Rarecast

When Jon Miller’s son was born doctors failed to diagnose a rare and deadly medical condition despite using newborn screening that was supposed to detect it. Doctors told him his infant was going to die. His son was diagnosed correctly in time as having tyrosinemia, a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, the result of an enzyme deficiency. The experienced led Miller to create NOTA, the Network of Tyrosinemia Advocates. We spoke to Miller about his advocacy, the need for addressing a problem with newborn screening, and why from the earliest days his organization has fought for access to needed medications for tyrosinemia patients around the world.

Sickle cell disease is a rare, genetic condition that causes red blood cells to become misshapen and damaged. The condition activates immune cells and blocks blood flow in capillaries, causing injury to many organs and pain daily. Imara is developing an experimental therapy that can prevent the sickling of the red blood cells and also reduce the adhesion of white blood cells to reduce blockage of the blood vessels. We spoke to Rahul Ballal, CEO of Imara, about the therapy, the class of drugs it belongs to, and what the company has done to enroll a population of patients traditionally underrepresented in clinical trials.

When Sean Baumstark was 25, he was diagnosed with Friedreich’s ataxia, a rare, debilitating and life-shortening disease. His doctor advised him to avoid activities where balance was critical, such as biking, hiking, or running. He told Baumstark he should move to a home without stairs and install handrails. A month later Baumstark bought a bike and set off on a 650-mile trek from his home in Sacramento to Las Vegas. Among the many things he does today, his De:terminence program provides people with rare conditions training, assistance, and equipment to complete challenging physical feats, such as climbing mountains or running in marathons. We spoke to Baumstark about his own rare disease diagnosis, how it became a turning point in his life, and how he learned to embrace life so fully.

Despite accelerated pathways for the development and approval of rare disease therapies, significant challenges remain for companies wishing to bring new treatments to market. Mallory Factor, CEO of IntraBio, recently testified at a U.S. Senate Subcommittee hearing and argued that the programs in place today fail to address the needs companies like his have for timely and early interactions with the U.S. Food and Drug Administration when developing therapies for diseases afflicting small populations of patients. We spoke to Factor about his recent testimony, the issues companies like his face, and what he’d like to see done to address the problem.

Two attorneys specializing in regulatory law recently proposed the creation of an FDA Rare Disease Center of Excellence to better allow the agency to address the challenges of advancing and reviewing rare disease products. The proposal, advanced by Hyman, Phelps & McNamara’s Director Frank Sasinowski and Associate James Valentine, also calls for the creation of deputy directors of rare disease at various FDA divisions and the creation of a rare disease advisory committee made up of external experts. We spoke to Valentine about the proposal, why these measures are needed, and the early response from one key figure at the FDA.

This summer, elite runner Dave Proctor set out on a 4,500-mile run across Canada to break a Guinness World Record and raise $1 million to support the Rare Disease Foundation. Proctor’s son Sam has an ultra-rare neurological condition. Though an injury cut Proctor’s run short, it did ignite the imagination of the public and catch the attention of legislators. We spoke to Proctor about the run, the rare disease landscape in Canada, and what his plans are going forward for his organization Outrun Rare.

Collaborations play a critical role in advancing potential treatments for a rare disease and can take many forms. In some cases, they may involve a single researcher engaging with a single patient, while more complex ones may be multi-organizational alliances that include drug developers, academic institutions, and patient advocacy organizations. We spoke to Hans Schlecht, a physician who has conducted research and the father of a son with an ultra-rare disease, about the importance of collaborations, how patients can engage researchers, and what they can do to ensure the best returns for their efforts.

Seeking treatment for a rare disease can be complicated by the poor understanding clinicians may have of a given condition and variations in the way they diagnose, treat, and monitor a specific disease. One way to ensure patients receive the best care is through the implementation of clinical standards. We spoke to Kathi Kinnett, vice president of clinical care for Parent Project Muscular Dystrophy, about the process of establishing clinical standards for a rare disease, the role patients should play in that process, and what steps can be taken to ensure that clinics adhere to them.

A few years ago, Kavi Gandhi’s parents told him that they had become overwhelmed with the demands of running the foundation they had started to fund research for I-Cell disease, a condition that his older brother Yash died from at the age of 9. Kavi told his parents he didn’t want them to close the foundation and offered to take on some of the responsibilities of running it. Since them he has become a fierce advocate. He’s organized events, raised money, and maintained an active presence on social media for the organization. In recognition of his work, Global Genes named Gandhi the 2018 Global Genes’ RARE Champion of Hope for Teen Advocacy. We spoke to Gandhi, development and communications coordinator for the Yash Gandhi Foundation, about his decision to take a central role at the foundation, the perspective he brings to the work as someone who lost an older brother to a rare disease, and his life as a teen advocate.

People with rare and chronic conditions often become so focused on the treatment of their physical ailments that the psychological and emotional aspects of their diseases can be neglected. Allison Fine, a clinical social worker, founded the Center for Chronic Illness in Seattle to provide professionally-led support groups to people with ongoing health challenges. We spoke to Fine about her work, the psychological toll rare conditions can take, and how these patients can go about finding help they need.

