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“Our Caterpillar Would One Day Be a Butterfly”

We often hear stories from young families who are given the diagnosis of ichthyosis, soon after the birth of their child. Many families are surprised, confused, and often scared. This week we received a story from the Taylor family, sharing not only how they coped with the initial news that their baby Brooklyn, now three months old, was born with lamellar ichthyosis, but how they are finding their strength in Brooklyn herself.
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Brooklyn Taylor was born as a collodion baby in October of 2013 at Fauquier Hospital in IMG_20131107_195144Warrenton, Virginia. We had no knowledge of this beforehand and our oldest child had no signs of ichthyosis, so seeing Brooklyn like that was very scary for us. She was full-term and appeared very healthy, but when they took her from my arms I thought the worst and prepared myself to hear that she wasn’t going to make it. Hours after she was born they transferred her to a more equipped hospital.

She spent nine long days in the NICU ward at University of Virginia in Charlottesville. Doctors came and went and we were told the worst, but we knew that our little caterpillar one day would become a beautiful butterfly. Her skin appeared as if she had been burned and it was so tight that it pulled her mouth and eyes open until they were flipping outwards. We were afraid that she wouldn’t be able to eat on her own due to the complications of her closing her mouth, but Brooklyn didn’t give up. With help from a wonderful lactation specialist she latched on, but later we realized it was less stressful to just bottle feed.

A doctor suggested that we go ahead and do a skin graphic surgery on her eyes to help them close. We begged him to wait until the hard shell came off so we could see if maybe it would fix itself. Weeks after coming home, the membrane fell off and within days Brooklyn was closing her eyes on her own. We went to a follow-up appointment with the doctor and when he saw her he could not believe his eyes.

IMG_20131204_120251 Later that month we were told by her dermatologist that she had lamellar ichthyosis. We were overjoyed to finally have a name to put with the condition, but reading about lamellar was probably the hardest thing for us to do. Of course the pictures and information were very helpful, but they didn’t give us any hope. Later we saw that the hope we were looking for was right there in Brooklyn. From day one, she has showed us to never give up and that she doesn’t need to be healed, but accepted for who she is and how she is – beautiful inside and out.

Three months have passed and we are still learning about her condition and finding out what works for us. Bath time may be long and straining, but Brooklyn seems to enjoy it and she sure does remind us when its time for it. She is a very happy and demanding baby and every day is a challenge, but she loves having all the attention. Other than that, she is a normal child to us and should be treated as one by others. We are so proud of our beautiful little girl and because of her everyone can see what real beauty looks like.


Conference, Connections & Life Changing Moments

 


There is no greater way to express the life changing moments that occur for members at our Family Conference, than to invite you into one of those very moments. Board member and FIRST advocate Tracie Pretak has had gained enormous benefit from attending the conference, but there is one special moment she’d like to share, that stands out a bit more than the rest.

Not sure if you should attend the conference? Consider this:Twenty-six years ago, I had a two-year old daughter with Lamellar Ichthyosis (LI) and we attended our first FIRST conference and our lives would never be the same. Meeting others who understood, who’d gone through what we were going through, and grew up to be successful and happy was overwhelming!

Jim & Bailey, FIRST Family Conference 2012

Jim & Bailey, FIRST Family Conference 2012

One man I met, Jim, totally changed my thoughts on how to raise Bailey. You see, Jim, who also has LI, told me that he ran cross-country in high school. That blew my mind…because with LI, Jim can quickly overheat.  He said his parents let him try it and found a safe way for him to do it (people would stand along the route and throw buckets of water on him!). He said they tried to give him as normal a life as possible. And so…I did that with Bailey. And when she wanted to dance, on a hot stage under hot lights, I thought of Jim…and I said yes! We took precautions and trained the dance teacher and stage crew on how to prevent and treat heat stroke.

Bailey not only excelled at dancing, she continues to grace the stage at our annual recital. Plus she now is teaching a new generation of little dancers. I’m not sure any of this would have happened, if we hadn’t met Jim.

Fast forward to last year’s conference. We had not been to one in awhile, but decided to go and encourage other families, kids, and teens affected with ichthyosis. On the first day, we walked into the meeting room and who did we see? Jim! Unbelievable! We hadn’t seen him in 24 years! It was so amazing for Bailey to meet the man that “let her dance!” I felt like everything came full circle in that moment.

