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Posts tagged ‘Sjogren-Larsson syndrome’

Medical Experts Present Latest News in Ichthyosis Research #FIRSTNFC


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Collaboration was by far the word-of-the-day, with regard to the current culture of the ichthyosis research community.

During the What’s Up with Research session on Saturday morning, Dr. Leonard Milstone began by calling attention to the precise goals of ichthyosis research: understanding the medical and social issues, discovering ways to intervene to improve outcomes, and to effectively disseminate new knowledge. He also mentioned the critical importance of advocacy groups to stay involved, be a non-negotiable step of the process, and to continue to create opportunities for affected families and doctors to connect and learn from each other. With regard to the current state of research, Dr. Milstone said, “Advances in technology have led to more rapid, more informative, and more precise information and discoveries than imagined even 25 years ago.” Yet, Milstone also noted, “This new technology, which is a direct result of investments in research, is expensive.” And with the research expense rising as government support is decreasing, Milstone further emphasized that large-scale collaborations and private foundations will play an increasingly important role in supporting research.

Interview with Dr. Bill Rizzo

Another key focus of the session was the call for worldwide collaboration. Dr. Bill Rizzo introduced the STAIR Consortium, an international multi-center, collaborative research project focusing on genetic diseases that are caused by defects in Sterol (cholesterol) And IsopRenoid metabolism. The STAIR Consortium was created and funded by the NIH and NCATS. Its goal is to establish the natural history of rare diseases, identify biomarkers for future therapy studies, investigate new treatments, discover new diseases, and to train new physicians/researchers to work on rare diseases. Rizzo, one of the world’s leading researchers of Sjögren-Larsson Syndrome explained, “Access to biological data from as many patients as possible is critical for understanding the disease,” and he further emphasized that the input from patient advocacy groups is a necessary part of this type of collaboration. STAIR is currently working with seven patient advocacy groups worldwide, including FIRST.

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(left to right) Drs. Bob Silverman, Keith Choate, Phil Fleckman, Len Milstone

Dr. Choate provided the conference attendees with an update about the promising progress he and his team at Yale have made on the Gene Discovery Project. He mentioned that the Gene Discovery Project began at the FIRST family conference, in one small room, at the 2010 conference in Orlando, Florida. However since then, the research incurred tremendous growth. Including the 57 families recruited here in Indianapolis, they have recruited 375 total families and, so far, they have been able to determine a genetic diagnosis for 247 of those families. Since the Denver conference in 2012, they have also identified three new genes which cause ichthyosis. Choate also noted that advances in genetic sequencing technology has made genetic diagnoses faster and much less expensive. Of the 247 families who were able to obtain a genetic diagnosis from Dr. Choate and his team, 80% of them were able to get that diagnosis through their “pre-screening” process, which looks at the 11 most common genes that cause ichthyosis. This “pre-screening” test now costs the Yale lab between $30 and $50, which is a huge drop in costs from a decade ago. ”Learning more about the specific genetic causes of ichthyosis will enable future research to develop effective therapeutic pathways for treating ichthyosis,” Choate added.

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Dr. Britt Craiglow with patient, Evan Fasciano

Dr. Brittany Craiglow introduced a prospective evaluation of infants and children with congenital ichthyosis, discussing the importance of further investigation into the relationship of the phenotype (the way a disease presents itself) and genotype (the way a disease is caused)of ichthyosis. Craiglow’s evaluation process predicts that mass observation of infants can assist doctors and families in understanding and preparing for issues in growth and development. Specific medical issues observed include electrolyte disturbances, infections, and possible other medical complications, such as loss or obstruction of hearing or eyesight from birth through early childhood. Again, Craiglow also emphasized the need for a collaborative effort between doctors, patients, and patient advocacy groups so that proper management protocols for these medical issues can be established as efficiently and effectively as possible.

Dr. Phil Fleckman spoke about health related quality of life and patient reported outcomes from enrollees in the Ichthyosis Registry. The registry, which collected data directly from patients from 1994-2004, was a collaboration of the MSAB (Medical & Scientific Advisory Board) and was funded by the NIH. In addition to a clinical diagnosis, this type of doctor-patient collaboration has offered doctors critical regarding the “real life” impact of the disease and opening a window into the day to day physical and emotional challenges that often accompany ichthyosis. He hopes to extend these studies to determine how quality of life changes as participants age, to include those enrolled in Keith Choate’s study, and to add newer ways to assess the impact of ichthyosis on those affected and their families.

Judging by the close, supportive and collaborative nature between our doctors, patients, and FIRST, we are poised for great strides in ichthyosis research.

