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Posts from the ‘FIRST Member Story’ Category

525,600 Minutes



Mark Klafter

Mark Klafter

Today we share another 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 why he and his family have been attending and participating in the FIRST National Conference since 2002, and why it’s not too early to start planning for the 2016 Conference in San Diego!

Twelve months?…52 weeks?…365 days?…525,600 minutes?   How do you measure a year?   No matter how you look at it, we are now a little less than year away from the next Family Conference to be held in San Diego, California.  For those who  have attended a prior event, the anticipation and excitement has likely begun already.  For the many new families who have discovered FIRST over the past year, as well as those who have been a part of this community for longer, but never attended a conference, NOW is the time to start planning.

Why do I need to go to a Family Conference, you ask?   What’s so great about it, you wonder?   And, why do I have to start planning a year in advance, you say scratching your head?   Let’s start with answering the first two questions.

It’s almost impossible to truly explain why it’s such a worthwhile event.  The conference is simply the greatest experience you will ever encounter for you, your family, and for anyone affected by ichthyosis.   How many of you struggle to find a doctor that really knows and understands the condition?   WhJohn Schoendorf, Mark Klafter, Andrea Thorn, Lawaynta Wigginso wants to meet someone else with your exact type of ichthyosis?   And wouldn’t you like to shake hands with or hug that person you’ve been texting and Facebooking with, trying to solve that endless list of questions and challenges?   Well, all that can happen at the magical place called….the FIRST National Conference.  The conference is your opportunity to build those connections with so many other people who share your experiences every day; to ask an endless number of questions, and get just as many great answers in return.   It’s a place to meet and consult with the brightest and best medical minds in dermatology, who dedicate much of their lives to all things ichthyosis.   It’s an opportunity to feel safe, a place to feel accepted, and a time to be supported at a level you’ve never experienced before.

Just over 13 years ago my youngest son was born with EI (otherwise known as EHK).  Like many of you, it was quite the surprise, and changed our lives forever.   Three months after he was born, I boarded a plane alone and headed to the 2002 Family Conference in Seattle.  I’ll admit, the experience was a bit surreal.  It was even overwhelming to a degree.  But two and a half days later I went back home armed with knowledge, confidence, and friendships.  Most importantly, I left the conference knowing everything was going to be okay; that my wife and I COULD do this and that our son would grow up to be the ridiculously awesome 13 year old he is today.   We’ve never missed a conference since then.  San Diego will be our 8th consecutive one, and far from our last.

Now, the “Why?”   Why do you need to start planning this far in advance?   Well, there is a lot to consider.   Who from your family will attend?   Are you going to travel just for the conference, or make a vacation out of it and visit other areas?   How will you pay for it all?   Ahh, yes…that’s the tricky one.  The #1 reason I hear from people as to why they didn’t attend, or haven’t attended is due to financial reasons.   But that’s why planning ahead is critical.   I believe every family CAN experience the conference regardless of financial situation.  I searched online for the cost of airfare to San Diego from a dozen random cities, large and small, around the US.   The average airfare is approximately $375 per ticket.   It’s not cheap, I’ll admit.   But we’re one year away.  You would essentially need to save $1.03 per day, if you started saving now.   The hotel is usually about $119 per night, and you’re there for at least two nights.  That’s another $0.65 per day you need to save.    When you break it down, it all seems a little less daunting.

So how do you get to the point where you’ve saved enough for the trip?   And for more than just one person perhaps?  Here’s a few suggestions:

  • Start a change jar for all your spare change every day.
  • Find one thing you spend money on regularly that you can either cut back on or cut out all together. Skip the grande mocha latte and brown bag lunch for a while.
  • Walk instead of driving if you can. Figure out how much you’ve saved in gas money and put it right in the jar!
  • Raise the money through a small fundraising activity.
  • Get the whole family involved. Perhaps you or the kids can walk the neighbors dogs, babysit, hold a bake sale or have a neighborhood car wash.

There is an endless number of ways you can do it.  And you’d be amazed how people are willing to help when they know what you’re trying to accomplish.

There are even financial aid opportunities offered by FIRST that can help a limited number of families with conference expenses.   But no matter what path you take to get to San Diego, you have to act NOW.  Don’t delay!    It’s an experience you don’t want to miss.   Plus, now there’s only 525,595 minutes left.

-Mark Klafter

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!

When to Know When They’ve had Enough Heat!

Today we turn to long-time FIRST member, Mark Klafter, father of Adam Klafter, affected with Epidermolytic Ichthyosis (formerly known as EHK). Mark has been an active participant in FIRST activities and a frequent contributor to our FIRST for Parents Group on Facebook. His input as a mentor to other fathers and affected families has been invaluable. Just this past week Mark, once again, gave thoughtful insight into when and how to recognize the signs of overheating.  With the summer months quickly approaching, we thought it was an important message to share with our broader audience. Here is Mark’s input into a conversation regarding temperature monitors and recognizing your child’s signs of overheating:

“I would advise caution on the temperature monitors. My fear is that you will be lulled into a false sense of security. Generally kids with ichthyosis will be over heated long before you’d see a noticeable change in the actual body temp. Think about it this way. When you’re hot, you perspire. That’s the body’s way of regulating temp. Correct? It’s no different with your child or mine. The problem is that the moisture generally gets trapped under the thickened or scaly skin and doesn’t really evaporate, making them actually hotter, not cooler.

