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.
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.”
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.