Common Cure for Rare Diseases: Knowledge

Today, February 28, is Rare Disease Day, an annual international event that aims to raise awareness about the thousands of under-the-radar diseases that significantly impact people's lives. My daughter is one of those people.



Our pediatrician admitted he'd never seen it before. For this odd rash on our 2-year-old daughter, he sent us to a dermatologist.



The second doctor wouldn't admit to anything. He rattled off the names of several conditions, none seemingly worthy of applying his bedside manner, prescribed antibiotics and showed us out.



The third doctor admitted she didn't know much. Tests on the chunk of skin she ripped from our daughter's knee showed just generic signs of an "allergic reaction."



The fourth doctor had just spotted the limp blonde cherub in my lap when she admitted she knew too much. She gathered a gaggle of med students and pointed out each telltale symptoms.



The facial rash resembling a butterfly's silhouette.



The purplish-pink spots and smears on her eyelids.



The reddish alligator-like skin puffing over her knuckles.



The increasing muscle weakness in her legs and upper body.



An assistant brought in some pages photocopied from a dusty textbook. She handed them to my wife, whose birthday it happened to be that day. That was my wife's gift that year -- a diagnosis for her little girl.



Our daughter has juvenile dermatomyositis, part of a family of rare autoimmune diseases that can have debilitating and even fatal consequences. That first year with this disease none of had ever heard of before consisted of intravenous infusions, staph infections, pulmonary treatments and worry. Surgeons implanted a feeding tube through her stomach wall because her throat muscles were too weak to swallow food and drink properly. They later added a port into her upper chest to give doctors and nurses easier access to her veins because the constant need to draw blood or give IV meds was otherwise too difficult on someone with tiny blood vessels. She temporarily lost her ability to walk. We would prop pillows against her so she wouldn't fall over while sitting on the couch while the medicine or nourishment dripped from a bag into her body.



That was almost 12 years ago. My daughter, now 14, remembers little of the pain and struggle and fear she went through, especially not when she's taking dance three times a week, or practicing her guitar or wrestling her little brother. The reminders are everywhere, though.



A twice-daily array of pills.



A monthly six-hour IV drip of a refined human blood product.



Quarterly trips halfway across the country to visit a specialist.



Yearly two-day infusions of a powerful med that destroys certain cells in her blood thought to rev up with disease.



Small scars from surgeries on her chest and belly; worse ones from the inflamed blood vessels that ate through the skin under her right arm.



And then there are things that cannot be seen, the invisible but indelible. The memories, the fears -- some spoken, some buried -- the long-term helplessness etched into me and my wife.



What would have happened if it took us more than two months and four doctors before we lucked into a diagnosis for our little girl? I don't want to know.



I do know that I'm glad that fourth doctor, the one who recognized this medical oddity, made sure her students studied my daughter so one day they might also be able to help other parents struggling to find an answer to the mysterious illness overtaking their precious child.



Juvenile dermatomyositis and its "root" disease juvenile myositis are among the 7,000 conditions classified as "rare" because each affects fewer than 200,000 people, according to the National Organization for Rare Diseases (NORD). However, when looked at as a whole, about 30 million people in the United States -- that's 1 in 10 Americans -- have one of these conditions. That's an abundance lot of rarity.



So for the millions out there struggling like we were 12 years ago to get a proper diagnosis, treatment or even just basic information on one of these many "rarities," please spare a few minutes to read up or spread the word about Rare Disease Day so others my possibility be spared the heartbreak of the unknown. As the NORD slogan says, "Alone we are rare. Together we are strong."



Written by Kevin McKeever; a version of this post ran on NYC Dads Group and his blog, Always Home and Uncool.



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Parenting a Child With 'Issues' and Feeling Judged

I saw a woman at the gym the other day whom I really wanted to avoid.



I used to see her a lot when my son Matthew, who has autism, was small. It seemed she was always there when he was bolting away from me at the grocery store, the swimming pool, the park. She watched me as I tackled Matthew before he wandered into the street, and while I tried to defuse a big bad meltdown. She was always sitting right behind us in church while Matthew flapped and tapped and giggled. Her pale blue eyes followed us everywhere and her frown was constant.



