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Medical Experts Present Latest News in Ichthyosis Research #FIRSTNFC


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Collaboration was by far the word-of-the-day, with regard to the current culture of the ichthyosis research community.

During the What’s Up with Research session on Saturday morning, Dr. Leonard Milstone began by calling attention to the precise goals of ichthyosis research: understanding the medical and social issues, discovering ways to intervene to improve outcomes, and to effectively disseminate new knowledge. He also mentioned the critical importance of advocacy groups to stay involved, be a non-negotiable step of the process, and to continue to create opportunities for affected families and doctors to connect and learn from each other. With regard to the current state of research, Dr. Milstone said, “Advances in technology have led to more rapid, more informative, and more precise information and discoveries than imagined even 25 years ago.” Yet, Milstone also noted, “This new technology, which is a direct result of investments in research, is expensive.” And with the research expense rising as government support is decreasing, Milstone further emphasized that large-scale collaborations and private foundations will play an increasingly important role in supporting research.

Interview with Dr. Bill Rizzo

Another key focus of the session was the call for worldwide collaboration. Dr. Bill Rizzo introduced the STAIR Consortium, an international multi-center, collaborative research project focusing on genetic diseases that are caused by defects in Sterol (cholesterol) And IsopRenoid metabolism. The STAIR Consortium was created and funded by the NIH and NCATS. Its goal is to establish the natural history of rare diseases, identify biomarkers for future therapy studies, investigate new treatments, discover new diseases, and to train new physicians/researchers to work on rare diseases. Rizzo, one of the world’s leading researchers of Sjögren-Larsson Syndrome explained, “Access to biological data from as many patients as possible is critical for understanding the disease,” and he further emphasized that the input from patient advocacy groups is a necessary part of this type of collaboration. STAIR is currently working with seven patient advocacy groups worldwide, including FIRST.

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(left to right) Drs. Bob Silverman, Keith Choate, Phil Fleckman, Len Milstone

Dr. Choate provided the conference attendees with an update about the promising progress he and his team at Yale have made on the Gene Discovery Project. He mentioned that the Gene Discovery Project began at the FIRST family conference, in one small room, at the 2010 conference in Orlando, Florida. However since then, the research incurred tremendous growth. Including the 57 families recruited here in Indianapolis, they have recruited 375 total families and, so far, they have been able to determine a genetic diagnosis for 247 of those families. Since the Denver conference in 2012, they have also identified three new genes which cause ichthyosis. Choate also noted that advances in genetic sequencing technology has made genetic diagnoses faster and much less expensive. Of the 247 families who were able to obtain a genetic diagnosis from Dr. Choate and his team, 80% of them were able to get that diagnosis through their “pre-screening” process, which looks at the 11 most common genes that cause ichthyosis. This “pre-screening” test now costs the Yale lab between $30 and $50, which is a huge drop in costs from a decade ago. ”Learning more about the specific genetic causes of ichthyosis will enable future research to develop effective therapeutic pathways for treating ichthyosis,” Choate added.

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Dr. Britt Craiglow with patient, Evan Fasciano

Dr. Brittany Craiglow introduced a prospective evaluation of infants and children with congenital ichthyosis, discussing the importance of further investigation into the relationship of the phenotype (the way a disease presents itself) and genotype (the way a disease is caused)of ichthyosis. Craiglow’s evaluation process predicts that mass observation of infants can assist doctors and families in understanding and preparing for issues in growth and development. Specific medical issues observed include electrolyte disturbances, infections, and possible other medical complications, such as loss or obstruction of hearing or eyesight from birth through early childhood. Again, Craiglow also emphasized the need for a collaborative effort between doctors, patients, and patient advocacy groups so that proper management protocols for these medical issues can be established as efficiently and effectively as possible.

