Fall 2014

The Path To A Resilient Character By Elyse Elconin-Goldberg

“Resilience is the capacity to respond to pressures and tragedies quickly, adaptively and effectively,” shared Isabel Stenzel Byrnes, MSW, MPH, during her inspirational presentation, “A Resilient Character: Adapting Well to Changes In Our CF,” at the 27th National Cystic Fibrosis Family Education Conference. Isabel, a 41-yearold social worker with cystic fibrosis (CF) who had a double lung transplant 10 years ago, emphasized the important role that resilience plays in adapting to changes that develop when living with CF, noting, “Change is inevitable, but how one reacts to that change has a significant impact on the emotional well being of every individual.” When living with CF, shared Isabel, we must ask ourselves how we can react to change in a healthier and more resilient way. “How can resilience be fostered within ourselves and in families coping with CF?” Thanks to neuroplasticity, our brains are capable of re-wiring how we respond to

stress. “Opening to possibility,” a favorite saying of Isabel’s, suggests having a a more positive attitude, versus being stuck in the negative. When we are faced with adversity, as those living with CF frequently are, Isabel suggested that we ask ourselves if our responses to stressors are working for or against us. Isabel quoted Linda Graham, MFT, who writes about the “5 C’s” of coping with change: “Calm (keep calm and carry on); Clarity (having perspective); Isabel Stenzel Byrnes, MSW, MPH Connection (finding a network); Competence (I did, so I can!); vulnerability, hope (optimism), and social and Courage (do one new thing a day).” support (being understood). She cited a 2014 study conducted with teens with CF, Isabel stated that in CF, there are three Continued on page 4 things required for resilience: emotional

CFRI ~ Research for Living ~ Partners for Life By Beate Illek, PhD For almost 40 years, CFRI’s investment in new ideas has enabled clinicians and researchers at Children’s Hospital Oakland Research Institute (CHORI) to gain new insights for the treatment of CF. I first learned of CFRI as a visiting scholar from Germany in Dr. Terry Machen’s laboratory at UC Berkeley, where I developed my interest in CF research. CFRI’s support of a vibrant CF research community had an enormous impact on my education and training as a post-doctoral researcher. CFRI provided a local network that facilitated the formation of successful collaborations, the establishment of a CF research laboratory at CHORI, and the achievement of basic Beate Illek, PhD

research findings throughout my entire career. CFRI’s support of research – both directly and indirectly – has been vital to our scientific success and has resulted in many peer-reviewed publications involving electrophysiological experiments that were carried out in my laboratory. These contributions include key discoveries that pioneered the regulation of the CFTR chloride channel in airway epithelial cells and its conductivity to bicarbonate and other anions. The early discovery of genistein as an activator of mutant G551D CFTR in CF patients was made at CHORI, and paved the way for a new drug treatment of the Continued on page 18

CFRI Community Fall 2014

Editorial Chief Sue Landgraf

Editors & Writers

Bridget Barnes Siri Vaeth Dunn, MSW

Contributing Writers Darlene Batchelder Linda Burks, EdD Mary Convento Meg Dvorak, LCSW Elyse Elconin-Goldberg Eric Frisbee Bill Hult Beate Illek, PhD Sue Landgraf Anna Modlin, MA

Layout and Design

Marina Michaelian Ward

Photography Craig Burleigh

Board of Directors

Bill Hult, President Jessica Martens, Vice President Mike Roanhaus, Secretary Oscar Flamenco, CPA, Treasurer Francine Bion Elyse Elconin-Goldberg Ann Jones Doug Modlin Kristin Shelton, RRT

Executive Director Sue Landgraf

Director of Programs and Operations David Soohoo

Program and Outreach Coordinator

Notes from the Executive Director Dear Friends, As I write to you, I am sitting in my office, reflecting on the meaningful connections made with our CF community last summer. The busy days of our powerful “Zen” Teen & Adult Retreat and 27th National Cystic Fibrosis Family Education Conference, “The Changing Faces of Cystic Fibrosis: Inspiring Hope,” left us with the joy of camaraderie and a wealth of information from our excellent presenters.

Looking at the brilliant prayer flags encircling my office, handmade by individuals in our community who loved and lost someone with CF, I am reminded of the urgent need to expand our programs. To that end, I am honored to announce the extraordinarily generous gift of $105,000 to CFRI’s 2015 Cystic Fibrosis Research Challenge Circle by Suzanne Freiley, in memory of her niece, Jessica Fredrick, who lost her battle with CF this year at the age of 21. Ms. Freiley hopes that her gift, which was made possible by a one-time double matching gift program from Lam Research, and constitutes the largest single individual donation in CFRI’s history, will inspire others to give generously to fund CF research and support. We are honored that Ms. Fredrick’s family would pay tribute to her by helping to seek a cure for others. More details will be presented in the next edition of CFRI Community. CFRI is in this together with you – as we have been for nearly 40 years. We are experiencing an exciting and hopeful time, as those with the double Delta F508 mutation are on the brink of receiving medications that address the basic underlying cause of the disease. Our new tagline, “Research for Living ~ Partners for Life,” reminds us that CFRI stands for hope and longevity; daily, and into the future.