I wove my way around the exercise bikes and ducked behind the magazine rack to avoid the woman, and then ran smack into her in front of the drinking fountain. She was wearing that frown that I remembered well, and her eyes bored into me in such a way that I couldn't pretend to avert her gaze.



"You look familiar," she said, cocking her head. No kidding I look familiar. "Did our kids go to school together or something?"



"Maybe," I replied innocently, "I think we may have seen each other at the pool."



"Of course!" she said, smiling, her frown softening ever so slightly. "You had that adorable boy. I remember he had... issues."








I laughed self-consciously and explained that Matthew had autism and that some years had been more challenging than others. I told her that he was 27 now, living and working in this great community for people with disabilities near Santa Cruz called Camphill California.



"I'll never forget the day he climbed to the top of the batting cage during a Little League game," she said, shuddering, "he was teetering around and you climbed up like it was nothing and carried him down."



We burst out laughing and went on to talk about how her children were doing, the ones I never got to know because I was so sure their mother was evil. What a waste! Here was this really nice and compassionate woman who I assumed was judging me when in reality, she was just curious. And concerned. Even now, when she was laughing with me, she was frowning. She was a frowner, not a judger! And who knew why she was a frowner? She may have been coping with "issues" of her own.



As we parted ways, I thought about all of the other people over the years whom I had judged -- and avoided -- because I assumed they were judging me.



I thought back to the day I climbed to the top of the batting cage to retrieve Matthew. And to the day I ran into the surf in Carmel fully-clothed to pull him to safety. And to the day I sprinted down my street in red high heels and a black cocktail dress as Matthew rolled away precariously on a skateboard. We were stare-worthy in those days!



If you are the parent of a child with "issues," you know what I am talking about. It's not easy to be on stage during tense moments like these. Still, the next time you think someone is judging you, try taking a step back.



They might actually be admiring you.



This story appeared in Chicken Soup for the Soul: Raising Kids on the Spectrum: 101 Inspirational Stories for Parents of Children with Autism and Asperger's.



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How to Evolve Your Character for a More Meaningful, Successful Life

What determines your character?



You do. As do the people around you.



And, of course, genetics play a factor, too.



But according to Webby Award founder, mother and filmmaker Tiffany Shlain's new short cloud film The Science of Character, recent scientific research demonstrates that you can focus on developing certain key personality characteristics. Ultimately, this leads to a more meaningful, successful and happy life.







Psychologists have identified 24 core qualities that people around the world say contributes to a fulfilling life. These include gratitude, humility, curiosity, optimism, and love, among others.



As Tiffany says in the film, "Instead of focusing only on all the things that can go wrong with us, it's also important to celebrate all the things that can go right." As a Joy Champion, I couldn't agree more.



You're all invited to be part of the global film premiere on March 20, #CharacterDay. Screenings of "The Science of Character" will be accompanied by discussion tools, curriculum, and a global online conversation.



They already have over 200 schools and organizations from around the world on board to host screenings, from the San Francisco Children's Creativity Museum to King's College in London to a station in the South Pole! All of the resources are free, and they're even making customized versions of the film for the first 250 to join. It's super easy: sign up here, or introduce us to your child's teacher and we will take it from there.



Let it ripple!



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Being in the Moment When We Don't Like the Moment

I always giggle when I see the photograph that accompanies blogs or articles on "being present." The image, nine times out of 10, is of a person (usually a woman) sitting cross-legged on a beach, looking out at an ocean or other body of water, with the sun setting or rising in front of her. The implication is that this peaceful beautiful scene is what presence feels or looks like. The truth is, if life were a beach at sunset we might not have to work so hard at being present "in" it.



