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Archive for June, 2013

Few and Far Between

 


“In the end what I learned is that the story was really not about our differences, it was about our shared connection.” – Meredith Rizzo

Every once in a while, “perfect timing” is more than just an eruption of coincidental moments…it is, in fact, destiny.  At least, that was the case when young photo journalist, Meredith Rizzo, set forth to create her final thesis for a Masters of Arts degree in New Media Photo Journalism from the Corcoran College of Art & Design.

“The assignment for our thesis was to submit a long form body of work,” said Rizzo when describing the very first steps of her journey. “Around that same time, I learned that there would be a FIRST family conference in Denver.  So, I decided to go to the conference and see if I could document someone, affected with ichthyosis.”

Meredith’s father, Dr. William Rizzo, a current member of  FIRST’s Medical & Scientific Advisory Board, is a geneticist specializing in inherited metabolic diseases at the University of Nebraska Medical Center.  He has been researching Sjögren-Larsson Syndrome for the past 25 years.  In fact, Dr. Rizzo is leading a Sjögren-Larsson Syndrome study to gather clinical information about its natural history and search for biomarkers (tests) that can be used to monitor future therapy.

As ichthyosis is one of the symptoms of Sjögren-Larsson Syndrome, the skin disorder itself was not unfamiliar to Rizzo, and in fact, she worked at the research lab with her father for an entire summer as an intern. But, now– as a curious and conscientious journalist– she was interested in hearing about the disorder, directly from the source. She hoped that one of the affected conference attendees would be open to sharing their routine, their challenges, and the bull’s eye of all inquiries: how the diagnosis of ichthyosis has changed their lives.

Chapell-Mia-web3“I met the Chappell’s on the very first day of the conference.  Their daughter Mia not only has ichthyosis, but she has Sjögren-Larsson Syndrome – the very same syndrome my dad has researched for all these years. So it was really great to meet someone whom my dad’s research really has really affected. The disease is so rare, that doesn’t really ever happen.”

As described in Rizzo’s essay:

Sjögren-Larsson Syndrome is a syndrome so rare its incidence is unknown, but doctors estimate around 100 people in the United States live with it. For Mia, neurological impairment associated with the syndrome means that she is still learning to walk, climb stairs, and hold herself upright. Her mental progress is two years behind that of other children her age, and she has ichthyosis: dry, scaly skin– a lifelong condition that will require a daily regimen of scrubbing and lotions.

Rizzo would soon discover that the syndrome itself, may have changed the daily routine and future plans for the Chappell’s and yes, they are learning to deal with the constant  boomerang of ups and downs, but in truth…

the disorder has really nothing to do with… their life.

Fate Takes its Next Cue…

“The Chappell’s were so open to the idea right from the beginning.”

And then fate stepped in again.  The young woman whose father, a gifted geneticist, researching one the rarest syndromes known to man, was being led to use her own gifts and raise awareness for that very same syndrome. “Coincidentally, they live only 45 minutes from me so I was able to really connect with them pretty often over the course of the next ten months.”

Rizzo spent time with Mia in nearly every aspect of her life; at her school, capturing the interaction with classmates; at one of her physical therapy appointments and on a few occasions she even quietly accompanied Mia during her morning and evening skin care regimen, with mom and dad. “Whatever she was doing or wherever they were going when I went to their home, they invited me to come along and document what was happening. I even tagged along on Halloween!”

One particularly painful milestone was the day Mia visited the Orthotic Prosthetic Center, in Fairfax, Virginia, for the very first time. “The photos from the day she went to the doctors and got fitted for her new leg braces really capture some of the medical challenges they are dealing with.”

The story behind the story was beginning to appear.  “It was remarkable how much of their lives they shared with me. But then I realized, I was giving them a chance to talk about their situation, because, so often, they are simply not asked.”

The Universal Lesson…of Love

Ten months later, she had gathered the pages of a story that had become not only a school project, but a mission.Chapell-Mia-web2

During the final stages, Rizzo reached out to a connection she had made at Corcoran. “A mentor of mine is actually the photo editor for National Geographic Magazine. She introduced me to their graphic designer, who helped to format the whole photo essay.”

Meredith’s desire to tell an untold story and  infuse it with “the energy of the subjects themselves,” was quickly manifesting into a uniquely personal piece of work, combining text, video and photos, and crafting an online photo essay, and e-book, that reflects not only the deep and profoundly human experience of the Chappell family, but of the journalist herself.

