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UFIRST Scholars Talk College Prep & Ichthyosis

UFIRST ScholarsPlanning for college, both financially and emotionally, as well as academically, can be a daunting task. And, if you have a visible appearance difference, like ichthyosis or a related skin type, it can present even more challenges. We asked our UFIRST scholarship recipients just how they felt about planning for college, and whether or not having ichthyosis factored into their planning and/or decision making process. The responses varied greatly, and we’re excited to share them with you in upcoming weeks, beginning with today’s interview with 2015 UFIRST Scholarship recipient Ryan Balog, affected with Congenital Ichthyosiform Erythroderma (CIE). Discover how Ryan planned for college, what he may have done differently, and how he strongly believes in educating new friends about ichthyosis.

How did (or didn’t) ichthyosis affect your decision to attend college?

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Ryan Balog

Having ichthyosis personally did not affect me in my selection of a college or deciding to go to college. I personally always wanted to become a math teacher and share my gift in math by instilling confidence in these skills to the next generation of students.  I knew  attending college would be required to reach this goal. Luckily, the college I decided on, LaRoche College in Pittsburgh, was very close to home and I will be able to commute and live at home.

What can you share with other teens, or parents of teens, regarding preparation for college?
If I were to share a few things about my preparation for college, I would mainly focus on scholarships. College tuition is so expensive to begin with, not to mention the added-on costs of books, housing, and dining. One way I personally was able to help reduce the cost was applying for a lot of scholarships, like FIRST’s UFIRST scholarship. A scholarship, here and there, can really reduce the cost of books and tuition per semester. My mom always says “If you don’t try, you will never get,” and I strongly agree with that, particularly with scholarships. So my college preparation taught me to apply for as many scholarships and aid as you can.

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(L to R) Jelani Hedley, Braden Chan, Ryan Balog.
2014 National Conference-Indianapolis

What do you wish you had known about the process that you would like to share with teens?
One thing that I wish I had known more about prior to applying was the importance of being well-rounded. Luckily, I was fairly well-rounded, but could have done more. If I were to do it all again, I would definitely join as many school sports, clubs, and events as were available to me. I strongly suggest volunteering, if you do not already.  I volunteered as a junior camp counselor for Camp Horizon, Millville PA. They have a lot of these camps for kids with skin conditions throughout the summer.  I also volunteered at an assisted living facility, where I was in charge of running the bingo games. I personally learned that if you are on the borderline of getting into a school or getting a scholarship, they base a lot of their decision on your extracurricular activities.

How do you plan on telling others about your ichthyosis while at college?

I plan on educating fellow classmates and teachers about icthyosis. When I was younger, I would always be shy about telling everyone, but now I am more comfortable explaining the condition of ichthyosis. Nothing bad will happen if you ever share the story of your ichthyosis, and inform others about the condition. It will only raise more awareness and benefit you and others in the long run.

 


Awareness Begins at Home #IchthyosisAwarenessMonth

For Ichthyosis Awareness Month (IAM), we are delighted to be sharing an insightful post from our “Guest Dad Blogger” and long-time FIRST member, Mark Klafter, father of Adam Klafter, affected with Epidermolytic Ichthyosis (formerly known as EHK). In this post, Mark shares his thoughts on deciding where and when ichthyosis awareness raising might have the most far-reaching impact.

Awareness Begins At Home #IchthyosisAwarenessMonth

Ichthyosis Awareness Month is now upon us.   If you didn’t know that, you’re not connected to FIRST in enough ways!    Many people struggle with what to do during this time.   How do I raise awareness?   Do I need to raise awareness?   The answers are “simply,” and “yes.”   But don’t worry, I’m not here to preach to anyone about what they “must” do.

I’m sure everyone would agree, ichthyosis is a very personal thing.  For many, they like it to even be a private family matter.   I get that.  And far be it from me to tell anyone how to live their life.   Like everything else ichthyosis-related, skin care, fundraising, etc., awareness is something you need to do in your own way, and at your own speed.  Also, in my opinion, awareness begins at home and with those closest to your family and community.  They are the ones who have the most interest in trying to understand, and perhaps educate others.

However, before you can educate someone else, you have to first understand what you’re dealing with.   Could you go out there to anyone and simply say “it’s a genetic skin condition,”  or, “my body doesn’t shed skin as quickly as it should,” or, “my body over-produces skin cells?”   Of course you could.  But would you really convey to someone what ichthyosis really is all about?  Would they have empathy for you or your child’s situation?   Would they be compelled to help another person understand ichthyosis, or perhaps support FIRST with a donation?   The answer is, likely, no.

Ichthyosis is complicateIAM_Logo_WebAddressd — period.   I’ve spent the last 13 years continuously trying to learn about and understand my son’s EHK –taking the science of it and converting it into an analogy or example that any nonmedical person can understand.   Only recently have I begun to feel like I’m at the point where I can give someone that clear understanding of what causes his skin to look and behaves like it does; what the complications in his life are because of ichthyosis. And, after over a decade of practice, I can do it in 2 minutes or less! Don’t worry, you’ll get there.

