Skip to content

Archive for October, 2013

A Letter from Our Director: Dear Members, PeDRA Gets It.

Amidst a growing sea of scientific work focused on skin disorders in adults, there is only a limited amount focused on children. In 2012, a group of pediatric dermatologists founded PeDRA, the Pediatric Dermatology Research Alliance, in hopes to better treat and cure dermatologic diseases in infants, children and adolescents. Their mission is to foster collaborative clinical, translational, and basic science research.photo(1) This past weekend, Executive Director Jean Pickford, attended the very first annual PeDRA (Pediatric Dermatology Research Alliance) conference, and is happy to report that there is “no stopping” this dedicated team of doctors, when it comes to finding a cure for ichthyosis. Today, she’d like to share her experience with those whom this remarkable new alliance will mostly affect; our members.

October 23, 2013

Some days in life are predictable. And then, there are the days that greet you with such utter amazement, no matter how you describe it, you will never do it justice. In fact, I happened to have just that type of day last weekend in Chicago at the PeDRA (Pediatric Dermatology Research Alliance) conference. So please allow me to do my best job at sharing the highlights from that meeting. As you read the words, I only hope you can feel even a twinge of the powerful energy I experienced.

Despite missing my early morning flight to Chicago due to another commuter’s rush-hour accident on the highway, I managed to still arrive at the 1st Annual PeDRA Conference, albeit late. The conference was attended by 80 pediatric dermatologists and six patient advocacy groups. The goal of this meeting was to gather the top leaders in pediatric dermatology research in one room to share, develop, and discuss new and innovative research to treat skin disorders. At the top of their list is, gratefully, ichthyosis.

Because of ichthyosis’ rarity, I have become accustomed to attending these types of meetings, and having other more prevalent skin disorders in the forefront. I am usually in the “back of the house” as ichthyosis is typically not a hot topic on the agenda. However, at this meeting, I happily climbed over the rows, and took my place in the front row, as ichthyosis was in fact, in the limelight. Investigators from around the country presented innovative ideas, current research projects, proposed grants, and novel approaches throughout the three-day conference. After each presentation, one thing became very clear – I knew that FIRST was part of something remarkable.

One of the biggest highlights throughout all these discussions was actually feeling the passion of these physician/scientists, as they presented and discussed their work. They are fueled by curiosity; relentless in their research efforts; and simply put – they get it. They understand how important it is to find better treatments and cures —and they really care. They also understand what an important role FIRST plays in their research. Because we have access to patients and a pulse on the most pressing areas of concern, we complement their work in an immeasurable way. It was clearly evident at this meeting that FIRST and the other patient advocacy groups were held in the highest regard.

So what was accomplished? Four major areas of focus were determined, with multiple physician/scientists signing on to various leadership roles. Those projects included:

Neonatal Premature Skin – One group was organized to address the area of neonatal premature skin. This neonatal skin group will work together with neonatologists to develop and test scientifically based barrier formulations aimed both at improving barrier function and promoting its maturation.
Observational Study - A second project was launched to begin a multicenter cooperative prospective observational study, enrolling infants who will receive a genetic diagnosis and be followed on a monthly basis. The goal is to help physicians to better understand who is at risk for complications and allow the development of protocols to better anticipate and manage these complications.
NIH Rare Disease Clinical Research Consortia – A third project focused on a grant that will be submitted to the NIH Rare Diseases Clinical Research Consortia this year. The grant focuses on a multicenter collaborative network that will enroll patients with rare ichthyoses and perform coordinated longitudinal (over the course of time) and pilot (brand new) studies. It will also focus on defining clinical relevant biomarkers (changes found in skin or blood, such as in levels of a specific protein, that mark disease activity) and creating a basis for clinical trials leading to cures.
Inflammatory Ichthyosis – The final project addresses inflammatory ichthyosis and its correlation to atopic dermatitis (eczema) and shared biomarkers that drive inflammation and itching.

PeDRA plans to meet as a full group each year, and I for one, will not miss a moment (and yes, I’m already planning to leave an extra hour early for the airport!). I am very impressed and excited to see how the work develops from this dedicated group of game-changers for ichthyosis. I am proud and privileged to be a part of their efforts.

You can look forward to hearing updates and information from FIRST regarding the progress of PeDRA and of these projects in the future.

Let’s continue to educate, inspire, and connect,

Jean


We Asked. You Answered!

