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Posts tagged ‘itchy skin’

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.

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]


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