If what we were hearing was the lapping of the waves against the sand, we might want to listen to the sound of now. But what happens when what we are hearing is the siren of the ambulance directly behind us when there's nowhere to change lanes? If what we were smelling was the fresh salt air coming off the sea, we might want to breathe in what is here. But what happens when we are smelling the cleaning solution the gym attendant is spraying on the machine we are using, even though we are the only one in the place? If what we were feeling was the warm sand against our toes, we might want to dip into the present sensation. But what happens when what we are feeling is the cold wet slush soaking our pants as the bus wheels past? If what we were seeing were the pinks and blues of a glorious sunset, we might want to keep our eyes open to what's now. But what happens when what we are looking at is a homeless person hunkered down for the night under filthy blankets on an icy sidewalk? How can we be "in" the present moment when we don't "like" the present moment?



Life includes experiences we want and ones we don't. We are better at being present in the ones we want, and we need more practice staying in the moments we don't want. Many people ask me why we would even try and be present in the bad moments. Our assumption is that by agreeing to be present in what we call the bad moments, we are somehow agreeing to them, surrendering to them, and giving up all efforts to change them. We believe that, in order to keep things good in our life, we must brace against, ignore, and reject anything not good. This is an incorrect assumption with profound consequences.



Agreeing to be present in the hard moments is simply agreeing that what is happening is happening, and that we are in it. We accept that this is what we are living right now, whether we like it or not. We say, "Yes this is so and yes this is hard." This "Yes," this acceptance, is fundamentally different than, "Yes, we want this." When we accept what is so right now, we give up the fight against what is supposed to be, and the idea that what is happening should not be happening, and certainly not be happening to us. When we give ourselves permission to be "in" the moments that don't feel good -- which may even feel like hell -- ironically, we experience a kind of wholeness. There is a profound completeness, you could almost call it a joy, in being able to experience life fully, in all its presentations -- even the ones we despise.



Furthermore, as long as we are "checking out" on the moments that we don't like, we are an extra step away from being able to change them. It is counter-intuitive, but until we fully accept what is happening we cannot move on, we reject what is and as a result, what is gets stuck. When we settle into, and accept our starting place, we plant our feet in the place from which we can launch change. Scary though it may feel, agreeing to be here doesn't mean agreeing to be here forever, it just means agreeing to be here in this moment, right now. The fact is, whether we agree to being here, in "it," or not, "it" still is; our rejection or acceptance of "it" does nothing to "its" is-ness. When we are present in the hard moments, we are released from the primary cause of suffering, which is refusing to be where we are, rejecting our very life. Joined with the moment, we stop wasting our energy, futilely demanding that what is so not be so. When we enter where we are, pretty or not, we can at least stop bracing against our life, stop expending the effort that is required to keep us out of now. Once in the moment, inside our actual experience, we can begin the constructive work of creating change.



It is also important to remember that when we settle into the more challenging moments of life, we do not lose awareness of how we feel or the desire for change. We don't suddenly become unconscious. We still don't want it to be the way it is but that not wanting is simply included in the "what is," along with the wet slush and the ambulance siren. Our dislike of the moment is part of and not a contradiction to our presence. Being able to be in the moments we don't want is a challenge that requires different skills than being in the moments we want (which also takes skill). Experiencing what is, as it is, along with our dislike of it, forms a base of compassion for ourselves -- that we are living this hard moment and it is painful and we want it to be otherwise and it is what is so right now. All are true -- all at once. This self-compassion, of diving into the whole of what is, regardless of the difficulty that inspires it, is always healing and always carries the feel of a loving embrace.



Life presents all of us with the opportunity to be present "off the beach" -- on a small scale, when the skies open up and we have no umbrella; on the larger, as we sit with our parent dying in the hospital, or any one of the infinite human hardships we face. Life gives us endless chances to practice being "in" what is when what is is not what we want. To be able to be "in" the moment in all its forms is to experience the full depth and scope of our human existence. To embrace what is happening, how we feel about it, how we wish it weren't so, how we are going to try and change it and everything else, all at once, without having to reject any of it... this is what it means to be fully alive! Even when we are not at the beach, we are here, tasting life, and that in and of itself is the real gift!



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FDA Proposes Larger -- More Realistic -- Serving Sizes for Food Labels

The Food and Drug Administration (FDA) just released its proposal to update the Nutrition Facts label found on packaged foods and beverages. If approved, the new food label will update serving sizes. The label has not changed much in 20 years.