S CF Chef S

Warmly,

Mary Convento

Resource Development Associate Siri Vaeth Dunn, MSW

Resource Development Assistant

Sue Landgraf | Executive Director and mother of an adult daughter with CF

Scott Wakefield

Partnership with AbbVie a recipe for success! Thanks to all who contributed recipes. We will share the final results from this exciting project in the next CFRI Community.

News from the Board

CFRI Community is published and distributed to friends of CFRI for free. Send address corrections and other correspondence to CFRI: 1731 Embarcadero Road, Suite 210 Palo Alto, CA 94303 Phone: Toll Free 1.855.cfri.now (1.855.237.4669) Fax: 650.404.9981 Email: [email protected] Website: www.cfri.org

Dear CFRI Community, The CFRI Board of Directors is pleased to share that our CF Research Challenge has been met! Thanks to our generous CF Research Challenge Circle donors who gifted $75,000 to match designated donations dollar for dollar, we raised $150,000 to fund three additional CF research projects for 2014/2015! Our many thanks to the CF Research Challenge Circle co-chairs, Paul Quinton, a preeminent CF researcher living with CF, and Jim and Barbara Curry, longtime friends of CFRI and grandparents to Cameron, who has CF. Our

With our permission, you may reproduce original information from this newsletter with credits to CFRI Community and the author.

Bill Hult, President

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Sue Landgraf, Executive Director

These programs strengthened our commitment to increase funding for CF researchers to keep scientists committed to the search for a cure, while we expand the breadth of our educational programs. We must reach more people touched by CF, including families of the newly diagnosed and young children, non-English speaking families, and individuals in need of psychosocial support. We are initiating new programs, while investigating ways to effectively bring vital information about this challenging disease to those who need it the most.

Continued on page 3

cfri | Fall 2014

New CF Drugs Advance Hope and Quality of Life for Patients and Their Families By Bridget Barnes

“The pipeline holds more promise than ever,” declared Dr. Ahmet Uluer, referring to the progress of new therapies for the treatment of cystic fibrosis (CF). In his presentation at this summer’s Cystic Fibrosis Family Education Conference, “Cystic Fibrosis Drug Pipeline: Past, Present and Future,” Dr. Uluer, Director of the Adult Cystic Fibrosis

Program at the Boston Children’s and Brigham and Women’s Hospital CF Center, and Assistant Professor of Medicine at Harvard University, covered many of the existing and potential treatments that modulate the dysfunctional CFTR protein responsible for CF, restore airway surface liquid, alter mucus, target inflammation, treat infection, and augment nutrition. Advances in the understanding of the disease and the development of these new therapies have led to improved quality of life and life expectancy for those living with CF. “The combined efforts of organizations such as CFRI, the Cystic Fibrosis Foundation, and many individuals have contributed to this growing knowledge base and are helping to develop the next generation of CF therapies,” Dr. Uluer elaborated. New therapies for this multiorgan disease that affects the lungs, colon, sweat glands, pancreas, bone, and efferent ducts must go through multiphase drug trials to assess both safety and efficacy before being approved by the US Food and Drug Administration (FDA), a process that takes 6 to 18 years, explained Dr. Uluer.

Dr. Ahmet Uluer sharing updates on the CF Drug Pipeline.

News from the Board Continued from page 2

deepest gratitude to the CF Research Circle donors listed on page 19. CFRI is certainly living our tagline, Research for Living ~ Partners for Life, through a vigorous focus on funding research and working with the CF medical community to ensure access to the most current CF medical/healthcare news and protocols. To that end, we are honored to announce the formation of our new Medical Advisory Board, comprised of some of the most

cfri | Fall 2014

While reviewing the “cycle of inflammation and infection”

esteemed members of our medical and research community. Please go to page 6 for a list of the Advisory Board’s prestigious members. We are honored by their participation and support.