Dr. Phil Fleckman spoke about health related quality of life and patient reported outcomes from enrollees in the Ichthyosis Registry. The registry, which collected data directly from patients from 1994-2004, was a collaboration of the MSAB (Medical & Scientific Advisory Board) and was funded by the NIH. In addition to a clinical diagnosis, this type of doctor-patient collaboration has offered doctors critical regarding the “real life” impact of the disease and opening a window into the day to day physical and emotional challenges that often accompany ichthyosis. He hopes to extend these studies to determine how quality of life changes as participants age, to include those enrolled in Keith Choate’s study, and to add newer ways to assess the impact of ichthyosis on those affected and their families.

Judging by the close, supportive and collaborative nature between our doctors, patients, and FIRST, we are poised for great strides in ichthyosis research.

Not able to make the FIRST National Family Conference? Stay tuned with #FIRSTNFC

 


062212-5436(1)If you are unable to attend the FIRST Family Conference, not to worry. We’ll
be sharing the “Indy 2014″ experience with you, as much as possible, on
Facebook and Twitter throughout the conference. You can look forward to
interviews with attendees and same-day photos of all the families, friends,
and activities!

Be sure and stay in touch with all the excitement by using #FIRSTNFC, the
official conference hashtag! Plus, after the conference we’ll be sharing a
post conference summary, including video clips of presentations along with
news articles, blog posts, and e-mails derived from the very latest
research, treatments and tips for living with ichthyosis, as discussed a2014 Conference Logo-WEBt
the conference.

The FIRST National Family Conference kicks-off on Friday morning, June 20 at 7:00am EDT, and will continue until Sunday, June 22 at 1:30pm. Stay tuned!

 
 

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.

Skin Infection in Ichthyosis

 


Dr. John Browning

 

 

 

 

 

 

John C. Browning, MD, FAAD, FAAP
Assistant Professor, Baylor College of Medicine
Chief of Dermatology, Children’s Hospital of San Antonio

 

Today, we’d like to welcome Dr. John Browning, a member of the FIRST Medical Advisory Board, and our very first Medical Guest Blogger, as he discusses signs, prevention and treatment of infection in ichthyosis.

Skin Infection in Ichthyosis

Since patients with ichthyosis have an impaired or abnormal skin barrier, they are at higher risk for certain types of infection.  In particular certain fungal infections can often hide out from the immune system while infecting areas of thickened scale in the skin. This has been reported most frequently in cases of ichthyosis vulgaris, lamellar ichthyosis, and keratitis, ichthyosis and deafness (KID) syndrome, although any type of ichthyosis with thickened scale is at higher risk.

People with ichthyosis can also be at high-risk for certain types of bacterial infection.  In particular individuals with epidermolytic ichthyosis can become colonized with staphylococcus aureus, as well as other skin pathogens. This colonization can lead to infection.

Colonization vs. Infection

Colonization refers to bacteria living on our skin for long periods of time without the onset of infection.  It can often be noted from increased irritation and maceration (wetness) of the skin with a faint odor.

Active infection occurs when a bacterial strain undergoes uncontrolled growth. When the body attempts to mount a defense against this overgrowth you begin to see the typical symptoms of infection. Infection is characterized by warm and tender skin with increased drainage.  If there is concern for a bacterial infection, a swab can be taken in the clinic, which can let you know if an infection is present.  However it takes 48 to 72 hours to have results from a bacterial culture.

Prevention

Taking dilute bleach bath by adding a half cup of bleach to a bath tub (¼ cup if tub only ¼ full, or 1 tsp per gallon) can help reduce colonization and prevent infection.  Although this sounds like a strange recommendation, bleach has been used for many years in medicine.  Unlike antibiotics, there is no risk for resistance when using bleach.  Often patients benefit from continued use of dilute bleach baths or bleach washes in order to prevent infection.  It is important to remember that the concentration of bleach in a “bleach bath” is similar to the amount of chlorine in a swimming pool. (While bleach baths are helpful in preventing bacterial skin infections, they have not been shown to prevent outer ear infections (otitis externa).  If prone to ear infections then consider adding a couple of drops of a mixture of rubbing alcohol and white vinegar 1:1, to each ear after bathing).

