Susan Stein, Founder and CEO of Connexion Healthcare, attended the September 24th screening of The Lion’s Mouth Opens held at the Hyatt Regency Resort & Spa in Huntington Beach, California, at the 2015 Global Genes Rare Patient Advocacy Summit. This HBO Documentary Film, which describes Marianna Palka’s journey with Huntington’s disease (HD), was introduced at the Sundance Film Festival in 2014.
Palka, producer of the film, and Adriana Venegas led a question-and-answer session afterward. Both Palka and Venegas are patient advocates for HD, a rare, fatal, genetic disorder that causes a breakdown of nerve cells in the brain.
“The Lion’s Mouth Opens is an outstanding way to raise awareness about this rare disease,” said Stein. “This film is sometimes hard to watch, but it reminds me why we at Connexion Healthcare focus on rare diseases and how our work ultimately helps patients,” she said. “The patient perspective, especially on rare diseases, is an ever-growing voice. Often no treatment exists for a rare disease. Connexion is committed to raising awareness and to assist in getting orphan drugs used to treat rare diseases through the US Food and Drug Administration (FDA) approval process.”
Facts About Huntington’s Disease
Having HD has been described as having Alzheimer’s disease, because of the effects on the brain, plus Parkinson’s disease, because of the effects on the body. HD typically manifests when people are in their 30s and 50s; symptoms then worsen for the next 10 to 25 years. The malfunction and death of brain cells in patients with HD result in the loss of control of movement; trouble thinking, remembering, and communicating; and problems with behavior and mood. Complications related to having HD, such as choking or infection, are usually the cause of death.
HD affects both genders and all races and ethnic groups. Currently, about 30,000 Americans have HD and another 200,000 Americans who are undiagnosed have a 50% chance of having HD. A child of a person with HD has a 50% chance of inheriting it. Of those who may have inherited HD, fewer than 10% choose to be tested for the genetic mutation that causes the disease. Of those with HD, 27% attempt suicide, and up to 10% succeed.
Drugs are available to help relieve the physical, mental, and behavioral symptoms of HD, as are speech and occupational therapy and support groups. A number of drugs and modalities with the potential to treat HD have been identified and are in various stages of testing. One drug, tetrabenazine, has been approved by the FDA to treat the chorea (involuntary twisting movements) caused by HD.
About the Connexion Healthcare Rare Disease Center of Excellence
Connexion Healthcare is a full-service global provider of strategic medical and scientific communications, with decades of experience providing exceptional service to the pharmaceutical industry. We provide services through 2 Centers of Excellence—Oncology and Rare Disease—and possess core expertise in these therapeutic areas and their marketplaces.
The Connexion Healthcare Rare Disease Center of Excellence specializes in communicating the science behind rare diseases and orphan drugs. We strategically partner with industry leaders in the rare disease community to proactively connect all stakeholders in launching products to underserved patient populations. Our team comprises skilled communications experts who plan, develop, and disseminate scientific communications based on their advanced knowledge of the science, the patient journey, healthcare providers, and the orphan drug approval process.
At Connexion, our cross-functional teams navigate complicated treatment and market landscapes by elucidating the appropriate pathways to brand success. We understand how brand strategy drives market share. Since launching its dedicated Rare Disease Center of Excellence, Connexion has developed prelaunch, launch, and postlaunch communications in numerous rare diseases and disorders: congenital and genetic, movement, metabolic, and lysosomal storage disorders; lung, blood, skin, and endocrine diseases; and rare cancers.
For further information regarding the Rare Disease Center of Excellence at Connexion Healthcare and how we can develop rare disease communications to differentiate therapies by their unique attributes, contact:
Susan Stein, MPH
Rare Disease Center of Excellence