We were there to offer to others what he gave to us…HOPE. We learned that Jim has actually run a marathon! What an inspiration! It was so amazing to watch Bailey throughout the conference that weekend. I have never seen her so self-assured, so confident. It was worth every penny spent to see her smile; to see her be so open; to see her inspiring the kids and teens and parents and grandparents!   It was such an amazing weekend of connecting that I don’t think we will ever miss another one.

Come to Indiana…we want to meet YOU!!! – Tracie

Different is Beautiful.

 

It was truly amazing to see the response from our members and followers to the TinySuperheroes T-shirt promotion, created in honor of their one year anniversary, and also in honor of their very first cape recipient, FIRST member Brenna Westlake.

“In just five days 75 t-shirts have been ordered! In my mind, a total of 100 for the month was the original estimate,” said an excited Robyn Rosenberger, founder of TinySuperheroes. “Luckily the t-shirts are print-on-demand, so bring it on!”

If you are a fan of our Facebook page, you’ve already seen the uplifting phrase splashed across the front of the shirt, “Be Super in the Skin You’re In, Different is Beautiful.” It is as simple as it is powerful, and is striking the most resounding chord with our audience.

In fact, it seems this message has satisfied a craving; a desire for the opportunity to project one’s own voFB6ice, speak one’s mind, and be a part of something that is inspiring such a profound change in perception. It got us thinking how important it is for people to feel like they are not helpless; that they themselves possess the deepest potential for transformation.

And although it has only been a few days, we have already witnessed the transformation ourselves. As these individual voices of courage join forces, together, they are becoming as strong as the most powerful of choirs. Different is Beautiful.

Purchase t-shirt here:
TinySuperheroes


 

A Passion for Patients

 


As many of you know, FIRST is closely affiliated with a team of unique medical professionals, from universities and hospitals around the world, who are dedicated to the research of ichthyosis.  Not only does their dedication and commitment offer our community a ray of hope for a better tomorrow, but in turn we have the opportunity to provide them with patient insights, research grants and the emotional support necessary to continue their quest for better treatments, and an eventual cure for ichthyosis. We reap the rewards, every single day, of embracing a “one team” culture with this remarkable group of physicians. 

In fact, on November 20 of this year, FIRST had the good fortune and rare opportunity to meet with the entire Yale University ichthyosis research team, face-to-face, as they shared their special “patient first” philosophy, their passion for combining multi-disciplinary scientific discovery with real-world patient treatments, (a field known as translational medicine), and what these doctors envision is possible for the future of ichthyosis research.

Rita Tanis, Evan Fasciano

Rita Tanis, Evan Fasciano

One of the goals of the visit to Yale was to video tape individual interviews that FIRST could use in various presentations, either to solicit a new donor, enlighten our current members, or engage others who are not familiar with the ichthyoses. The video “campaign” would introduce the disorder of ichthyosis, the doctors spearheading the field of ichthyosis research, and the idea that their support will bring these doctors that much closer to better treatments – and perhaps even these advances in research would have an effect on other diseases as well.

As the day unfolded, it was quickly evident that these doctors, Dr. Leonard Milstone, Dr. Keith Choate, Dr. Brittany Craiglow, and Dr. Christopher Bunick, who are all approaching the same disease from differing angles, were inspired by the exact same component of the field of medical research: the patients.

When asked about his decision to go into the field of ichthyosis research, Dr. Keith Choate shared not only a profound story of clinician and patient interaction, but his exact moment of certainty-his very first time meeting an ichthyosis patient in Dr. Mary Williams’ clinic, one of founding physicians of FIRST. Although his initial reaction was that ichthyosis presented itself rather mildly, the next moment of his life would carve the pathway for his entire career. “As she took the layers of make-up off, she began to cry. It was clear that this woman was severely affected. And that ichthyosis was affecting this patient’s life in a fundamental way. She felt ashamed and I could see that,” he said.  “People talk about scientific epiphanies and the moment of knowing. I knew right then that this was important work, and that this was exactly what I wanted to do – research in ichthyosis.”