Is important to recognize areas of persistent drainage or pain, as well as discharge, which may be a sgn of infectio. Be sure to see your doctor who may need to start you on an oral antibiotic.  Remember: bleach baths only prevent infection but cannot treat a bacterial infection once it has occurred.

Treatment

Some patients with ichthyosis are prone to recurrent fungal infections.  These individuals may  benefit from periodically taking an oral course of a systemic antifungal agent such as terbinafine.  It is helpful to discuss this option with your doctor.  It is also important in recurrent fungal  infections to check your fingernails and toenails. Thickened fingernails and toenails could be a sign of persistent fungal infection of the nails which may be spreading to other parts of your body and leading to this infection recurrence.   In cases of a fungal infection a quick in-office scraping by the dermatologist can let you know right away whether your skin is infected.

Recognizing Scabies

Lastly, scabies is a parasitic infection where mites invade your skin.  It is characterized by increased itching and scale.  Often patients have itchy bumps on their wrists, ankles, and waist line.  In severe cases the palms and soles become thickened.  Your dermatologist can do a quick skin scraping and make this diagnosis in clinic.

It is always important if you have areas of your skin that are not healing or worsening to visit your doctor and see if any additional test should be done.

 

 


Living the life you are meant to live…

We are delighted to share a guest post from FIRST member, blogger, portrait photographer and author, Courtney Westlake.

 

Courtney, as many of you know, is the mother of four-year-old Connor, and two-year-old, Brenna Westlake, who is affected with Harlequin ichthyosis. Her blog, Blessed by Brenna, invites readers into the Westlake’s lives and home, taking them along on a weekly journey of medical challenges, extraordinary courage, and the most unexpected life lessons of all. Her posts are a unique blend of topics including personal insight, clinical explanations of ichthyosis, and heartwarming updates on Brenna’s amazing progress.  It is not only a cultural commentary on living with a rare genetic skin disorder but an authentic, inspirational and truly unforgettable journey of love, hope and family.  Her blog this week expresses a moment of  transformation and the deep realization of “accepting the life you were meant to live.” 

 

My survival mode and the loss of the life I had planned

by Courtney Westlake

We are now entering the third year of Brenna’s life, and it seems very surreal to me. Every memory of the years since she arrived are some of my most vivid but yet almost part of a blur too – a blur of emotions, adjustments and just trying to find my way. And relying heavily on God and others.

Even though I’ve been a huge fan of Crystal from Money Saving Mom for a long time, I think I was most looking forward to reading her newly released book because I could relate so much. When I first saw the title, Say Goodbye to Survival Mode, I knew I would be able to both relate to the book and take away so much from it.

Because I was in the trenches of survival mode for a long time. The kind of survival living where life continues around you at lightning speed, but all that you are focused on is whether your child will live. The first year of Brenna’s life, I often felt like I was being smothered. Smothered in grief, frustration, stress. I did my absolute best to focus on the positive.

Courtney Holding Brenna

I said no and stepped away from just about everything I had been involved with. I cut my photography studio work way, way back – after having just completed a beautiful renovation to my studio space the year before. I stepped away from volunteer roles with community organizations. I quit most of my freelance writing jobs.

And instead, I lived one day at a time that year, maybe one week at a time during the better times.

In 2012, there was a NICU stay, eye surgery, 4 additional hospitalizations, surgery for g-tube placement, and multiple skin infections. That was what consumed me that year, and I don’t remember much else. I was surviving, and that was the only option at the time.

I forced myself to get dressed in the morning, to try to find a schedule, to become educated on Brenna’s skin care, to continue to do activities and read with Connor as usual. I forced myself to concentrate on the good instead of the bad. Many times, I forced myself to smile.

(And I accepted help. Because I knew that I needed it. I relied so heavily on everyone in my life for help. Lots of help. We have had so much help I can’t even name it all. And I know without that help, I would likely still be in survival mode. And I just want to take this time to say thank you to all of you for all you did for us during that time. I remember every single act of kindness, every card, every message, every gift card and meal. And I still think about your incredible generosity and thoughtfulness all the time.)