“I went into the experience thinking I would write about how the family deals with symptoms, liking itching or immobility. I would reveal how their lives were so different than everybody else. But in the end what I learned is the story was really not about our differences, it was about our shared connection. The story of their lives isn’t about Sjögren-Larsson Syndrome, it’s about a family’s love for their daughter…and that’s universal.”

To view Meredith Rizzo’s entire photo essay visit fewandfarbetween.net, or download the e-book: http://www.fewandfarbetween.net/the-ebook-download/
[photos by Meredith Rizzo]

 


Where Have All the Cowboys Gone?

 

FIRST Dallas Patient Support Forum ~~ June 8, 2013PSF-Dallas-2013-9

As Moe Wenik and I rode the trolley through the streets of Dallas, from downtown to West Village to Uptown and back, it was hard not to notice the presence of a fresh new city face. Construction sites lined nearly every sparkling-clean city street, and there was certainly no lack of upscale restaurants, trendy southwest terracotta capped condos – or hip, young-ish Texan professionals.

Dallas is, in fact, is a very pretty lady.

And although it was our very first visit to Dallas, neither of us felt very new-in-town – as the entire city had a sort of wide-eyed, first-timer feel.  However, something caught our attention just a bit more than the freshly fashionable ambience – yet…oddly enough…it was not a presence, but an absence.

“Where are the cowboys? The belt buckles? The fanciful, spurred leather boots?”, I asked repeatedly throughout the evening.  Well it appears that my vision of Dallas has taken up residence on the pages of historic American cliché, alongside its iconic cliffhanger, “Who shot JR?”  I returned to the hotel, having gobbled down the best turkey burger in town (Village Burger), knowing the history of the 100 year old Dallas trolley car, and with a slight twinge of disappointment about the cowboys, or lack thereof.

The next morning, however, I would attend my very first FIRST Patient Support Forum – and soon any twinge of disappointment about our trip to Dallas, would be wiped from my mind.  It was not only a day free from the inkling of “absence,” but a day full of everything I have come to admire and appreciate about FIRST: education, inspiration, and connection.  There would be no lack of patient support, peer-to-peer story sharing, medical advice and updates from the top practitioners in the field of dermatology, and …drum roll…hi-tech communications.

Anticipation filled the room as our esteemed panel of speakers including PSF-Dallas-2013-10Dr. Moise Levy, Dr. Meena Julapalli, Dr. Fred Ghali, and Dr. Keith Choate (via webex), took center-stage and offered a riveting summary of the latest genetic research and skin care therapies, plus upcoming projects and events for the entire ichthyosis community.

If you were unable to attend, below is a brief summary of some of the highlights extracted from the days discussion.

Old School Therapy is Still the Best Option:PSF-Dallas-2013-3

  Overall, the consensus amongst doctors and attendees was that skin care is very individual – you need to do some trial and error to see what works for you and your particular skin condition. However, many of the general tips did not require a hefty investment, or any particularly complicated regimen.

 Tips included:

  • Keeping a journal of “solutions” will help to establish a beneficial and permanent routine.
  • Bleach – Some participants agreed that a simple bleach bath is effective for some types of ichthyosis, as a skin softener and for bacteria and odor control.  Although the precise measurement of the mixture varies from person to person, it is recommended to use approx. 1 to 2 teaspoons per gallon of water.PSF-Dallas-2013-4
  • P & S Liquid by Baker Cummins Dermatologics – This simple and inexpensive ointment is highly recommended for loosening and removing scalp scale.
  • Virgin coconut oil is natural moisturizer and disinfectant and highly recommended by some of the attendees (cost effective too!).
  • Pedi Wands can be found in most beauty supply stores and can be great for getting to those hard to reach areas! (Pedi-wand is a pedicure wand).
  • Switching from lotion in summer to ointment in winter can be an effective way to keep skin moist, smooth.
  • Frogtog – In addition to cooling vests, this product is recommended as an easy-to-use neck wrap and great for beating the heat. (available at Walmart)
  • True Blue Morracon Oil from Bath & Body Works – Recommended by a few female members as both a sunscreen and a lotion, with a light feminine fragrance.
  • SPF 15 offers 94% of UVA protection; SPF 30 offer 97% protection, however, sunscreen brand is really an individual choice.  Fragrance, consistency, price point etc., are truthfully the deciding factors.  (FYI – there is also a significant price difference in “children’s sunscreen”, but it is, in fact, the same ingredients.)
  • Salt vs. Chlorine – If you are prone to infection, chlorine pools may be helpful However, for dryness, salt water pools have been reported to help as well.  Once again, trial and error will be your best way to assess the best treatment for your condition.