When Mary Beth Campbell’s son Calvin was diagnosed with Bloom Syndrome, a rare genetic disease that can lead to the development of cancer, she found a patient community that had mobilized in fits and starts. There had been efforts to create a patient registry and collect biosamples, but it was not consistently maintained. There was no natural history study of the disease, no animal model for it, no validated target for drug development, and no strong patient community. We spoke to Campbell about her efforts to catalyze the Bloom Syndrome community around a research agenda, how they looked to other rare disease communities to gauge their weaknesses, and how they prioritized what needs to be done.

When Hillary Savoie was pregnant, an ultrasound concerned her doctors that her child might be born with a genetic disease. When her daughter Esmé was born, despite the health problems she faced, Savoie resisted having genetic testing performed. When her daughter was eventually tested, it did not provide clarity. Eventually four suspect genes were identified through various tests. Savoie, founder of The Cute Syndrome Foundation, has chronicled her experiences with Esmé in two short memoirs "Around and into the Unknown" and "Whoosh". She discussed experiences as the mother of a child with a genetic condition, the sometimes-harrowing health emergencies she faces, and how she has learned to live with uncertainty.

When Rachel Callander’s daughter Evie was born was born with a rare, chromosomal disorder, she was told she wouldn’t walk, talk, or eat solid food. The doctor said her condition was “incompatible with life.” Callander's own experience of her daughter was quite different. She said Evie made her stronger, taught her to celebrate life more intentionally, and to have a bigger and more open-hearted view of humanity. When Evie died at age two-and-a-half, Callendar, a photographer, traveled across New Zealand to photograph other children with genetic disorders in the Super Power Baby Project, an award-winning book of photography of children with genetic disorders. She has also built on her experience as a new mother to work with doctors and other healthcare professionals to help them become more effective communicators with patients and learn how to use language that empowers, rather than alienates, them. We spoke to Callander about life with Evie, the Super Power Baby Project, and what doctors need to know about ta

When Muriel Finkel’s uncle became unable to live alone because of amyloidosis, a rare condition in which misfolded proteins accumulate in organs throughout the body, he moved in with Finkel and her husband. As a caregiver, she struggled to understand his condition and medical needs. After his death in 2003, she co-founded Amyloidosis Support Groups to provide peer group support to patients, caregivers, families, and friends of those touched by the life-threatening disease. We spoke to Finkel about her own experience as a caregiver, what led her to establish the organization, and what she’d like others to understand about the challenges caregivers face.

When Onno Faber began experiencing hearing loss in his left ear four years ago, doctors suspected an infection and prescribed steroids. His hearing loss didn’t slow and after several failed treatments, an MRI revealed a large tumor on a critical nerve. Months later, a second tumor was discovered affecting the nerve for his other ear and he was diagnosed with the rare genetic disease neurofibromatosis type 2. A technology entrepreneur, Faber sought to apply what he learned in his career to fight his disease. He founded RDMD with a mission to accelerate rare disease drug development by creating a platform to make needed patient data available to drug developers. We spoke to Faber about his own rare disease journey, the creation of RDMD, and how his company has evolved.

When Katheryn Elibri Frame’s daughter was diagnosed with CDKL5 disorder, a rare neurological condition that causes treatment-resistant seizures and often severe developmental and cognitive impairments, she co-founded the International Foundation for CDKL5 Research and worked to create a roadmap to a cure. Now, she’s focusing on clinical care and advocacy for CDKL5 patients. We spoke to Frame, president and founder of the CDKL5 Research Collaborative and a Global Genes 2018 Rare Champion of Hope nominee, about the condition, her work as a patient advocate, and her efforts to create centers of excellence to improve clinical care of CDKL5 patients.

As a college student at Syracuse University, Rob Long was an All-American punter bound for the NFL. His plans took an unexpected turn, though, when he was diagnosed with a rare brain cancer during his senior year. Today, Long is director of strategic development for Uplifting Athletes, a nonprofit organization that raises awareness and funding for rare diseases through a network of college student athletes. We spoke to Long about his own rare disease journey, how he became involved with Uplifting Athletes, and the work of the organization.

At the age of 4, Destiny Lamonte was diagnosed with vascular Ehlers-Danlos syndrome, a rare connective tissue disorder and considered the most severe form of EDS. As a result of her condition, Lamonte has contended with a long list of complications and underwent multiple surgeries. Nevertheless, she managed to earn a college degree in psychology and today provides support to people in crisis through an online counseling service. We spoke to Lamonte about her life with a rare condition for which there is no therapy, how she has navigated the complexities of the disease, and how she learned to advocate both for herself and others.

Biobanks play a critical role in biomedical research, providing scientists with ready access to cell lines, DNA, and other biomaterials that can provide insights into the causes and mechanism of diseases. Coriell Institute for Medical Research, one of the world’s leading biobanks, has long served as a steward of important collections of biomaterials for the National Institutes of Health and other organizations. We spoke to Debbie Requesens, co-principal investigator of the National Institute of General Medical Sciences Human Genetic Cell Repository at Coriell, about the role of biobanking, how it can accelerate research into rare genetic diseases, and what patients can do to ensure researchers have access to materials related to their conditions.

Nonsense mutations, genetic mutations that abruptly halt the construction of a specific protein before it is complete, underlies a wide range of rare, genetic diseases. Eloxx Pharmaceuticals is developing therapeutics that address this type of error by restoring production of the complete protein. We spoke to Bob Ward, CEO of Eloxx, about nonsense mutations, the company’s library of small molecule compounds that target the protein production mechanism, and why this approach may offer a way to get at hundreds of rare diseases.