as families with Usher syndrome, things we think we will never forget. And yet we do. These are some of those things we should always remember.
There is Hope
FROM THE WEBSITE: “A diagnosis of Usher syndrome is a traumatic event for a family. There often appears to be no hope for the loved one suffering from the disorder. But while it is true that there is currently no cure for Usher syndrome and few widely accepted treatments for some of its symptoms, there is still hope.
People with hearing loss have more options for communication than ever before. Sign language still remains a viable communication option and new technologies like the cochlear implant and digital hearing aids offer access to quality sound to even the profoundly deaf. Researchers are making significant progress on the retinal degeneration experienced by most children with Usher syndrome as well. There is real hope that viable treatments will be found in the near future.”
MY COMMENTS: Bingo! This is more true than ever. But the hope of treatments for the retinal degeneration isn’t just there for children. Gene therapy and stem cell technology offers real hope for those that are in an advanced stage of the disease. We are building retinas in petri dishes now! There are FDA approved retinal implants! I am beginning to dare to dream that I will be there when some of my older friends, those that have lost their vision already, can see again. There is real hope that this will happen. I don’t think I would have written that five years ago. And there are now vestibular implants in clinical trial. That concept wasn’t even on the radar when this was written.
FROM THE WEBSITE: “Hope here comes in many forms. The Coalition offers families with Usher syndrome the opportunity to connect with other families. We have the best and latest information on Usher syndrome and count many of the world’s leading researchers among our members. We invite families to directly participate in our efforts to search for a cure, to get involved in helping their children. Here, you are neither alone nor helpless.
Here, there is hope.”
MY COMMENTS: The Usher Syndrome Coalition does not directly fund research, but our contribution, providing hope and engaging families, might be the most important step in finding treatments. I no longer invite families to directly participate in our efforts to find a cure, I implore you to join us. We desperately need you. There will be no treatments without you. YOU are our hope.
You Are Not Alone
FROM THE WEBSITE: “Usher syndrome can be a lonely diagnosis. There is not usually a family around the corner similarly diagnosed. You are not alone, however. It is estimated that between 30,000 and 50,000 people in the United States have some form of Usher syndrome. There are literally hundreds of thousands of individuals that have a loved one with Usher syndrome.
So while it can be a challenge to connect with others, you are decidedly not alone.”
MY COMMENTS: Boo! Totally outdated. First off, the Usher Syndrome Coalition is an international organization. What’s with including only the US numbers? Let’s change that. There are somewhere between 400,000 to 1,000,000 world wide with Usher syndrome. At least 400,000! That’s roughly the size of Boston. Who walks around a major city and thinks they are alone? No, no, no. You are decidedly not alone.
More importantly, connecting with Usher families is easier than ever. We know Usher families in 46 different countries. We know researchers and specialists in dozens of countries. There are more than 300 families in our family network. There is no reason for you to be alone. The Usher community is larger and stronger than it has ever been. If you are feeling isolated, please contact us. We can help.
FROM THE WEBSITE: “Few people have heard of Usher syndrome prior to receiving the diagnosis. It is a complex genetic disorder that is not yet fully understood even by the foremost experts in the world. Researchers spend entire careers studying just the vision or hearing component of Usher syndrome. It is going to take you time to learn what Usher syndrome is and how to live with it.
This website has a lot of excellent information on Usher syndrome, including explanations of the causes and mechanics. But few of us are molecular biologists or geneticists. Much of what you will read will be new. That is OK. Ask doctors and other families for explanations. Do not assume that you should have known something. Instead, ask any and every question, no matter how small, until you feel that you are an expert. Remember, it will take time and it will be challenging, so be patient. You'll get it.”
MY COMMENTS: I am just a dumb dad. Yet last month I attended a gene therapy conference and UNDERSTOOD IT! When I wrote that content for the website I had only heard of gene therapy. Now I can write entire blog posts on it. One of my favorite things about the Usher syndrome community is that we have so many researchers with people skills. They are patient with dummies like me. I have learned genetics and gene therapy from the best teachers in the world. You can too. You just need to make the connections and ask the questions. We can help with the former, but the latter is up to you. Just remember, if I can do it, you can too.
FROM THE WEBSITE: “There is a clock ticking with Usher syndrome. We all feel it. The needs of your loved one seem urgent and the tendency is to try to learn it all and get every intervention in place immediately. It is a pace that can not be maintained and can ultimately lead to mental and physical fatigue that is more detrimental to the care of your loved one.
Take a deep breath. Pace yourself. Usher syndrome lasts a lifetime. No one can run that long. Set aside an amount of time a day, fifteen minutes, a half hour, an hour, to set appointments or read about Usher syndrome or to contact other families. Then live the rest of your life. You'll make lots of progress and you'll still have the energy for the long haul.”