which causes CF lung disease, Dr. Uluer highlighted several available drugs that are significantly improving the quality of life for those with CF. They include aquaDEKs® and improved enzymes for good nutrition, inhaled TOBI®, azithromycin, Cayston®, and TIP (tobramycin inhaled powder) for fighting infection, ibuprofen for reducing inflammation, Pulmozyme® for liquefying mucus, hypertonic saline to restore airway surface liquid, and Kalydeco® for CFTR modulation. In addition, a drug application for Liprotamase, a pancreatic enzyme that improves fat absorption, is under FDA review, while numerous promising trials for other drugs are underway. For medications that target bacteria associated with worsening lung disease, a 24-week extension study of inhaled Levofloxacin in CF patients with chronic Pseudomonas aeruginosa showed prolonged improvement in lung function and quality of life. In addition, interim analysis of a long-term study of Arikace (inhaled Amikacin) in patients with Pseudomonas also appears to show longterm improvement in FEV1. “As with Pseudomonas, we need studies on how to eradicate MRSA,” Dr. Uluer stated. AeroVanc®, an inhaled dry-powder addressing persistent Methicillin-resistant Staphylococcus aureus (MRSA) is currently in Phase 2 clinical trials and shows a reduction in MRSA colonies and improved FEV1. Final results from this study will be available in 2015. Continued on page 4

CF community at Smart Patients is growing and includes parents and young adults affected by CF. The CFRI Board invites you to join at www.smartpatients.com/ cfri and become part of an even larger CF community.

We are your partners for life, and want to provide you with resources that will help on this journey with CF. CFRI now has an Peace and good health, online community for CF patients and caregivers! Smart Patients is where patients and caregivers affected by complex illnesses learn from each other about treatments, challenges, and shared experiences. The Bill Hult | Board President

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New CF Drugs Advance Hope

levels. Incredible!” Vertex is planning to submit an application to the FDA for review, with possible approval in 2015. 

Continued from page 3

Anti-inflammatories Alpha 1 Anti-Trypsin and KB001-A are both in Phase 2 trials and appear to “clean up the cascade of infection and mucus build up caused by the secretion of neutrophils,” Dr. Uluer reported. Bronchitol (inhaled Mannitol) helps clear mucus in the lungs by restoring surface liquid in the airways. While approved in Europe and other countries, it awaits approval in the U.S. CFTR modulators are potentially the most effective, as they target the underlying causes of cystic fibrosis rather than the symptoms. One of these, Ataluren, addresses “nonsense” mutations, and as of August 2014, CF patients are being recruited for a redesigned Phase 3 trial. Another potential treatment, developed by Vertex Pharmaceuticals, is Kalydeco® combined with Lumacaftor (VX-809) for people with two copies of the Delta F508

A Resilient Character

Continued from front cover

in which their perceived stress was low and correlated with higher resilience, in contrast to a non-CF teenage population. The resiliency of the teens with CF was attributed to their accelerated maturity, taking of responsibility, acceptance of prognosis, regaining of control, redefining normality, social support, and problemsolving skills. Reflecting on her own experiences growing up, Isabel shared how her parents fostered resilience in her identical twin sister, Ana, and herself. With age came changes in the level of responsibility their parents expected of them. As Isabel and Ana transitioned from childhood to young adulthood, responsibilities such as learning to wash the dishes were accompanied by taking over cleaning and disinfecting their nebulizers. Learning to drive became an opportunity to drive themselves to medical appointments. Isabel shared study results that identified key factors influencing resilience in children, including a secure attachment to their parent/caregiver, their children’s internal make-up, self-calming abilities, positive emotions, a positive family environment, an external support system, and a sense of control and mastery.

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For people with one copy of the Delta F508 mutation, Dr. Uluer imparted recent news that the Kalydeco®/Lumacaftor combination did not demonstrate a significant improvement in lung function. Dr. Uluer went on to say that Phase 2 data of Kalydeco® in combination with VX-661 “looks promising for homozygotes with a Delta F508 mutation and might be effective for Delta F508 heterozygotes using higher doses, but still has a way to go.” Dr. Uluer and Paul Quinton, PhD

mutation. Phase 3 clinical trials for this combination were recently completed, and showed significant improvement in lung function and other key measures of health and, as noted by Dr. Uluer, “there was a clinically significant drop in sweat chloride

In addition to the promise of new discoveries, Dr. Uluer reiterated, “We must continue to develop therapies and strategies to deliver current treatments more efficaciously.” Concluding, he shared important advice from his 70 and 80-year-old patients on keys to staying healthy: “Good luck, exercise, and fill your life with happiness.”