And I would say with complete certainty that every morning I got dressed, every time I focused on what we could do instead of what we couldn’t do, every time I made myself smile instead of cry, it was worth it.cIMG_0145

Because eventually time wore on…and we began to adjust. To life with two children, to life caring for a rare disease. And I realized that I had the chance to take this opportunity to rise up from living in the day-to-day to living both in the present and for the future. I realized that even though you may not be living the life you had planned, that shouldn’t stop you from living the life you were meant to.

Don’t let the loss of the life you had planned stand in the way of the life you were meant to live.

I felt like I was no longer giving things up, like I did that first year, but instead that I was being pulled in new directions, better directions. And I could follow those new paths by choosing the best attitude every day, by choosing to life with intention, by goal-setting again, by using my time wisely.

And I felt like I was almost getting a chance to start over. I could pursue my “best things,” as Crystal calls them in her book – the things I was most passionate about and most set me toward my goals and most fulfilled me.

As Brenna’s health care became less stressful, I did sit down and evaluate exactly what was most important to me and what I wanted to be involved in and what I actually felt like I had time to pursue again. Over the last two years, I’ve stepped back into some of my former roles, and I’ve chosen new ones, like becoming involved in FIRST.

I also have done a lot of praying. I have tried to really open my heart and listen to where God seems to be telling me to invest my time and my energy. To where I should be using my gifts and talents. And how to best care for and provide for my family right now.

CourtneyWestlake-2036In the first year, this blog (referring to blessedbybrenna.com) was very concentrated on one thing, the thing that was the focus of our lives at the time – Brenna. I was even encouraged by a lot of people to share more about other things in our lives, including about myself, but I just couldn’t. There wasn’t much to write about, because my life seemed to revolve around Brenna’s health.

But, gratefully, even though Brenna’s health is obviously a top priority for our family, our lives are now becoming much fuller with other passions and priorities that we have. I am no longer simply surviving, but I am living with intention and purpose again…and much more so than before Brenna’s birth. Though certain times still call for survival mode, I now know how to rise up again from surviving to thriving so that I am not continuing to live in the day-to-day.

And because of this, my writing and my blog have also evolved. I am pursuing more of “my best” and, as you probably have noticed, I am writing more about those things as they all relate to motherhood and the kind of person that I am striving to be…things like my personal goals, freezer cooking (a growing passion of mine and something that saves my sanity!), the books that I’m reading, the books the kids and I are reading, my emotions and feelings as a mother, some of my various writing projects, and my family.

All of these things – not just Brenna alone – influence my life and my role as a mother and wife…and these things are part of the new world of beauty and appreciation for difference that I have discovered because of Brenna’s arrival into our family.
My survival mode was a dark time….a time with a lot of tears and stress and mustering up all the energy that I possibly could just to parent Connor and Brenna every day.

I am proud to say that I now feel like I am living with purpose and intention just about every day. There are many areas I need vast improvement in, and purposeful living is always an exercise in discipline – it is something I work at every day.

But I’ve found that once you get into the habit of smiling, of choosing to see the good over the bad, it comes more easily in all areas of life. And it greatly impacts all other areas of life.

My life today looks much differently than when I envisioned marriage, children and my career as I was growing up. My planned life was much, much different than my real life is. But today, I’m realizing that this is the life that God had planned for me. When I was clinging to the things I felt like I was having to give up, God was leading me toward a different path, a path where I would be able to use the gifts and talents he gave me in a different way, as part of his plan. In each new season, I am striving to open my heart to where I believe God wants me to be and to go.

Now that I have stopped mourning the loss of the life I had planned,

I am discovering every day that the life I am meant to live is so much better.

bookcoverCourtney has recently released her beautiful and inspirational book, That’s How You Know, available at www.blessedbybrenna.com.  Like a warm hug from a very best friend, its uplifting messages and soft illustrations offer hope and inspiration on every page.

