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Saturday, February 20, 2010

Your Fifteen Minutes, Part III

by Mark Dunning

"In the future, everyone will be world-famous for 15 minutes." – Andy Warhol

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. I know when my daughter was diagnosed with Usher syndrome, I had never heard of it. No one in my family had ever heard of it. My friends, my co-workers, even family physicians, none of them had ever heard of Usher syndrome.

I had heard of Lou Gehrig’s disease, though. I even knew it separately from ALS only to find out later that they were one and the same. Do you know how many people have ALS? About 1/10th as many as have Usher syndrome. That’s right. ALS and Lou Gehrig’s disease are household names while Usher syndrome affects 10 times as many people and no one has ever heard of it.

A while back I wrote about dedicating fifteen minutes a day to the cause of Usher syndrome. I’ve written before about using your fifteen minutes to contact your governmental representatives and encourage them to promote funding Usher syndrome research. Remember the quote at the beginning of this post? Well, today I’m going to ask you to use your fifteen minutes of fame to promote Usher syndrome.

Just to prove my family puts its money where its mouth is, I give you my wife Julia. Next week she will be on the game show “Who Wants to Be a Millionaire?” The money she makes will go to the Decibels Foundation to help support, among other things, the Usher Syndrome Family Conference. And, as you will see if you watch, she makes sure to mention Usher syndrome specifically. She also mentions handbags, shoes, and pedicures, but that’s a point to discuss at a later time.

Figure 1: My wife (middle) in the hot seat of “Who Wants to Be a Millionaire?” with ‘Real Housewife’ Theresa (left) and Meredith Vieira (right). The show airs next week.

The important part of this story is why and how she came to be on this show. She watches the show afternoons when she is home and noticed that they were casting for a series of special episodes involving the reality TV show “The Real Housewives”. Now, the reason Julia watches the show, which airs mid-day here in Boston, is because she IS a real housewife. She’s also an educator, a fund raiser, an artist, a teacher, and a mom but she is, at least part of the time, a real honest to goodness housewife.

Now Julia is as frustrated as I am by the lack of knowledge about the mere existence of Usher syndrome. Here she saw an opportunity to have a national forum to talk about Usher syndrome, if only for a sentence or two. So she spent 15 minutes finding the web site and the form to apply. Then she spent 15 minutes filling out the form the next day. When she got an audition, I spent 15 minutes booking us a hotel in New York. The drive down to New York was longer, about six hours, and she spent close to an hour and half in the audition. Then there was the filming several weeks later, which took a whole day. But you can look at is fifteen minutes a day over an eight week period from web site to the end of filming.

The result is that next Tuesday, February 23rd, the thousands of people that watch “Who Wants to Be a Millionaire” will most likely hear, for the first time, of this disease called Usher syndrome.

That’s a good start. But we need more. I didn’t remember ALS just because I heard it once. I remember ALS because I heard a lot of people talk about it a lot of times, if only for a few seconds. We need to do the same thing for Usher syndrome. And by we, I mean you, gentle reader. We need a chorus of voices because not everyone watches “Who Wants to Be a Millionaire.”

OK, before you stop reading let me address the some big concerns everyone will have:

I don’t like the limelight: Many people in the Usher community are shy and I can sympathize. In spite of my loudmouth appearance, I prefer to avoid cameras and interviews. They just make me uncomfortable. But I do it and so can you. And if I know one thing about Usher folks, they may be shy but they are also very brave.  Just remember you’re not doing it for yourself, your doing it for everyone with Usher.

I’m boring: Bite your tongue! You are not boring. Just by having Usher syndrome you are a walking human interest story. I know a lot of people that travel the world or climb mountains or who are very good at a sport. We all do and most of them are not worthy of a news story. But add in Usher syndrome and suddenly it’s a human interest story. My daughter rides horses and occasionally wins trophies. Big deal. A lot of kids do. But my daughter also has Usher syndrome. She has balance problems and hearing problems and vision problems AND she rides horses and occasionally wins trophies. That is a puff piece if I’ve ever heard one.