Both Ana and Isabel were hospitalized frequently throughout their lives. Isabel detailed how she and Ana always tried to find a mental outlet, whether in or out of the hospital, to express their emotions while dealing with the daily challenges of living with CF. This included drawing, painting, photography, and writing. As her disease progressed, Isabel discovered that, “advanced disease was uninvited, but became an opportunity.” This opportunity presented itself in the form of therapeutic narrative writing. Isabel shared that through writing and telling her story, her resilience grew, noting, “Writing is a way to link the right and left brain’s responses to challenges, and fosters self-awareness, insights into behavior, understanding of others’ struggles, and a sense of one’s own growth. Additionally, sharing one’s writing fosters reciprocity, empathy and a special kind of intimacy.” Isabel became a character in her own dramatic life story: both Isabel and Ana received double lung transplants, which Isabel shared was the “ultimate redemption and reward.” In 2013, Isabel’s strength and resiliency were put to the test with the loss of her sister Ana. In honoring Ana and her memory, Isabel continues to share

Isabel Stenzel Byrnes at the Transplant Games

their journey of living with CF, and the challenges and opportunities it presents. Change in the life of a person living with CF is a given, but how one faces those changes is up to the individual. Isabel’s insights on resiliency exemplified courage, tenderness, sadness, and loss, and also her triumph as a survivor.

cfri | Fall 2014

Cystic Fibrosis and Cancer: The Need for Awareness and Screening By Siri Vaeth Dunn, MSW

While very limited research has been conducted on cancer in cystic fibrosis patients due to the small numbers involved, Dr. Van Loon shared the results of a 2012 study which analyzed data from over 41,000 cystic fibrosis patients followed at U.S. CF centers between 1990 and 2009 and concluded that, “CF patients have an increased risk of digestive tract cancers – including esophago-gastric, biliary tract, small bowel, and colon cancers – compared to the general U.S. population.” The study also reported that CF patients demonstrated an increased risk of testicular cancer and lymphoid leukemia, but a decreased risk of melanoma. Dr. Van Loon noted that, “the increased risk for digestive tract cancers was most pronounced in patients who had previously undergone lung transplantation, Dr. Katherine Van Loon is studying the incidence and implications of with most cancers gastrointestinal cancer in those with CF. arising in the bowel.” Be Done,” at CFRI’s 27th National Cystic While colonoscopies to screen for preFibrosis Family Education Conference, cancerous polyps are recommended for Katherine Van Loon, MD, MPH, Assistant the general population beginning at the Clinical Professor and clinician at the age of 50, Dr. Van Loon expressed concern Helen Diller Family Comprehensive Cancer that this may be too late for patients with Center at the University of California, San Francisco, raised awareness of a significant cystic fibrosis. Dr. Van Loon noted that a literature review “identified multiple health issue for those with CF. Dr. Van cases of colon cancer diagnosed in CF Loon discussed the increased risk for patients between the ages of 13 and 45, cancers of the digestive tract in patients suggesting that this patient population with CF, and the need to assess whether may be at risk from a much earlier age.” new screening protocols should be She also discussed a study of over 28,000 implemented for this population. Dr. Van patients with CF in the U.S. and Canada, in Loon, a gastrointestinal cancer specialist, which the mean age of onset of digestive was inspired to study the incidence and tract cancers was 32 years, while those implications of gastrointestinal cancer in between the ages of 20 and 29 had a those with CF by several of her patients notable increase in risk. facing this dual diagnosis. Thanks to advances in the understanding and treatment of cystic fibrosis (CF), people with CF are living longer; but as they age, other health complications emerge that may not be overtly CF related. In her illuminating presentation, “CF and Cancer: Who Should Be Concerned and What Can

cfri | Fall 2014

Dr. Van Loon stressed that both patients and care providers need more information about the increased risk of digestive tract cancers for those with CF. Despite studies indicating that patients with CF have a higher risk and are diagnosed at a younger age than their non-CF peers, there are currently no screening protocols that take these factors into consideration. Dr. Van Loon emphasized, “because this population suffers from chronic gastrointestinal complications of CF, many early warning signs and symptoms of gastrointestinal malignancy – for example, abdominal pain, constipation, and anemia – may be masked or attributed to other etiologies, resulting in delays to diagnosis.” In an effort to develop new cancer screening protocols for CF patients, Dr. Van Loon is currently enrolling subjects for a study of adults with CF, aged 30 and older, who will undergo colonoscopies and screening. Support for her research has been provided through a cystic fibrosis oncology research fund established in memory of Anabel Stenzel, who had CF and lost her battle with small bowel cancer in 2013. Results of this important and timely study will guide the development of recommendations for gastrointestinal cancer screening for those with CF.

Anabel Mariko Stenzel

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CFRI Announces Formation of Medical Advisory Board Beate Illek, PhD

Bill Hult

Julie Desch, MD

Honoring the Extraordinary: CFRI’s Annual Awards Recognize Our Community Heroes By Siri Vaeth Dunn, MSW