Recently we posted a question on Facebook regarding the best solutions for putting lotion on an infant or toddler with ichthyosis, (so it doesn’t feel  like a wrestling match!) The answers were so remarkably unique, we not only wanted to say thank you for your creativity, but we also wanted to share these helpful tips with the entire FIRST family – particularly those caring for a child with ichthyosis…

  • DVD player and an Elmo movie
  • IPad and we watch music videos on YouTube
  • I sang songs to my daughter. When she got older, we played name that tune. She is in 6th grade now and still asks to play name that tune when she is soaking in the tub.
  • Sing to them! Or let them run around while you chase them and apply their lotion… This gives you both a good workout.
  • Center yourself with deep breaths before and during applications. Be aware of your facial expressions and tone of voice and seek to impart calmness and empathy. If humor is at your finger tips, giggle with your child as she or he squirms. Use a soothing lullaby or music to accompany you. Give your toddler a plastic doll and lotion so they can play at being the one in charge. Give lots of time for open ended play.
  • Let them “help” with a little coconut oil so if it goes in their mouth it’s safe.
  • Try to turn it into a fun game.
  • Make up creaming songs with all the body parts.
    “This is how we cream our tummy….”
  • Give them a toy to hold. Sing a song. Tickle in between rubbing.
  • My husband and I make it a game and have our 23 month old help us out. She’s gotten to the point where she will tell us where to put it on next.
  • If they aren’t light sleepers, while they slumber. Otherwise you need 2 people, one to hold them still, the other to apply. Singing was always a way to improve an arduous task.

Any more tips for “lotion time?”  Contact: Mneville@firstskinfoundation.org

It’s Time to Do Something.

 #itstimetospeak

NIH Budget Cuts, Government Shutdown, and What You Can Do

The recent government shutdown has added yet another layer of challenges to the rare disease research community, as the shutdown includes the federal agency, National Institutes of Health. New research grants aren’t being processed at this time and frustrated researchers are grinning and bearing as their attempts at trying to get funding for their projects, or support for ongoing clinical trials, are on pause.

Hopefully, the shutdown is, at best, a brief blip on the screen – and at worst, a temporary annoyance. Of greater concern is the earlier debt-limit proposal back in August 2011 and the implementation of the “sequester” cuts in early 2013 – a problem that’s not going away any time soon. In fact, under sequestration and the current budget caps, the NIH was cut by $1.7 billion this year and funding for research is scheduled to face another round of cuts in FY14 and beyond.*  

And the cuts have, of course, hacked at our very doorstep.  Dr. Keith Choate, one of our FIRST-funded doctors and member of our Medical & Scientific Advisory Board, and an enthusiastic participant in FIRST conferences in events, mentioned during our regional conference in Mahwah, NJ, that his lab faces significant sequester-related cuts. It’s possible he may lose funding for a grad student in his lab, and with some of his current funding expiring in November, he’s expecting to have to make even further cuts to his lab, which means that he won’t be able to achieve as much as he had hoped.

Dr. Choate’s Gene Discovery Project at Yale has made a huge difference in the lives of many families affected with ichthyosis, and that project has discovered new genes relevant to ichthyosis. Isolating these different genes is important because it means we can tailor treatments and potential cures to specific mutations.  But, now, it’s up to us to be sure every voice is heard and that these doctors are given every possibility to continue their work with as little interruption as possible.

 

So what can you do to help?

 

Take action. Because it is a rare disease, ichthyosis is not well recognized, understood or researched. Increased education of our communities and elected officials will help gain the much needed attention, and hopefully lead to a better quality of life for ichthyosis patients, better treatments, and possibly even a cure.

As members of the NIAMS Coalition, we have been advocating for the following funding levels in the FY14 appropriations bills: $32 billion for the NIH and $541 million specifically for NIAMS, the branch of the NIH that supports skin disease medical research.  FIRST is making every effort to be sure that your voices are heard to those making the decisions that will affect your very future. But we need your help. You are the ones living the unique experience of ichthyosis, and struggling with a skin disorder, for which, currently, there is no cure.  We encourage you to write to your local paper and tell them your story; inform your local district representative or state senator of your situation; expose as much detail about ichthyosis, and how it has affected your life.  (Sample Letter)

 

Not sure who to contact?

House of Representatives’ website: www.house.gov.  Type your zip code into the box in the upper right hand corner to find your representative.

 

State Senate: www.senate.gov. Enter your state to find your senator.

 

The louder we are, the more likely we’ll be heard. Follow #itstimetospeak on Twitter for self advocacy news and information from FIRST.

 

* 2013 AADA Legislative Conference  



Is Ichthyosis Ruining Your Wardrobe?

No matter what type of appearance challenges one may face, there is something we can all agree on – stepping into fresh, clean clothes, that are well fitting and soft to touch, can lift our spirits and boost our confidence.   However, finding those comfy, stylish outfits, and keeping those fabrics clean, can be a real challenge for those affected with ichthyosis.

As many of you know, the daily skin care treatment for ichthyosis requires the use of large amounts of emollients on the skin.  This, of course, is great for the skin, but can be very harsh on many types of  clothing. Not to mention, the beating taken by washers, dryers and, of course, the wallet.

Last week, Moe Wenik hosted a FIRST to Know conference call on this very topic.  The discussion was quite remarkable, as members were more than happy to share their ”trial and error” experiences and offer a host of new tips, information, products and resources. We even created a new “Laundry Care” Resource Sheet  with everything you’ll need to not only find and care for a wardrobe that fits with your personal style, but also…

…with your ichthyosis.

Any other laundry care tips?  Email mneville@firstskinfoundation and let us know!