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Posts tagged ‘ichthyosis’

Local Volunteer Talks Ethics, Advocacy & Why He Chose FIRST

“Ultimately I want to connect the narratives and provide a support system in the same way you do here at FIRST.” Sigfried Aragona, FIRST volunteer

Where would we be without the kindness, compassion and generosity of others? It never ceases to amaze us how people are so moved and inspired by the FIRST community – so much so that they are compelled to reach out and offer their services and skills in any way that might help. This summer, we’ve been privileged to be the recipients of one of these kind and generous souls, a local young man named Sigfried Aragona, who volunteered during his summer break, both last year and this year, at our Colmar national office.

Perhaps you’ve seen him on our Facebook page, because “Sig,” as friends call him, was willing to do just about anything we needed to keep our RAISE campaign thriving, and equally as important, to keep our mission to educate, inspire, and connect all those affected with ichthyosis, alive and well. When he was asked to handwrite the addresses on 200 envelopes and 50 thank you notes, (the mere thought makes my carpal tunnel ache), he said, “Sure sounds good!” In fact, he sat down promptly and got straight to work.  Even when we requested the extreme, Sig obliged with a smile.

“Will you lead our Zumba fundraising marathon?”IMG_0460

“Of Course!” Sig said.  (Note to those considering volunteering – be wary of sharing your hobbies with the girls at FIRST! Ha!)

With his cheerful attitude and overly abundant willingness to help, Sig has been an absolute gem and a blessing for the office, two summers in a row.  In fact, we’ve been in a bit of a “gratitude haze” about Sig. So much so that we had never really asked Sig what inspired him to contact us?  Surely there were other organizations to which he could have volunteered. We didn’t even really know precisely how or why he found us, even though we are eternally grateful that he did.

We sat down with him to find some answers.  We were pleasantly surprised that this kind young man had observed, and subsequently was drawn to FIRST, in the very same way and for the very same reasons as the FIRST staff, members, partners, doctors, and many other volunteers themselves.

But that’s not all. Sigfried Aragona, like FIRST, has a big, beautiful world-changing mission of his own.

How did you discover FIRST?

SA - I am a nursing student at West Chester University. I wanted to volunteer somewhere that was health-related, in the nonprofit arena, and truthfully you popped up at as a local advocacy organization.  And I lean towards advocacy because it is a passion of mine. That’s what brought me here the first year. Learning about your mission is what brought me back this time.

Why advocacy versus a clinic or healthcare facility?

SA – The idea of filling in the gaps of health disparities for those who are not getting support of health insurance, health care providers, or other governing voices, is my passion. Later down the road, I’d like to do advocacy for the LGBT community. I’d like to work for a medical organization addressing specific disparities in that community, but I haven’t narrowed that down yet.

I also aspire to complete George Washington University’s LGBT Health Policy and Practice Program, as a part of my post-undergrad education. Policy and ethics is a realm of nursing I am very interested in. And working at an advocacy organization like FIRST will help me to get the perspective of how patient advocacy fits into the ethical experience of healthcare.

Have you made any observations, learned anything new, or had any revelations since you’ve been volunteering here?

SA – Yes, many things. But one thing that stands out to me is that I think it’s interesting that FIRST has a very ambitious and big mission, and has made huge strides, with only six women, working in a small office above a dentist office. It strikes at the core of what advocacy should be. It doesn’t have to be grandiose. FIRST, no doubt, has a purpose – it’s as simple as that.

How was your passion for advocacy inspired?

SA – My passion for advocacy came from my experience as a member of the forensic speech team. The definition of forensic is the dissection of things.  So this team focused on the dissection of ideas. Political, social, and philosophical. The district of the team ranged from New York to Ohio to Virginia. There were poems, interpretive performances, speeches, etc.  So I heard a lot of presentations, in very unique ways, about communities who have not had a voice. I have found an outlet through this speech team community and it opened my eyes to the idea that it is necessary to hear the caliber and the many different perspectives of these issues to really understand. Once you hear these stories you want to do something. You want to help. I now want to turn my career into an advocacy experience.  I want to find my unique place in the world. Ultimately, I want to connect the narratives and provide a support system in the same way you do here at FIRST.