Each year at our National Cystic Fibrosis Family Education Conference, CFRI honors individuals that have made extraordinary contributions to the cystic fibrosis (CF) community. Nominations for the CFRI Professional of the Year and the Dave Stuckert Memorial Volunteer of the Year were received from across the nation, and a panel of judges comprised of prior award winners selected the outstanding honorees. This year, CFRI’s Board of Directors also introduced the CFRI Partners in Living Award in Memory of Anabel Stenzel. The 2014 Professional of the Year Award was presented to Beate Illek, PhD, a brilliant researcher at Children’s Hospital Oakland Research Institute (CHORI) who has achieved key discoveries including: the conductivity of CFTR to bicarbonate and other anions in airway cells; the discovery of genistein as an activator of G551D mutant CFTR activity; the characterization and establishment of novel CF bronchial epithelial cell models; and the discovery of a malfunctioning bacterial defense mechanism in CF airway cells. In addition to these accomplishments, Dr. Illek has established a CF research student program at CHORI to inspire new leaders in the field. Dr. Illek exemplifies outstanding dedication and commitment to the CF community. Bill Hult, CFRI’s intrepid Board president, was awarded the 2014 Dave Stuckert Memorial Volunteer of the Year Award, created in honor of this dedicated CFRI volunteer who lost his battle with CF in 1989. Since joining CFRI’s Board of Directors in 2004, and his election as President in 2008, Bill has helped to expand CFRI’s capacity to meet the needs of a broadening CF community, while ensuring CFRI’s financial and organizational health. Serving as Board liaison on the Research Advisory Committee (RAC) and developing strategies related to CFRI’s long-term vision, Bill exemplifies an unflagging commitment to CFRI’s mission. CFRI’s Board of Directors inaugurated a new award this year, the CFRI Partners in Living Award in Memory of Anabel Stenzel. Ana, a former CFRI Board member, was a beloved member of the CFRI community; a strong woman with CF who lost her battle with cancer last year. The recipient of this new award is selected by CFRI’s Board of Directors. Nominees must have CF, have supported CFRI through volunteer and/or fundraising efforts, and embody the qualities exemplified by Ana, including courage, initiative, determination, adherence to medical regimen, community service, and positive coping. The first recipient of the CFRI Partners in Living Award in Memory of Anabel Stenzel was Dr. Julie Desch. Dr. Desch received her medical degree in pathology from Stanford University School of Medicine. She has been a dedicated CFRI volunteer for many years, previously serving on the Board of Directors, and sharing her medical and scientific knowledge through membership on the Research Advisory Committee. She has been a presenter at CFRI’s Discovery Series, and has authored articles for this newsletter. Dr. Desch is the founder of New Day Wellness, a nonprofit organization with a mission to coach and train wellness to people with chronic illness. Dr. Desch exemplifies Anabel’s spirit through her courage, positive attitude, and volunteer service to CFRI. Congratulations to these outstanding individuals!

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CFRI is honored to announce the formation of our new Medical Advisory Board, comprised of some of the most esteemed members of our medical and research community. We are grateful to these individuals for sharing their expertise and experience so as to ensure CFRI has vital information and access to the most current CF-related news and protocols.

Julie Desch, MD Founder, New Day Wellness Deborah “DJ” Kaley RN, MSN, AE-C, CPN Pulmonary Nurse Case Manager Bay Area Pediatric Pulmonary University of California San Francisco Benioff Children’s Hospital Oakland Thomas G. Keens, MD Director, Cystic Fibrosis Care Center Children’s Hospital Los Angeles Professor of Pediatrics Physiology and Biophysics Keck School of Medicine University of Southern California Paul Quinton, PhD Nancy Olmsted Professor in Pediatric Pulmonology Professor of Biomedical Sciences University of California Riverside Department of Pediatrics Rady Children’s Hospital University of California San Diego School of Medicine Kristin Shelton, RRT Respiratory Coordinator CF/Pulmonary Clinic Stanford Children’s Health Ahmet Uluer, MD, DO Director, Adult Cystic Fibrosis Program Division of Pulmonary and Respiratory Diseases Boston Children’s Hospital and Brigham and Women’s Hospital Assistant Professor of Medicine Harvard Medical School cfri | Fall 2014

The CF Journey: Where We Have Been and Where We are Going By Linda Burks, EdD

Taking us on a time travel trip from medieval Europe to the 21st century, Thomas G. Keens, MD, Director of the Cystic Fibrosis Care Center at Children’s Hospital Los Angeles, and Professor of Pediatrics, Physiology and Biophysics at the Keck School of Medicine at the University of Southern California, engagingly presented, “Where We Have Been and Where We are Going” in the field of cystic fibrosis (CF) at CFRI’s National Cystic Fibrosis Family Education Conference. With the median life expectancy for those with CF now in the early 40’s, medical advances have come a long way since CF was first noted in German folklore as a hex, when tasting salt while kissing a newborn was seen as a sign the baby would soon die. In 1938, life expectancy for those with CF was less than one year. Two years later, CF was recognized as an autosomal recessive disorder. Incorporation of the Cystic Fibrosis Foundation in 1955 raised Thomas G. Keens, MD research awareness, while the establishment of the first CF Centers in 1961 improved care and increased the median age of survival to 10 years. CFRI was established in 1975. At that time, few with CF survived their teens. An historic milestone was reached in 1989 when the CF gene was identified. With the

