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Posts tagged ‘ichthyosis’

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.


Member with self-proclaimed “long legs not meant for running”, will run Aramco Houston Half Marathon for FIRST

 

It is always exciting at FIRST when new members are inspired in such a way that they immediately embrace our community, making the most of our services, resources, and opportunities to connect.  In June of 2013, we met Andrew and Heather Sanders for the first time, along with their son Ruairi, who is affected with epidermolytic ichthyosis (EI), at a regional support meeting in Dallas, Texas.  Ruari was just six months old.  In a little over one year’s time, they have made numerous connections within the FIRST community, providing support for others and enthusiasm for our advocacy efforts, in every possible way.  Today we are sharing the story of why Andrew, a man who self-reportedly does “not have legs for running,” will run 13.1 miles, to say thank you

Heather and I had decided we would try to run a marathon when we moved over to the United States. We had originally applied to do a full marathon in 2012, but our arrival to the states was delayed by a few months, so we decided to defer.  I ran the Houston half marathon in 2013, not long after Ruairi was born.  It was particularly hard to keep my training going on with little to no sleep in the early months!   Obviously, Heather couldn’t run in 2013, because it was only a couple of months after Ruairi was born. She did run her first marathon in 2014 and managed to beat my time! So, needless to say, I have extra motivation for 2015!

Sanders-webBut our story with FIRST began after Ruairi was born in 2012. We were obviously aware of the fact that his skin wasn’t as we’d expected.  It was very red in places, and sort of paper-like in others.  The doctors ran over a number of possible explanations, many of which were deeply concerning, and told us that he would be taken to Texas Children’s Hospital in downtown Houston.  Before he was taken by ambulance, one of the neonatologists mentioned the possibility of ichthyosis to us.

I was aware of ichthyosis, having seen a documentary back home in the UK about a family in England who had two daughters with harlequin ichthyosis.  When we googled the term ichthyosis, the image results primarily showed babies with harlequin, so we knew that Ruairi didn’t have that particular form of ichthyosis. But we were obviously still very worried about him.  Heather quite quickly found her way to both FIRST and the UK ichthyosis support networks and we have found them to be an amazing resource. Indeed Heather is very active in the Facebook community, both with friends whom we’ve met at FIRST conferences and with new members.  We had a great time at the FIRST Family Conference in Indianapolis this past summer. We met some amazing people and learned a great deal.

We were even motivated to organize a fundraiser day at the Houston Astros a few months ago, which we were more than pleased to do.  It’s really great that MLB teams do this for charities.  It brought some of the local families who are affected by ichthyosis together, while raising some awareness among those who came to the table and picked up a wristband or some literature.  Obviously, there is still a long way to go.  It was just only this weekend that I had some harmless but frustrating comments from strangers that Ruairi looked like he’d gotten too much sun.  My stock response is to tell them that he has a skin condition and, and no, I haven’t let my two year old get a second degree burn, although I tend to only think the latter part of that line!

In all honesty, I’m running the 2015 Houston Marathon, January 18, 2015, in hopes that I can raise some money to help 10151801_10152426926206153_735919315687901046_nsupport FIRST by way of thanks for the support they have given us.  I’m sure I can get some of my friends to sponsor me on the basis that a half marathon is a challenge for anybody, but particularly a former basketball player of 6’8″!  My long legs are not really made for running.

In the longer term, I’m sure like most people reading this, I really hope for a cure.  I’m confident that a good amount of research into genetic conditions is already happening and that people who deal with ichthyosis can benefit from scientific discoveries elsewhere.  Obviously this all comes down to money.  Perhaps the money I raise can also be put towards research.  But perhaps just raising a little awareness will also do some good! A donation link has been set up so you can join us in supporting FIRST, and making a difference.

-Andrew Sanders

How Can I Prepare for My Visit with an Ichthyosis Medical Expert?

So, you’ve finally scheduled an appointment with an ichthyosis medical specialist, but have no idea as to how to prepare – no worries, our physicians will guide you step-by-step on how to have most effective visit possible.
At the FIRST National Family Conference in Indianapolis this past June, we sat down with Drs. Keith Choate and Philip Fleckman and asked them that very same question. Here’s a video clip of our interview, followed by a checklist of the critical steps necessary to prepare when meeting with an ichthyosis specialist.