Please join us in thanking Sigfried for his many contributions, as well as all the generous volunteers at FIRST. Your time, talents, and warmth provide support for our community, today, tomorrow and for many generations to come.

And…you, no doubt, have purpose. It’s as simple as that.

Strategies for Success in the ER

Emergency room visits are a fact of life for many people with rare diseases. For many types of ichthyosis, overheating, heat stroke, or a sudden skin infection, among other illnesses, can play a large factor in the frequency of ER visits. And, when the patient is a child, these experiences can be especially stressful for the entire family. Here is a check list to help you prepare for the ER, long before you need to make the trip. Some are simple, some require a bit more effort – but all may make your experience as smooth as possible:

Prior to your child getting sick or injured, ask your pediatrician and pediatric specialists where you should take your child for emergent care. Remember to inform your child’s daycare or school of your ER/hospital choice should an emergency arise.

Create and frequently update a list of your child’s diagnoses, surgeries, medications, allergies, vaccinations and special diets. Be sure to include the name and date of the surgery and the concentration/dosing/frequency of all prescribed (and non-prescribed) medications and formulas.

Prepare an ER to-go bag. Fill it with comfort items, warm clothes, phone charger, snacks, medical records, ichthyosis educational booklets, and a copy of the updated health care list mentioned above, so you can grab and go when needed.

Prepare an emergency pocket card for first responders who arrive at the scene. (Or, hand them an ichthyosis awareness card from FIRST). Be sure to include the name and contact information of your ichthyosis healthcare practitioner as well as the FIRST website and contact information: and 215.997.9400.

Have a print out from the FIRST website explaining your or your child’s condition so you can hand it directly to the ER doctor. As ichthyosis and related skin types are rare, they may have little or no experience treating the condition.

Use your voice and encourage children to use their own. Explain everything that has occurred, as well as how it may have been handled in the past, and ask your child to explain their symptoms in their own words. Sometimes a clue for treatment pops up when a child offers their own description. (ear hurts, tummy hurts, etc.)

Be sure and have your speech prepared.  For example, “My child has ichthyosis and cannot sweat due to her condition. She is prone to overheating and that is what has happened here.” Or, “My child has developed a sudden infection due to her skin condition. She likely has a fever and will likely need antibiotics immediately.”

Be sure to give a Medical Consent note to your child’s guardians. If there is an emergency, they will be able to authorize care for the child. Also remember to inform them of your preferred ER choice.

Find out if your local hospitals, and hospitals near your child’s school, have a Child Life Specialist on staff. Keep their name and number handy. In an emergency, they can meet with you in the ER and can offer support and guidance during a highly stressful situation.

Try and stay as calm as possible. Breathe and realize everyone is doing their best. Your child’s life is what matters and everyone is on the same team. Again, being prepared beforehand can help avoid a panic situation.

Remaining informed and up-to-date on your child’s disease and medical history is an absolute necessity, for it affords you the opportunity to actively collaborate in your child’s Emergency Care management and treatment. Always remember, as the expert on your child and a vital member of the medical team, never be afraid to voice your thoughts and concerns during any medical encounter!

Need more tips for connecting with ichthyosis healthcare professionals? Find out how to prepare for your appointment with an ichthyosis medical specialist.


Can Ichthyosis Cause Swollen Lymph Nodes?

Dr. John Browning

Dr. John Browning
Pediatric Dermatology
Adjunct Associate Professor, UT Health Science Center


A member recently wrote into FIRST to inquire about the fact that she often felt swollen lymph nodes around her affected child’s neck.  We reached out to Dr. John Browning, from UT Health Science Center, to find out when lymph nodes are a concern, and if swelling can be a side effect of ichthyosis. Please join us in welcoming back FIRST’s medical guest blogger, Dr. John Browning.