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discovery of the cystic fibrosis transmembrane conductance regulator protein (CFTR), it seemed a cure was close by. That trip has taken longer than first expected. CFTR regulates chloride transfer in and out of the cell. The improper function of the chloride channel creates sticky mucus and an excess of salty sweat, and many organ systems are negatively affected. Pancreatic enzymes are produced, but the thick mucus prevents them from reaching the intestine to aid digestion. Scarring occurs in the pancreas and liver. The heavy mucus weighs down cilia in the lung lining, enabling bacteria to develop, resulting in damaged lungs.  These symptoms have been treated by new therapies – including Pulmozyme®, azithromycin, TOBI®, and Cayston® – that have generally increased overall lung function. A primary focus now is preventing acute exacerbations, which typically result in dramatic loss of lung function. Researchers seek to

understand what causes the dip in FEV1 following an exacerbation, and whether it is gradual or sudden.   With newborn screening for CF now standard in all 50 states, many mutations (nearly 2,000 thus far) have been identified, and as Dr. Keens explained, this enormous number further complicates the search for a cure. Mutations are classified in two main categories: one where little to no CFTR protein is found on the cell surface; the second where CFTR is on the cell surface, but fails to function properly. Observing that disease severity may be predicted by the percent of functioning CFTR, the goal of new therapies is to modify CFTR so that 30% of the protein functions properly.    Recent research on CFTR modifiers has demonstrated exciting results. The potentiator Ivacaftor (VX770 or Kalydeco®) has been shown to produce 50% CFTR function for those with the G551D mutation. For those with two copies of the Delta F508 gene, the combination of Ivacaftor with Lumacaftor (VX809), a corrector that brings CFTR to the surface, is promising. Initial results from Phase 3 studies indicate significant improvement in FEV1, body mass and quality of life. Unfortunately, little difference was found for those with one copy of the Delta F508 gene.     It is an exciting time. As new treatments to prevent disease progression are discovered, the possibility of further lung and pancreatic damage can be kept at bay. As Dr. Keens compellingly shared, we are on the cusp of a new generation of treatments for CF and are converging on a cure.    

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There in the Room: From Survival to Healthiness with Cystic Fibrosis By Darlene Batchelder

Mary ElizaBeth Peters is a survivor. The 33-year-old theater artist and CF educator from Boston, Massachusetts, received a double lung transplant in 2010. In her moving presentation, “More than Survival: A Pursuit of Healthiness,” given at CFRI’s 27th National Cystic Fibrosis Family Education Conference, Peters used the stage to give voice to her own unique cystic fibrosis (CF) experience, as well as to the journeys and stories of others touched by CF. When she isn’t on stage, Peters works with children with disabilities, publishes a blog, directs theatre productions, and writes. Her book, Unto the East: Words in Waiting, is the story of her wait for a double lung transplant. She began her opening night presentation by asking everyone to answer the questions, “What can you do that others cannot?” and “What can’t you do that others can?” In doing so, she invited us all to consider that regardless of our varied abilities, we each have unique stories to share and it matters that we share them. Confessing that she was “bored with her own biography,” Peters shared what others with CF suggested she explore in her presentation, including: “Acceptance of the disease, the emotional effects, as well as physical;” “How freaking tired we are – I am not lazy, I am exhausted;” “The psychological effects;” and, “This is

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or noon on a Sunday in the hospital when no one is around and you can’t get a pass off the floor to go buy a Snickers bar and your family is at home eating lunch after church.  We are there, in the room…We are there in the room when a person is diagnosed with cystic fibrosis. We are there in the room at a graduation party we worried wouldn’t come. We are there in the room when it’s time to start using supplemental oxygen. We are there in the room when you win a swim meet. We are there in the room when you have to go in the hospital the Wednesday before the prom. We are there in the room when you get married. We are in the room when you get divorced. We are in the room when your wife/ husband leaves you a year after transplant and you wonder why this happens Mary ElizaBeth Peters so often with so many people you know. We are there in the room we are uniquely linked by many common experiences. when you first get listed for transplant. We Peters shared her distincare there in the room when your kid goes tive CF experiences as to kindergarten. We are there. In the room. part of an online CF We are present. ” women’s group. Despite In closing, Peters read her moving and the challenges placed autobiographical poem, “My Sister Died upon those with CF to on a Sunday,” noting that she decided to join together, Peters share it, “not to make us all sad and cry, movingly conveyed the though that might be the case. I chose to deep connections that present it because it highlights an important can be forged online, fact – your life is not someone’s movie. It’s and the support and your real life. It’s happiness and it’s sadness, sense of community and the good days and bad days are all your that results. The following excerpt real, real life. And that’s your story and you was created by the women in the group, inspired in part by the Vagina Monologues should tell it.” poem, “I was there in the room.” Beth eloquently encouraged us to reflect on and tell our unique stories. Everyone “We meet online and we are . . . present… has one; and the authentic expression of We are in a tiny internet room where it, amidst the sadness and challenges of we can share with each other at 4 in the morning when we can’t sleep or 9 in the CF, can lead to acceptance, connection, morning when the spouse left for work better health, and happiness. an invisible illness – you might not look sick but you can still be really sick.” The varied responses made it clear that while our individual experiences with CF are unique,

