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Carly Findlay, Big Ambitions, Strong Work Ethic…and a Loud Laugh!

Carly Findlay, a young Australian woman, affected by Erythroderma and Netherton syndrome, has endured the daily stares and insensitivity of strangers, for as along as she can remember. She has walked the unpaven path of rare disease and experienced a side of life that many people will never know –  and still yet, Carly greets each day with an open-armed optimism, and an enviable zest for life.

FIRST has been following Carly as she courageously and candidly shares her experiences, and her resonating words of wisdom. Her weekly blog takes us to the most unexpected places – switching the lights on and opening our eyes to not only a whole new side of the world, but a new side of life. Carly’s side of life: the bright side.

Today, we are delighted to have Carly Findlay share the secret of her optimism and her fool proof recipe for resilience:

I present with a red face, a sore body and scales that leave snowflakes on every surface – it’s ichthyosis – if you want to be really specific, it’s a diagnosis of erythroderma at birth and Netherton syndrome at age 10. I also present with a sunny disposition, a positive “this is just how it is” attitude, a zest for life, big ambitions and strong work ethic, and a loud laugh. I don’t so much notice the stares anymore – my friends and family do. I tell them “keep walking, don’t worry about the stares.”  And we do. The stares don’t stop me. I’m confident enough  to hold my head up high.

I get asked a lot about my level of positivity and resilience , despite my ichthyosis. Doctors, colleagues, other people with a wide range of disabilities, parents, audiences I write and speak for – they all ask. Some have told me they could not face the world if they were in my skin.

I think it comes down to being raised by very encouraging parents, and having a strong sense of self worth and acceptance of my ichthyosis. This is the life I’ve been given and I’m going to live it to the full. It’d be tiring to let the hard times get to me. I’d be lost without a full life. I believe happiness is a choice, and with happiness there’s hope. I’ve chosen to make the best of what may have been a difficult situation.

As a child, it was hard. I tell young people and parents of babies and young children with ichthyosis this. And then I tell them that it gets better.   I want to show people that life can be pretty good living with a visible difference.

I can have a big laugh at myself (and the funny situations when people ask me what happened to me). Living with ichthyosis is pretty funny. When I traveled to America, I had four members of the LAX bomb squad come to investigate my jar of prescribed paraffin because they thought it was a safety threat (despite a letter from my dermatologist and liaison with the airline prior to my trip). It was hard not to laugh!

I also have the following tips for staying positive, (as originally provided to FIRST member DeDe Fasciano and posted to her blog, http://ouryoungwarriorevan.blogspot.com):

- Try not to compare yourself with others (or parents, don’t compare your kids with other kids). Your progress is your own. You may look different but you’re perfectly you.

- Have a good relationship with your doctor. Hopefully you’ll be seeing a dermatologist. If you’re not, ask your general practitioner to refer you to one immediately. See them regularly. Listen to their advice, but also let them know you want a say in your treatment. You’ll know what feels best for you. As you grow up, you’ll get to know your skin pretty well.

- Try to stretch yourself as you mature. Get out there and have a go – play sports (though this is my least favorite thing!), join a group like cubs or girl guides, sing in a band. You’ll make heaps of friends and learn new skills. The best thing I did was get a part time job in a department store age 17. Working in a public role helped me become more confident, and it also forced me to answer questions about my skin in a calmer and more professional way. I made life long friends at this job. I wished I’d started working earlier.

- Find a support group. Your local hospital may run one. You may find one online. You need not even talk about your ichthyosis – you may want to just talk about your interests. Remember though, everyone’s experiences are different and what works for your friend in the support group may not work for you – check with your doctor before trying something new. And don’t let others’ issues with their illness bring you down. Surround yourself with positive people

[Carly Findlay lives in Australia. She is an award winning writer, documenting what it's like to live with ichthyosis and a visible difference. She sometimes speaks to a large audience, presents on community TV and does the odd radio show. She says the best part of having ichthyosis is that paraffin and constant skin renewal keeps her looking 23! Ichthyosis is better than any anti-ageing product.

Read Carly's blog at http://Carlyfindlay.blogspot.com]


Your Donations at Work…

 

Latest FIRST funded Research on Regenerative Medicine & Stem Cell Biology

As one might imagine, the most top-of-mind question FIRST is asked by nearly all those affected with ichthyosis is:  What type of research is FIRST currently funding?  And, in fact, one of the most rewarding and exciting parts of our jobs, is…providing the answer.

­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­Since 2006, Dr. Dennis Roop, an internationally recognized leader in skin disease research and his team at the Charles C. Gates Center for Regenerative Medicine and Stem Cell Biology at the University of Colorado, has been funded by FIRST research grants to continue their cutting-edge work in epidermolytic ichthyosis (formerly known as EHK).