Lymph nodes are small bumps below  the skin.  They are often too small to be palpated, or felt, but they can become enlarged during times of infection or active inflammation and from certain types of cancer.  Our tonsils are also a type of lymph gland, which is why they become swollen during times of a throat infection. Lymph nodes contain lymphocytes, a type of white blood cell, focused on fighting infection.  But they are also enlarged from inflammation.  Lymphocytes normally travel throughout the bloodstream looking for viruses, bacteria, and other invaders.  When an infection is recognized by contact with an antigen, a type of substance identifying the pathogenic organism, the lymphocytes travel to the lymph nodes where they create armies of lymphocytes and antibodies to protect the person.

In persons with ichthyosis, lymph nodes are often enlarged due to chronic inflammation.  Just as the ichthyosis skin is warm and red, the cutaneous lymph nodes are active due to an increase in circulating lymphocytes.  Essentially the lymphocytes and lymph nodes are “turned on” even though there is no infection.

Although we have cutaneous lymph nodes throughout our bodies, there are increased zones of lymph nodes along the back of the neck and the armpit and groin folds.  It is easier to palpate, or feel, lymph nodes in these regions.

One exception to enlarged lymph nodes being “normal” in ichthyosis is in Netherton syndrome.  Netherton syndrome, unlike other types of ichthyosis, is characterized by a decreased skin barrier, rather than thickened skin.  Although lymph nodes in Netherton can be enlarged due to infection and inflammation, there is a report in the medical literature regarding enlarged lymph nodes in Netherton due to use of paraffin-based emollients.  Paraffin is not usually absorbed through the skin but, due to the impaired skin barrier of Netherton, transcutaneous transfer can occur, resulting in a reversible disease of the lymph nodes. (Br J Dermatol. 1999 Sep;141(3):562-4.)

The majority of people with ichthyosis need not worry about enlarged lymph nodes as they are part of a healthy immune system.  If you develop a painful or unusually enlarged lymph node, you should seek advice from your physician promptly.

-John C. Browning, MD, MBA, FAAD, FAAP

Looking for more information about ichthyosis and related skin types?  Be sure and sign up for FIRST’s FREE E-News & Updates:


4 Top Tips for Surviving the Season to Socialize!

WestlakesMeeting new people at holiday gatherings can be a festive and fun way to celebrate the season. But for those with visible differences it can also present some uncomfortable challenges. Here’s some quick, easy tips (including some from FIRST member and blogger Courtney Westlake) to avoid awkward discussions or situations, and enjoy some good cheer all season long.

1)      Create a simple one-sentence explanation for new people you may encounter at a holiday party (or the forgetful.) Try something like, “I (or my child) have/has a rare skin condition, that isn’t contagious, but doesn’t allow my/her skin to function properly. It’s a bear in the winter months!” Try to keep it quick and simple, and move on to the next topic. After all it’s a festive atmosphere, not a medical conference, and most people will gravitate toward easy, light-hearted conversation in these situations. FIRST member Courtney Westlake (, says, “Sometimes, I’ll try to help a person relate to Brenna’s skin, and the winter can be a good time for that because a lot of people’s skin is drier in the winter. Finding a connection can help a stranger relate better. I might say something like Brenna’s skin gets much drier in the winter, just like a lot of people experience even without a skin disorder.”

2)      Host at your home – For the most part, neighbors, friends, co-workers and family will be aware of your condition. Hosting a party of your own can be a great way to avoid awkward questions or situations around the holidays.

3)      Get plenty of rest and relaxation and avoid the drama - The holidays combine high expectations, crazy relatives, strained relationships and extended time together. It’s the perfect recipe for drama. If the holiday gatherings are a little too woven with anxiety, feel free to say, “All the holiday hoopla is not great for me or my skin. I need to take a step back for a while.” It’s perfectly okay to step back from all the socializing, and enjoy some quiet time alone or with your family. Courtney Westlake also adds, “We’ve learned that if Brenna gets really run down, her skin suffers as a result. So keeping top priority on the health of her skin is also a great reminder for our family not to over-do it with the holiday activities.”

