Mark Dunning is the father of a teen daughter with Usher syndrome and chairman of the Usher Syndrome Coalition. Jennifer Phillips is a research biologist specializing in the molecular cell biology of Usher syndrome. Together, they discuss how science and research impact Usher families.
Ryan Thomason is a husband, father, runner and a nerd with Usher syndrome Type 2. He describes how his life has changed over the past year because of Usher syndrome.
Nancy Corderman and Kidz b Kidz are giving a face and a voice to Usher syndrome so we can raise awareness and funds.
Clare Weigel describes how on March 22, 2013 everything transformed about her, the way she thought, the way she saw the world, and her perception of herself.
Today Martha along with her guide dog, Alvin, begin a walking and literary journey over the next 26 days for the Usher Syndrome Coalition’s “Own the Equinox” campaign.
Last year, throughout the first Own the Equinox campaign, Kate was on the outside looking in. Now, this year, she is ready to step out and speak up.
We live with Usher syndrome, and I mean live with it. Every day it is there, always there.
Walking or running isn’t your thing? Well, that’s OK. There are lots of ways you can raise awareness about Usher syndrome.
Break out the canes, harness up the dogs, grab an elbow and give a face to Usher syndrome.
Booked my flight to Australia. On Usher Syndrome Awareness day I will be Owning the Equinox with Usher families in Melbourne.
Last year we said we needed an Usher Syndrome Awareness Day. Then we went out, and with the help of Senator Wyden and his staff, we got one. The third Saturday in September was declared “Usher Syndrome Awareness Day” and written into the Congressional Record.
Poetry and prose by Kate Morell reflecting on the role Usher syndrome has played in her life.
Our apologies to anyone who wished to attend the 2016 Usher Syndrome Family Conference in Seattle but has not yet registered.
Moira Shea, the Vice Chair of the Usher Syndrome Coalition, writes about how she came to her "a-ha" moment while living with Usher syndrome.
‘I wish I were a psychologist,’ I think. ‘I wish I knew exactly what to say.’ Sometimes I shy away from writing, not knowing exactly what to say. Afraid my words may not be exactly what others want to read.
The key to advancing research into treatments for Usher syndrome is community. Not just a community, but a genetically-diagnosed and accessible community.
The Usher Syndrome Coalition spent a busy two days in Washington, DC. For those of you in the US, stay tuned for a call to action very soon.
To be fiercely independent. Determined. Persevering. Tenacious. Kate wonders if these qualities go hand in hand with Usher syndrome.
Mark Dunning describes his dream of the Usher Syndrome Coalition working with researchers and the National Institutes of Health to identify the most valuable research and the steps that will quickly deliver viable treatments to the Usher syndrome community.
If only I had left my words to be found. If only I had the voice to speak the words I wrote. All I had to do was tell someone, anyone. All I had to do was tell someone those words.
Usher syndrome can mean a lot of things, including community and friendships and family. Wonderful uplifting exhilarating things. But Usher syndrome is also a place with bogs and lowlands where the mist gathers and the sadness pools.
Born in Italy, Dario Sorgato was diagnosed with Usher syndrome type II at the age of 16. Dario describes his passion for travel and adventure and some tips he has collected along the way.
Experiences of a Young Clueless Boy: A little brother's view of Usher syndrome.
Meet Nancy O'Donnell, the new Director of the Usher Syndrome Coalition's International Registry. Nancy looks forward to meeting YOU, the experts with Usher syndrome around the world.
A research group in Valencia, Spain is investigating new therapeutic approaches for Usher syndrome, including the potential impact of vitamins and antioxidants to reduce the progression of the disease.
Moira Shea has Usher syndrome 2A, wears hearing aids and is totally blind. She also has a rock star guide dog named Finnegan.
Licensed genetic counselors Andrea Oza and Danielle Azzariti provide a glimpse of the inner workings of a genetics laboratory and the value of sharing information within the research community.
In the first of our Guest Research Blog Series, we hear from Dr. Gwenaëlle Géléoc who is working to restore hearing in a mouse model of Usher syndrome that would otherwise be deaf. "My hope is that successes in the lab will one day be translated into treatments for Usher patients."
Your participation in the Usher syndrome community is vital to us. The registry is a powerful tool for learning about Usher syndrome and could possibly be the first step to finding new treatments. All of that starts with you.
The Usher Syndrome Coalition provides critical support for research. The Usher Syndrome Coalition does not fund research or do research. But we provide everything else, literally everything else, that is necessary to bring treatments to the clinic.
Here in the U.S. we are coming up on our traditional Thanksgiving Holiday. I figured it was a good time to say thank you to everyone who has helped the Usher Syndrome Coalition and the Usher syndrome community this year.
The Usher syndrome community lost one of our best this week when Steffen Suchert passed away.
Bella is fine. Julia and I are both under strict orders to stop worrying. She doesn’t like seeing us sad or mopey. She doesn’t want us to ask how she is doing. The answer is she is fine.
There is a formula for finding treatments for Usher syndrome and getting them into the clinic. Mark knows because he just made it up.
Kerry Thompson shares her story about the challenges she has faced living with Usher syndrome, and how her family has played an essential role in her success.
Diana lives in Mexico City and has Usher syndrome type II. She has become an active member in the Usher community and aspires to do so much more for others with Usher syndrome, both globally and locally.
Collin helped create Ushersyndroom.nl, an organization working to raise awareness and fund treatments in Holland. Collin also has Usher syndrome type 2a.
Ramona Rice has a strong desire to make a difference as a proud "Usher Chick" and feels genuinely blessed to be one of Usher Syndrome Coalition's members.
Brian Switzer has a deep love for running. He also has Usher syndrome. That won't stop him from running one of the world's most difficult marathon courses on Usher Syndrome Awareness Day.
Caroline Kaczor describes her unique connection to Usher syndrome and her best friend, Rebecca Alexander.
Rebecca Alexander reflects on her path towards self-acceptance. "Having Usher syndrome humbles me not just every day but often every hour and sometimes even by the minute."
On Saturday, September 19th, in honor of Usher Syndrome Awareness Day, the Rose Family will walk together in hope – because we do have much to hope for.