FDA is proposing to change the standard serving sizes to reflect what people actually eat. The FDA defines the current serving sizes as amounts of foods commonly consumed based on dietary intake surveys conducted in the 1970s and 1980s.



We eat larger portions than we did 20 years ago, so current serving sizes are smaller than what people actually eat. As I've written in my book The Portion Teller Plan and research articles, these serving sizes may be confusing to people trying to follow dietary advice.



The new serving size will, most likely, increase for most foods. By law, the standard serving size on a food label is supposed to reflect what people actually eat, not what they should eat. Therefore, the new serving size standards are not meant to be interpreted as recommendations for how much to eat.



With larger serving sizes on food labels, that would mean that a pint of ice cream that currently has four servings per pint (each serving is ½ cup), will have two servings for the new proposed label (each serving size will increase to 1 cup). The calories listed will, therefore, also increase. If a 1/2 cup serving of ice cream contains 200 calories, with the new 1 cup serving size, the label will now display 400 calories.



For the new label, the number of servings per package and the calories per serving will be more prominently displayed.



FDA is also proposing a makeover for single-serve foods and drinks. For example, a 20-ounce bottle of soda, which is typically consumed in one sitting by one person, would be labeled as one serving instead of 2.5 servings. After all, are you going to share your soda with 1.5 other people? Probably not. Other foods marketed for one person that often contain multiple servings per package include muffins, cookies, and small bags of chips.



What can we make of this?



For the good news, as I discussed on CBS Morning News, the serving sizes will be more realistic and reflect what people really eat. Many people today just glance at the calories and think that whatever amount they eat is a serving. For the ice cream example, a consumer reading food labels will now see 400 calories displayed instead of 200 calories.



This may mean that you would think twice before scarfing down the entire pint.



I also think it is excellent that FDA is finally addressing packaged foods and drinks marketed for one person but that have multiple servings listed on the package label. This may clear up some confusion regarding the calorie content of what we are actually eating.



A note of caution: FDA is not telling us to eat more. At least, the agency is not advising us to eat a bigger portion of ice cream. Rather, the agency is informing us as to the calorie and nutrient content in a standard serving size which is more in line with what we really do eat.



It would be useful if FDA follow up with nutrition education materials to further educate the public on the relationship between portion sizes, calories, and obesity.



FDA is accepting comments for 90 days.



We would love to hear your thoughts.



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Mindfulness in Everyday Life: Sitting in a Darkened Theater -- Movies and the Mind

Sitting in a darkened theater, no one can see my face. Cloaked and hidden, I am in a private world. My stomach clenches. Droplets of sweat sit on my lip. My heart is pounding. The hero of the film is emerging from a critical situation. I hold my breath. He prevails, our hero, but, in fundamental ways, is forever changed: He is wiser, more heartfelt, more real. The good guy wins.



From my seat in the audience, I am also changed. In the movie in which I star, called "My Life," I am the good guy too, and as the house lights fade up, I sense that I can emerge from my critical moments triumphant, like the hero.



I have played out this scenario in the viewing of so many films: The Wizard of Oz, Out of Africa, Terms of Endearment, When Harry Met Sally, The Help. Everyone has a list of movies that have changed their lives.



Robert Rayher, senior lecturer in screen arts and cultures at the University of Michigan, explains that the "raw experience" of sitting in front of the screen can illicit strong emotional reactions. "Great movies, like other great works of art, can change the world for us," he says. "Some filmmakers consider in great detail how they want the audience to feel about what is on screen -- others don't. But the purpose of 'story' is always to bring the audience into the world, the hopes and fears, the triumphs and defeats of the characters. Investment by the viewer is crucial to the ultimate payoff of the movie."



My first memory of such a film was Love Story, seen with my grandmother when I was just a teen. I remember leaving the theater that night, the slick sidewalk reflecting a fresh rain. Walking down the street, we tightly held each other's hand. All these years later, that single memory represents the jarring, crystallized moment of realization that my grandmother would eventually leave me, falling prey to the same unforgiving contract of mortality portrayed so vividly in the movie. Like Oliver and Jenny, played by actors Ryan O'Neal and Ali MacGraw, I saw that my grandmother and I would one day grapple with that same crushing truth.



