Stories of Hope, Success and Progress Illustrate Need for Collaboration With Patients
Utah Assistant Attorney General and spinal muscular atrophy survivor Steve Mikita and five other inspiring patient advocates will share stories of their tireless efforts to insert the patient voice at each step of the drug development process at the DIA 2013 49th Annual Meeting
in Boston this month. The news media are invited to listen to the compelling stories of these patients and patient advocates on June 24 at 10:15 a.m. at the Boston Convention & Exhibition Center.
In addition to Mikita, who has lived decades beyond his life expectancy of age 2, the panel of patient advocates includes Karen Ball, whose work has led to the discovery of the genetic mutation of her daughter’s disease, Sturge-Weber syndrome, and Donna Appell, whose race on behalf of her daughter to find a treatment for Hermansky-Pudlak syndrome has been chronicled in the documentary “Rare.” All of the panelists were selected for the DIA Patient Advocate Fellowship Program for their determined efforts to accelerate drug development and access.
“The work of patient advocates is vital in discovering and developing therapies, and their stories reflect their utmost determination and resilience—even when faced with roadblocks when trying to develop the right drug,” said Susan Cantrell, director of DIA North America. “DIA brings these incredible individuals to our meeting to stimulate collaboration, promote dialogue and share best practices with the premier professionals that can benefit from their work and help advance their goals.”
Unable to move his limbs from a rare neuromuscular disease that had not a single treatment available, Steve Mikita knew he would never be able to run and jump like the other boys. Yet he knew what his father told him: He could exercise his mind. Throughout his life, this disease has never stopped the assistant attorney general, Duke University graduate and author from working on behalf of every person struggling with a rare disease.
Mikita is a patient representative for the federal Clinical Trials Transformation Initiative, a public-private partnership that brings together thought leaders and decision-makers who are dedicated to increasing the quality and efficiency of clinical trials. He promotes including patient insight throughout all phases of drug development and approval.
Mikita said his quality of life and the quality of life of others with rare diseases is being diminished because the pharmaceutical industry is “looking for low-hanging fruit.” He added,
“My disease is up in the top branches. I am up here saying, ‘Hey, talk to me up here.’”
Donna and Ashley Appell
Donna Appell’s daughter, Ashley, was diagnosed with Hermansky-Pudlak syndrome (HPS) as an infant. The life expectancy for people with the extremely rare genetic disease is around age 30, and Ashley is now 26 years old.
Donna Appell, a resident of Oyster Bay, N.Y., has traveled so many times to Puerto Rico to identify and recruit patients with HPS for a clinical trial that she’s acquired a nickname, “Big Apple”—because of her strong New York accent and larger-than-life personality. Her recruitment efforts eventually led to a clinical trial by the National Institutes of Health on the effect of pirfenidone on pulmonary fibrosis, an often fatal symptom of HPS. The study showed the drug to be ineffective, but Appell is not giving up.
“I will not stay still,” she said.
Appell’s race to find a treatment for her daughter is chronicled in the documentary “Rare,” which will be screened at DIA’s annual meeting.
When Karen Ball, of Mount Freedom, N.J., got the call in May 2013 with the results from a clinical researcher studying Sturge-Weber syndrome (SWS), her life, her daughter’s life—like the lives of thousands of SWS patients and families—was changed forever.
Her daughter, Kaelin, was diagnosed with SWS at birth. To raise awareness of SWS and associated port-wine birthmark conditions, Ball started the Sturge-Weber Foundation in 1987. The foundation work led to her support for the development of a clinical trial on SWS with the Kennedy Krieger Institute; she supplied the study with patient data and tissue samples.
Twenty-six years after Kaelin was diagnosed, Ball’s years of tireless work came to fruition: The clinical trial detected the genetic mutation that can result in SWS. Researchers have heralded Ball for her contributions, saying their work resulted in part from her efforts. This July, the foundation will meet with researchers to discuss next steps in developing a therapy for SWS.
Debra Madden, of Newtown, Conn., was diagnosed with stage 3 Hodgkin’s lymphoma in 1987, at age 22. She remembers, as a terrified young patient, looking up information on her diagnosis and finding it described as a “uniformly fatal” disease—shocking and dated words that inspired her to begin her career as a medical writer, focusing on making complex scientific information more accessible and understandable for patients and their families.