cfri | Fall 2014

CFRD: Current Issues & Future Strategies By Siri Vaeth Dunn, MSW

Cystic fibrosis-related diabetes (CFRD) impacts nearly 40% of young adults with cystic fibrosis (CF). CF causes scarring to the pancreas, thereby destroying a large percentage of the insulin-secreting cells. Left uncontrolled, CFRD can have a significantly negative impact on lung function and mortality. Yet as Antoinette Moran, MD, Professor and Division Chief of Pediatric Endocrinology at the University of Minnesota compellingly shared during her presentation, “The Sweet Evolution of CFRelated Diabetes,” at CFRI’s 27th National Cystic Fibrosis Family Education Conference, early diagnosis and insulin intervention can reverse this trend, while new “corrector” and “potentiator” drugs in the CF treatment pipeline might “fix” the problem by increasing insulin production.

high blood glucose levels create an ideal environment for the growth of opportunistic bacteria in the lungs of CF patients. Early diagnosis is key, and Dr. Moran questioned whether earlier screening

Insulin helps the body to use nutrients in food to produce Dr. Antoinette Moran energy, gain weight, and build muscle. As noted by should be implemented, because, “in the Dr. Moran, “Essentially all cystic fibrosis ‘pre-diabetic’ period – years before the patients are insulin insufficient,” leading actual diagnosis of CFRD – nutritional to “muscle and fat breakdown, difficulty gaining or maintaining weight (particularly status and pulmonary function begin to decline.” Early CFRD symptoms include muscle), and impacting lung function.” increased thirst and urination, the inability The insufficient amounts of insulin are to gain or maintain weight, poor growth even more detrimental during times of in children, and an unexplained and rapid infection and steroid use. drop in lung function. But Dr. Moran Many studies have documented the stressed, “There may be no obvious negative impact of diabetes on survival symptoms!” While oral glucose tolerance in CF. Both hyperglycemia (high blood testing (OGTT) is usually conducted glucose) and insulin insufficiency have a annually after a patient turns 6, there negative impact on CF lung disease. As are indications that many children have explained by Dr. Moran, “There is normally impaired glucose at a much younger age. no glucose in airway secretions, but in CF, Dr. Moran discussed a study in which airway secretion glucose is elevated when OGTT is conducted with infants beginning plasma glucose is above 144 milligrams at three months old that may provide new per deciliter.” A study of CFRD patients insights related to the ideal age to initiate undergoing constant glucose monitoring glucose testing. found they spent nearly 50% of each day above this level. This is significant, because Dr. Moran stressed, “Insulin provides a clear

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benefit and is the definitive treatment for all patients with CFRD (with or without fasting hyperglycemia).” Currently, 41% of children with CF tested at ages 6 to 10 years have abnormal glucose tolerance, leading Dr. Moran to ask, “Should we be treating pre-diabetes with insulin?” A new, multi-center placebocontrolled study will explore whether this is the case. Dr. Moran raised the possibility that the new “potentiator” and “corrector” drugs to treat CF could help those with CFRD, citing a small study that showed that “Ivacaftor increased insulin secretion by 66% – 178% in four out of five CF patients ages 6 to 52 years with the G551D mutation.” Dr. Moran pondered whether those with “pre-diabetic” glucose intolerance levels would also be candidates for early treatment with these new therapies. Dr. Moran stressed that while high mortality rates for females with CFRD used to be the “worst scenario,” this has been reversed at her center because, “controlling CFRD

Those with CF-related diabetes must closely monitor their blood glucose levels.

makes the difference.” She added, early intervention and aggressive insulin therapy “reverses chronic nutritional and pulmonary decline in CFRD, thus improving survival.”