New School Studies are Presenting Fascinating Results…

PSF-Dallas-2013-5Dr. Moise Levy began his presentation by mentioning the importance of client contact and how conversation and listening is “just as important for healing as anything else.”  Subsequently he felt that the FIRST Patient Forums provided just that: an opportunity for one-to-one interaction.  His remaining presentation was abundant with an overview of current therapies for ichthyosis. Some highlights included:

  • Personalized Treatments – Although they are years away from being available, personalized therapy, also referred to as “boutique therapy,” are on the forefront of therapeutic research for dermatologic disorders.
  • An Overview of Current Therapies & Cost Analysis of Treatments.

(Dr. Levy’s full presentation will be available on the FIRST’s website in upcoming weeks. Stay tuned for announcement.)

Dr.  Keith Choate presented his work via Webex with a live face-time feature Dr. Choate gave a robust and fascinating presentation on the New Frontiers in Discovery – Genetic Approaches to Human Disease.

PSF-Dallas-2013-6Some of the highlights included:

  • Explanation of heritable traits, the DNA genetic code, and how mutations arise
  • Progress in Understanding Genetic Disease
  • Overview of Human Genome Sequencing
  • How advances in technology have led to progress in Genetic Research

Dr. Choate is also currently conducting genetic research at Yale University.  The goal of his study is to understand how genetic mutations cause ichthyosis by obtaining genetic diagnoses for those affected with ichthyosis and comparing genetic data with clinical information. 

“Knowing your mutation will enable you to participate in further research projects on your specific genetic subtype of ichthyosis, and may ultimately be relevant to what treatments will work best for you,” said Choate.

Abundance of New & Old Opportunities for Family Support and Self-esteem building…

PSF-Dallas-2013-7Dr. Meena Julapalli, spoke of her and Dr. Ghali’s involvement and passion for many of the summer camps established for children and families affected with ichthyosis. Camps for children include: Camp Discovery, Camp Brave Skin, and the newly formed weekend camp for families, RoundUp River Ranch.   It was Dr. Julapalli’s perspective that camps are the ideal opportunity for children with ichthyosis to meet and spend quality time together. “It is a chance for the children to thrive and be themselves; a place where they don’t have to be self-conscious”, said Julapalli. 

As she shared some very heartfelt letters written by the children who had attended the camps, one particular phrase jumped from screen, engaging the audience and embodying Julapalli’s very own brand of enthusiasm for these types of opportunities:  “Mom, this camp changed my life!” For more on Camp Discovery, Camp Brave Skin, and RoundUp River Ranch contact mwenik@firststkinfoundation.org.

PSF-Dallas-2013-8As the day wound down, and Moureen and I were getting ready to head to the airport, we began to share our thoughts on the meeting, the day, and the entire trip to Dallas. Had it gone as planned?  How might we improve?  What will we always remember?  

A slight and soft spoken young mother from Dallas came over to us. It was no coincidence that we were both deeply moved by the conversation. Although she had the most charming of Irish brogues, she was the type of person who looked kind-hearted, without even speaking a word – and who looked liked the past nine months, her induction into motherhood, and her first year of raising a child with epidermolytic ichthyosis (EI), had been a true test of strength.

It had been the family’s first event sponsored by FIRST – and the decision to attend had initially been accompanied by some reservations. “My husband didn’t know if it would help. But he’s really glad we came. He’s excited and really thinks we should get more involved now.” She hugged us both goodbye, and before walking away was sure to say, “You are doing great work. Thank you both so much.”

Our conversation returned to the young Irish couple throughout our trip home. “Yes, this is what it’s all about. We did our jobs today,” Moe said.

Then, just as I’d nestled into my corner seat at the boarding gate, it happened. In fact it happened so fast, I can barely even claim it as an actual experience. “Don’t worry, I took a picture,” Moe said, noticing the frantic frenzy of napkins and straws and paper bags falling from my lap.