Dominique is working to create an Austrian Usher Community, connecting it to the worldwide Usher Family and to international experts of Usher syndrome. To her, raising awareness means giving hope to people with Usher syndrome and their families.
Lorne Marin describes how he deals with his diagnosis on a daily basis and his climb to raise awareness for Usher syndrome: “I don’t always like climbing. I always like having climbed.”
Danay shares how she has handled her diagnosis and how she endeavors to raise awareness for Usher syndrome from Brandon, Mississippi.
Markku from Finland wants to spread awareness of Usher syndrome and tell the world that a person with Usher can manage fine in life.
Anne Jalakas is a journalist at the National Resource Centre for Deafblindness in Sweden. She is helping raise awareness for Usher syndrome and the entire deafblind community.
Ryan Thomason was diagnosed with Usher syndrome when he was 27 years old. On September 19th, the world's first Usher Syndrome Awareness Day, he will run as far as he can in order to Own the Equinox.
With the autumnal equinox only two short weeks away, we need this Usher Syndrome Awareness Day. We need to Own the Equinox, push back the sunset, accomplish more than anyone thought possible.
Bettina Kastrup Pedersen works with children with Usher syndrome in Denmark. She describes these kids in three words: surfers, fighters and brave.
Rachel Chaikof advocates for change from Cameroon for Usher Syndrome Awareness Day.
In the build up to Usher Syndrome Awareness Day, Chloe is tweeting excerpts from a love letter that she is writing to her daughter, about the hopes and dreams she has for her in spite, because and in the face of Usher syndrome.
Carol Brill refuses to remain invisible as she passionately raises awareness for Usher syndrome and campaigns the Irish government to recognise deafblindness as a unique disability.
Moira Shea can see the treatments coming. They are just ahead of us. Usher syndrome will fade away as our vision for a cure remains strong. So set the challenge for September 19th and own the equinox, when the world goes more into darkness than light. The light will come back.
Since Day 1, Elise and her family have been trying to make Usher syndrome common knowledge.
In honor of Usher Syndrome Awareness Day on 19 September, Molly wants to show the world what our community looks like.
Every day, a person with Usher syndrome faces numerous obstacles. Despite this, Jessica refuses to let anything stop her.
Dave is the father of two children, the youngest has Usher syndrome. The family live in Melbourne, Australia, where Dave will run a marathon on 19 September for Usher Syndrome Awareness Day.
Caroline Brown, Fairbanks resident, marathoner, and most importantly, mom to Galen (5) who has Usher syndrome—provides an initial glimpse into her world of running the Equinox marathon as a fundraiser for Usher syndrome research.
It’s time for our grassroots efforts to go global. Let’s make our Usher Syndrome Awareness Day span the world. You can help in ways big and small. We have a size that fits you and whatever you give will help.
Maybe running isn’t your thing. Or maybe you have an idea of your own. Go for it! Create your own a-thon and help us Own the Equinox.
You want people to know about Usher syndrome, to understand it, to fund it, to cure it. But, boy, that mile a day seems like a lot of effort. You really just don’t feel like getting off the couch.
Finding treatments for the most common cause of combined deafness and blindness is extremely difficult. It seems insurmountable. But is it?
Did you know that regular exercise may actually help you keep your vision longer?
We need to cure the most common cause of combined deafness and blindness. And we can do it. On September 19th, Usher Syndrome Awareness Day, let’s demonstrate that power to make the impossible possible.
On September 19th, we want to Own the Equinox. We need a global Usher Syndrome Awareness Day and we're going to have one.
In addition to the unprecedented ability to target and study disease genes, CRISPR/Cas has promising potential for disease therapy as well. There is reason to hope that this strange bacterial innovation could someday provide a cure for human diseases like Usher syndrome.
We no longer have to hope that someday there will be treatments. There will be. So it’s time to dream bigger than just treatments. It’s time to dream about treatments that come in time...
I have no qualms about sharing my deepest fears with people in this Usher syndrome community. But I don’t really like writing about myself. And I really don’t like asking for help. Today I am going to attempt to do both. Hopefully you will understand why.
I am home.
The suitcase is unpacked.
And I am home.
The following speech was delivered by Mark Dunning at the dedication ceremony for the William J. Kimberling Usher Research Laboratory.
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.
Science is trial and error. Only 1 in 12 potential treatments which are tested in humans actually make it to clinic. But that number is misleading. Those that don’t result in a clinical treatment aren’t necessarily failures. They are practice runs used to adjust dosage, delivery method, and measurement criteria. We learn something from every clinical trial, but we often need a lot of them to get a treatment to clinic.
Up to this point, the focus of the presentations I’ve attended here has been on interventions designed either to correct RP at the molecular or cellular level. The progress, while promising, is also slow and complex. We’re not there yet, and the question remains for people who have RP now, what can we do in the meantime?
Part of the challenge in working out treatments for RP is that the clock is always ticking. While researchers and clinicians work like mad to figure out the mechanisms of different genetic disorders, our patients are steadily losing retinal cells.
Day 2 is in the books, and, whether by virtue of my coincidental itinerary selection or of the magnificent foresight of the ARVO Annual Meeting organizers, today’s talks and posters were the ideal ‘next level’ to the material that was presented on Day 1.
Greetings from Denver, and apologies for the long silence on this blog from me. If you were wondering whether I’d lost interest in Usher syndrome, quite the contrary! I’ve been neck-deep in some very exciting research over the past year, some of which I’ll be presenting here this week.
Bill Kimberling is a man with stories. Hundreds of stories. Thousands of stories. All of them your stories. He compiled them over decades of working with Usher syndrome families. The data, the bland details, are cataloged in wrinkled medical records stuffed in thick manila folders. The good stuff, the touching, the compelling, the inspiring, well, that he keeps locked safely in his heart.
In honor of the dedication of the William J. Kimberling Usher Research Laboratory at the University of Iowa, I ask you, I implore you, to take a few moments and share your stories of Bill.