Understanding through metaphor. Truth-seeking through story. Just as the bards of ancient Babylonia would visit towns to perform and educate through storytelling, modern-day film informs our self-awareness and deepens our connection to each other. What we learn at the movies helps us to mark our emotional coordinates and more clearly know where we are and, therefore, where we need to go.



From the first frames of film created by British inventor and photographer Eadweard Muybridge in his 1882 loco-motion study, called The Horse in Motion , to Thomas Edison's invention of the Kinetoscope in 1892, through the days of the nickelodeon and Cecil B. DeMille's silent film era, then, finally, to the introduction of "talkies" in the smash hit The Jazz Singer in October 1927, movies have woven their way into the fabric of American life. Hollywood, the industrial and spiritual center of movie making, rose out of the lust and desires through which theatergoers silently thirsted.



From late 19th century celluloid to the multi-layered, digital images of today, real life becomes a mere substitute for life glorified on the film reel. Movies give voice to political commentary, national dialogue, and pursue explorations of self-discovery. Norma Rae (1979) showed the exploitation of workers and the power of the union, Schindler's List (1993) portrayed the plight of Holocaust Jews, Fahrenheit 9/11 (2004) documented filmmaker Michael Moore's view of President Bush and the Iraq war, and this year's 12 Years a Slave portrays the horror of slavery and roots of discrimination in America's history. Movies model the best of times and the worst of times, providing a subtle, unconscious blueprint for how to understand ourselves and our world, engendering in us, perhaps, a more mindful and compassionate way of being.



While it is true that movies may inspire rage and violence in an already psychopathological individual, as evidenced by John Hinckley's naming Taxi Driver as inspiration for his assassination attempt on President Ronald Reagan, or mass shooter James Holmes citing The Dark Knight's Joker as his role model, movies, at the same time, have an intrinsic and unique power to heal.



Farmington Hills psychologist Dr. David Manchel has researched the experience of "emotional transformation through motion pictures" and says that there is great healing potential in what is called "cinema therapy" -- watching and discussing topics and characters in movies that impact us. "Often these stories reflected mythic themes, and these myths, in addition to entertaining people, often teach them how to deal with life's challenges," Manchel says. "Film viewers can learn valuable lessons on how to cope or work through problems when they identify with a movie character and see how he or she resolved an issue."



Almost everyone loves going to the movies, even though we many not know why. Movies can be comforting, movies can provide a much needed respite from the personal drama of our own lives, and movies are, for the most part, affordable. While many families are struggling financially, and may be unable to take a vacation, going to the movies together, for example, may prove a viable, meaningful alternative.



Movies can also provide a much-needed escape from the harsh world waiting outside the theater doors. "We may be able to see and accept something on the screen that we would tend to repress or disregard in ourselves," Manchel says, and so we are better able to face and come to terms with these aspects of our darker, shadow side. "There are no consequences when we enjoy watching a movie about a serial killer or some natural disaster where people die in horrible ways. We leave it all there in the cinema."



Going to the movies can be an inexpensive break for the family, a womb-like place to hide when life gets overwhelming, and it can capture and tell truths in ways that the mind more easily accepts and understands. Motion pictures play pivotal roles in political and societal movements, capturing the human moments that comprise a growing collective zeitgeist, teach lessons of historic import, and, as Manchel puts it, "remind us of the pure magic of being alive."



A version of this blog was originally published in Ambassador Magazine.



Follow Dr. Rockwell on Facebook, and Twitter @drdonnarockwell, and at her website: donnarockwell.com.



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More Reason Than Ever to Accelerate Alzheimer's Research

The search is on for cures to serious conditions such as cancer, heart disease, and neurological disorders. Treatments are critical for human health and for potentially cutting health care spending. But in areas such as Alzheimer's disease, which is projected to cost Medicare $189 billion in 2015, research progress is specifically thwarted by a lack of market incentives.