Look, I know most of us are uncomfortable with self promotion. People with Usher are just that: people. We don’t think it’s a big deal that we or our family members do the things we do. But to the outside world you are amazing.

As a side note, nothing aggravates me more than pity. I’m very proud of my daughter and I believe that she can accomplish anything she wants to do. She rides horses and dances and sings in the chorus because she wants to do those things just like her friends. I don’t like that others think she shouldn’t be able to do it because of Usher syndrome. But the fact remains that when people learn she has Usher syndrome, they do think she shouldn’t be able to do all that she does. They find it interesting, amazing even, and that’s very good for the cause. So believe me, you are worthy of a news story whether you want to be or not. You are decidedly NOT boring.

I don’t know anyone in the media business: That’s OK, neither do I. Follow Julia’s lead and use the web. Every media outlet from CNN to your local town paper has a web site. Even our Podunk little town has a paper. Look who qualifies as front page news. Just about every web site has a Contact Us section. Start there. Sometimes it’s obvious who you should speak with, often it’s not. That’s OK. If it’s not obvious, pick someone. Tell them your story. You probably don’t need more than a sentence (For instance, “My daughter has balance problems and hearing problems and vision problems AND she rides horses and occasionally wins trophies” or “My wife is going to be a contestant on Who Wants to Be a Millionaire to raise money for kids with vision and hearing loss.”). They’ll either like it or they won’t. Don’t quit just because one paper or station said no thank you to one story idea. Keep trying. That reminds me of another concern…

I don’t like rejection: Neither do I. That’s why I’m not in sales. To many ‘no thank you’s. Sorry I don’t have a better answer on this one other than we need you to try. Just assume you are going to hear ‘no thank you’ a lot. It makes the ‘Wow! I’d love to!’ responses all the more sweet.

So spend fifteen minutes thinking about what about you or your family would make a good story and write up a sentence or two about it. Remember, you’re not boring. The mere fact that you pour your on milk on your cereal will seem like a big deal to the folks in the real world. Then spend fifteen minutes a day finding out who you should contact in the media about your story. You’ll then have to give up an hour or two to be interviewed, photographed, filmed or whatever.

Then enjoy your fifteen minutes of fame. Look for us in the audience. We’ll be the ones cheering you on.

Monday, February 15, 2010

How to be a science geek on YouTube, Part II

by Jennifer Phillips, Ph.D.

Well, I never imagined that it would fall to me to lighten things up around here, but after Mark’s last gravitas-laden entry, it hardly seems fair to whack you all with the big science stick two weeks in a row. So once again I turn to You Tube for a little frivolity.

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. I was probably the only kid in school who didn’t  doze off when the ‘Cosmos’ film started chattering through the projector. While my contemporaries drooled and passed notes in the darkened classroom, I sat captivated by his vision, and the clarity with which he expressed it to lowly viewers like me. He was one of the pioneer popularizers of science, and the enthusiastic, lucid way in which he made the universe—the universe!—accessible to anyone interested enough to tune in inspires me to this day.

However, I hasten to point out that this is not a video of Carl Sagan droning on about “Billyunz and Billyunz of Starrrzzzzz” (yeah, even I made fun of that one). It’s actually a compilation of a few memorable ‘Cosmos’ snippets blended with words from other leading lights in science communication like Neil DeGrasse Tyson, Bill Nye (the Science Guy) and Richard Feynman, all set to music through the process of Auto-Tuning. It’s cool. And it gives me chills every time I listen to it. Hope you like it.

Tuesday, February 9, 2010

Diet and Usher Syndrome

by Mark Dunning

I’m going to walk close to science content here and that’s dangerous. Jennifer is the one that deals in facts. I make it up as I go. She proofread this for me and I could hear her tsk-tsking from the other side of the country. It felt like I was back in college (cite your sources!) 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. However, that does not mean that we are without some ideas on how to improve and/or prolong vision through diet. So I’ll take some time today to discuss some of the dietary changes that some doctors and researchers believe might help slow the progression of Usher syndrome.