You’re probably familiar with the old expression that “nothing is free, and there’s always a catch.” Fortunately, there are a few shining exceptions to this rule, and the National Deaf-Blind Equipment Distribution Program, also known as iCanConnect, is one of them.
I had the honor of attending Deafblind Awareness Day at the Massachusetts State House recently. I have attended many of these days and they are always amazing. I would describe why I enjoy them so, but Carl Richardson, the State House ADA Coordinator, gives a much more eloquent description than I ever could: Humbled and awed.
A few years ago there was a 5.8 earthquake in Virginia that literally shook Washington, DC. For people with Usher syndrome, there has now been a similar ground shift in Washington. Yesterday, March 19th, 2015, we held a Congressional briefing on Usher syndrome. It was an incredibly busy and exciting day.
This blog has always been about families. Sure we talk about the science of Usher syndrome, the politics of Usher syndrome, the funding of Usher syndrome, but all of it, in the end, comes back to the impact of Usher syndrome on families.
Family has always been the way through this. Family is the treatment. Family is the cure. That’s how we survive Usher syndrome. We rely on family for support, for assistance, for a shoulder to cry on when things get hard.
On March 19th we will host a Congressional briefing on Usher syndrome. Edwin Stone, MD, PhD, from the Stephen A. Wynn Institute for Vision Research at the University of Iowa will be the featured speaker. Ed will be talking about the exciting state of Usher syndrome research and the need
There are several phases of a clinical trial but phase I is the hardest. It’s that terrifying and exhilarating moment when a potential treatment that has only been tried in animals is tried in a human being for the first time.
Let’s laugh for a little while. I want to laugh. I have clinical depression and laughing is hard. It feels like gargling glass. I used to have a great sense of humor. I want it back.
I have a confession. I hate asking for money. Despise it. The fact that I am doing so should tell you just how important I believe the Usher Syndrome Coalition is to finding treatments for Usher syndrome. I have estimated that we will need $50 million annually for each of the next 18 years if we are going to find treatments for every person of every age with every type of Usher syndrome everywhere.
I am 16 years old and have Usher syndrome. I love horseback riding, photography, and agility with my dogs. This week, I am going to Ireland with my dad. I would not be able to go on this trip if it weren't for Usher Syndrome. I am very excited to meet new people and explore Ireland.
It is Halloween week so it is a good time to write about something very scary. We are at a critical point in the search for Usher treatments. There are a number of promising developments in the lab that could lead to treatments. These are getting close to clinical trial but they may never reach the clinic for one very avoidable reason:
The Usher Syndrome Coalition's mission is to raise awareness and accelerate research for the most common cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher syndrome.
While my dad and others speak, I’m taking over the Usher Syndrome Coalition’s Twitter handle, @UsherCoalition. To help raise awareness for Usher syndrome, I’ll be live tweeting the event with the hashtag #USHFAMILY.
Fifty million dollars is a big number, an intimidating number, a number beyond the imagination of most of us. Personally I think in hundreds and thousands. Anything larger than my mortgage is almost beyond comprehension to me. Oh, I dream of winning the lottery and I can imagine owning an island in the South Pacific. But that is fantasy. It’s not something that I can really see happening. No, fifty million dollars is forever going to be beyond my reach.
Whew. It’s been a tough year in the Dunning household. I’m not writing this to appeal for sympathy but rather out of exasperation. And, as always, it’s all about Usher syndrome even when it is not. In this case, it’s about Bella and her belly.
I have not read Rebecca Alexander’s new book Not Fade Away: A Memoir of Senses Lost and Found. Don’t get me wrong. I want to read it. I was even sent an advance copy by the publisher, which was very thoughtful. Problem is I haven’t seen the book since.
Mike Walsh reminisces on his experience speaking on the Family Panel at the 2014 Usher Syndrome Family Conference at Harvard Medical School.
There is dog named Tater. And there is Bella.
Usher syndrome is about uncertainty. It is not knowing. It is fearing the future and desperately clinging to joyful moments in the present.
In an inspired moment of bravado, someone you know decided to go undercover and pretend to be blind, white cane and all, at Boston’s annual July 4th celebration, moved to July 3rd due to Hurricane Arthur.
I was lucky to meet Mark, Julia, Bella and Jack Dunning a few years ago in Boston as a result of my mum finding the Usher Syndrome Coalition online.
Though he desperately wanted to be there, Bill Kimberling could not attend the International Symposium on Usher Syndrome. Personally, I couldn’t get through one presentation without thinking about Bill. Seems like I wasn’t alone as his name and likeness were on a lot of presentations.
It’s over. The largest gathering of the Usher syndrome community in history. Three days, four nights, nearly fifty speakers, dozens of interpreters, and more than three hundred attendees. The International Symposium on Usher Syndrome, #USH2014, is now history.
I was first diagnosed with deafness as an infant and was one of the first 200 children in the U.S. to receive a cochlear implant as part of a clinical trial. How did I get on that short list? My parents stayed on top of the latest research and reached out to numerous professionals. Years later, at the age of 19, I would come to find out that I had a new battle to overcome.
When Bella was born she was bald as a cue ball. It took almost a year before she had any hair. I couldn’t imagine her with hair. That first year we went to a support group for parents (for deafness, not baldness).
Katherine Lafferty is a certified and licensed genetic counselor in Massachusetts. She is currently a genetic counselor at the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine in Cambridge, MA where she and her colleagues work at the forefront of clinical genetic testing in the areas of hearing loss and Usher syndrome. Katherine also provides genetic counseling to patients and families in the Department of Otolaryngology at Boston Children’s Hospital.
I thought I would write one last time about mental illness and Usher syndrome. Then I’m done. It’s getting too depressing, pun intended (see, my sense of humor IS coming back!). One thing I’ve always struggled with is the difference between depression and anxiety. I tried to write about it a while back but I failed miserably. Now that I’ve been through this experience, I think I can both differentiate between the two and describe their impact a little bit better.
My wife Julia and I learned that our daughter Bella had hearing loss when she was an infant. She was identified through a pilot program for newborn hearing screening. We learned sign language. We tried hearing aids. When she was two, she got her first cochlear implant. There were a million otolaryngology visits. She had hours of speech therapy. We attended hearing loss support groups for parents. Our lives revolved around hearing loss.