Few and Far Between


“In the end what I learned is that the story was really not about our differences, it was about our shared connection.” – Meredith Rizzo

Every once in a while, “perfect timing” is more than just an eruption of coincidental moments…it is, in fact, destiny.  At least, that was the case when young photo journalist, Meredith Rizzo, set forth to create her final thesis for a Masters of Arts degree in New Media Photo Journalism from the Corcoran College of Art & Design.

“The assignment for our thesis was to submit a long form body of work,” said Rizzo when describing the very first steps of her journey. “Around that same time, I learned that there would be a FIRST family conference in Denver.  So, I decided to go to the conference and see if I could document someone, affected with ichthyosis.”

Meredith’s father, Dr. William Rizzo, a current member of  FIRST’s Medical & Scientific Advisory Board, is a geneticist specializing in inherited metabolic diseases at the University of Nebraska Medical Center.  He has been researching Sjögren-Larsson Syndrome for the past 25 years.  In fact, Dr. Rizzo is leading a Sjögren-Larsson Syndrome study to gather clinical information about its natural history and search for biomarkers (tests) that can be used to monitor future therapy.

As ichthyosis is one of the symptoms of Sjögren-Larsson Syndrome, the skin disorder itself was not unfamiliar to Rizzo, and in fact, she worked at the research lab with her father for an entire summer as an intern. But, now– as a curious and conscientious journalist– she was interested in hearing about the disorder, directly from the source. She hoped that one of the affected conference attendees would be open to sharing their routine, their challenges, and the bull’s eye of all inquiries: how the diagnosis of ichthyosis has changed their lives.

Chapell-Mia-web3“I met the Chappell’s on the very first day of the conference.  Their daughter Mia not only has ichthyosis, but she has Sjögren-Larsson Syndrome – the very same syndrome my dad has researched for all these years. So it was really great to meet someone whom my dad’s research really has really affected. The disease is so rare, that doesn’t really ever happen.”

As described in Rizzo’s essay:

Sjögren-Larsson Syndrome is a syndrome so rare its incidence is unknown, but doctors estimate around 100 people in the United States live with it. For Mia, neurological impairment associated with the syndrome means that she is still learning to walk, climb stairs, and hold herself upright. Her mental progress is two years behind that of other children her age, and she has ichthyosis: dry, scaly skin– a lifelong condition that will require a daily regimen of scrubbing and lotions.

Rizzo would soon discover that the syndrome itself, may have changed the daily routine and future plans for the Chappell’s and yes, they are learning to deal with the constant  boomerang of ups and downs, but in truth…

the disorder has really nothing to do with… their life.

Fate Takes its Next Cue…

“The Chappell’s were so open to the idea right from the beginning.”

And then fate stepped in again.  The young woman whose father, a gifted geneticist, researching one the rarest syndromes known to man, was being led to use her own gifts and raise awareness for that very same syndrome. “Coincidentally, they live only 45 minutes from me so I was able to really connect with them pretty often over the course of the next ten months.”

Rizzo spent time with Mia in nearly every aspect of her life; at her school, capturing the interaction with classmates; at one of her physical therapy appointments and on a few occasions she even quietly accompanied Mia during her morning and evening skin care regimen, with mom and dad. “Whatever she was doing or wherever they were going when I went to their home, they invited me to come along and document what was happening. I even tagged along on Halloween!”

One particularly painful milestone was the day Mia visited the Orthotic Prosthetic Center, in Fairfax, Virginia, for the very first time. “The photos from the day she went to the doctors and got fitted for her new leg braces really capture some of the medical challenges they are dealing with.”

The story behind the story was beginning to appear.  “It was remarkable how much of their lives they shared with me. But then I realized, I was giving them a chance to talk about their situation, because, so often, they are simply not asked.”

The Universal Lesson…of Love

Ten months later, she had gathered the pages of a story that had become not only a school project, but a mission.

During the final stages, Rizzo reached out to a connection she had made at Corcoran. “A mentor of mine is actually the photo editor for National Geographic Magazine. She introduced me to their graphic designer, who helped to format the whole photo essay.”

Meredith’s desire to tell an untold story and  infuse it with “the energy of the subjects themselves,” was quickly manifesting into a uniquely personal piece of work, combining text, video and photos, and crafting an online photo essay, and e-book, that reflects not only the deep and profoundly human experience of the Chappell family, but of the journalist herself.

“I went into the experience thinking I would write about how the family deals with symptoms, liking itching or immobility. I would reveal how their lives were so different than everybody else. But in the end what I learned is the story was really not about our differences, it was about our shared connection. The story of their lives isn’t about Sjögren-Larsson Syndrome, it’s about a family’s love for their daughter…and that’s universal.”

To view Meredith Rizzo’s entire photo essay visit fewandfarbetween.net, or download the e-book: http://www.fewandfarbetween.net/the-ebook-download/
[photos by Meredith Rizzo]