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Should Grandparents & Extended Family Attend the FIRST National Family Conference?

 

 

At some point in their journey with ichthyosis, individuals and parents with affected children will need assistance, both physically and emotionally, from someone other than their medical practitioner. In difficult times, a reprieve from the day-to-day, a shoulder to lean on, or simply a trustworthy listener, can truly be a life-saver. More often than not, this type of support comes from extended family.  And although it can be stressful, turning to family in these types of situations may not only be therapeutic, but can create unbreakable bonds for parents, grandparents, and siblings.

Perhaps you are the grandparent, aunt, uncle, or sibling of an individual affected with ichthyosis, and are contemplating whether or not to attend the upcoming FIRST National Family Conference?  Over the years we have met countless individuals who were contemplating this very same decision, many of whom ultimately decided it was best to attend the conference, not knowing really what to expect, or if they would gain any benefit at all. Cina,Sean-Portia-Jolie-Mary-Dave2

Mary and David Cina, grandparents of  Myles and Portia Cina, affected with ichthyosis en confetti said, “We attended and will continue to attend FIRST conferences to support our son, daughter-in-law, and grandchildren.  We have learned a lot and enjoyed meeting other families, learning their challenges, and how they have dealt with them.  The doctors provide a wealth of knowledge and are very approachable, willing to help and teach all attendees.” (The Cina Family pictured left)

 

Chrissy See, a sibling of member Rachel See, also affected with en confetti ichthyosis, is not only attending the conference in Indiana this year, but has played a pivotal role in helping to gather items for the conference fundraising raffle. “My family has always been a huge inspiration, and recently my friends, respected colleagues, and even “strangers” have become my new source of inspiration for my involvement with FIRST. In fact sharing on our company community webpage to 200 work friends created generous donations and support. I am looking forward to attending the FIRST National Conference because it will also be a special opportunity for me to learn and grow from others. Awareness is the first step to curing ichthyosis and I am inspired by others to take that next step for my family.” (Chrissy See pictured right).

And Kellie Wilson, sister of Shannon Hamill, and aunt of Lauren Hamill affected with harlequin ichthyosis, has been by her family’s side siKellie Wilson, Shannon Hamill, Kelly Klafternce day one. “ My niece Lauren was born with harlequin ichthyosis. Two words no one in my family had ever heard before. Now the word ichthyosis has become familiar to me and my family and it is not as scary anymore, thanks to the FIRST Family Conferences.  It was comforting knowing that they were not alone and that there was a whole community out there for them to learn from and to share their stories with. The first time in Chicago I was there as more of a supportive role. I wanted my sister and her husband to attend as many discussions as possible without having to worry about Lauren. However, this will be my third conference and I am looking forward to seeing everyone again. ”

 Although there are numerous opportunities for networking and education at the family conference, in the end, it seems that sometimes simply “being there” for a family member may just be the most meaningful kind of support you can give. (Kellie Wilson, Shannon Hamill, Kelly Klafter pictured left).

 

 More Conference Information.

 

 

 

 

Dermatologist Discusses Integrative Approaches to Skin Care, at the National Family Conference.

 

Some of the most popular “eastern” wellness practices have made a permanent impression on the western physical fitness scene, including the practices of Meditation, Yoga, and a nutrient-dense, Plant-Based Diet.

shutterstock_137890049Meditation has been associated with increased focus, and tension relief, while Yoga is widely recognized as a practice for building muscle, increased joint flexibility, and a way to relax the overactive mind.  (Read how one FIRST member, uses Yoga to improve core strength and flexibility, reduce body aches and pains, and lower mental stress).  An exciting, energized and in-depth look at the benefits of these “integrative medicine” practices will be presented at the National Family Conference during the breakout session: Stressed Out? Natural approach for wellness, balance, and healthy living.  This session will be led by Vindhya Lakshmi, Dermatology Resident at Indiana University. Vindhya will discuss how making a few small lifestyle choices, can produce BIG results. Her session will include:

  • Intro to Yoga: How yoga can help reenergize and strengthen your mind, body and spirit
  • Meditation 101: Learn quick and easy breathing techniques to re-center and recharge
  • Fruits, Veggies, and Smoothies OH MY -Yes you can make healthy changes today! 
  • How to Break the Routine and create healthy, long-lasting habits.