From July 10-12th the Harvard Medical School’s Joseph B. Martin Conference will open its doors for the 2014 International Symposium on Usher Syndrome and Family Conference. This means that the world’s leading Usher syndrome experts and researchers will meet face-to-face with the families they work tirelessly to treat.
I don’t know who you are but I know if you are reading this blog post, you should attend the symposium. You should attend because you are a member of the Usher syndrome community and this will be the largest gathering of the Usher syndrome community in history.
Gene therapy is still a relatively new development, and so far, the only USH target being delivered via viral vector in clinical trials is MYO7A (USH1B). There are a few different reasons for this, but all boil down to a numbers game.
Preventing or slowing the rate of retinal cell degeneration in the various forms of RP has been a well-covered topic at the past few ARVO meetings, and this year is no exception.
Since I've spent the past few days talking in generalities, I’ll spend today’s blog giving a brief overview on the research specifically dealing with Usher syndrome.
Another day of scientific discovery has come and gone here at ARVO. Continuing with yesterday’s inspirations from Chris Anderson’s book “Makers”, the theme of today was Crowdsourcing.
Hello once again from ARVO! I’m writing to you from the Orange County Convention Center in Orlando, having just completed the first day of the 2014 Annual Meeting.
About a month ago I wrote that I was dealing with depression and anxiety. I wrote at the time that I would share my experiences in the hope that it inspires others to seek help. Well, we’re one month in and a lot has happened. It seemed like the right time to answer the question a good friend asked me:
My name is Mark Dunning from the state of Massachusetts. As Chairman of the Coalition for Usher Syndrome Research, I am here on behalf of the Usher syndrome community to respectfully request this committee encourage NIH to prioritize research that will eventually expand treatment options for individuals suffering from the severe hearing and vision loss related to Usher syndrome.
I don’t live with Usher syndrome. Not really. My husband does, so I’m a bit like a not-so-silent bystander watching and participating in his journey.
My son asked me last night what happened to me. He was crying his way to sleep. Again. He says he does so every night because he is worried about me. “You never laugh anymore,” he said, “I don’t understand. I just want things back to the way they were.”
Bella wants to drive. I knew this was coming. I’ve seen it on the horizon for the last eight years. I’ve put off addressing it as long as possible in hopes that some epiphany would strike me on how to handle the situation. It hasn’t happened. Bella turns sixteen in October and Bella wants to drive.
A poem by Mani G. Iyer
This post is about you. It’s a thank you. Your efforts are starting to have an impact on the federal funding levels for Usher syndrome. Now you may be thinking ‘he doesn’t mean me. I didn’t do anything.’ But simply by reading this blog, you have done something to help.
I have two children. If you read this blog frequently, you know about my daughter Bella. She has Usher syndrome and I write about her a lot. I also have a son named Jack who is now 12 years old. He does not have Usher syndrome and so I don’t write about him very often. He tends to be a supporting character in the stories.
We have big news on our efforts to raise the profile of Usher syndrome in Washington, D.C. The following language is included in the omnibus spending package that was sent to the President for his signature today:
I know that at least some of you read the post I authored last August on a newly published report on acupuncture treatment for retinitis pigmentosa. Since that time, there has been quite a bit of continued discussion in the Usher community surrounding the October publication of the study in the journal Clinical and Experimental Optometry, at which time the protocol was made available for other acupuncturists to purchase. Given this ongoing discussion, which has taken place alongside a marketing campaign for the practice where this procedure originated, it seemed like a good idea to post an update.
We Usher Coalition Bloggers are a bit of a mixed bag. Adhering to the age-old advice for authors, we all write what we know. Mark and Kate write as people who live with the diagnosis of Usher syndrome and serve as community advocates. What I know is the science of Usher syndrome, and as such, the vast majority of my posts are heavy on facts and light on personal perspectives.
In Part I, we talked about the need for increased federal funding for Usher syndrome research. Today we’ll talk about the process for getting that funding.
Lately I have been obsessed with the question, ‘what would I miss?’
This year the Usher Syndrome Coalition went to Washington D.C. to seek increased federal funding for Usher syndrome research.
You know Grampa didn't want to be Grampa. Grampas were old and he wasn't old. He tried out a lot of names before accepting his fate.
So when I read Jennifer’s take on the current clinical trials for acupuncture I wondered if maybe a focus on the clinical impact, at least in this case, was missing the point.
Sometimes being the resident scientist on this blog is a challenging job. There are promising new developments to write up, but also stories that are more complex, controversial, or just plain worrisome. I’ve put off writing this post for a while because it’s been a tough one to process, but I sincerely believe our readers need to make informed choices about any new treatment options that might come their way, and I hope this write-up will help make that possible.
Bella was twenty months old and had just come out of the surgery for her first cochlear implant. She was groggy and nauseous from the anesthetic. She had a tight wrap on her head. Tubes ran from her arms which were both wrapped to splints to keep her from fussing with her bandages. She was miserable.
A Poem by Kate Morell
Clinical trials and studies on retinitis pigmentosa usually exclude people with Usher syndrome, at least in the early stages. The reason given is often that people with Usher syndrome not only have RP, but they also have hearing loss.
A Poem by Kate Morrell
Here we are four years later and the blog is still missing two key pieces. We need the perspective of someone living with Usher, not just an observant family member such as me. And though Jennifer and I have the United States pretty well covered (I am a proud New Englander and Jennifer is a West Coaster from Oregon), we still lack a regular international contributor. That will all change now that Kate Morrell is joining us.
ARVO 2013 concluded two weeks ago, but there are still a few more noteworthy stories from ARVO to tell, and this is one of them.
Whew! Day 4 is in the books, and what a day it was. I saw more excellent science presentations than I can count (and a few disappointing ones, too, but that’s a story for another day). I engaged in stimulating discussions about research directions throughout the day and managed to catch sight of a few Seattle landmarks while walking and talking with a colleague before hunkering down in my quaint little hotel room to write this up.