Adam Klafter, 2014 National Family Conference-Indianapolis. Photo Courtesy of Positive Exposure

Adam Klafter, 2014 National Family Conference-Indianapolis. Photo Courtesy of Positive Exposure

My advice would be to watch your kids closely when the weather is warmer. Each will have their own tell-tale signs. Some kids get really red cheeks. Some will start scratching their head more. It can be a variety of things. Eventually you’ll learn what to look for in your own child. And with younger children, who likely aren’t going to say anything until it can be too late, you need to teach them to recognize signs in themselves. And as always, for newer parents, I recommend being in the warm sun in small doses to start out, so you can see how they handle it. Maybe five minutes outside, five minutes inside, then graduate to 10 outside, 10 inside, etc. You’ll learn fairly quickly what they can tolerate, as well as what the warning signs of overheating are for your child. Just my two-cents.”- Mark Klafter

Stay tuned for more “pearls of wisdom” from Mark Klafter, as he will be contributing more insightful posts as the first “Guest Dad blogger” for FIRST!

More information on ichthyosis and overheating.

If you’d like to join the conversation on our FaceBook groups, log onto to: FB Parents, FB Young Adults, FBAdults, or FB Teens and ask to join. A FIRST staff member will promptly reply.

Want the latest news from FIRST and the ichthyosis community? Sign up for FIRST E-News and Updates!

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.

Want the latest news from FIRST and the ichthyosis community? Sign up for FIRST E-News and Updates!

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.


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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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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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.

Living the life you are meant to live…

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


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


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

by Courtney Westlake

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

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

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

Courtney Holding Brenna

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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


Building Your Case for Social Security Disability Benefits (SSD)


margot 2830.FURYAlthough during his “working years” FIRST member, Steve Flury, had contemplated applying for Social Security Disability (SSD), a nudge from a recent life transition would encourage him to take a serious step toward the process. 

“Once the three kids came along, our budget got really tight, and there was no room for me to miss work because of my condition,” he said.   

His first “real” step toward seeking SSD benefits was actually taken at a FIRST Patient Support Forum, two years ago in Chicago.  “I asked Moureen Wenik (Program Director at FIRST) if I should apply for Social Security Disability benefits and if she thought I’d have a chance,” Steve said.  “Mo’s response was very encouraging. In fact, she said ‘absolutely!’  She gave me some information about the SSD and then…I got to work.”

After consulting with a few Social Security Disability (SSD) attorneys, it was clear that Steve would need to collect all of his medical records including, but not limited to, lab results, photos, biopsies and hospitalization records, from dermatologists, general practitioners, and any other specialists he had ever gone to for medical attention.   Additionally he would need to collect letters from as many doctors as possible, stating that he was in a compromised situation for most work environments. The doctor’s letters would also need to explain the possible health complications associated with lamellar ichthyosis, like overheating and being prone to infections. Plus the letter would need to state that his condition would be long-term, lasting at least one year or longer. 

 “In other words, I was told to go in armed and build as strong a case for myself as possible. So that’s what I did.”

Steve immediately rolled up his sleeves and for the next several weeks, began the journey of contacting all the doctors he had seen for the past twenty years.  His additional due diligence included searching the SSD website for various “disability codes” he would need for his application. “I knew the more prepared I was, the more painless the process,” he mentioned regarding his desire for as “hassle-free” an experience as possible.

 “I have a few other issues like severe eczema, food and environmental allergies and asthma, but I believe the deal sealer was that I had genetic testing done…because you can’t argue with that – and it leaves no room for doubt.”  His genetic testing, showing a positive result for lamellar ichthyosis, added even more credibility to his medical documentation.

“Step one was to submit everything online. Then I was assigned to an agent that I needed to meet with in-person to substantiate the case.”  Due to the detail and thoroughness of his application, Steve was almost immediately approved. “In fact,” he mentioned, “she asked why I hadn’t applied sooner.”  Steve has now been receiving Social Security Disability benefits for nearly a year and a half.

In summary, although there is no  guarantee of approval for any social security disability claim, preparing the application to the best of your ability should include the following:

1) If possible, consult with a SSD attorney to be sure you are following the correct steps, and preparing as thoroughly as possible. Finances should not be a concern because attorneys representing individuals seeking SSD benefits cannot charge for consultations. They are only paid if a person is awarded benefits and the attorney’s fee is approved by either SSA or a Social Security Administrative Law Judge.

2) Contact any doctor, of whom you were once a patient, or currently a patient, and obtain complete medical records, dated as far back as possible.

3) Obtain as many doctor’s letters as possible, outlining specific details about the potential dangerous side effects of the condition of ichthyosis, and that you are in a compromised situation for most work environments. Letters must state that you will have this condition for a least one year or longer.

4) Obtain genetic test results.

Find out more about applying for SSD benefits.