 


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 Passion for Patients


As many of you know, FIRST is closely affiliated with a team of unique medical professionals, from universities and hospitals around the world, who are dedicated to the research of ichthyosis.  Not only does their dedication and commitment offer our community a ray of hope for a better tomorrow, but in turn we have the opportunity to provide them with patient insights, research grants and the emotional support necessary to continue their quest for better treatments, and an eventual cure for ichthyosis. We reap the rewards, every single day, of embracing a “one team” culture with this remarkable group of physicians.

In fact, on November 20 of this year, FIRST had the good fortune and rare opportunity to meet with the entire Yale University ichthyosis research team, face-to-face, as they shared their special “patient first” philosophy, their passion for combining multi-disciplinary scientific discovery with real-world patient treatments, (a field known as translational medicine), and what these doctors envision is possible for the future of ichthyosis research.

Rita Tanis, Evan Fasciano

Rita Tanis, Evan Fasciano

One of the goals of the visit to Yale was to video tape individual interviews that FIRST could use in various presentations, either to solicit a new donor, enlighten our current members, or engage others who are not familiar with the ichthyoses. The video “campaign” would introduce the disorder of ichthyosis, the doctors spearheading the field of ichthyosis research, and the idea that their support will bring these doctors that much closer to better treatments – and perhaps even these advances in research would have an effect on other diseases as well.

As the day unfolded, it was quickly evident that these doctors, Dr. Leonard Milstone, Dr. Keith Choate, Dr. Brittany Craiglow, and Dr. Christopher Bunick, who are all approaching the same disease from differing angles, were inspired by the exact same component of the field of medical research: the patients.

When asked about his decision to go into the field of ichthyosis research, Dr. Keith Choate shared not only a profound story of clinician and patient interaction, but his exact moment of certainty-his very first time meeting an ichthyosis patient in Dr. Mary Williams’ clinic, one of founding physicians of FIRST. Although his initial reaction was that ichthyosis presented itself rather mildly, the next moment of his life would carve the pathway for his entire career. “As she took the layers of make-up off, she began to cry. It was clear that this woman was severely affected. And that ichthyosis was affecting this patient’s life in a fundamental way. She felt ashamed and I could see that,” he said.  “People talk about scientific epiphanies and the moment of knowing. I knew right then that this was important work, and that this was exactly what I wanted to do – research in ichthyosis.”

Dr. Brittany Craiglow, initially entering medical school with the intent of becoming a child psychiatrist, discovered during a volunteer mission at Camp Discovery, a specialized sleep-away camp for kids with skin disorders, that a physician-scientist track in dermatology might better suit her desire to connect and care for families and children. “When you’re a kid and you’re sick and everyone else can see it, it’s right there on your skin, it adds a whole other element. So it’s important to treat not just the condition, but the whole person. I love my job because I can do just that. I love building relationships with patients and, at the end of the day I just want to be a good doctor for them.”

The physician-scientist possesses the capacity to envision the entire process – a mastery of biotechnology as well as a passion for face-to-face interaction and treatment of patients and families.  As we stood in Keith Choate’s laboratory, surrounded by cameras, lights, and an audio boom, we were overwhelmed by the feeling of privilege; after all, we were among this unique breed of four passionate physician-scientists as they discussed the latest computer programs for genetic sequencing, the electron-micrograph, the Yale Center for Genome Analysis, and with equal enthusiasm, interacted with their patients and families right down the hall.