Did you catch that last sentence with words like ‘some’ and ‘might’ and ‘believe?’ Jennifer will discuss the science behind some of this in later posts, but none of it, repeat NONE of it is proven to prolong vision in people with Usher syndrome. That does not mean diet can’t help Usher syndrome patients, it just means it is not proven to help Usher syndrome patients. Take what you get here to your doctor and ask about it. Then decide what is best for you and your family. That reminds me, before I go any further, let me lay down some rules:

Check with a physician before changing your diet. In other words, I am not to be trusted. I am not a dietician. I am not a physician. As I have stated many times in the past, I am a well informed parent, nothing more. Even seemingly inert changes to diet can cause an individual great problems. The benefits for Usher syndrome patients of diet changes are still largely hypothetical, whereas the potential for compounding certain other medical problems by increasing intake of some vitamins is quite well documented.  Check with a doctor first.

Diet, not supplementation. What I’m discussing here is diet, not supplementation. I’m talking about eating foods high in a certain vitamin or nutrient, not taking the vitamin or nutrient as a supplement. This is an important distinction. It is much more difficult to eat a diet that might reach dangerous levels of a particular vitamin (imagine eating 3 cups of carrots in a meal, for instance). It is not so hard to do so when taking that vitamin in the form of a supplement.

A second concern around supplementation is that not all supplements come from the same source. Take DHA, for example. It can come from fish and it can come from plants. Some supplements are one or the other, some combine the two sources. If you are allergic to, say, fish, there is little chance you’ll eat a serving of it. It’s not as easy to be sure when it comes to supplements. A person who is allergic to fish (or nuts, or flaxseed, or, well, anything) should not take any supplement without checking with a physician first. Even if you have no known allergies, it’s still a good idea to talk to your doctor before taking any supplementation.

A balanced diet is important. Just because certain vitamins or nutrients might help with vision doesn’t mean they should be the only thing in your diet. First off, if you try to eat fish with every meal, you’ll tire of it quickly and stop eating it. But even if you could stomach it, fish does not contain all the nutrients and vitamins you need to function. Depriving your body of any nutrients will make you feel lousy and can cause severe medical conditions (remember scurvy from history class?) We’re not trying to save vision at the expense of quality of life. You can eat a balanced diet while still favoring foods that might help vision.

Figure 1: Me as a child. OK, it’s not really me but I’m sure my mother has a similar picture someplace.

So what foods are we talking about, specifically? Well, if you’re the average five year old, write a list of your least favorite foods. That’s the list. OK, so it’s not quite that bad, but it’s close. Here are some of the dietary changes that may help prolong vision in people with Usher.

Figure 2: Vitamin A Sources

Vitamin A
This is by far the most researched and most controversial dietary recommendation. A long-term study of vitamin A has shown enough promise as a treatment for retinitis pigmentosa that the National Eye Institute endorses it . Many physicians prescribe vitamin A palmatate (which is a vitamin supplement) to people with retinitis pigmentosa and those with Usher syndrome in particular.

There are two things that make vitamin A controversial for Usher syndrome patients which I’ve mentioned in the past. First, it can be toxic in high levels, primarily causing damage to the liver. Second, the long term study done on vitamin A was not done specifically on molecularly identified Usher syndrome patients. In other words, even though it is often prescribed for Usher syndrome patients and it seems to benefit all retinitis pigmentosa patients, we can not say for certain that it helps (or even that it does not harm) patients with Usher syndrome because they were not molecularly identified in the study. Follow up studies are under way specifically focusing on Usher syndrome and vitamin A, but to my knowledge they have not yet been published.

