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Tuesday, July 21, 2009

Feeling Down? Here's Why You Should Keep Going.

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.

Saturday, July 18, 2009


By Mark Dunning

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.

I have taken my daughter to Iowa, Seattle, and Philadelphia. I’ve gotten advice from people in Sweden and Spain and Israel and England. She’s had molecular and vision field and dark adaptive tests. She’s had fundus photos and OCTs and ERGs. We’ve spent hour upon hour upon hour sitting in the dark or, worse, a waiting room. She takes vitamin A. We’ve eaten fields of spinach and an ocean of fish.

I attend monthly research calls and rub elbows with the best and brightest in the world. I have the top people at the Foundation Fighting Blindness, Casey Eye Institute, Harvard Medical School, and Children’s Hospital on speed dial. I have access to the finest medical care in the world in Boston and speak frequently with the best people at NIH.

I know dozens of families with Usher syndrome. I maintain a web site on Usher syndrome. I write a blog on Usher syndrome. I tweet about Usher syndrome.

I am supposed to be different.

But I’m not. I am just the father of a 10 year old girl with Usher syndrome and my daughter’s vision is still failing. It gets a little worse with every test. Her vision field constricts a little more. The amount of pigment in her fundus photos increases a little bit. The response on her ERGs gets a little smaller.

And I lose hope. I can’t sleep. I constantly fight back tears. I lay in bed all day. I find no value in the warmth of the sun or the warmth of a smile. I think about death, not by my own hand, but by time. Will I live long enough to see her see? Salvation seems so far away, just a dot of pigment in the distance. I’m dying with her, one cell at a time.

I’m down. I’m staggered, stunned, my face on the canvas. The world wobbles and there is no way I can get up this time. This time I’ll just lay here until I’m counted out. This time I’m finished.

Yet I still paw at on the ropes. The world settles enough for me to find purchase. I slide my feet underneath me.

And I get back up.

I owe some blog entries. I’ll get caught up next week once I’m back on my feet. The fight’s not over.

Wednesday, July 8, 2009

Why early diagnosis of vestibular abnormalities is important

By Mark Dunning

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. These kids might be late to sit up and late to walk, but they do sit up and they do walk eventually. But early identification of Usher syndrome as the cause of balance issues is important for a number of reasons.

Physical Therapy
There are three anatomical systems that contribute to balance. The first, as we’ve discussed, is the vestibular system which is a collection of canals in the inner ear that we use to interpret linear and rotational movements. These are also the things that make us nauseas when shaken up. Second is vision. We use our eyes to tell us what is up. You don’t stub your toe more often in the dark simply because you can’t see. You also stub your toe more often because you are having difficulty maintaining your balance, so you’re widening your base and staggering slightly.

The third is muscle strength. Your muscles are ultimately what hold you upright. Vision and vestibular function simply help you interpret the right position to hold your body for the best balance. Think of leaning way forward or way to the side. Eventually you fall over. Now think of gymnasts. They can hold themselves in gravity defying positions because of they have the strength and flexibility to do so. The reason kids with vestibular abnormalities eventually are able to walk is because they eventually develop the muscle strength to offset the lack of vestibular function.

Physical therapy, hippo therapy, and yoga (among other activities) can help kids with vestibular abnormalities develop the strength and flexibility to participate in just about any activity. For instance, many Usher type I kids eventually learn to ride a bike. It can be nerve racking for parents, but they do it. So once again here’s an argument for early diagnosis. Kids are most successful when they get therapy to develop muscle strength at a young age. It’s simple really. The earlier they develop the strength to walk, the earlier they walk.

The Bigger They Are, The Harder They Fall
Children normally learn to walk somewhere around one to one and half years of age. For a child with the vestibular issues associated with Usher syndrome, it is not uncommon for the child to walk a full year later than that. That’s another year of tottering and stumbling and crashing and general unsteadiness. It’s also another year of growth. A two and a half year old child is, on average, 25% heavier than a one and a half year old child and nearly a half a foot taller. The adage ‘the bigger they are, the harder they fall’ has some truth to it. When these kids take a tumble, and they do it a lot, they are at greater risk of injuring themselves simply because they are falling farther with more weight and doing so for a longer period of time. Parents should be aware of the safety risks associated with the vestibular abnormality so they can compensate appropriately. Again, the earlier they know, the better.

Elimination of Other Diagnoses
We talked about this in our post about why early diagnosis is important to physicians, but it’s important to physical therapists and early intervention staff as well. A child might walk late for a lot of different reasons and those reasons influence the exercises a physical therapist recommends. Without an Usher diagnosis, physical therapists don’t know where to begin. They only learn the right approach through trial and error. They can focus on the best exercises for improving core strength if they get an Usher diagnosis early.

The Psychological Impact on Families
This is probably the most important reason why early diagnosis of the vestibular abnormalities of Usher is important. We have discussed previously the psychological impact of a hearing loss diagnosis on parents. That is part of this as well.

An infant is an empty vessel. That moment of birth is profound for a lot of reasons, not the least of which is the potential with which a child is born. You could be holding Ghandi in your arms, or Babe Ruth or Einstein or Mozart. Now the chances of it being true are slim, there's only been one Mozart, after all, but for those few moments, those precious few weeks and months, your child can truly accomplish anything.