 Traditionally, stem cell research has focused on cells that are isolated from embryos and have unlimited “pluripotentcy” (the potential to differentiate into any type of cell or tissue). However, the goal for Dr. Roop’s  project is to generate induced or “reprogrammed,” pluripotent stem (iPS) cells, from adult cells.

Dr. Roop is specifically working with adult cells of epidermolytic ichthyosis (EI) patients – essentially reprogramming, or “inducing” pluripotentcy, by introducing factors, into these cells, that are capable of removing all of the cell’s memory, stripping it of all genetic coding as an adult cell, and reverting that cell back to an embryonic-like state. The reprogramming procedure gives the adult cells nearly the same pluripotent capabilities as embryonic stem cells.  There are two advantages of working with iPS compared to adult cells: they can multiply for a more prolonged time than adult cells and gene correction strategies work more efficiently in iPS cells than in adult cells.

The long-term goal of Roop’s work is to create iPS cells from individual patients, correct the mutant gene they contain, differentiate the iPS cells into keratinocytes andthen graft the corrected keratinocytes back onto the patient–in hopes that  they will multiply and generate unaffected skin. The research is best described in the above video, taken September 2012, whereby the fascinating research of Dr. Roop and his team is explained to a family affected by EI, in the very clinic the research is being conducted.

What specific progress has been made?

To date, the defective K1 gene in one patient’s iPS cells has been corrected.   This was achieved by introducing a zinc finger nuclease and a piece of DNA that contains the normal version of the mutant K1 gene into the iPS cells.  The zinc finger nucleases are like molecular scissors that cut the K1 gene near the site of the mutation.   The cells own DNA repair machinery then replaces the cut, defective region of the K1 gene with the introduced normal region of the K1 gene.

Tests are currently being performed on the corrected iPS cells to make sure that they are genetically stable and contain no new mutations.  Once that has been confirmed, a special recipe of nutrients will be added to the corrected iPS cells to allow them to become keratinocyte stem cells, and those will then be grafted onto mice to see if they will form a normal epidermis.  Differentiating iPS cells into keratinocytes is routine in many labs and well-established in Roop’s lab.

More on Dr. Dennis Roop’s research regarding EI (epidermolytic ichthyosis).

 


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 

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

 

Woman with Harlequin Ichthyosis Delivers a Healthy Baby Boy

 

 

First known case of a woman affected with
Harlequin Ichthyosis Giving Birth

 

Turner,Stephanie-Will 5-26-2013-web-WMCOLMAR, PA (May 28, 2013) In Little Rock, Arkansas, 20-year-old Stephanie Turner, of Wynne, Arkansas, gave birth to William Curtis Drake Turner at Little Rock Hospital on May 25, 2013.  Little Will, as his parents will call him, weighed 7 pounds, 10 ounces and mother and son are said to be resting comfortably.

Stephanie, who is affected with the very rare skin disorder Harlequin ichthyosis, was not sure if she would be able to carry a child.  She and her husband Curt were thrilled last October when they realized they were expecting.  Stephanie was treated at a high-risk OB/GYN and her pregnancy was relatively normal.

Stephanie is a member of the Foundation for Ichthyosis & Related Skin Types, Inc.® (FIRST).  Founded in 1981, FIRST is the only foundation in the United States dedicated to helping those affected with all forms of ichthyosis.

There is no known cure for ichthyosis, only treatments,” said Jean Pickford, Executive Director of FIRST.  “This is a very exciting time in the ichthyosis community.  It offers hope that those affected with Harlequin ichthyosis can certainly lead happy and fulfilling lives.”

According to FIRST, each year, more than 16,000 babies are born with some form of ichthyosis, of those, approximately 300 are born with a moderate to severe form.  This disease affects people of all ages, races, and gender. The disease usually presents at birth, or within the first year, and continues to affect the patient throughout their lifetime.

Turner-Will-5-2013-WMAbout the Foundation for Ichthyosis & Related Skin Types, Inc.®
The Foundation for Ichthyosis & Related Skin Types, Inc.® (FIRST) is the only nonprofit foundation in the United States dedicated to families affected by the rare skin disorder ichthyosis.  Approximately 300 babies each year are born with a moderate to severe form of ichthyosis.  FIRST educates, inspires, and connects those touched by ichthyosis and related disorders through emotional support, information, advocacy, and has supported more than $1.4 million in research funding for better treatments and eventual cures.  For more information, call toll-free at 1.800.545.3286 or visit www.firstskinfoundation.org.

 

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