4)   Consider it an opportunity to raise awareness and educate  – If you feel so inclined, sometimes inquiries that arise in a social setting can be considered an opportunity to educate about ichthyosis, and perhaps even about FIRST.  If someone is interested in learning more, give them FIRST’s website address ( or phone number 215.997.9400. FIRST would be happy to provide them with more information.

In the end, it all comes down to understanding what works best for you, at the holidays or any other time of year, and simply informing a supportive community.

Need More Tips? Sign up for FIRST FREE E-News!





FIRST Member Lists Top Ten Reasons to attend 2016 FIRST National Conference

I have attended four FIRST National conferences, with my parents in the ‘90s and now my own family. Every single time I learn something new, make new friends, and leave the conference bursting with energy and hope for the future of our rare disease. If you or a family member is affected with ichthyosis or a related skin type, this is an absolute “don’t miss” event. Here’s why…

1)   Meet the Medical Experts - The National Conference offers the rare opportunity to learn from ichthyosis & related skin type experts. Experts. There are only a few in the country, and you can meet them, one-on-one! Free, fifteen minute clinical appointments are even available!

2)   Surround Yourself with Affected Families & Individuals - For once, ichthyosis is the majority. You’ll see people with your type of ichthyosis in the elevator and in the halls. You’ll see skin flakes on chairs. You’ll see people putting lotion on everywhere. Kids will hold hands with others and feel comfortable. Through casual encounters, formal presentations, and in-depth conversations, you will feel it and see it: you are not alone. This, by itself, is a life-changing experience.

3)   Make Friends that Last a Lifetime - Dealing with ichthyosis can be very isolating, not only for those affected, but for parents of affected children. Many parents feel overwhelmed with everything that comes along with an ichthyosis diagnosis, and the “ichthyosis family” is a support network that runs far and wide. At the conference you will no doubt spark connections for a lifetime.

4) Get ideas - Did you know that some people use a Dremel drill for their feet? That sleeping with surgical gloves can help your cream work? That UV rays are good for some types of ichthyosis but not for others? The wealth of information at the conference is always astounding – both medical and firsthand trial-and-error. Some of the most effective treatments I’ve found have been from suggestions at the conference.

5)   Stay In-the-Know – You’ll hear all the latest in research, from the scientists themselves! You’ll learn what’s new with FIRST, and how to get involved. Plus, you’ll find answers to issues like making special accommodations at school, how to spot an infection, or finding the best way to explain ichthyosis to a classroom or employer.

6)   See Your Future – The conference offers the rare opportunity to talk with those ahead of your life stage. New parents with affected toddlers can meet happy and adjusted teens with ichthyosis. Young adults can talk with 30-somethings about what it’s like to get a tattoo, get married, or nurse a baby while having ichthyosis. Adults can visit with seniors and find out what issues and solutions they’ve found for aging with ichthyosis.

7) Inspire Others - Ichthyosis makes for people of dignity, generosity, and perseverance. Sharing your strength with other new parents, other affected people, and even the dermatologists can be empowering to you. I’ll never forget how strong I felt when I was able to lift up a room full of parents just by sharing my own story. I am proud to know I have lessened the burden of others with ichthyosis.

8)   Have fun!  - From dawn till dusk, and beyond, the positive energy of the conference is contagious. We smile nearly the whole time we are there. The sight of the children playing together in the childcare room makes me tear up with joy. It wraps up with a Saturday night dance party and talent show! Plus, it’s San Diego. The beach, city, and nature are all right at our feet. Sign up for the FIRST San-Diego bus tour! A great opportunity to see the city and have fun with new friends.

