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December 2019 Newsletter

Publication date: 10 Dec 2019

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Diagnosis by Crowdsourcing?

Can television play a role in diagnosing rare disease patients? Two programs, Diagnosis on Netflix produced by Yale physician and New York Times journalist Lisa Sanders, and Chasing the Cure hosted by broadcast journalist Ann Curry on TBS are trying to do exactly that. Both series feature patients with challenging conditions of unknown cause. Patients are followed through a process where their condition is presented on video, evaluated by physicians and taken through a battery of medical tests. Audience input, often from patients with similar symptoms or interested clinicians, is then solicited. After discussions of the clinical data, alternate hypotheses are evaluated and in some cases, an apparently accurate diagnosis can be obtained.

KCNMA1-Linked Channelopathy Featured in Diagnosis

One of the diseases featured on the Netflix Diagnosis program was KCNMA1-linked channelopathy, an illness characterized by sporadic seizures and limpness. Dr. Andrea Meredith, Associate Professor of Physiology at the University of Maryland, who studied similar disorders for over 20 years participated in the show. The disease belongs to a larger category of disorders known as channelopathies, where defective cellular ion channels interfere with the normal electrical activity in the brain, muscle, heart and other organs. KCNMA1 is the name of a gene associated with a specific type of potassium ion channel. Patients with KCNMA1-Linked Channelopathy typically experience seizures, movement disorders and developmental delays.

DISORDER Comes to San Francisco
DISORDER, the Rare Disease Film Festival, made its West Coast debut on November 9-10 on the University of California, San Francisco campus. The festival, featuring dozens of films about the lives of rare disease patients and their families, previously was held only in the Boston area every two years. Focusing on the stories of real patients, the films told of long journeys to arrive at a diagnosis, daily challenges, and the up and downs of searching for effective therapies. They depicted the dogged determination of supportive family members to “move mountains” to improve patients’ lives. The festival also included panel discussions with researchers, parents and rare disease advocates. The event not only inspired awareness and hope, but according to co-founder Bo Bigelow was intended to “spur collaborations in the rare disease world.”

Reach Out and Connect

As emphasized in the Diagnosis and Chasing the Cure programs, people with rare diseases invariably value connecting with others confronting the same issues. RareShare provides a free online forum for those wishing to exchange disease-specific information. To be effective, active involvement of community members is essential. Responses to community posts encourage more posts. Unlike many social media sites, RareShare communities are disease-focused and seek to provide useful, scientifically accurate, current information to its members. So, if you haven’t done so in a while, sign-in to engage your community, tell your story and learn from your fellow members.

RareShare communities are not limited to patients and families. Researchers, disease advocacy organizations and interested health care providers are encouraged to join as they have vital knowledge that ought to be shared. One universal question asked by rare disease patients is “where can I find help?” Providing answers to this question can be life changing. Share what you know to help others. Visit us at http://www.rareshare.org.

Even if you have no immediate information to share, gain a broader perspective on current rare disease developments by checking out our regularly updated news links at https://rareshare.org/news_links.

RareWear Survey Assesses Monitoring Needs

Rare Genomics Institute's RareWear initiative aims to encourage medical device developers to apply their latest technology to address monitoring needs of rare disease patients. To better understand how wearable devices can best benefit patients, the RareWear team has developed a short survey.

Survey

Support Us

Help RareShare and the Rare Genomics Institute continue to provide their free services in support of rare disease patients. Even though the organization is non-profit and staffed by dedicated volunteers, maintaining our websites and distributing our newsletters depend on your donated funds. Make a tax-deductible year-end contribution at https://donorbox.org/rg-giving.

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