 About Our Workshop Leader:
Vindhya is a driven, energetic & proactive Dermatology Resident at Indiana University with a strong and continually expanding passion for overall integrative & holistic wellness. Her future practice will focus around integrative approaches to improve skin care, utilizing both eastern and western techniques. She also advocates a plant-based lifestyle, and is dedicated to empower others to live more fulfilling, proactive lives.

 

 

 

HOW RUDE!

 

National Family Conference Tackles Rudeness Head On

 How Rude, Can You Believe They Said That?”- This breakout session at The National Family Conference will offer all the tips and tactics you’ll need for dealing with unwanted stares, comments, or flat out rude behavior. The session will be led by Eric Scott, a pediatric psychologist from the Riley Child and Adolescent Psychiatry Clinic at Indiana University. Eric has extensive experience working with individuals and their families in adjusting to and coping with chronic medical illness. His work frequently encompasses repairing the effects of bullying and teasing that those with chronic illness face. The session will cover specific ways to respond to instigators; how to emotionally cope with being teased and how to build resiliency in the face of distress and adversity.

 Why Talk About Rudeness?

Over the years countless members have expressed feelings of frustration and isolation, brought about by the emotional roller coaster of dealing with rude comments, bullying, and offensive behavior. And although it is natural to take a defensive posture, and for upsetting emotions to arise, there are also many productive steps that can be taken toward a peaceful resolution. Some of the most widely used practices include:

 Educate Them – Sometimes explaining you or your child’s skin condition is the best way to handle all the questions, stares, and negativity. FIRST can provide you with convenient awareness cards briefly explaining the genetic condition of ichthyosis and that it is not contagious.  These cards can be very useful for public activities, such as dining out or traveling. You can also distribute to someone who has made an offensive or rude comment or simply give to friends, family, or your community.

 Build Your Inner Confidence – Participating in activities that make you, or your child, feel confident and accepted will build resilience toward rudeness. Turning to games, physical activities, hobbies, personal interests – anything you enjoy – is not only enjoyable but can support an emotionally strong outlook in tough situations. Knowing that you have unique skills, strengths, and interests, and sharing those interests with others, will ensure that you are perceived as the multi-dimensional person that you are, and not solely defined by your skin disorder. There will always be people who try and put others down. Self–esteem is the best defense.

 Patience is KeyAs difficult as it may be to accept, sometimes people are just afraid of the unknown. It may take a little while for the whole community to become informed of the disorder, and the special circumstances it may present. Once they have a chance to get to know you or your child – beneath the surface – you will feel more and more comfortable just being yourself, and less concerned with what others may do or say.

We’ll take an even deeper look at this issue during the conference, and provide ample opportunity for members  to ask questions, make suggestions, share stories, and walk away well-equipped for dealing with rude behavior. You will also find our newly expanded Bullying and Rude Behavior Resource Sheet on our website, chock full of ways for you or your child to resolve the uncomfortable situation of “dealing with rude behavior,” as well as suggested reading and links to related resources.

Full Conference Program

 

Do what you love and your skin will follow.

As many of you affected with ichthyosis already know, at times, this condition can present enormous challenges. And yet, as many of you also know there are still other times when ichthyosis is simply a background hum to the music of life.  Member Brian Gass, affected with CIE, is living, walking, and hiking proof that although his ichthyosis is a part of his life’s journey, it follows his lead, trailing far behind his pursuit of passions, dreams, and interests.

Recently Brian contacted us to let us know he’d be doing a little traveling this summer. Well, actually a lot of traveling – 2,650 miles up the spine of the Sierras from Mexico to Canada, to be exact. Although he is an avid hiker, racking up “over a thousand trail miles on three continents,” this journey will prove to be a journey of his lifetime. And for the benefit of others affected by ichthyosis who share in his love of the outdoors, periodically throughout the summer he will be reporting back to FIRST and on his blog:   (http://hikeonthegoodfoot.blogspot.com/).  Not only will Brian be sharing an up-close view of the most breathtaking terrain, but he will be sharing everything he learns and experiences about the care and safety of his skin along the way.

