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Posts tagged ‘EHK’

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!


Your Donations at Work…

 

Latest FIRST funded Research on Regenerative Medicine & Stem Cell Biology

As one might imagine, the most top-of-mind question FIRST is asked by nearly all those affected with ichthyosis is:  What type of research is FIRST currently funding?  And, in fact, one of the most rewarding and exciting parts of our jobs, is…providing the answer.

­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­Since 2006, Dr. Dennis Roop, an internationally recognized leader in skin disease research and his team at the Charles C. Gates Center for Regenerative Medicine and Stem Cell Biology at the University of Colorado, has been funded by FIRST research grants to continue their cutting-edge work in epidermolytic ichthyosis (formerly known as EHK).

 Traditionally, stem cell research has focused on cells that are isolated from embryos and have unlimited “pluripotentcy” (the potential to differentiate into any type of cell or tissue). However, the goal for Dr. Roop’s  project is to generate induced or “reprogrammed,” pluripotent stem (iPS) cells, from adult cells.

Dr. Roop is specifically working with adult cells of epidermolytic ichthyosis (EI) patients – essentially reprogramming, or “inducing” pluripotentcy, by introducing factors, into these cells, that are capable of removing all of the cell’s memory, stripping it of all genetic coding as an adult cell, and reverting that cell back to an embryonic-like state. The reprogramming procedure gives the adult cells nearly the same pluripotent capabilities as embryonic stem cells.  There are two advantages of working with iPS compared to adult cells: they can multiply for a more prolonged time than adult cells and gene correction strategies work more efficiently in iPS cells than in adult cells.

The long-term goal of Roop’s work is to create iPS cells from individual patients, correct the mutant gene they contain, differentiate the iPS cells into keratinocytes andthen graft the corrected keratinocytes back onto the patient–in hopes that  they will multiply and generate unaffected skin. The research is best described in the above video, taken September 2012, whereby the fascinating research of Dr. Roop and his team is explained to a family affected by EI, in the very clinic the research is being conducted.

What specific progress has been made?

To date, the defective K1 gene in one patient’s iPS cells has been corrected.   This was achieved by introducing a zinc finger nuclease and a piece of DNA that contains the normal version of the mutant K1 gene into the iPS cells.  The zinc finger nucleases are like molecular scissors that cut the K1 gene near the site of the mutation.   The cells own DNA repair machinery then replaces the cut, defective region of the K1 gene with the introduced normal region of the K1 gene.

Tests are currently being performed on the corrected iPS cells to make sure that they are genetically stable and contain no new mutations.  Once that has been confirmed, a special recipe of nutrients will be added to the corrected iPS cells to allow them to become keratinocyte stem cells, and those will then be grafted onto mice to see if they will form a normal epidermis.  Differentiating iPS cells into keratinocytes is routine in many labs and well-established in Roop’s lab.

More on Dr. Dennis Roop’s research regarding EI (epidermolytic ichthyosis).