Day 3 of the ARVO meeting was filled with a lot of presentations on retinal cell biology—nitty gritty details about how tiny molecules are transported hither and yon inside the cell, and what goes wrong if the transportation system breaks down. Mother’s milk for me, but probably not for most of our readers. There were, however, a number of poster presentations that might be of general interest here:
The talks I attended today were on the topics of photoreceptor cilia, Nanotechnology and Regenerative Medicine, and Stem Cell therapies. Afterward, I saw posters on a wide variety of studies related to retinal degeneration.
Greetings from sunny Fort Lauderdale Seattle, destination for this year’s ARVO meeting. I’m here all week, and I’ll be blogging on the very latest vision research going on around the world that has some relevance to Usher syndrome.
When I was 15, I was diagnosed with Usher syndrome, the leading cause of deaf-blindness in the United States. Although I’d had hearing aids since kindergarten, and could never see in dark places, it wasn’t until I started to trip over things in broad daylight that my parents became truly concerned.
We are going to Grand Cayman Island for Bella. When she was diagnosed six years ago, my wife and I decided to take her to see the world whenever the opportunity arose. It is insurance, in case the unthinkable happens and her vision fails. We want her memories filled with the world.
What I’m asking is, knowing now that you have Usher syndrome, knowing how it felt to find out, would you have wanted to have known the diagnosis earlier than you did?
Testimony of Susie Trotochaud of Georgia
Just a quick post today to give you an update on another important aspect of Usher syndrome research: Funding.
A couple of new stories/updates that will probably be of interest to our readers.
But we are NOT going to ignore the psychosocial impact of Usher syndrome on families. We are going to address it frequently and we are going to fight it with hope.
Jessica Chaikof is a teenager with Usher syndrome. She wrote this poem for her high school English class and has graciously allowed us to reprint it here.
Two deaf twins in Belgium recently sought, and were granted, the right to be euthanized after learning that they would soon also go blind.
I am an animal lover. I make cozy little shoebox homes for the injured birds that regularly smack into our picture windows. I carry spiders, beetles, moths and most other critters who find their way into my house outside, rather than smashing them. A happy, well-fed Golden Retriever is resting her head on my lap as I type this.
Since my return to blogging with an analysis of recent peer-reviewed literature on Usher research, another paper that will probably have relevance to a lot of our blog readers has come to my attention. In contrast to those first two papers on new Usher genes, however, this one isn’t exactly a cause for celebration.
Here is something I wrote several years ago about a vacation with the family:
Taught the kids to fish yesterday. I didn't think they'd enjoy it, but they really did. I also thought that I would. I didn't. They spent five hours fishing. I spent five hours undoing tangles and pulling lures out of trees.
When I think of candy canes, I think of two things. One, they are kind of gross. The plastic wrapping seems to be part of the candy, nearly inseparable and almost as sticky. I remember growing up that I ate as much of the wrapper as I did of the candy. To this day, when I eat a candy cane, my palate expects the taste of plastic and of my fingertips as I scrape said plastic from my tongue. And a candy cane is the only sweet that can be sucked in to weapon form. Ten minutes in your mouth produces a shiv. I can still taste the blood in my mouth from my impaled gums.
Oh, the hormonal tempest that is a teenager. My daughter can argue about the color of the grass. She can break down crying over who was handed the dinner rolls first because, clearly, it was a statement on who among the children was more loved. I’m afraid to make eye contact with my daughter, so it’s hard to imagine the stress of discussing something difficult, like a new diagnosis of Usher syndrome with her.
What if my daughter Bella could have had normal hearing simply by receiving an injection shortly after birth?
During that time, I have gotten an education on teenagers, an experience cast by the prism of Usher syndrome.
In the past couple of months, two papers have come across my desk that I immediately filed under “blog fodder”—reports of two new human genes that are linked to cases of Usher syndrome. This is exciting news indeed, not only because it tells us more about Usher, but because the techniques used to identify disease genes are becoming more powerful and effective all the time.
It is not easy for a professional to deliver bad news to a family. Doctors and genetic counselors are people, too. They have parents. They have children. They understand the impact of a diagnosis like hearing loss or Usher syndrome. They don’t want to hurt or upset the family. It is human nature to try to soften the blow.
I was reading the last post from our guest blogger, Elise, and I was struck by one sentence in particular. Referring to about her son’s diagnosis, she wrote “Two weeks later, he failed the hearing test again.” To explain why that particular phrase stuck with me, let me tell you three quick stories involving some other well-meaning, kind hearted people:
Editor's Note: From time to time we invite guest bloggers to share their Usher syndrome stories and insights. Elise Faucheaux is 28 years old and currently lives in Youngsville, Louisiana with her husband Blair and their son 18 month old son Hunter. She writes regularly about her experiences raising a child with Usher on her blog, Angelic Ears and Eyes.
The above scenario is an amalgam of discussions I have had with adults with Usher. They have asked me to write about it, to let people know it exists, to let others know they are not alone.
When someone is diagnosed with Usher syndrome, there are a lot of services offered to address the physical symptoms associated with the disorder. There are hearing aids and cochlear implants, speech therapy and ASL, FMs and loops and closed captioning for hearing loss. There is mobility training and tactile sign and braille and canes and guide dogs for vision loss. There’s physical therapy, and occupational therapy, and even hippotherapy for balance issues.
The bulk of the presentations I took in today were reports from clinicians treating Usher patients. I don’t get to interact with clinicians on a regular basis, so it is hugely instructive for me to get their perspective on diagnosis and monitoring of the progressive retinal degeneration seen in Usher syndrome
Here at ARVO the last events of the day are the award lectures. Each year, several of the most impacting clinicians and scientists in the international Ophthalmology and vision research community are chosen to receive various awards and deliver a plenary lecture.
Today was an 11-hour maelstrom* of really good science. Of all the great research stories I heard, there are several that will likely be of interest to our readers:
The ARVO meeting started on Sunday, but I’ve actually been here since last Thursday to attend a pre-ARVO meeting on the topic of Retina Ciliopathies. That was an intensely focused two days, indeed. I have talked about the connecting cilium of the photoreceptor quite a bit on the blog, most recently in reviewing what we know about the molecular causes of USH1.