• Educate yourself as much as possible, beforehand. The FIRST website is a wonderful resource with abundant information on the both the clinical and emotional aspects of many types of ichthyosis and related skin types.
• Bring the affected person to the visit only and leave the rest of the family at home, if possible. This will help with concentration, focus, and ensure that you cover all your areas of concern. The more relaxed you can remain, the more effective the visit will be.
• Discuss the situation with your spouse, or family members, that will not be at the doctor visit. Write a list of their questions and your questions, so you don’t forget anything, and bring it with you.
• Write a summary, journaling what your experience has been since you or your child was diagnosed. Reach out to the doctor before the first visit, by either mailing, emailing, or discussing it with them over the phone. Let them know the exact genetic diagnosis if you have that information, symptoms, concerns, and specifically how ichthyosis is affecting your lifestyle. Writing it down may also take some of the emotion out of the story, so you can remain focused, and also help the doctor to better prepare for the visit.
• Bring all blood test results, physician reports, photographs, etc. – anything that has been medically recorded.
• Always remember there is a difference in what you read on the internet, and what the average experience might be. Many times the internet is filled with “worst case scenario” stories. At your visit, discuss the things that scare you with your doctor. He or she will be able to discern medical fact from hype and sensationalism, and provide more supportive stories, people and resources.

Don’t hold back on discussing anything that comes to mind, particularly issues that have made you uncomfortable. This visit is an opportunity to educate yourself and to give yourself peace of mind.

Can Reality Outshine our Wildest Dreams?

On any given day, Amy and Andy Coolidge of Frisco, Texas, can be found sprinting from one doctor’s visit to the next, while keeping up with life’s never-ending demands and “multi-tasking to the max.” Yes, they are a married couple in the middle of their lives. Yes, they have jobs, housework, finances, and errands to run. And, yes, they are raising three young children.  However, the Coolidge’s are juggling just a bit more than most – as each of their three children have special needs.


Their children, Chase, age 8, Madison, age 12, and Drew, age 14, are all affected with the rare disease, Trichothiodsytrophy, also known as TTD.  According to Dr. John DiGiovanna of the NIH, “TTD is a rare autosomal recessive disorder that is characterized by brittle, sulfur-deficient hair, short stature, and multisystem abnormalities. Patients may have exaggerated sensitivity to sunlight (photosensitivity), developmental delay, recurrent infections, and ichthyosis.”

Mom Amy says, “Trichothiodystophy affects all of my kids differently.” Madison has Primary Immune Deficiency, a condition which weakens the immune system, allowing repeated infections and other health problems to occur more easily, and Neutropenia, an immune deficiency which presents as an abnormally low count of neutrophils, a type of white blood cell that helps fight off infections. Chase also is immune deficient and has most recently been diagnosed neutropenic as well.

And yet, even while faced with these extraordinary challenges, the Coolidges greet each day with hope, energy and grace. They are bound and determined to make the very best of their situation and the very best lives for their children.310

“These kids are amazing, challenging, daunting, and inspiring,” says Amy.

”People stop us at the grocery store, at school, and in restaurants to comment on how much joy our kids bring them just by seeing them, knowing them, or talking to them. Every day brings a new emotion. Some days it brings happiness, some days it brings fear; but every day brings knowledge. We learn something new about Trichothiodystrophy and ichthyosis every day.”

But on one particular day last February, they were greeted with something a little more – a stroke of magic, courtesy of the Make-A-Wish Foundation.

IMG_4384They were informed that Make-A-Wish would not only be sending them on a spectacular trip to Disney World, for seven days and seven nights, but the local Dallas Make-A-Wish chapter would also be granting the “firefighting” wishes of  little Chase, making him an honorary firefighter for the day. “He got his own bunker gear. He flew in the Care Flight helicopter, and they even had him put out a fire and rescue someone!” said Amy as she described “Fire Safety Town,” equipped with “mock” rescue operations.

“To see your son, who goes through a lot, doing something he really wanted to do is truly a blessing,” added Chase’s dad, Andy.

But the dream didn’t end there. Madison, now an official “Wish Kid” was also asked by fashion designer Loren Franco to participate in a fashion photo shoot!

“Madison was so excited, she had never done anything like this before.”IMG_4820

The photos were stylized as “dream like” fairytales with Wish Kids strolling through a sunny meadow, wearing dramatic, flowing dresses. But not just ordinary dresses, these were Loren Franco originals, and by that, of course, means they were born from the imagination and crafted of “the unexpected” – more precisely…the were made from real parachutes!

The photos will be featured in upcoming promotional materials for Franco’s “Reaching for the Stars” fashion show scheduled for September 20, 2014, where she’ll introduce her latest line of art-inspired fashions and accessories. The cat walk will be graced by the Wish Kids themselves.  “Madison and a few other Wish Kids were also asked to be a model in the fashion show in September. It’s like this wish never ends!” added Amy.

So, yes, for this special family…reality shines on. Stay tuned.


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.