9)   Meet the FIRST staff  - Did you know Jean Pickford has been with FIRST for more than 15 years? FIRST is more than just an anonymous funding source for ichthyosis resources, or an anonymous author of “fact sheets”. You’ll have a chance to get to know the FIRST staff, and to encourage them in the work they’re doing.

10) Score Free Samples - Generous sponsors and companies that are working on products just for ichthyosis contribute massive amounts of freebies—many of them are full size. The “swag bag” you’ll receive is guaranteed to make you feel like a red carpet VIP, and give you a few more things to try in your treatment.

-Denise Eiser, FIRST Member



What is Cyberbullying and How Can I Stop It?

Cyberbullying is bullying that takes place using electronic technology. Examples of cyberbullying include cruel text messages or emails, rumors sent by email or posted on social networking sites, and embarrassing pictures, videos, websites, or fake profiles.

As a member of the rare skin disorder community you have likely, at one time or another, been victim to discrimination, ignorance, or even violence.  And online cyberbullying has, unfortunately, increasingly made its way to the forefront of harassing and abusive actions towards others.  If you feel victim to online abuse, whether it be unauthorized or negative images, videos, comments, articles found on social media or elsewhere on the Internet, we encourage you to use your voice, take the appropriate steps and notify the representatives that can help. Below is a list of links, resources and addresses to which alerts and complaints can be sent for various online and social media companies. There are also links to resources on how parents can help their child respond to cyberbullying, as well as ways to deal with face-to-face bullying in general.

Use your voice. Report cyberbullying whenever it occurs. Together we can make a difference.


Advice from U.S. Health Resources and Services Administration:

The U.S. Health Resources and Services Administration advises parents to encourage children to tell them immediately if they are victims of cyberbullying or other troublesome online behaviors. The agency also lists a number of steps that parents can take to help prevent cyberbullying and how to respond to it at The site also includes extensive information on preventing and dealing with traditional forms of bullying. The Center for Disease Control also provides information on electronic aggression for parents, educators, and researchers at

How to report abusive posts on Facebook:

Facebook removes things that don’t follow the Facebook Terms (ex: nudity, bullying, graphic violence, spam). If you come across something on Facebook that doesn’t follow the Facebook Terms, use the report link near the post or photo to submit a report.

Other tools for addressing abuse:

It’s possible that you might see something you don’t like on Facebook that doesn’t actually violate the Facebook Terms. If you come across something you’d rather not see, you can:

For information about what is and is not allowed on Facebook, please read the Facebook Community Standards.

How to report harassing or abusive images and videos on Youtube:

You can report abusive behavior on YouTube content here.

You can also contact YouTube at the address below:

YouTube, LLC
901 Cherry Ave.
San Bruno, CA 94066

Fax: +1 650-253-0001YouTube, LLC
How to Start an Online petition:

You can create an online petition and circulate it to your social media network. The more attention is drawn to a particular situation, the more likely it will be addressed.

FIRST members, Tina and Roger Thomas, the parents of Mui Thomas, affected with harlequin ichthyosis have started a petition to end shock videos on YouTube, using the online platform, This is a powerful example of self-advocacy as well as an appropriate way to engage the community to promote positive change. You’ll find the petition here (please note: No donation is required. Their goal is to increase the number of signatures and the strength of the petition.): Sign here.

Alert the Media:

As a member of the rare disease community, the local media is often interested in telling your story and introducing the surrounding region to your situation. Contact them and tell them the whole story – from living with ichthyosis or a related skin type to how you have been harassed or bullied, to ways that you are hoping the community will get behind you and support your efforts. These stories of activism, advocacy and strength, often catch the attention of the online community as well, and may also help to raise awareness for your rare condition.

Please also refer to FIRST’s Strategies for Bullying Resource Sheet for more information on how to cope with rude behavior and bullying.



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

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?


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.


(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.


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, 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.
Ref; For full interview go to: Targeting Drugs for Rare Disease

Ref; – 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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