Now most of us find out our child is not destined to be Mozart when he or she begins to slaughter the clarinet in fifth grade band. But by then he or she has demonstrated other strengths. He’s good at math or soccer or she’s good at art or writing. It’s OK that they stink at music.

But for a parent of a newborn child identified through the newborn hearing screen, that reality slams home at an unwelcomed time and at an unwelcomed pace. Before you change your first diaper, you know your kid is not destined to be Mozart. Before your child can smile, laugh, or even recognize you, before they are much of anything at all, you are already keenly aware of what they can’t be.

So we as parents start grasping. We start looking for any progress, any sign that our child is like the other kids. We no longer crave greatness. We crave normalcy. And when your kid laughs for the first time, it’s rapture. When your child screams with recognition when you walk in a room, you dance with joy. And when your child takes his or her first step...

And there is the problem with Usher syndrome. Parents of children with Usher syndrome often talk about the other shoe dropping when they learn of the vision problems. The truth is, though, that vision loss is the third shoe. The second shoe is being late to walk and it can be every bit as frustrating for parents and for the child as being late to talk.

The worst part about the Usher syndrome diagnosis is not knowing what the future holds. Parents don’t know what to expect. Will I be able to communicate with my child? Will my child speak? Will my child sign? Will my child lose his or her vision? Just as difficult in those early years is ‘will my child ever walk?’ That is a real concern for parents of children with undiagnosed Usher syndrome that are late to walk. All the other kids your child’s age are walking. Why isn’t your child? What is wrong? Will he or she ever walk?

Early diagnosis of Usher syndrome can remove that concern from parents. Yes, your child will walk. They may walk late, but they will walk.

I know I owe a post on Why early diagnosis is important to funding organizations. It's coming, but this was important, too.

Thursday, July 2, 2009

Why early diagnosis of Usher syndrome is important to physicians

By Mark Dunning

We spent the last post talking about why early diagnosis is important to families, but there are other parties we need to convince about the benefits of early diagnosis as well. Families usually learn about Usher syndrome through their local physician and many physicians struggle with the diagnosis. Now realize that we're not talking about the physicians that are members of the Usher Coalition. We're talking about the typical family physician or the local specialist. These are the people that refer patients to the experts in Usher syndrome. These are the doctors that can order the genetic tests that then gets the ball rolling toward a definitive diagnosis.

Many of these doctors are hesitant to pursue a diagnosis of Usher syndrome. They want to see people improve after a diagnosis. That's the point, right? Figure out what is wrong and then fix it. But 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.

Of course, as we discussed in the last post that is not true. A definitive Usher diagnosis is a good thing for a family for a lot of reasons. There are also additional reasons that might not be important from the perspecive of a family, but are important physicians. So that's what we'll discuss today. Let's also be clear about what we mean by a definitive diagnosis, though. We're talking about genetic testing here, molecular confirmation of an Usher mutation. We want physicians that suspect Usher to order that test. Here's why.

Eliminates Other Diagnoses
One of the best reasons for definitively diagnosing a patient with Usher is that it eliminates all other diagnosis. No physician wants to put their patient through endless tests chasing a diagnosis. Hearing loss combined with vision impairment is a common occurance. In fact, 50% of kids with hearing loss have a visual impairment of some sort versus 20% of those with normal hearing. Now, not all 50% have Usher syndrome. So chasing one of the many causes of visual impairment in kids with hearing loss can be time consuming, costly, and overly demanding of a patient. For instance, many young children require sedation to have an ERG. It's just too difficult for them to do unsedated. But a sedated ERG is hard on the child, emotionally straining on the parents, expensive, and time consuming. In the end, a physician might be able to diagnose Usher by the ERG only, but not the specific type (more on that later). A simple blood test is more definitive, more accurate, and can eliminate the excessive testing that can go along with the search for a diagnosis.

Many Upcoming Treatments are Molecularly Specific
We stated the obvious earlier when we said that physicians want to improve the lives of their patients by a diagnosis. If all goes well, we'll have treatments available to physicians in the next few years, but those treatments will most likely be molecularly specific.

One of the most promising treatments for vision loss is gene therapy. But as it says in the title, gene therapy is gene specific. A gene therapy treatment for Usher syndrome type 1b not only won't work for Usher syndrome type 2a, but it would most likely be very harmful. This is similarly true with some of the promising drug therapies. They work on specific types of mutations, such as nonsense mutations, won't work with other types and again might very well be harmful if used improperly. Remember, one of the big concerns of physicians is that there is no cure for Usher syndrome. That should change in the next few years, but it won't help any patient that has not been diagnosed molecularly.

Accurate Genetic Counseling
Genetic counseling is the process of advising families on the risks and probabilities associated with a particular inherited disorder. Families use the information for family planning and management decisions. There are a number of genetic causes of hearing loss and not only do they not have the same risks, they don't all share the same probability of occuring in future children. So accurate genetic counseling can be critical to a family and obviously it is not possible without a genetic test ordered by a physician.

So there's some physician specific reasons why early diagnosis of Usher syndrome is important. In our next post on the subject of early diagnosis, we'll talk about why funding organizations would be wise to invest in projects aiming to improve early diagnosis of Usher syndrome.