At last year’s ARVO conference there was a presentation reporting successful animal testing for a gene therapy product called “UshStat”*. While this work has not yet appeared in a peer-reviewed publication the ARVO abstract can be found here. The poster presentation at the meeting described the use of a non-pathogenic viral vector to deliver a normal copy of the gene affected in Usher Type 1B (MYO7A) into the retina.
In preparing to write this blog post, I planned to leap right into the meat of the study, because I know that’s what you all are most keen to hear about. However, once I got into it I realized that I’d be doing our readers a disservice by cutting to the juicy center without context.
In this last post in the series, I’ll tell you what we ultimately did to help Bella resolve her problems at school.
Some of you have already noticed the little Facebook widget on the right-hand side of this page, but for those of you who haven’t, please join us in the colossal time vacuum that is social media!
My daughter Bella is thirteen years old. She is in the first year of middle school and has had a very hard time. With her permission, I have been writing about her experiences and what we did as a family to address the issues.
I'm 43 years old and smack dab in the middle of middle age. I can tell you from experience that middle age stinks. I don't see as well as I once did. I had the eyes of a hawk when I was younger. Now I need glasses. When I take Bella to one of her frequent ophthalmologist appointments, I have to squint just to read the same lines on the eye chart that she does.
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.
The current standard of pediatric care mandating that all newborns undergo hearing screenings has been applied successfully throughout the industrialized world. Early identification of hearing impairments gives valuable lead-time to parents and health care providers during which they can plan medical and educational interventions to improve the child's development, acquisition of language skills, and general quality of life.
My daughter, Bella, is thirteen years old and a good student. She has always loved going to school and was one of those kids that teachers described as a joy to have in class. She is even tempered and rarely gets upset.
I haven't been very active in writing for this blog recently. There are a lot of reasons involved, but the biggest has been my daughter, Bella. She's been having a tough time. I have spent a good amount of time trying to help her, which is part of the reason I have not written lately.
A Poem by Mani G. Iyer
Jennifer and Mark will be back after the holidays. Mani G. Iyer was born and raised in Bombay, India and has lived in the United States since 1985. He is deaf-blind due to Usher Syndrome. He became deaf by the age of 4, night-blind by the age of 12, and now has very little usable vision.
"The only thing we have to fear is fear itself." - Franklin Delano Roosevelt
It's hard to believe that I am afraid of a white folding piece of aluminum, especially when there's a little rubber ball on the end of it or maybe a tennis ball. Yet the cane scares me and it should scare you, but not for the reasons you think.
My apologies for not posting recently, but I have excuses (yes, not a single excuse, but multiple excuses):
"I like having Usher syndrome because I have gotten to see a lot of things." - Bella Dunning
In this post, I'll introduce the molecules known to be affected in Usher patients, and begin to describe what is known about their function.
I have a friend with Usher syndrome. She worries about it. I know she does. I can see it in the way her eyes brighten when we talk about potential treatments. I can feel it in her enthusiasm for knowledge about the disease. Yet she does not live like someone who worries about Usher syndrome. She stubbornly refuses to let the future decide her present. She lives for today.
Usher syndrome is a genetically recessive condition characterized by hearing impairment--usually from birth--due to defects in the sensory neurons of the inner ear, and vision loss due to retinal degeneration, which begins to occur in childhood or adolescence and progresses through several decades.
What if Usher syndrome no longer existed? What if it went the way of Polio and Small Pox? But as with the Polio and Small Pox vaccines, this treatment would not change the fate of those of us who already have Usher syndrome. In short, we'd be the last, a people destined to be a footnote in the history books. How would you feel if no one was ever born with Usher syndrome again?
Here's my somewhat belated follow up to Mark's last post regarding the unanswered questions about Vitamin A as a potential treatment for Usher syndrome.
The Coalition for Usher Syndrome Research in conjunction with the Usher Syndrome Foundation and the Decibels Foundation will be holding a third annual Usher Syndrome Family Conference this July 8th in at the Host Hotel in Sturbridge Massachusetts.
You should take vitamin A. You should give it to your children. You should take it, of course, in a dose that is safe and prescribed by a physician, but you should take it. My daughter takes vitamin A and her vision has not changed perceptibly in the last four years.
The last day of the ARVO meeting was short and sweet, and the very last presentation I saw before heading to the Ft. Lauderdale airport was the one I'm choosing to recap here. The talk was by Hari Jayaram of the University College London's Institute of Ophthalmology, who described a collaborative research project in which cultured human retinal cells were implanted into a rat model of retinal degeneration. At first glance it might sound like the premise of a Mad Scientist thriller, but it was actually quite a well-designed and relevant study. Here's an overview of the experimental rationale, set-up, and outcome...
Today at the ARVO meeting I saw a nice poster presentation that may add a bit more data to that story. The authors, from the same research group at U Mass that produced the original patient study published in the British Journal of Ophthalmology, now report the results of dosing mice with a severe form of RP with Valproic Acid.
Today's cool Usher science story comes from Kate McCaffrey and colleagues at Rosalind Franklin University, who are making some interesting discoveries about a new potential therapy for Usher type 1C.
Today was a 12-hour juggernaut of talks, poster presentations (mine included) and really good scientific and social conversations. While many of these situations would make great blog fodder, one series of talks really had the wow factor. This session was entitled "Optogenetics, Visual Function and Restoration".
I'm here in sunny Ft. Lauderdale attending the Association for Vision Research and Ophthalmology meeting-that's right the teeming nerd hordes are at it again.
My daughter has Usher syndrome because of me. She has my genes. I gave them to her. I gave her the mutation that causes a certain protein to be produced incorrectly. I am the reason she was born deaf. I am the reason she can't walk a balance beam. I am the reason her vision is getting worse.
In the summer of 2010, a small observational study of the effects of Valproic Acid was published online in the British Journal of Ophthalmology1. This study reported on seven patients with autosomal dominant retinitis pigmentosa (ADRP) who were given daily doses of a drug called (in its generic form) Valproic Acid, or VPA.