Currently 5 million people in the United States carry the diagnosis of Alzheimer's, and by 2050, 13.8 million Americans will have the disease. Some forms of Alzheimer's diseases stems from abnormal buildup of a normal chemical: clumps of beta-amyloid peptide (a type of protein) accumulate between cells in the brain and cause the brain to fail. This is often compared to the deposits of another normal chemical, cholesterol (a type of fat), that builds up in the walls of blood vessels, causing heart attacks that lead to heart failure.



With the assistance of new, breakthrough technology, we can now detect build-up of beta-amyloid clumps more than 20 years before Alzheimer's memory symptoms become evident, but, at present, there is no way to predict when or if clinical disease will develop. Nor is there any way to help people delay or prevent onset of symptoms in the way statins do for heart disease.



Recently, the hope that all forms of Alzheimer's disease begins with the buildup of amyloid has been shattered. About one-third of patients with clinically probable Alzheimer's have negative brain amyloid scans despite having obvious loss of brain substance and function on other types of brain scans. Experts are now proposing that Alzheimer's be divided into "amyloid-first" and "neurodegeneration-first" classes of disease.



Experts have long recognized that inflammation plays a role in Alzheimer's. This aspect of the disease has taken on new importance with the scrutiny of the genomes of nearly 75,000 Alzheimer's patients and with the application of computational methods to predict not only which molecules cause Alzheimer's but how those dysfunctional molecules are assembled into pathways. Our list of genes linked to common forms of Alzheimer's now numbers around two dozen. What is striking is how many inflammation genes are on the list. Taking the new imaging and genetic data into account, we must now set aside our simplistic notion that all Alzheimer's began with amyloid buildup. There are other ways for the pathology to begin even though we cannot yet tell at the bedside which pathway came first in any individual patient.



Any notion of conquering common forms of Alzheimer's within the foreseeable future is naïve. Recent estimates hold that the sequester has led to 25-30 percent reductions in the academic research workforce in just the past 5 years. Success is further stymied by the lengthy drug-testing process inherent in treating such slowly progressive diseases, and an unavoidable consequence of the long Alzheimer's drug-discovery process truncate the inventor's period of patent protection and market exclusivity, after which time, the drug faces generic competition. Companies and laboratories are pulling out of Alzheimer's because the odds are stacked against the chance that they will recoup their tremendous research investment. The newly recognized complexity of the disease is likely to hasten the exit of "big pharma" (i.e., the large pharmaceutical companies).



Setting aside for a moment the enormous emotional toll of Alzheimer's, the economics are potentially devastating to most countries where lifespan exceeds 80 years. Medicare spends $13,207 per year to care for a patient with Alzheimer's, and $4,454 per year to care for a similar patient who is not affected by the disease. If, by 2015, the onset of Alzheimer's were delayed by 5 years, this delay in disease onset would lead to a savings of $111 billion over 10 years. Without such a delay, Medicare spending for Alzheimer's will soar to over $1 trillion by 2050.



To lure companies and scientists back to Alzheimer's disease drug discovery research, we must rethink our regulatory protection policies. Thirty years ago, the Orphan Drug Act offered 12 years of market protection for the development of drugs that treat diseases that affect fewer than 200,000 Americans. The result was a 40-fold increase in FDA-approved orphan drugs.



More recently, the Biologics Price Competition and Innovation Act, tucked into the Affordable Care Act, granted biologics 12 years of market exclusivity, and already all major pharmaceutical companies and smaller biotech firms have large and growing biologic enterprises in many diseases, including Alzheimer's.



As of October, 2013, a decade has now passed since the fourth and most recent standard drug for Alzheimer's was approved, and none of the four slows disease progression. Alzheimer's typically begins with changes in memory, personality, or executive function, and eventually, all sentient brain function is destroyed. Patients die in what neurologists call a vegetative state.



An effective intervention to avoid or slow Alzheimer's progression would prevent incalculable human suffering and heartache, and save the nation billions of dollars in health care costs. Let's motivate medical research in this area by granting 12 years of market exclusivity. Until we do, generations of people will continue to watch helplessly as their loved ones leave them, one memory at a time.



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