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Life After the FIRST National Family Conference…

 

Meet FIRST Member, Anke Fronz

It’s been nearly 5 months since the family conference! But by all accounts, the special connections and life transformations are still going strong.   Recently we caught up with Anke Fronz,  and she was delighted to share how she has discovered a more confident, “fearless” self, since meeting others, for the very first time, with ichthyosis.

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My name is Anke and I have ARCI Congenital Ichthyosiform Erythroderma (CIE). After several years, I finally took Dr. Amy Paller’s advice and signed up for the FIRST conference this past June. It was a tricky decision but deep inside, I knew this would be life changing.

I remember Peanut (my wonderful dog) and I driving to the conference. It was an interesting drive with lots of rain and some sun – not to mention, my accompanying bundle of nerves, and all of the self-talk! Recently, I was asked to write about my experience at the conference, but truth be told, I do not even now where to start. I went in as an insecure person-nervous and lacking in self-confidence, yet, somehow, still ready to go. I set the intention that I would meet people, not hang out in my room, smile a lot and, of course, deepen my knowledge about dealing with ichthyosis.

Once we arrived, Peanut, my faithful travel companion, was more than happy to go for walks and meet everyone he saw at the hotel. Deep inside, I feel he made it his goal to get me out of my shyness and have fun.

Well, it worked! I  felt quite differently on the days leading up to our arrival at the conference, than when I left. I met so many wonderful people and made some very good connections. I know that I will keep them from here on out and I cherish all the hugs, smiles and conversations over that weekend. It was so nice to meet people that were like me, and we had so many things in common. Plus, I met a lot of people that lived nearby and that was really nice to know.

For 42 years, I had a feeling that people with ichthyosis were out there, but I always felt alone. I guess because I never really met anyone with ichthyosis. Now, I am not afraid and I know that even though I may not see the friends I made or the people I met on a daily basis, there is this special wonderful group that I am part of and it makes me feel stronger. And, of course, thanks to Peanut, I met more people that I ever thought I would have on our first night at the hotel. It was wonderful and every part of me, inside and out, was smiling and beaming with happiness. Peanut was looking out after his mom for sure.

It was not only amazing to meet new people, but it was wonderful learning about how they handle their skin, and life in general.   When I was talking or listening to conversations about family support, or at what age they started putting lotion on themselves etc., it was at those moments, I thought about my family, especially my mom. She passed away in 2004 and she was my biggest supporter. She never made me feel different or let me get down on myself. Although, she never met Dr. Paller, or heard of FIRST, I know she would have loved the conference, and I know that she probably played a part in me attending this one. There are plenty of questions that I have about my childhood that I will never know or understand and it’s okay. You can not live in the past, the most important thing is to be in the present, in the now, as they say.

Anke & Peanut

Anke & Peanut

So, for the now, I am a lot stronger and more fearless than I was back in June. I take more pride and ownership of my ARCI CIE, it makes me “me” and I am very happy and blessed to have been given this life. I also do not feel the need to hide as much, stay under make up all the time. And on those days that it is so humid, and everyone is complaining, I walk with my head held high. I also can laugh inside when people are wearing shorts and I am freezing and in a sweater and pants. I am so very grateful to Dr. Paller, my dad and FIRST for everything and helping me out. I know that there is nothing that I   can not do, a person that I can not go up and talk to, because I am Anke, who loves to laugh, do new things and is not defined by just my skin. I look forward to future conferences, my work with FIRST, and growing the relationships I’ve created.

 - Anke Fronz


Why Donate to FIRST?

A fair and valid question. And, in fact, one of the most rewarding and exciting parts of the job, for the staff at FIRST, is to provide the answer. Likely you are already aware that donating to FIRST will ensure the continuation of the Research Grant Program, whereby the top investigators in the field of ichthyosis research will be supported in their pursuits to find better treatments and an eventual cure. However, as the global leaders in ichthyosis advocacy and research, it is not only our job to bring public attention to this rare condition and support the advancement of research, but to also embrace those living with ichthyosis today, and to help them live a rich, fulfilling, and healthy life. Your donations make this possible.Conf2014-TubBO-Melton-AS (5)

Did you know that one of the programs supported by your donation is our Regional Support Network (RSN)? The RSN offers numerous connection opportunities including regional meetings, family conferences, FIRST to Know conference calls, and access to an extensive network of ichthyosis experts. It is one of the many programs funded by individual donations, corporate appeals, fundraising events, United Way and CFC donations, and private grants. FIRST does not receive any governmental funding; it is solely funded by individual and private donations.

Perhaps you have even attended one of our events, been connected to a doctor or family in your region, or gained some insight about ichthyosis on a FIRST to Know conference call? If so, you may have a deeper understanding of the critical need for these types of personal connections, as well as the rare opportunity to build relationships with the top doctors in the field of ichthyosis. The RSN offers life-changing connections that may not occur in any other situation. Your donations make these connections possible.

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When asked about the importance of the RSN, and how it has changed the lives of so many, Program Director, Moureen Wenik, said,

“The ichthyosis community is a small and very close knit community. I have witnessed the relief people feel when they have someone to talk to who really understands what it is like to have a child with ichthyosis, or be an affected adult. It is great to talk to someone who ‘gets it’ and doesn’t have to explain ichthyosis. The RSN provides a safe place for families to connect, whether through social media, by telephone, or face-to-face at a meeting. Often they have never met another person who shares the disorder. The feelings of isolation for new moms, parents of children with ichthyosis, or affected teens or adults with ichthyosis, can be overwhelming. This support network gives people the opportunity to talk to others who have experience living with ichthyosis and to share their feelings with others who understand.” Your donations help improve the lives of those in the ichthyosis community.

The RSN is only one of the programs supported by your donations. We’ll be sharing even more amazing ways your support is making a difference.DSC03579

FIRST encourages you to take advantage of the many opportunities and resources available through our foundation. And, we thank you wholeheartedly for helping us to provide them for you, each and every day.

More information on the Regional Support Network.


Why Don’t I Sweat?

 

Since ichthyosis is such a rare disorder, often there are myths and misconceptions about the condition and how it might physically present itself. At the FIRST National Family Conference in Indianapolis, we sat down with Dr. Leonard Milstone, from Yale University, and posed a commonly asked question amongst those affected with ichthyosis: “Why don’t I sweat?”  This occurence of “not sweating” is often misunderstood and, in fact, many individuals have the misperception that those with ichthyosis do not have sweat glands, which causes them to be prone to overheating and heat stroke. Dr. Milstone clarifies fact from fiction in this brief video interview:

FACT:  People with ichthyosis do have sweat glands.  However, the thickness of the skin and the scale does not allow sweat to reach the surface of their skin and cool them effectively; so many individuals with ichthyosis do not sweat normally and suffer from overheating. Discover more “Dispelling of Myths” about ichthyosis.


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.