Of course, when you do speak to your child about Usher syndrome, you don't want to freak them out. I can give you some guidelines on what to say, but I can't tell you the specific words or tone to take.
When should you tell your child that he/she has Usher syndrome and what, exactly, should you tell him or her?
A study published in the journal Investigative Ophthalmology and Visual Science this month reports on a study that could lay the groundwork for a clinical trial at some point in the future.
The registry idea is clearly a hit. We've gotten more comments on this posting than any other. Rather than respond to each individual comment (and since I clearly forgot some important details), I figured I would do another post with answers to the most common questions.
There are a number of treatments nearing clinical trial that could potentially help people with Usher syndrome. There are an even greater number of areas of interest that researchers think might be the source of future treatments but which are as of yet fairly unexplored.
Last night was the first of those two times that we'll skate on our home rink. My daughter Bella and my son Jack spent a couple of hours on the ice. I mean that quite literally for Bella. Jack plays hockey. Bella plays Zamboni.
I haven't been completely out of touch with the world of science, however, as I've been working long hours preparing a manuscript for submission. It's a labor of love, to be sure, combing through pages and pages of carefully laid out results, multi-panel figures, looking for opportunities to make tiny improvements and (hopefully) spotting glaring omissions before the reviewers find them.
I spend a lot of time in this blog writing about the desperation of Usher syndrome. I write about the fear that we all feel, the fear of what the disease might one day take from us. But it's the holiday season s and for today, I'd like to talk about the flip side of that fear. I want to talk about the gift of Usher syndrome.
Time passes in the research lab marked by scientific conferences, submission deadlines, and project completion. There's not much awareness of the academic calendar for those of us who don't teach regularly, but from time to time we host a new graduate student for a 12-week stint that corresponds to our academic quarter system, which tends to wake us up to the fact that we actually work at a University
Molly has been a guest blogger on this site in the past and wishes to share more of her experiences. Her past posts have been among the best received on the site.
I see all of these things, I expect them, I internalize them, but somehow I don't believe them. My little girl can't really be losing her eyesight.
Well, it's November and we are still summarizing the International Symposium on Usher Syndrome and Related Diseases that took place in May. That should be heartening for our readers. Obviously a lot happened at the conference.
Thanks to Jennifer for carrying the blog while I procrastinated. I do have a partial excuse. I was in Denmark for a few days at the Usher Syndrome Working Group put on by Sense in conjunction with the Acquired Deaf Blindness Network conference.
To briefly summarize, there is strong experimental evidence to suggest that at least some of the time these Usher proteins physically link together to form molecular complexes that carry out some cellular functions. There are a lot of different Usher proteins involved, so understanding just the activities of those proteins has been quite challenging.
We're slowly progressing through the wealth of interesting talks at the Conference last May, and even though I didn't actually attend the Valencia meeting, I have enough familiarity with the dense molecular topics therein to give an adequate summary and their relevance to the Usher community.
'Why the heck didn't any doctor ever explain their opposition to vitamin A supplementation to me as well as Jennifer did?' I've talked to a lot of physicians that don't prescribe vitamin A, some who are strident opponents of prescribing it, and none of them explained their reasoning as clearly as Jennifer.
I need a vacation.
Over the last 20 years or so, several studies have been conducted examining the effects of various dietary supplements on patients with progressive Retinitis Pigmentosa (RP) from a variety of causes. As a minor but important side note, these studies excluded patients with clinically diagnosed Usher type I, but did include some patients with diagnoses of Usher type 2.
First, a quick update on the Usher Syndrome Family Conference held last weekend in Seattle Washington. In a word: Awesome. Some of the leading experts in the world spoke and they all did so at a level that was possible to follow even for the recently diagnosed. They were great. It was also terrific to see so many Usher adults in attendance.
So, if we agree that change needs to happen, and that we have the power to influence this happening, let's start talking about HOW it should happen.
Julia and I recently attended our first deafblind party and I thought I'd tell you about it.
This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.
This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.
The family conference in Seattle on July 10th is a great opportunity for families not only to connect with other families, but also to meet and talk with some of the leading researchers and Usher syndrome professionals.
The conference was enlightening and, at times, exciting. I'll give you as brief a summary of the two and half days as I can, highlighting what you really need to know.
This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.
Mark began this debate by airing some grievances against the scientific and medical communities. The central charges as I read them (from my anti-hope enclave) are as follows:
At this point, since birth I had been hearing impaired. So the eye opticians asked why I was deaf, but we didn't really know, it was just unexpected. So having been at the opticians for the majority of the day, doing lots of tests, with more and more colleagues coming in to have a peek as they were all so curious.
It is also fact that while there are a number of potential treatments in development, none of those treatments have been used to successfully treat Usher syndrome. Not even in testing or clinical trials.
Usher syndrome has several types and each may have degrees of effect; for example, I was born profoundly deaf and at age 29 learned that I had the very early stages of retinitis pigmentosa.
After writing in parallel for a while about either the science or the personal impact of Usher syndrome, Jennifer and I find ourselves at the interface of these two points of view.
Scientific and technological advances have, over the past couple of decades, brought us to the brink of some viable stem cell therapies for a number of human ailments. The human trials for most of these treatments are, as of this writing, still extremely preliminary, but the rate of progress makes this form of therapy a distinct possibility within the lifetime of nearly everyone reading this blog today.
Before I knew it, I was off the floor, able to go a breath, an hour, a day without fear of the future. We're now three years in to this diagnosis and the future looks less and less like it was supposed to be. I still don't like to travel without my kids. A week away still makes me nervous. I know it's unwarranted, but part of me will remain on the floor covered in orange Cheeto dust until we find a cure. But I can function now.
Every day people search the web and find the Coalition for Usher Syndrome Research web site because they have had reason to suspect that they themselves or a family member have Usher syndrome. They do so because they know nothing about Usher syndrome and, in most cases, have never even heard of it.
The video below has to be one of the best things I've ever found on YouTube. I'll spare you the long boring lecture this time, but I will preface the video by saying that it features some of my scientific role models, most notably Carl Sagan.