Dr. Brittany Craiglow, initially entering medical school with the intent of becoming a child psychiatrist, discovered during a volunteer mission at Camp Discovery, a specialized sleep-away camp for kids with skin disorders, that a physician-scientist track in dermatology might better suit her desire to connect and care for families and children. “When you’re a kid and you’re sick and everyone else can see it, it’s right there on your skin, it adds a whole other element. So it’s important to treat not just the condition, but the whole person. I love my job because I can do just that. I love building relationships with patients and, at the end of the day I just want to be a good doctor for them.”

The physician-scientist possesses the capacity to envision the entire process – a mastery of biotechnology as well as a passion for face-to-face interaction and treatment of patients and families.  As we stood in Keith Choate’s laboratory, surrounded by cameras, lights, and an audio boom, we were overwhelmed by the feeling of privilege; after all, we were among this unique breed of four passionate physician-scientists as they discussed the latest computer programs for genetic sequencing, the electron-micrograph, the Yale Center for Genome Analysis, and with equal enthusiasm, interacted with their patients and families right down the hall.

Dr. Leonard Milstone, a veteran doctor in the field, was as energized and excited as any new doctor entering the field of ichthyosis research today.  Not only does he bear an obvious warmth and affection for his patients, two of whom had joined us for the day, but he possesses a truly remarkable willingness to support and mentor the progress of the next generation of ichthyosis scientists in any possible way.  “It’s like the perfect storm. It is so very rare to have three young people at the same place with interest in the same rare diseases, each contributing  complementary expertise to help these patients,” he said with regard to Drs. Choate, Craiglow, and Bunick. “Plus, we have an unusually large and devoted group of ichthyosis patients, and the environment at Yale provides unique opportunities for these collaborations to flourish:  a Genome Center that has a special interest in rare diseases; an outstanding group of structural biologists; a high throughput screening facility, and a group of additional young skin scientists who utilize the latest technologies to understand skin disease.   And the final critical component is FIRST, a remarkably effective organization that grabs your attention and makes you want to do more while supporting each of us emotionally in terms of encouragement for the science and the clinical work that we do.”

Dr. Keith Choate Dr. Britt Craiglow

Dr. Keith Choate
Dr. Britt Craiglow

The doctors all agreed that medical research itself is advancing at lightning speed. “Questions that would have taken decades to answer, or thought impossible to answer, now may take only a few years, or even months,” added Milstone.   An equally enthusiastic Dr. Choate, with regard to the speed of medical advancement, offered his own vision of what may be not too far down the road. “What I see and hope for the future is a post-genomics era. Genomics is the key that unlocked the door for us and opened the possibility of identifying all the genetic mutations of ichthyosis of all types. We now have the information and are using it with next level biology such as high-throughput chemical screening, identifying natural compounds, synthesizing compounds, and creating new medicines to treat these disorders. We are leveraging genetic insights to make a difference in patient’s lives.”

Dr. Chris Bunick

Included in our physician-scientist interviews was Dr. Chris Bunick, a unique physician-scientist among dermatologists because of his application of x-ray crystallography to the field of dermatology research.  Dr. Bunick brought an even more expansive view to the notion of what can scientifically be achieved to help patients.  “X-ray crystallography technology enables determination of a 3-D image of what a protein looks like in living cells, therefore I am able to see the structures of the proteins that make up the skin barrier.  This technology is going to greatly improve our understanding of the science behind skin function,” he explained.  When asked about his futuristic vision, Bunick stated, “What I imagine is creating a niche of dermatology research, “molecular dermatology” so to speak, and one by one, determining 3-D structures of proteins highly relevant to normal and diseased skin.  I am in a position to identify and to tackle many disorders in the field of dermatology from this structural perspective, and my hope would be translation of this work into new classes of topical therapeutics to help patients with skin disorders.”

The importance of research funding was another topic that continuously surfaced throughout the day, and it is clearly encircling the thoughts of these physicians, day to day, as well. “But it’s only my two hands and we need more funding and more scientists working together to achieve this,” Bunick added.