We are happy to share Brian’s mission and his message: do what you love first and your skin will follow. 

Here is a personal note from Brian with more information regarding the details of his upcoming adventure.

Conference, Connections & Life Changing Moments


There is no greater way to express the life changing moments that occur for members at our Family Conference, than to invite you into one of those very moments. Board member and FIRST advocate Tracie Pretak has had gained enormous benefit from attending the conference, but there is one special moment she’d like to share, that stands out a bit more than the rest.

Not sure if you should attend the conference? Consider this:Twenty-six years ago, I had a two-year old daughter with Lamellar Ichthyosis (LI) and we attended our first FIRST conference and our lives would never be the same. Meeting others who understood, who’d gone through what we were going through, and grew up to be successful and happy was overwhelming!

One man I met, Jim, totally changed my thoughts on how to raise Bailey. You see, Jim, who also has LI, told me that he ran cross-country in high school. That blew my mind…because with LI, Jim can quickly overheat.  He said his parents let him try it and found a safe way for him to do it (people would stand along the route and throw buckets of water on him!). He said they tried to give him as normal a life as possible. And so…I did that with Bailey. And when she wanted to dance, on a hot stage under hot lights, I thought of Jim…and I said yes! We took precautions and trained the dance teacher and stage crew on how to prevent and treat heat stroke.

Bailey not only excelled at dancing, she continues to grace the stage at our annual recital. Plus she now is teaching a new generation of little dancers. I’m not sure any of this would have happened, if we hadn’t met Jim.

Fast forward to last year’s conference. We had not been to one in awhile, but decided to go and encourage other families, kids, and teens affected with ichthyosis. On the first day, we walked into the meeting room and who did we see? Jim! Unbelievable! We hadn’t seen him in 24 years! It was so amazing for Bailey to meet the man that “let her dance!” I felt like everything came full circle in that moment.

We were there to offer to others what he gave to us…HOPE. We learned that Jim has actually run a marathon! What an inspiration! It was so amazing to watch Bailey throughout the conference that weekend. I have never seen her so self-assured, so confident. It was worth every penny spent to see her smile; to see her be so open; to see her inspiring the kids and teens and parents and grandparents!   It was such an amazing weekend of connecting that I don’t think we will ever miss another one.

Come to Indiana…we want to meet YOU!!! – Tracie

A Letter from Our Director: Dear Members, PeDRA Gets It.

Amidst a growing sea of scientific work focused on skin disorders in adults, there is only a limited amount focused on children. In 2012, a group of pediatric dermatologists founded PeDRA, the Pediatric Dermatology Research Alliance, in hopes to better treat and cure dermatologic diseases in infants, children and adolescents. Their mission is to foster collaborative clinical, translational, and basic science research.photo(1) This past weekend, Executive Director Jean Pickford, attended the very first annual PeDRA (Pediatric Dermatology Research Alliance) conference, and is happy to report that there is “no stopping” this dedicated team of doctors, when it comes to finding a cure for ichthyosis. Today, she’d like to share her experience with those whom this remarkable new alliance will mostly affect; our members.

October 23, 2013

Some days in life are predictable. And then, there are the days that greet you with such utter amazement, no matter how you describe it, you will never do it justice. In fact, I happened to have just that type of day last weekend in Chicago at the PeDRA (Pediatric Dermatology Research Alliance) conference. So please allow me to do my best job at sharing the highlights from that meeting. As you read the words, I only hope you can feel even a twinge of the powerful energy I experienced.

Despite missing my early morning flight to Chicago due to another commuter’s rush-hour accident on the highway, I managed to still arrive at the 1st Annual PeDRA Conference, albeit late. The conference was attended by 80 pediatric dermatologists and six patient advocacy groups. The goal of this meeting was to gather the top leaders in pediatric dermatology research in one room to share, develop, and discuss new and innovative research to treat skin disorders. At the top of their list is, gratefully, ichthyosis.