After a good laugh and moment of getting situated again, I ripped the paper from my straw.  “You’re right, this is what it’s all about.” And there I sat, feeling even more inspired by the value and mission of FIRST; more privileged to be a part of this incredible journey and looking forward to next group of families and doctors I may meet.

And…all the while…gazing at Moe’s iPhone, which of course framed the photo of   …  a cowboy.

[For more on Dallas conference visit Confetti Skin, The Beauty Within - where member Rachel See offers valuable insight from an attendee's perspective.]

 

Bathing Completes the Shedding Process…naturally.

It’s true! Bathing may be even more important to the shedding process, than previously considered, as it does not only cleanse our skin of dirt and other external debris, it completes the natural process of desquamation, sweeping away spent and finished epidermal cells.

What exactly is desquamation?
The epidermis is a self-renewing system. Old cells (or ‘squames’) are shed from the skin surface as new cells (‘keratinocytes’) are produced, in the underlying epidermis, and pushed outward into the stratum corneum (the outer most layer of the epidermis) to become ‘corneocytes’. This process is known as desquamation.

In the recent past, it was thought that the process of desquamation initiated the progressive breakdown (‘proteolysis’) of proteins forming structures, called ‘corneodesmosomes’. These protein forming structures link adjacent ‘corneocytes’ to one another.  We know know this prior model does not fully account for desquamation, because the cells detach well above the sites where these junctions are degraded. In other words, proteolysis of corneodesmosomes may be necessary for desquamation, but it is not sufficient to complete the entire shedding process.

Instead, recent studies show that cells detach following hydration.  Water swells the extracellular spaces and separates adjacent corneocytes. As the water evaporates from between corneocytes, it is replaced by air, which eventually allows individual cells to detach from the skin surface.

What does this mean for the ichthyosis community?
There’s no question – for those affected by ichthyosis, frequent bathing is now even more important, as it is not only the best way, but the most natural way to remove dry scales and skin – and, most importantly, more frequent bathing can ease the distress of ichthyosis, making day to day life much more comfortable.

Resource: Peter M. Elias, MD. http://eliasandwilliams.com/what-allows-skin-to-shed/

For more information on the permeability barrier, the most critical, life-enabling function of skin, visit the FIRST page on the  Inside Out of Skin a groundbreaking website developed by Peter M. Elias, MD, and Mary L. Williams, MD.

 

Research on “Gene Therapy Topical Ointment” Continues

Recent groundbreaking siRNA research, led by Northwestern University’s Chair of Dermatology,  Dr. Amy Paller, has inspired new hope for silencing  the underlying mutation of EI (epidermolytic ichthyosis) and its changes to the skin surface.Medical Stock-125943563-web

So what exactly is siRNA?
siRNAs are small interfering RNAs (sometimes called silencing RNAs) that “interrupt” the expression of a specific gene. They can recognize even the tiniest genetic change specifically, and thus can distinguish a normal gene from an abnormal gene. As one might imagine, their discovery has caused a surge in biomedical research and drug development for a variety of diseases.  Now, that surge has crossed paths with EI.

How can siRNA effect EI?
The blistering and thickening of skin seen in EI patients usually results from a change in a single letter of the DNA code (a mutation) that provides the codes for manufacturing keratin protein in the upper layers of skin. This single letter change leads to a protein product (a keratin) which is produced but does not function normally. In a dominant disease, both a normal and an abnormal gene and mRNA exist.  However, siRNAs can identify the abnormal strands of messenger RNA (the intermediary between the mutant gene and the abnormal protein), bind to them, and prevent the altered gene from being translated into protein.  Until now, the problem with siRNA has been getting it through the skin barrier, the outermost layer of the epidermis, and into the cells making the bad protein.

Paller, Amy-2012-WEBEnter:  Dr. Amy Paller, her extraordinary medical research team, and the fascinating field of nanotechnology*.  
Dr. Paller and her team have discovered that siRNA, attached to a “central 13nm gold nanoparticle”  can be rubbed into the skin in a simple topical ointment!  In 2012, her research was rewarded a $75,000 grant, by the 2012 FIRST Research Grant Program.  As of late, “We’ve developed 3-dimensional models of EI skin in culture and have also grafted EI skin to mouse models.  We have found some siRNAs that prevent the gene from being expressed, but are testing them to find the best one that affects the abnormal, but not the normal gene,” said Paller.    Read the full article here.