But it was the words (or lack thereof), offered by the patients themselves, with regards to their experience with this team of Yale physician-scientists, that illustrated the results from long hours in the lab and the tireless years of dedication, in the most meaningful way.  “There really are no words for what they have done for me; they saved my child’s life. They knew exactly what Evan needed and exactly what to do, and if they weren’t there by our side, there’s a good chance Evan would not be here today,” remarked an emotional Dianne Fasciano, as she spoke about the days following the birth of her now 3-year old son Evan Fasciano, affected with Harlequin ichthyosis. “I have the best doctors in the world, and they are on it, always ready to help at a moment’s notice. I am so lucky.”

Rita Tanis, a middle-aged woman affected with lamellar ichthyosis, also spoke of her unique kinship with the doctors at Yale. “I have seen many doctors over my lifetime. But these doctors here, they really get it.  And they have real empathy. There is no need to keep explaining it to them, as they really understand the condition in a way no one else ever did. Now there is so much hope for better treatments, and even for that big, big word that we’re not supposed to talk about, a cure. It feels like it is right there in front of us. It’s palpable.”

Our day at Yale inspired many new stories for FIRST to share with members, supporters, the media, and the world. In upcoming months, we look forward to bringing you more articles and videos discussing our powerful advocate-doctor relationships, our collective vision for the future and more details about the cutting-edge research being conducted in both lab and clinical settings for ichthyosis research.

 


A Qualitative View of Lamellar Ichthyosis

Nearly nine months ago Galderma, a pharmaceutical company exclusively focused on dermatology, approached FIRST to collaborate on a unique project involving online qualitative research with volunteer members affected with lamellar ichthyosis. The volunteers would be required to fulfill a two week commitment of answering survey questions, and participating as members of a virtual community focused on lamellar ichthyosis research. Although an intriguing idea with tremendous potential, it was also new territory for FIRST. Along with that came some uncertainly as to who might participate, what the level of commitment might be for each participant, and the consideration of how this endeavor might be of benefit to the FIRST community.

Today, FIRST is excited to share the news that not only was the enthusiasm and commitment of our participant members entirely overwhelming, with over 20 volunteer participants, but the outcome from a carefully developed selection of questions, produced a unique and comprehensive overview of life for parents and affected individuals with lamellar ichthyosis.

The survey itself was positioned to gain an in-depth understanding of the experience of the condition of lamellar ichthyosis and its impact on patients’ and parents’ lives. Many of the questions focused on how the symptoms of the disease have impacted the quality of their lives, how living with ichthyosis evolves over time, and how and when the disease was first diagnosed. Additionally the survey hoped to gain a clear view of potential treatment patterns based on patient characteristics and patients’ treatment history.

When the two week online community came to a close, it was clear to see that trends within the life experience of the participants had percolated. The initial goals were achieved by Galderma, and they had now gathered the qualitative study they had projected, giving them a more holistic view of living with lamellar ichthyosis. We are happy to share with you the collective results in Lamellar ichthyosis, a qualitative survey in the US and Europe.”  We thank all who participated and remind you that the willingness to share your experience will make a difference in the lives of so many.


You are not Alone.

 

It is the season of reflection; a time to pause and embrace all of the lessons, gifts, and opportunities the past year has brought into our lives, and into the lives of those around us.

And it never ceases to amaze us here at the FIRST office, how many lives are affected, changed, or have even been transformed, when affected members find solace in the experience of another affected member. Perhaps it’s just the simple knowing that someone out there is listening, and at a very deep level, truly understands your situation. 

Social media is making that possible every single day.  Members are seeing the value in engaging in daily conversation with those who walk in the very same shoes. In fact, without these online social groups, many people have never had the opportunity to connect with anyone else that has ichthyosis. 

Sometimes the discussion focuses on a unique issue, like starting a new relationship, or dealing with the social difficulties brought on by skin shedding, or alopecia  – or maybe its a topic that most feel uncomfortable discussing, like how to inform co-workers of your skin condition, or meeting  a roomate for the very first time. (A FIRST staff member oversees conversations in each group, and if there are questions or concerns that arise that require our input, we are more than glad to join the discussion.)  Other times, social media groups offer a simple way to check in and say “Hello, I’m here and glad you are too,” or to post a photo of something spectacular; a simple connection that warms the often icy feelings of struggling with ichthyosis all alone.

At this time of Thanksgiving, we are grateful that so many people have discovered the many valuable resources available at FIRST. It is very validating to our staff, board, and volunteers, and continues to assure us that we are involved in a mission that is making a real difference in the lives of others. 