Still, I get a lot of questions from families about diet and its effect on the progression of Usher syndrome so it's worth discussing. It is something that intrigues a lot of researchers, but to date there has been little research done on the effect of diet on Usher syndrome.
While most of the science I've discussed on this blog so far has been fairly clinically oriented I think there's some value in spending some time getting back to the basics of the system.
You see there are no widely accepted, scientifically proven treatments for the vision component of Usher syndrome. So just about everything at this point is an opinion.
The results could have an impact on developing Usher treatments in the future. The research describing the disease progression in the mouse model adds a great deal to the understanding of what might be going on at the cellular and molecular level in the retinas of human USH2A patients.
The point is that NONE of us should take the opinion of one person as gospel when it comes to treating ourselves or our children for Usher syndrome, whether that opinion is that of a trusted friend or that of a borderline science charlatan.
The majority of my time on this blog has been spent presenting the inner workings of the scientific process: How the research world turns, why it works, how progress is measured, etc. I've been relentless in my self-appointed mission to convey to you that, in a nutshell, science is hard to do, and easy to get wrong.
A few postings ago I asked that all Usher patients and their families spend fifteen minutes a day working on Usher related activities.
In Part I, I described the gene replacement therapy used in a pilot experiment to treat progressive retinal degeneration in LCA patients. Without rehashing the details, the major finding from this study to keep in mind is this: delivering a healthy copy of the gene via viral vector into the retinas of LCA2 patients resulted in improved vision in most of the subjects.
A compilation of blogs written by people impacted by Usher Syndrome
A few postings ago I asked for our readers to devote fifteen minutes a day to support the cause of Usher syndrome research. I've gotten a lot of inquiries since from people interested contributing the time, but not sure what to do. In today's post and in future posts, I'll give you some ideas on how to spend your fifteen minutes.
The Dunning's daughter, Annabella, has Usher syndrome. The rest of the family does not but they are no less effected by it. Even with the diagnosis, life still goes on and it's mostly unintentional comedy. Usher syndrome stinks, but you need a little fertilizer if you want to grow roses. Read all about it here.
The research I want to share with you involves gene therapy for another retinal disease that shares some similarities with Usher syndrome.
While I'm putting the finishing touches on that opus, I just want to briefly respond to Mark's last post, specifically regarding the relative expertise and motivation of Usher researchers vs. parents, siblings, teachers, social workers, mentors, or other members of the support network surrounding an individual with Usher syndrome.
But the truth is that we, you and I, hold the truly important titles. Being a Da.D. or an Mo.m. or having Us.h. makes you the unquestioned expert on Usher syndrome.
Among the many symptoms of Usher syndrome is guilt. Parental guilt, that is.
The degree to which any single finding might impact the field is largely informed by the context provided by the other data points surrounding it, which can lend support, relevance and strength to the conclusion.
I find the weather to be a lot like Usher syndrome. It's this big mystery that I have no control over that affects my life every day
In the next few posts, I'm planning to present an overview of biomedical research, and I'll begin by discussing the general flow of information from the laboratory bench to the patient.
First up is why funding organizations would be wise to invest in projects aiming to improve early diagnosis of Usher syndrome.
Greetings to all, and a big thank you to Mark for inviting me to contribute to his Usher Syndrome Blog. My name is Jennifer Phillips, and I am a research biologist specializing in molecular cell biology of Usher syndrome.
I'm no longer alone. Starting tomorrow I'll be joined regularly by Jennifer Phillips.
I was a well educated, even tempered parent receiving expected information about my daughter in the best possible manner and I was still crushed.
I am not a writer. I am not a doctor. I am not an expert. I am just the father of a 10 year old girl with Usher syndrome.
One of the neglected aspects of Usher syndrome are the balance issues associated with Usher syndrome type 1. These are forgotten because 1) vestibular abnormalities are not associated in all types of Usher and 2) compared to the other symptoms of Usher syndrome (hearing loss/retinitis pigmentosa), balance on the surface is a relatively benign problem
Physicians worry about an Usher diagnosis. They know the emotional impact of the diagnosis on the family and those not intimately familiar with Usher know only that there is no cure. So they worry that a diagnosis of Usher syndrome might actually do more harm to a family than good.
In short, there is something that can be done. Lots of somethings. But you need the diagnosis and you need it as early as possible. Here's just some of the reasons why early diagnosis is a good thing for a family:
We need to identify all types of Usher syndrome as early as possible for the sake of the families.
To sign or not to sign is still the question before us, only this time we'll look at not to sign. This is generally represented by the Auditory Verbal Therapy approach.
To sign or not to sign is still the question before us, only today we'll talk about American Sign Language (ASL) as a management option for Usher Syndrome. Historically, this has been more than just ASL for people with Usher. Eventually, as their vision degrades, people with Usher who had used visual ASL turn to tactile sign. There are a number of different variations on tactile signing, but for most people with Usher it means one of two things.
To sign or not to sign, that is the question today, and it's a big one when we're talking about Usher syndrome. It's big enough that I spent nearly two weeks trying to find a way to express my opinion on the subject that wouldn't offend, well, pretty much everyone. Nothing is more polarizing in the Usher community or the Deaf community as a whole.
One of the topics of discussion at the conference was the emotional toll of an Usher diagnosis, particularly at a young age, and it's effects on our ability to identify children as early as possible.
The meeting was attended by a dozen researchers and a couple of observers. The goal of the meeting was to try to support the many upcoming clinical trials on Usher syndrome.
A dozen of the leading Usher syndrome researchers will be meeting in Boston on May 12th. It's a small group, but that's a good thing because the goal is to come out with some recommendations to present to the larger community.
What can I do to help my child? That's the first thing parents ask when their child is diagnosed with Usher syndrome. Given that there are no accepted treatments for Usher syndrome at the moment, parents are often encouraged, with the best of intentions, to support research.
One of the hopes of the Usher Syndrome Coalition is to create a community of families, researchers, caregivers, and fund raisers.
I'll post notes on what I hear and what I know about Usher syndrome research and hopefully that brings a little light in to lives of those coping with the diagnosis. We could all use a little hope.
Powered By Firespring.org