How will members of FIRST benefit from this research?
This type of non-viral, topically applied gene therapy holds promise for individuals with EI, as well as other dominantly inherited ichthyotic condition.  If such drugs can be delivered by topical applicaoitn, that would be a great advance.  FIRST is committed to providing the latest progress of this research, as well all related news and information.  Please visit our site as frequently as possible for the most recent updates. We also invite you to join our email list at:  www.firstskinfoundation.org.

*Nanotecnology.def: n. a technology executed on the scale of less than 100 nanometers, the goal of which is to control individual atoms and molecules, especially to create computer chips and other microscopic devices.  http://www.scientificamerican.com/topic.cfm?id=nanotechnology 

Raising Awareness for Rare Disease… One Cape at a Time

 

If you search the Internet for the origin of the “superhero cape,” as I just did, you might find yourself lost in a cyber-sea of Superman quotes, Twilight-tween tweets, and an oddly expansive selection of Zorro fan pages and Batman vs. Green Lantern public debates. I suppose now I am well equipped with unique and witty cocktail party conversation – particularly on Halloween – but more importantly, I am also certain that the superhero cape, regardless of its origin – has grown into a universally iconic symbol, summed up in single word: adventure.

For Robyn Rosenberger, founder of “Tiny Superheroes”, life, lately, has been nothing less. I had the great pleasure of speaking with this unlikely seamstress, who is quickly becoming an icon in her own right.

“I am not a seamstress by any stretch,” Robyn said when describing her epiphanic moment. “During the summer of 2012, I made three capes. One for my son, my nephew and my dog – just out of the blue, just for fun, and they loved it.”  That same summer she had also been following the blog, Blessed by Brenna – a weekly chronicle, authored by a young mother who happened to be an old schoolmate of Robyn’s husband – and who had also just given birth to a baby affected with Harlequin ichthyosis.

Then, one day while perusing the Blessed by Brenna blog, it happened — the “Aha” moment that would change Robyn’s life….

“Brenna needs a superhero cape because she is truly extraordinary!” Robyn thought as she rolled up her sleeves and began to assemble the fourth little cape she had ever sewn in her life.

However, when the story of Brenna’s cape broke in the blogosphere on both Robyn and Brenna’s blogs, it was as if the whole world was watching.  Unbeknownst to Robyn, when she had sewn that last little stitch on Brenna’s little cape, she had also begun the thread of something truly extraordinary herself – an organization that would empower children affected by rare disease all over the world.

“We decided to set up a page on our blog where we could take nominations for the next Tiny Superhero to receive a cape.” Her blog, Tiny Superheroes, now receives nearly 20 nominees a day, from a vast range of rare genetic disease communities, the world over.

“We seem to have a lot of interest from the ichthyosis community. It has been so wonderful getting to know these kids. And what’s been really amazing is that the children are all so different, so special in their own way.”

Tiny Superheroes has  been featured on Today.com, Fox News, Evening Magazine and the Huffington Post. But the most surprising fact?  The entire organization officially opened its doors just four months ago, in January of 2013.  “Now we’re even getting messages from people all over the world who’d like to volunteer and help us sew capes.  I’m trying to figure it all out as it comes – it’s really incredible how quickly it’s grown – but it seems to be all working so far.”

The second most surprising fact? In those mere four months, Robyn, and a small army of volunteers, have sewn nearly 500 capes – (although Robyn alone sewed 300 of them!)

Admittedly, this was not a lifelong dream of Robyn’s, as she had no experience, nor grandiose vision of one day helping to raise awareness for rare diseases. “It’s like the kids chose me, and it’s taken on a life of its own. I feel so privileged and I couldn’t be happier about where everything is going.”

By all accounts, the kids chose well.

However, Robyn now knows that she may not have been chosen to simply sew hundreds and hundreds of tiny capes.  “What I realized is that this work can help kids raise awareness for their own disease – which is really powerful. It’s much more than giving them a cape. It’s letting these kids know they can change the world. And I believe they can.”

And there you have it – no searching, nor super power, necessary.  Sometimes a hero really does just…come along.

For more on volunteering, donating, or nominating a Tiny Superhero go to www.Tinysuperheroes.com.

Learn more about how Robyn is empowering Tiny Superheroes on the video below.

Tiny Superheroes Video Screenshot-2013