Twenty years later, Madden had more devastating news. She was diagnosed with stage 2 breast cancer, likely a result of her radiation therapy for Hodgkin’s decades earlier. But this time, there was Ann’s Place, a source of support and resources for people living with cancer that got her through surgery and well on the way to recovery. Following her chemotherapy, Madden immediately began serving as a peer mentor for newly diagnosed cancer patients.
Her experience fighting and surviving both cancers is the foundation of her daily work on behalf of other patients as a medical writer leading grant review panels for national research efforts. As a grant reviewer, Madden has tirelessly worked her way up, serving as a U.S. Food and Drug Administration (FDA) patient representative, a key member of the Patient-Centered Outcomes Research Institute’s new Advisory Panel on Assessment of Diagnosis, Prevention, and Treatment Options, a reviewer for the U.S. Department of Defense Breast Cancer Research Program and a patient representative for several ongoing initiatives with the Clinical Trials Transformation Initiative. With clinical trial development and the grant review process, Madden is a recognized force as the voice of patients nationwide.
Madden’s work has placed patients at the table where research and policy decisions intersect.
“My transition as an advocate continues to evolve, and there remains so much more to be done,” she said. “And our work—as research advocates, scientists, investigators, and clinicians—won’t be done unless or until we find the answers.”
Pulmonary fibrosis has devastated Teresa Barnes’ family. Within 10 years, the disease killed her father, her three uncles and her aunt—all of whom went from good health to death in just a few years or even weeks. Barnes, a former broadcast journalist from Memphis, Tenn., knows she and her toddler daughter, Eme, could be next—and is in a race against time to find a cure. With a family history of pulmonary fibrosis on both sides, Eme has a 68 percent chance of developing the disease.
Barnes dove into accelerating research for pulmonary fibrosis—an area she knows all too well. With an extreme genetic risk to develop the disease, Barnes’ family has been part of genetic research for 12 years. She co-founded the Coalition for Pulmonary Fibrosis, and, along with Appell, recruited patients for the first clinical trial testing a therapy for the disease. The drug was proven ineffective, but it did slow the disease’s progression for a minority of the patients. Barnes testified before an FDA panel to support approval of the drug as the only hope pulmonary fibrosis patients and their families had for a treatment.
Barnes also has developed two initiatives to advance the study of pulmonary fibrosis, bringing together scientists from around the world. She writes a patient advocate column for Annals of the American Thoracic Society.
Through her role as a national spokeswoman on the disease, Barnes is confident that a therapy will be developed. It is too late to save her father, but not to treat the 200,000 diagnosed patients in the United States who are rapidly running out of time.
Cindy Hahn remembers going to awaken her daughter, Alaina, from her crib in the morning and finding her covered in blood. Alaina, afflicted with rare genetic liver disorder Alagille syndrome, had scratched her own skin raw. Relentless, extreme itching was just one symptom of the little-understood disease, which also caused severe damage to Alaina’s heart and kidneys. The only treatment was an organ transplant. Hahn, a resident of Tualatin, Ore., knew it was up to her as a mother to find answers.
Hahn founded the Alagille Syndrome Alliance and quickly started a patient registry to encourage clinical trial research. She enrolled Alaina in a study to understand the pancreatic impact from the disease. Despite having to watch then 8-year-old Alaina gag as doctors inserted a tube from her nose to her small intestine, Hahn was grateful for the study that connected her with leading experts in liver disease who could advance her organization’s mission.
Alaina joined other rare liver disease patients in a second study aiming to relieve incessant, lifelong itching. She underwent surgery to remove a portion of her small intestine—forcing her to wear an ostomy pouch for the rest of her life to collect bile. Within days, Alaina’s itching stopped. With her daughter now a college graduate, Hahn continually worries about the debilitating heart problems that patients develop as they age.
Hahn published “Parent Letters Project: Messages of Love and Appreciation to Children with Liver Disease” in 2002, with notes from parents to children with liver diseases, and plans a follow-up book soon. As the voice of hope for parents, Hahn has good news to share with families of Alagille patients. Because of her work, a Phase II trial is developing for Alagille syndrome later this year—which could lead to the first therapy for the disease.
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