MY COMMENTS: Um, yeah. I’m not good at this. It feels like Usher is a gun to my head. Finding a way to escape it, to not live in a panic, takes great effort for me. I’ll talk about this more in the next section. But this remains sound advice. Believe me. I often feel burned to the souls of my shoes. This is a marathon, not a sprint. I have to remind myself of that all the time.
One thing about this website content is starting to bug me. It’s all about caring for your loved one, which is important. But where is the content for the person who actually has Usher syndrome? I’m going to have to write a mea culpa follow-up post about my biases and ignorance. That will be fun!
Care for Yourself
FROM THE WEBSITE: “You need a vacation. Seriously. Do you like to read? Do you like to ski? Why have you stopped?
It is common for families to feel a need to sacrifice in some way when a loved one is diagnosed with Usher syndrome. You feel like you shouldn't be going to the movies or laughing with friends when your loved one is in danger. It is important to remember that your mental health affects the care of your loved one. When you smile and laugh, it makes their lives better. But who can smile when they are under terrible stress day after day after day?
That's why you need to care for yourself. You need to walk on the beach and go to the movies. You need to have dinner with friends and take the day off to go shopping. You do need a vacation, not just because you deserve it, but because it is important for the well being of your loved one with Usher syndrome.”
MY COMMENTS: Boy was this accurate. I need a vacation. Or rather, I needed one. I went to Cape Cod over Memorial Day Weekend. My goal was to escape Usher syndrome. So I didn’t bring the family. I didn’t check my e-mail. I purposely avoided anything that would remind me of Usher syndrome. I failed, of course, but not completely. There were actually times where I lived like a normal human. I admired an Osprey in flight and didn’t wonder if Bella would someday be unable to see such things. I listened to Irish music in a pub without wondering how it sounded through a cochlear implant and enjoyed the Guinness without thinking about where the glass was positioned on the table. It was hard, but I escaped for a few minutes here and there. And I came back stronger because of it.
Talk About It
FROM THE WEBSITE: “Usher syndrome is a very lonely diagnosis. Often family members and friends do not understand the diagnosis or the treatments. It can feel as if there is no one with whom you can discuss your concerns. But you need to talk about it.
Other Usher families are reachable through the Usher family network. There is a person in the network just like you who understands your situation. Trading e-mails or even a single phone conversation with someone who fully understands the impact of the diagnosis can help reduce the strain of the diagnosis considerably.
For those that are uncomfortable speaking with someone new, you can still talk to your family, even if they don't yet understand. Tell them what you know. Teach them about the diagnosis. It's OK to reach the limits of your understanding. It will motivate you to find out more. Talking with others educates them about the diagnosis and can build your confidence as you realize that you are an expert on Usher syndrome.”
MY COMMENTS: This is excellent advice (who wrote this, anyway?). But I would also flip this around. Being available for others with Usher to talk to is incredibly important. I am going to write a whole future blog post on this (for those keeping track, I have now promised two new posts. Hold me to it.) so I won’t spend too much time on it, but this kind of person-to-person support is what keeps families engaged in the Usher syndrome community. And engaged families are THE most important resource we have in finding treatments. We can’t afford to lose anyone. Being there for others might be the most valuable role in this whole search for treatments.
FROM THE WEBSITE: “It is common for families to immediately start imagining what the future holds for their loved one when that person is diagnosed with Usher syndrome. But it is dangerous to look too far in to the future. No one imagines what their life will be like a thousand years from now. Most assume they will be dead. To dwell on such things is paralyzing, so most of us don't. We think about what we're going to do today or where we should vacation this summer. We might save for college or work toward a degree, but few of us make plans more than a few years out. Life is too unpredictable, too uncertain. In short, we enjoy today.
That should not change with a diagnosis of Usher syndrome. The truth is that we don't know what will happen to a person with Usher syndrome. Vision and hearing changes vary by individual. There are a number of potential treatments in development that hold the promise of slowing, stopping, or even reversing those changes. So the frightening future we all fear may very well never come to pass.
You can be fairly certain that the physical condition of your loved one tomorrow will be very similar to the physical condition of your loved one today. Changes with Usher syndrome take years, not hours. So save for college or work toward a degree. Plan your week and your vacation. Enjoy today. Don't miss out on it by dwelling on something that may never come to pass.”
MY COMMENTS: First off, all great advice (again, the guy that wrote this stuff was pretty bright, wasn’t he?). But let’s break this rule completely and look far in to the future. Knowing what I now know about the science of Usher syndrome, the researchers working on treatments, the investment and progress being made, I feel confident in saying that in the future, everyone with Usher syndrome will be able to see. Everyone with Usher syndrome will be able to read a newspaper (I know, there won’t be any newspapers in the future. Humor me. I’m old.). Everyone with Usher syndrome will be able to enjoy the sounds of birds in the morning and sing in tune with the popular songs of the day. And everyone with Usher syndrome will be able to walk a balance beam without falling off. I know all of these things will be true in the future, I just can’t tell you when exactly.
But remember what was written in the first section and never, ever forget it. It’s the one thing I know is right.
There is hope.