Dr. Leonard Milstone, a veteran doctor in the field, was as energized and excited as any new doctor entering the field of ichthyosis research today.  Not only does he bear an obvious warmth and affection for his patients, two of whom had joined us for the day, but he possesses a truly remarkable willingness to support and mentor the progress of the next generation of ichthyosis scientists in any possible way.  “It’s like the perfect storm. It is so very rare to have three young people at the same place with interest in the same rare diseases, each contributing  complementary expertise to help these patients,” he said with regard to Drs. Choate, Craiglow, and Bunick. “Plus, we have an unusually large and devoted group of ichthyosis patients, and the environment at Yale provides unique opportunities for these collaborations to flourish:  a Genome Center that has a special interest in rare diseases; an outstanding group of structural biologists; a high throughput screening facility, and a group of additional young skin scientists who utilize the latest technologies to understand skin disease.   And the final critical component is FIRST, a remarkably effective organization that grabs your attention and makes you want to do more while supporting each of us emotionally in terms of encouragement for the science and the clinical work that we do.”

Dr. Keith Choate Dr. Britt Craiglow

Dr. Keith Choate
Dr. Britt Craiglow

The doctors all agreed that medical research itself is advancing at lightning speed. “Questions that would have taken decades to answer, or thought impossible to answer, now may take only a few years, or even months,” added Milstone.   An equally enthusiastic Dr. Choate, with regard to the speed of medical advancement, offered his own vision of what may be not too far down the road. “What I see and hope for the future is a post-genomics era. Genomics is the key that unlocked the door for us and opened the possibility of identifying all the genetic mutations of ichthyosis of all types. We now have the information and are using it with next level biology such as high-throughput chemical screening, identifying natural compounds, synthesizing compounds, and creating new medicines to treat these disorders. We are leveraging genetic insights to make a difference in patient’s lives.”

Dr. Chris Bunick

Included in our physician-scientist interviews was Dr. Chris Bunick, a unique physician-scientist among dermatologists because of his application of x-ray crystallography to the field of dermatology research.  Dr. Bunick brought an even more expansive view to the notion of what can scientifically be achieved to help patients.  “X-ray crystallography technology enables determination of a 3-D image of what a protein looks like in living cells, therefore I am able to see the structures of the proteins that make up the skin barrier.  This technology is going to greatly improve our understanding of the science behind skin function,” he explained.  When asked about his futuristic vision, Bunick stated, “What I imagine is creating a niche of dermatology research, “molecular dermatology” so to speak, and one by one, determining 3-D structures of proteins highly relevant to normal and diseased skin.  I am in a position to identify and to tackle many disorders in the field of dermatology from this structural perspective, and my hope would be translation of this work into new classes of topical therapeutics to help patients with skin disorders.”

The importance of research funding was another topic that continuously surfaced throughout the day, and it is clearly encircling the thoughts of these physicians, day to day, as well. “But it’s only my two hands and we need more funding and more scientists working together to achieve this,” Bunick added.

But it was the words (or lack thereof), offered by the patients themselves, with regards to their experience with this team of Yale physician-scientists, that illustrated the results from long hours in the lab and the tireless years of dedication, in the most meaningful way.  “There really are no words for what they have done for me; they saved my child’s life. They knew exactly what Evan needed and exactly what to do, and if they weren’t there by our side, there’s a good chance Evan would not be here today,” remarked an emotional Dianne Fasciano, as she spoke about the days following the birth of her now 3-year old son Evan Fasciano, affected with Harlequin ichthyosis. “I have the best doctors in the world, and they are on it, always ready to help at a moment’s notice. I am so lucky.”

Rita Tanis, a middle-aged woman affected with lamellar ichthyosis, also spoke of her unique kinship with the doctors at Yale. “I have seen many doctors over my lifetime. But these doctors here, they really get it.  And they have real empathy. There is no need to keep explaining it to them, as they really understand the condition in a way no one else ever did. Now there is so much hope for better treatments, and even for that big, big word that we’re not supposed to talk about, a cure. It feels like it is right there in front of us. It’s palpable.”

Our day at Yale inspired many new stories for FIRST to share with members, supporters, the media, and the world. In upcoming months, we look forward to bringing you more articles and videos discussing our powerful advocate-doctor relationships, our collective vision for the future and more details about the cutting-edge research being conducted in both lab and clinical settings for ichthyosis research.