Once you feel you understand the condition, and can clearly communicate it, start with other family members, and your closest of friends.   These are the people you or your children will come in contact with more than anyone else.  Their level of understanding and “awareness” are critical. Again, this is where awareness begins, at home.

Once you’ve accomplished that, you’re ready to go tackle the world — should you choose to.   Perhaps try and schedule some time at your child’s school to go in and talk to his/her science class.   Maybe you can post an ichthyosis “fun fact” every day on social media.  Perhaps write a brief story/article for your neighborhood, church, or school newsletter.  Or maybe even you go BIG and contact the local media to see if anyone will publish a story on ichthyosis, and your family.   Whatever you choose, it has to be what you’re comfortable doing. That’s when self-advocacy truly resonates with others, and unquestionably makes a difference.

Happy Ichthyosis Awareness Month!


A Change of Heart in the Dominican Republic

FIRST is proud to share stories from members all over the world as they travel the path of courage and self-discovery.  FIRST member, Bailey Pretak, a model self-advocate, has written yet another brave chapter of her own incredible life story — one that has never been hampered by her ichthyosis. We are delighted to take you along on the journey of Bailey’s life-changing mission to the Dominican Republic.

I’ve never been one to let my ichthyosis hold me back from pursuing what I want out of life.  This month was no exception. I willingly chose to go to the Dominican Republic, an island south of Florida in the Caribbean, for a weeklong mission trip.  The crazy thing about all of this is I cannot sweat and the “winter” weather in the DR is in the mid-high 80s!  I knew I would be out in the sugar cane fields with little to no shade, so I also made sure the doctors and nurses knew about my condition (they were at every village with the Vacation Bible School staff). I also had two spray bottles with me and I thought really hard about the best lightweight material to wear for the heat. I had four instant icepaks on me and I even had a hat and an umbrella to help with shade as well. (As it turned out there was plenty of shade, and sporadic rain showers to keep me cool. However, I did, and will always, err on the side of caution).

10150564_837593803443_2352085937239324575_nIt ended up being the most incredible experience.  I had already been to Romania twice on mission trips, but this one was different.  The Dominican Republic is a third world country.  I’ve seen the photos of the living conditions, but it cannot even begin to compare with seeing it firsthand.  These people live in tiny villages out in the middle of sugar cane fields.  Most have to travel twenty miles one way to get clean water.  Many work a full day and only earn $3.  They don’t know when they will get their next meal.  They don’t have shoes that fit them properly, children don’t have underwear, and they don’t have the privilege of medicine or even band-aids when they aren’t feeling well.

My dance ministry, Beautiful Feet, and I went down to lead Vacation Bible School with the children.  We wanted to teach them just how great God’s love is and how He is always there for them.  The children were so precious.  As soon as we would get off the bus, there would be a child in your arms or holding your hand. They just wanted love.  We had a translator to help with the Bible story, but when we were playing with the kids or helping them with their craft, we were pretty much on our own. It makes you realize how language is not as big of a barrier as you think. You learn words from each other.  Smiles, hugs, and laughter are universal. Their faces would light up when you’d show a photo of them, because they don’t have mirrors to see themselves.  While we were with the children, there were other people ministering through construction – painting, putting on new roofs, building new homes. There were doctors and nurses who would take care of the people bringing their families for medicine and healing.  People used their talents in basketball, baseball, and dance to teach and train the villagers. There were still others who would visit the homes to deliver supplies and to pray blessings over the families.  Lives were changed and not just the Dominicans.1454611_837600075873_3535319247137359167_n

I know that I went home with a full and changed heart. I came home with the knowledge of how over abundantly we are blessed.  I actually sat in my house and cried with gratitude for all that I have, all that I’ve experienced, and all that is provided for me.  I learned true joy from the Dominicans. They have so little, yet they are the most joy-filled people I have ever met. They don’t have much, but they can see that what they do have is a blessing from God. They also put far more weight into relationships with family and friends than we do.  I went expecting to bless them and in return I came back blessed.  I know I left a piece of my heart forever in those tiny villages in the sugar cane fields with the most beautiful and joyful people.

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What Exactly is Gene Therapy?

Today, one can hardly read the health and science section of a national newspaper, let alone any medical journal, without seeing a story related to the field of gene therapy, targeted drug therapy or genomics (the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes). But what exactly is gene therapy, and how does it apply to rare disease?

In simple terms, gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery. Researchers are testing several approaches to gene therapy, including:

  • Replacing a mutated gene that causes disease with a healthy copy of the gene. For example, TALEN and CRISPR technology cuts out the mutated region and splices in the normal gene.
  • Inactivating (“knocking out”) or suppressing (“knocking down”) a mutated gene that is functioning improperly.  For example, FIRST and NIH-funded research in Dr. Amy Paller’s laboratory at Northwestern University is using nanotechnology to preferentially “knock down” the mutated keratin 10 gene.
  • Introducing a new gene into the body to help fight a disease.