Given that most people treating retinitis pigmentosa with vitamin A take supplements, you really don’t need to eat a diet high in vitamin A as well. In fact, it can be dangerous to do so given that it is easier to reach toxicity levels, but let’s assume you checked with your doctor first and want to try to eat a diet high in vitamin A. What do you eat? Well, you eat orange and red things, mostly, like carrots, pumpkin, sweet potatoes, and beef (particularly liver). Turkey is also high in vitamin A as are dark green leafy vegetables like spinach. Oh, and be careful of eating too much liver. It is possible to reach toxic levels of vitamin A just by eating liver every day and polar bear liver is so high in vitamin A that one serving can be toxic (not that you’ll find polar bear liver on the shelf at your local Price Chopper). You can find more foods high in vitamin A here.

Figure 3: Salmon is a good source of DHA

Docosahexaenoic Acid (DHA)
Who’s up for a heaping helping of Docosahexaenoic Acid? Mmmm. Actually, it’s not that bad. DHA is an omega-3 fatty acid most common in fish. DHA as part of a diet appears to enhance the effects of vitamin A as a treatment for retinitis pigmentosa.  It is still not known if DHA in supplement form helps.  This study on DHA supplements (supplements, not diet) seems to indicate that they do not.
It is usually recommended that if you plan to maintain a diet high in vitamin A or if you are taking vitamin A palmatate, that you also maintain a diet high in DHA. What’s high? Well, a 3 oz serving of salmon, or about the size of a deck of cards, twice a week is considered about the right amount. That’s not so bad, unless you are seven years old and only willingly eat Happy Meals and processed chicken chunks shaped like dinosaurs. Oily fish is the most common source of DHA, but here’s a web site with a full list of sources.

Vitamin E
It is recommended that people trying to take advantage of the benefits of vitamin A avoid foods high in vitamin E. These are contraindicated, meaning you should not take vitamin E if you are taking vitamin A. But remember rule number 3 above: eat a balanced diet. You do want vitamin E in your diet.  You just want to stay more toward the minimal daily requirement than toward the maximum. Vitamin E is found in a lot of things, but people get it mostly from nuts (peanut butter is a big one for kids). Here’s a link with vitamin E sources.

Figure 4: Strong to the finish because he eats his lutein.

Lutein is believed to help the macula, particularly the macular pigment. The macular pigment protects the macula from the effects of blue light. As I’ve mentioned in the past, exposure to such light is suspected of increasing the rate of vision loss in people with Usher (hence the frequent prescription of sunglasses). So eating something that might limit the effects of light is a good thing. But, again, lutein is not a kid friendly food. It’s mostly found in green leafy vegetables like spinach, broccoli, kale, and turnips. Not exactly the stuff the Chuck E Cheese menu is made of. Corn is also on the list and eggs, and tomatoes, and peppers. Hey, make a pizza! Eat it with healthy oil, too, because lutein is fat-soluble.

Figure 5: Antioxidant rich foods

Other Antioxidants
Every substance I’ve discussed so far, except for DHA, is considered an antioxidant. Vitamin A, Vitamin E, and Lutein just happen to be those with the most documented benefits. Antioxidants in general are considered good for health. They are known to help prevent heart disease and reduce blood pressure. They are also believed to have a positive effect on vision although, as with everything else listed above, there are not studies clearly stating they improve the vision condition in Usher patients.

Antioxidant is actually an umbrella term for any substance that reduces damage due to oxygen. So this category is little redundant and broad, but that also makes it easier to find good foods that you and/or a child might actually want to eat. Things like berries, red grapes, and tomatoes are full of antioxidants. The rule of thumb is that bright foods have lots of antioxidants. That means naturally bright foods. We’re not talking about gummy bears and circus peanuts. Here’s a site with a list of foods high in antioxidants.

I’ll leave you with two things. First, remember that I am not to be trusted. Talk to your doctor before deciding to radically change your diet especially with things like vitamin A that can be toxic in high levels.

Second, eating food that is healthy for you in moderation is never a bad thing. It can especially help your mood when dealing with Usher syndrome. We all feel helpless at times in the face of this condition. It’s nice to think that you may be able to gain some control over the condition simply by eating the right foods. All the foods discussed above are good for you and a balanced diet that includes them will make you feel better. On that I can be trusted.

Try to remember that last part when you’re eating your sardines and spinach.