Because of ichthyosis’ rarity, I have become accustomed to attending these types of meetings, and having other more prevalent skin disorders in the forefront. I am usually in the “back of the house” as ichthyosis is typically not a hot topic on the agenda. However, at this meeting, I happily climbed over the rows, and took my place in the front row, as ichthyosis was in fact, in the limelight. Investigators from around the country presented innovative ideas, current research projects, proposed grants, and novel approaches throughout the three-day conference. After each presentation, one thing became very clear – I knew that FIRST was part of something remarkable.

One of the biggest highlights throughout all these discussions was actually feeling the passion of these physician/scientists, as they presented and discussed their work. They are fueled by curiosity; relentless in their research efforts; and simply put – they get it. They understand how important it is to find better treatments and cures —and they really care. They also understand what an important role FIRST plays in their research. Because we have access to patients and a pulse on the most pressing areas of concern, we complement their work in an immeasurable way. It was clearly evident at this meeting that FIRST and the other patient advocacy groups were held in the highest regard.

So what was accomplished? Four major areas of focus were determined, with multiple physician/scientists signing on to various leadership roles. Those projects included:

Neonatal Premature Skin – One group was organized to address the area of neonatal premature skin. This neonatal skin group will work together with neonatologists to develop and test scientifically based barrier formulations aimed both at improving barrier function and promoting its maturation.
Observational Study - A second project was launched to begin a multicenter cooperative prospective observational study, enrolling infants who will receive a genetic diagnosis and be followed on a monthly basis. The goal is to help physicians to better understand who is at risk for complications and allow the development of protocols to better anticipate and manage these complications.
NIH Rare Disease Clinical Research Consortia – A third project focused on a grant that will be submitted to the NIH Rare Diseases Clinical Research Consortia this year. The grant focuses on a multicenter collaborative network that will enroll patients with rare ichthyoses and perform coordinated longitudinal (over the course of time) and pilot (brand new) studies. It will also focus on defining clinical relevant biomarkers (changes found in skin or blood, such as in levels of a specific protein, that mark disease activity) and creating a basis for clinical trials leading to cures.
Inflammatory Ichthyosis – The final project addresses inflammatory ichthyosis and its correlation to atopic dermatitis (eczema) and shared biomarkers that drive inflammation and itching.

PeDRA plans to meet as a full group each year, and I for one, will not miss a moment (and yes, I’m already planning to leave an extra hour early for the airport!). I am very impressed and excited to see how the work develops from this dedicated group of game-changers for ichthyosis. I am proud and privileged to be a part of their efforts.

You can look forward to hearing updates and information from FIRST regarding the progress of PeDRA and of these projects in the future.

Let’s continue to educate, inspire, and connect,

Jean


We Asked. You Answered!

Recently we posted a question on Facebook regarding the best solutions for putting lotion on an infant or toddler with ichthyosis, (so it doesn’t feel  like a wrestling match!) The answers were so remarkably unique, we not only wanted to say thank you for your creativity, but we also wanted to share these helpful tips with the entire FIRST family – particularly those caring for a child with ichthyosis…

  • DVD player and an Elmo movie
  • IPad and we watch music videos on YouTube
  • I sang songs to my daughter. When she got older, we played name that tune. She is in 6th grade now and still asks to play name that tune when she is soaking in the tub.
  • Sing to them! Or let them run around while you chase them and apply their lotion… This gives you both a good workout.
  • Center yourself with deep breaths before and during applications. Be aware of your facial expressions and tone of voice and seek to impart calmness and empathy. If humor is at your finger tips, giggle with your child as she or he squirms. Use a soothing lullaby or music to accompany you. Give your toddler a plastic doll and lotion so they can play at being the one in charge. Give lots of time for open ended play.
  • Let them “help” with a little coconut oil so if it goes in their mouth it’s safe.
  • Try to turn it into a fun game.
  • Make up creaming songs with all the body parts.
    “This is how we cream our tummy….”
  • Give them a toy to hold. Sing a song. Tickle in between rubbing.
  • My husband and I make it a game and have our 23 month old help us out. She’s gotten to the point where she will tell us where to put it on next.
  • If they aren’t light sleepers, while they slumber. Otherwise you need 2 people, one to hold them still, the other to apply. Singing was always a way to improve an arduous task.

Any more tips for “lotion time?”  Contact: Mneville@firstskinfoundation.org

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]