Gene Therapy and Rare Disease

Additionally, there is an increasing interest in the research of gene therapy as it pertains to rare genetic disease. According to a recent article on Medscape.com, Targeting Drugs for Rare Disease, Gayatri R. Rao, MD, JD, Director for the Office of Orphan Products Development (OOPD), states “…increasingly in the routine practice of medicine, we are seeing more patients with rare diseases. Part of the reason for that is an increase in the diagnosis of rare diseases. Before, we would cluster groups of patients into syndromes, and now we are realizing that there are actually different disease states.”

Additionally, Rao notes, “Not only are more patients being diagnosed, but from a therapeutic standpoint, interest has increased in the development of therapies for rare diseases as a result of an increased understanding of genomics. We are able to target therapies, which has expanded interest in the treatment of rare diseases.”

It seems the more gene mutation targets that are discovered, the more main stream diseases are fitting into the “rare disease” category.

With regard to the effect this evolving focus on orphan diseases will have on medical research in general, Rao states, “This will have an impact on every field of medicine. Moving forward, the lessons being learned from the orphan products group will be applied across the rest of the regulatory landscape and to medicine in general.”

Although gene therapy is a promising treatment option for a number of diseases (including inherited disorders like ichthyosis, some types of cancer, and certain viral infections), the technique remains risky and is still under study to make sure that it will be safe and effective. Gene therapy is currently only being tested for the treatment of diseases that have no other cures.
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Ref; For full interview go to: Targeting Drugs for Rare Disease http://www.medscape.com/viewarticle/834442

Ref; http://ghr.nlm.nih.gov/handbook/therapy/genetherapy – Genetics Home Reference, Your Guide to Understanding Genetic Conditions


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Meet FIRST Member, Kenny Krips

 “I am no longer stuck…”

As life would have it, after a few failed attempts to connect during a very busy fall, we finally had the pleasure to meet with member Kenny Krips in Philadelphia this past October. Over the summer, Kenny had contacted the FIRST office to check in, say hello, and inform us of one important detail, “It was time to tell his story.”

We think it’s important to share it!

Kenny was born in a small southern New Jersey town, Glendora, in 1970, a time period when very little was known about his skin condition (ARCI-lamellar type ichthyosis), and even less known about its  treatment. His childhood, once depicted in a documentary entitled “Kenny”, was admittedly not ideal, as he not only was singled out for his skin condition, but was also the child of divorce at a very early age.

However, to his good fortune, Kenny was surrounded by the love of a supportive older brother, and a mother to whom he gives a world of credit for his upbringing.  “Raising a child with a rare condition that no one has ever heard of, virtually on her own, my mom never once let on that she was anything less than strong and confident,” he said. And, she taught him one of the most valuable lessons of all: Do not pity yourself. Respect yourself, and always present well.

And present well he does. Although Kenny admitted over the years he has experienced dark periods of frustration and low self-esteem, he now feels his life experience, including his ichthyosis, has brought him to a place of acceptance, with a good dose of wisdom.   He is a friendly, well-spoken gentleman, with a new perspective on life, and an enviable passion for his work.

“In a way, I am blessed to be around trauma,” Kenny proclaimed.

Although Kenny’s degree is in interior design, he feels compelled to help people on a deeper level. As the business supply coordinator for the trauma unit at Cooper University Hospital, he has ample opportunity to connect with people in a very deep and meaningful way.

“This woman came into the trauma unit because she had been in a car accident. She had Alzheimer’s and was very confused and agitated. I sat next to her and just rubbed her foot. She did not ask what happened to me (lifting his hands up to show that they are very affected), she just sat, looked me in the eyes, and listened. And then she started to calm down. She seemed to really be affected by what I was saying,” he said, further explaining why his job is so fulfilling.  “The other day a man in the trauma unit stopped me and said, ‘thank you so very much.’ For what?, I asked. ‘You asked me if I was ok and let me know you were here to help me and that made all the difference.’ It really made me feel good.”

Kenny credits his job as being a major influence for his newly found perspective. “There are so many parts of my job that make me feel good about being alive. And as my mom always said, “If you help one person in 44 years, you did your job.”

He has also come to terms with the notion that “everyone suffers” in one way or another. “I do still get frustrated, sometimes. Like when I want to wear black or be outside on hot day. But everyone struggles with something once in a while…finances, career, health issues. Everyone faces the fear of the unknown,” he said as he explained that this realization has left very little room to feel sorry for himself. “I am lucky that I have a strong family unit, a job I love, and amazing friends.”

With regard to how he now handles adverse reactions to his condition, Kenny adds, “I would rather have people acknowledge the “difference,” then just stare or ignore. But if they do stare, or make a face, I just have to pardon them. Life is too good to worry about it.”

When asked how his life would change if he suddenly did not have ichthyosis, Kenny joked, “Well, I’d never be out of a speedo!”  But then he added, “I am absolutely okay with who I am. I am not mad at who I am anymore, no longer stuck. I feel good about what I do and I want to continue to do that. I don’t want to stop. I think the man upstairs has it all mapped out for me. Whatever time I do have here, I want to make the best of it…ichthyosis or no ichthyosis.”

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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

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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.

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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.

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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

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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.