Not So Rare: The Paradox of Rare Diseases

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The Paradox Of Rare Diseases

Welcome to the very first edition of Pediatric & Rare Liver Diseases News! As we expand our offerings for and about this community, Global Liver Institute is also committed to keeping you informed about what is happening with pediatric and rare liver diseases.
This edition is the first monthly community-specific newsletter within our new structure. Check out upcoming events in the pediatric and rare liver disease field, a patient’s perspective, exciting news, and more below.
Not So Rare: The Paradox of Rare Diseases
All too often, pediatric and rare liver diseases are thrown together as if they are just one issue, with one need and one solution–however, nothing could be further from the truth. The unmet needs in the pediatric and rare liver space are myriad, and the issues faced by patients, and their families, sit in a spectrum as long as it is wide. In Rare Liver Diseases Month this February, we brought to light and sought to address those challenges through our month-long campaign #RareAware.
Having a rare disease is not rare. In fact, it is incredibly common: 25-30 million Americans live with a rare disease. It is as if every time you step onto a full elevator, one of your fellow riders has a rare disease.
Despite the high numbers, little is generally known about rare liver diseases, such as the names of conditions or places of support or information. This was the driver in our #DiseaseoftheDay campaign, in which we used February to highlight 28 different rare liver conditions and places of knowledge or support.
Living with a rare condition entails a powerful mix of emotional, psychosocial, and physical challenges; patients must learn to cope with each aspect in their own time. To this end, we incorporated two new elements in the #RareAware campaign to support patients on their journey. GLI Living sessions helped patients explore self-care and empowered them with tools and techniques to aid them on their journey. We also brought together pediatric patients and their young family members in weekly book talks to learn and share all about how being a rare disease patient makes them not abnormal, but rather extraordinary.
In parallel with FDA, GLI convened the Primary Biliary Cholangitis (PBC) community for an Externally-Led Patient-Focused Drug Development Meeting (EL-PFDD). For almost six hours, patient and clinical experts from around the world shared their experiences to highlight unmet needs in current and future PBC treatments, clinical trials, and patient participation. Combined with recent data from PBC patient survey, we built compelling arguments to include more patient input into trials design, to include a more diverse patient group, to minimize the use of liver biopsy (e.g. in participation criteria), and to use real-world data as a synthetic control instead of “standard-of-care” placebo arms in disease progression trials. This has opened discussions with trial sponsors and regulators who intend to make the changes deemed most important by patients, bringing the focus to where it all begins: with a patient.

Signature
Donna R. Cryer, JD
President & CEO
Global Liver Institute

Upcoming Events

Pediatricandrare Logo1

Pediatrics & Rare Council meeting, virtual Wednesday May 18.

Please contact rmitchellthain@globalliver.org for more information.

Patient Perspective

Bob Tyler

Patient Name: Bob Tyler

Disease(s): PBC/AIH patient of 9 years

“As rare as [PBC] is, we have people fighting for us daily and I’m forever grateful for that. I also realize that with my daily struggles, we have medicine that slows this progression down that allows me to live the best daily life I can. Don’t misunderstand me, it’s hard on a daily basis, real hard especially knowing this is now my life. But reaching out for support and education and advocating for myself with my doctors allows me to do and be the best I can in my control.”

Read more about a day in Bob’s life with PBC

Share your story with us!

GLI Partner Highlights

Issue 022 Spring RARE Liver Front Cover

We are delighted to bring to your attention the most recent edition of the Rare Revolution Magazine, focused on rare liver diseases. Not only does it feature much of GLI’s work during Rare Liver Disease Month, but also highlights the incredible work of a number of members of GLI’s Pediatric and Rare Liver Diseases Council.

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Research & Development

So much research is being undertaken in rare liver disease currently that a comprehensive list would fill a full newsletter! However, a quick review on clinicaltrials.gov shows current trials in diseases from Autoimmune Hepatitis (AIH), Alagille Syndrome, Biliary Atresia, through PBC, PSC and PFIC, to Zellweger Spectrum Disorder and many more.

Why is this important? Great research conducted with patients can make the difference. October brought us a brand new treatment for pediatric liver disease: Livmarli–the first ever FDA-approved therapy in Alagille Syndrome–was approved to treat chronic itch (pruritus) in affected children. We congratulate our partners working in the incredibly difficult field to improve the lives of children and caregivers alike.

Finally, EASL will host their International Liver Congress (ILC) June 22-26, and GLI will be represented: in person, virtually, and in at least one abstract on the patient experience. We would love to see you there, so please say hello and let us know how we can work together.