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The CFRI Teen and Adult Retreat: A Zen Experience! By Anna Modlin, MA

This year’s CFRI Teen and Adult Retreat was a great success. The retreat included several Zen-themed activities -– Tai Chi, SoulCollage® and guided imagery. We were fortunate to have Dr. Steve Singh and Dr. Elena Sandoval, surgeons from CFRI’s “Zen” Teen and Adult Retreat provided a place for St. Luke’s Lung Transplant reflection, camaraderie, information, and fun. Center in Houston, lead a question and answer session, and we have lost, no matter how long ago. also had a session on adoption. Rap Unfortunately, this year we said goodbye sessions were scattered throughout the to some of our longtime friends, Ana S., retreat, during which attendees provided Steve P., and Nahara M., along with many emotional and social support to one friends from past retreats and CF camp. another. The week was filled with sharing, They are missed but never forgotten, and fun and laughter, all while observing the memorial was a moving tribute. We stringent cross-infection guidelines. We ended the week with a hilarious talent participated in entertaining games of show and skit night. The snack room was Wiffle ball, and some people even gloved overflowing with goodies: special thanks up to throw around a football. Most to the Johsts at Grocery Outlet and to attendees picked secret buddies at the Whole Foods for their donations. During beginning of the retreat, and presented the week, new friendships were made, and awards to their “Buddha buddies” at the bonds deepened with old friends. Despite awards ceremony. We held our annual being a little tired from all the fun, I left candlelight memorial, at which we lit the retreat hopeful, emotionally filled, candles and told stories about those we refreshed, and recharged!

Donate Life: Even Those With CF Can Donate! By Siri Vaeth Dunn, MSW

Many members of the cystic fibrosis community have received the gift of lung transplantation. But many more are waiting. It is extraordinarily easy to become an organ donor, as every state has an online registry. Most importantly, express your wish to be a donor to your family, friends and physicians, and include your wishes in an advance directive or will. You do not need to be young to be a donor: In 2013, 35% of deceased donors were over 50 years old, and of these, many were over the age of 65. You also do not need to be in perfect health. In 2013, Gianna Altano lost her battle with CF while waiting for a lung transplant. She

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in turn, donated her kidneys and corneas. That same year, Ana Stenzel lost her battle with small bowel cancer after living with CF and receiving two lung transplants. She also donated her corneas. Tissue Bank International has selected Ana to be an honoree on Donate Life America’s float at the annual Rose Parade in Pasadena, California on New Year’s Day, 2015. By being an organ donor, these women – and many others – have helped extend and improve the lives of people in need.

CFRI’s 27th National Cystic Fibrosis Family Education Conference Thank you to our generous sponsors and supporters who helped to make this year’s event a tremendous success.

Sustaining Sponsors Genentech, Inc. Novartis Pharmaceuticals Vertex Pharmaceuticals Chiesi USA, Inc.

Platinum Level AbbVie Boomer Esiason Foundation Gilead Sciences

Gold Level Forest Laboratories Foundation Care Pharmacy Cystic Fibrosis Services Pharmacy

Silver Level Electromed, Inc. RespirTech Med Systems Cystic Fibrosis Pharmacy – Florida Modern Health Pharmacy Hill Rom

Supporters Pari Kendal Hall and Brad Huntzinger Prodigy Press, Inc. Sofitel San Francisco Bay

If you have not yet registered to be an organ donor, go to www.organdonor.gov for the latest information and links to register in your state. The design for Donate Life America’s 2015 Rose Parade float

cfri | Fall 2014

California’s CF Newborn Screening: Lessons Learned and Future Implications By Eric Frisbee

Attendees at CFRI’s 27th National Cystic Fibrosis Family Education Conference were honored to have Martin Kharrazi, PhD, MPH, present “Reflections on Detection of CF and CRMS in California Newborn Screening.” Dr. Kharrazi, Research Scientist

Martin Kharrazi, PhD, MPH

Supervisor with the California Department of Public Health Genetic Disease Screening Program, was instrumental in the design, implementation, and evaluation of California’s unique 3-step newborn screening model for cystic fibrosis (CF). All 50 states in the U.S. include cystic fibrosis in their newborn screening (NBS) programs, as early detection of CF offers the opportunity for early intervention and improved outcomes. NBS methods and models differ by state. Each state program checks for a chemical produced by the pancreas called immunoreactive trypsinogen (IRT) as a first step. When IRT levels are elevated, most states’ CF screening programs test for a panel of 23 mutations in the CF transmembrane conductance regulator

cfri | Fall 2014

(CFTR) gene. Newborns with one or more mutations are referred for sweat chloride testing. The California program selectively tests for 40 severe and ethnically diverse mutations on its panel, and further tests the blood spot by DNA sequencing when a single panel mutation is found to look for additional mutations. Only newborns with two or more mutations are referred for diagnostic follow up at CF Centers. Dr. Kharrazi’s presentation gave insights on the increasing number of infants with CFTRrelated metabolic syndrome (CRMS) that are being identified through NBS. In California, CRMS is diagnosed in infants with a high IRT value who have two CFTR mutations (one CFTR panel mutation, and at least one CFTR mutation from DNA sequencing in trans), a negative or intermediate sweat test result of sweat chloride values