But there’s something more.

We’re so delighted that so many of you are bravely answering the call to not only educate and inform yourselves as much as possible, but to share your experiences, your thoughts, and your personal stories of living with ichthyosis, with those who have reached out and expressed the need for connection. Please accept our bottomless thank you for reaching back.

If you haven’t done so already, we encourage you to find a FIRST Facebook group that speaks to your particular stage in life.  FIRST Facebook groups include: Adults with IchthyosisYoung Adults with Ichthyosis (18-30), Parents of Children with Ichthyosis, or Teens with Ichthyosis - and they are all currently accepting members. Additionally, we are excited to share the news that these groups have been engaging in spirited and supportive conversations daily, since the very first day they were created.  

So join the conversation, meet some friends, and, hopefully, gain some much needed support, tips, and information along the way.

Have a safe and happy holiday!

 

Topical Tazarotene for the Treatment of Ectropion in Ichthyosis

 

Many individuals affected with ichthyosis cite ectropion – an abnormal eversion of eyelids – as one of the most cosmetically displeasing aspects of their skin disorder. And although ectropion almost universally improves beyond the neonatal period, it can persist throughout life and medical consequences including keratitis,* conjunctivitis,* and epiphora* can ensue.

“Patients with ectropion usually try several different types of drops, creams and even surgery, with varying results,” says Dr. Brittany Craiglow. “Surgery can be a risky option, with a high rate of recurrence, or cosmetic results that are unsatisfactory. After our recent findings we are encouraging doctors to try less invasive alternatives, like topical tazarotene and other topical retinoids, as another potential treatment option.”

Dr. Craiglow, a former FIRST ichthyosis fellow and now an instructor of Dermatology at Yale, is the newest member of a team that includes Dr. Leonard Milstone, Chairperson of FIRST’s Medical and Scientific Advisory Board, and FIRST-funded researcher Dr. Keith Choate. This group is working to gain a better understanding of the genetic mutations that cause ichthyosis and to develop better treatments for ichthyosis. They have used topical retinoids on the lids of many ichthyosis patients and recently reported their experience treating a 77-year old woman with autosomal recessive congenital ichthyosis and long-standing bilateral lower eyelid ectropion. The observations were published at JAMA Dermatology Network.  An abstract of their observations is as follows:

Importance: Ectropion is a complication of certain subtypes of ichthyosis and is often associated with substantial medical and cosmetic consequences.  At present there is no standard of care for the treatment of ectropion in this population. Retinoids cause dyshesion and thinning of stratum corneum, thereby reducing hyperkeratosis that likely underlies ectropion in patients with ichthyosis.  As such, retinoids provide a potential effective treatment for ectropion in this group of patients.

Observation: We describe a patient with recessive ichthyosis for whom daily application of topical tazarotene produced rapid and persistent improvement of bilateral lower eyelid ectropion without adverse effects.

Conclusions and Relevance: Additional studies will be necessary to more fully and systematically address the safety and efficacy of topical retinoids for the treatment of ectropion in patients with ichthyosis; however, this case illustrates that topical tazarotene and other retinoids provide a potential treatment option for ectropion in this population.  We encourage clinicians to explore medical therapies as alternatives to surgical intervention for the treatment of ectropion in patients with ichthyosis.

Dr. Craiglow also noted, “It’s a good idea to start out slowly, as topical retinoids have the potential to be irritating. Patients can try the retinoid on one eyelid and compare it to the other to see whether or not it is effective” Dr. Craiglow also stated, “It is very important that this treatment be done under close supervision of a knowledgeable physician.”

FIRST will provide updates to this clinical study, as they occur.

Brittany G. Craiglow, MD; Keith A. Choate, MD, PhD; Leonard M. Milstone, MD
JAMA Dermatol. 2013;149(5):598-600. doi:10.1001/jamadermatol.2013.239.

 


*keratitis def: inflammation of the cornea — the clear, dome-shaped tissue on the front of your eye that covers the pupil and iris. Ref. www.mayclinic.com
*Conjunctivitis def: Pink eye. An inflammation or infection of the transparent membrane (conjunctiva) that lines your eyelid and covers the white part of your eyeball.
*epiphora:def: watery eyes. Ref. www.mayoclinic.com

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