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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.

“Why is my skin red? ‘Cause blue is taken!” …Teen Panel a Smashing Success at FIRSTNFC!

photo(17)Two open and candid teen panel discussions, moderated by Program Director Moureen Wenik, took place on the final day of the National Family Conference. Nearly every seat full, it took only a minute for parents, siblings, and other affected members to enthusiastically ask questions, jot notes, and ultimately discover that this was as rare and unique an opportunity as any – getting inside the minds of teens! From how to keep their cool when strangers stare, to the pros and cons of parents’ ”picking at their skin,” these teens opened up and let the audience explore their situation, from their eyes; in their shoes; in their skin. Additionally, not only did the panel consist of those teens affected, but also included teen siblings of those affected for an even broader family member perspective on life with ichthyosis.

Some key takeaways from the discussion included:

Silence Isn’t Always a Bad Thing: The teens seemed to agree that sometimes they are “quiet” about their situation because they are coming to terms with it themselves. “We don’t always want to talk about what’s happening every day. Trust that if it’s serious enough, we will come to you,” said one teen girl.

Conf2014-MW (13)-1Listening is Key: Many teens encouraged parents to listen as carefully as possible. One teen remarked, “If you put a cream on me and I say it hurts, please listen to me and don’t force the issue. Even if you’ve heard it works for lots of other people, it may not work for me.”

Follow Our Lead: One teen remarked, “If I don’t want my skin showing, I don’t want it showing. If I want to wear leggings, I should be able to do so.” Ultimately she encouraged parents not to worry, and to follow the emotional lead of their children. “If I’m happy and comfortable with how I look, or what I’m wearing, my parents should be happy too.”

Public Grooming/Dusting: Parents were curious as to how the teens felt about them constantly picking at them or “dusting them off.” Most teens agreed that they were in fact used to it, and that the constant fussing did not greatly upset them. However, they also encouraged parents, that if it was not too much skin, perhaps they could wait until they got home. Another teen remarked that ultimately, “parents should teach kids to check themselves, and make it a lifelong habit.”

Leaving Home: Teens that are preparing to leave for college shared some concerns that they are currently addressing, including air conditioning, securing a private shower, and informing others of their conditions (more on preparing for college). One teen leaving for college this fall remarked, “I worried about what my roommate would think, because I can’t change my skin. But then I explained everything to her, and she said – no big deal. I have ADHD, does that matter to you?!” Another young adult from the audience offered advice based on her own college experience. “Talk to them, be honest and upfront with your roommates. It will also help by letting them know, so that they can support you, in case there is a medical issue – someone around you should know about your condition, particularly if you do not have family close by.”

Overprotective Siblings: From the sibling perspective, it seemed that most of them had more of a difficult time dealing with the skin condition than the affected individuals. A few of them commented that they feel very overly protective of their sibling, and when people make comments or stare, they “lose their cool,” and tend to want to react in an angry and aggressive manner. “I think it’s normal to get upset for your sibling. However resorting to violent comments and behavior is never a good thing. Just try to explain the situation to them, and also, if it’s a younger sibling, you don’t want them to see you getting angry. It’s not a good example,” said one teen sibling.

Transitioning from a Small to Large School, or Starting School in General: The consensus was that having the parents, along with the affected child, go into classroom and inform people about their skin condition was a positive experience. However, one teen strongly suggested, “Make sure that the affected person is prepared to answer the questions themselves, even beyond when the parent is there. Make sure they really know their condition, and how it affects them, so they don’t feel badly for not knowing what to say.”

Speak for Yourself:  For younger children, one teen suggested that maybe it’s not one hundred percent necessary for them to always use the medical terms to discuss their condition. Perhaps if they use their own words to describe their skin, like severely dry, rather than a medical term, it would make the situation more relatable.

Using Your Sixth Sense: Humor – Sometimes turning an uncomfortable question or conversation on its head with a little wit, may be a great way to show peers there is more to you than your skin. One teen commented that whenever he is asked why skin is red, he replies, “’Cause blue was taken!” Although this is not a solution in its entirety, it can really break the ice and lead to a more informative conversation.

We are enormously grateful to our two amazing teen panels for their courage and willingness to share an inside perspective on life as a teen with ichthyosis, and we wish them all the best of luck in all they do!

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!

 
 

Conference Update: When it comes to Ichthyosis, Do Women Have Different Concerns than Men? Yes.

2014 Conference Logo-WEBAt this year’s National Family Conference in Indiana, Bethanee Schlosser, MD, PhD will  lead a new breakout session, “Unique Considerations for Women with Ichthyosis.” During this session, Dr. Schlosser will identify and address the unmet needs of women with ichthyosis as it relates to their overall skin health, sexual functioning, and quality of life.  This is a unique learning opportunity for women, including a rare chance for women to voice personal experiences and concerns, in a safe and comfortable environment, and to ask those “taboo questions” often left unspoken. The session will include:

  • Effect of ichthyosis on specific functions (breast sensation, lactation, sexual function, etc.) as well as quality of life.
  • Women’s skin health as it relates to vulvar mucosal dermatology.
  • Patient-to-patient resources; group discussion; Q & A …and more!

This is a session for female attendees in any stage life. And, for those of you who may not be able to attend the conference, as with many of the conference breakout sessions, we will provide a recap article, featuring highlights from the session, in our online post-conference summary.

About our Worshope Leader:

Bethanee Schlosser is a Dermatologist and Assistant Professor at Northwestern Medical Faculty Foundation.

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.