Working together towards cures for rare diseases

By Karlee Stewart, Communications Coordinator at FasterCures

7,000 different types of rare diseases and disorders

          1 in 10 Americans suffers from a rare disease

                    95% of rare diseases do not have a single FDA approved drug

                                        The numbers don’t add up.

“Take on the voice that I’m sharing with you today, reach out to your fellow patient advocates who frequently don’t see beyond their own situation and help them understand the bigger systematic challenges we all face.” – Hugh Hempel, The Addi and Cassi Fund 

On February 28, 2013 we joined friends and colleagues in the rare disease community to commemorate Rare Disease Day, the culmination of a week's worth of activities to bring widespread recognition of rare diseases as a global health challenge. 

This year, we were lucky enough to be a part of a major event here in DC kick-starting the week and celebrating the screening of Here.Us.Now a documentary highlighting the Hempel Family and their struggle to save their twin daughters, Addi and Cassi, who are living with Neiman Pick Type C. To learn more about the Hempel’s journey, check out their Time=Lives story.   

The documentary focuses on the pitfalls of an ineffective system for patients with rare diseases who have hit a wall in the search for treatment options or a cure. It features prominent members of the medical research community from academia, pharma, biotech, and patient groups calling for change in this uncommunicative and slow system.

Panel moderated by Margaret Anderson

Following the screening, we heard from National Center for Accelerating Translational Science (NCATS) Director Chris Austin during a panel moderated by Margaret Anderson. “The bad news is that there are at least 5,000 more disease like [Addi and Cassi’s] that when doctors like me see them in the clinic, all you can say is please come back to me when you need supportive care.”

Answers are what the Hempels, and others like them, are looking for. However, because rare disease research today is so siloed and disease-specific, communication between groups is limited, leading to occasional duplication of research efforts and time wasted in a world where there’s no time to waste.

“Reach out to your fellow advocates and rally them together for rare disease research,” Hugh Hempel urged the panel’s audience, “We find ourselves fighting over crumbs from funding from the NIH…let’s work together.” 

Hempel said the biggest issue that smaller, disease-specific groups have is not working together for one ultimate purpose, cures.

Besides an insightful talk and plans for collaboration between advocacy groups, here are some outcomes from Rare Disease Week: 

• Reg4All – a “community of people storing and sharing information about ourselves, our health, and our diseases– to improve health and speed therapies across all disease.” An award granted by the Sanofi US Collaborate Innovate challenge that allowed the Genetic Alliance, CFIDS Association of America, National Psoriasis Foundation and the Inflammatory Breast Cancer Research Foundation to build the registry. 

• Boehringer Ingelheim collaboration with PatientsLikeMe on the rare lung condition idiopathic pulmonary fibrosis (IPF.) The partnership will provide “a customized experience for its users that will allow them to monitor their health and progress over time and connect with other to learn more about the condition.” 

• United States Senate agreed to resolution designating February 28, 2013 as Rare Disease Day

FasterCures was pleased to participate in RDLA's 3rd Annual Rare Disease Cocktail Reception and Movie Screening

Make sure to join FasterCures on Wednesday, March 20 for our FREE Webinar, Building New Patient-Centered Research Networks: The T1D Exchange and Registries for All Diseases and learn about: 

• The T1D Exchange, which consists of an integrated clinic network of more than 65 clinics across the U.S., a biorepository, and Glu, an online community with mobile capabilities for people touched by type 1 diabetes. Its mission is to improve outcomes in the community by facilitating better care and accelerating new therapies on the path to a cure.
• Registries for All Diseases (Reg4All), which recently won the Sanofi Collaborate/Activate challenge – a cross-disease, crowdsourced registry that promises to break down the silos between diseases and gather information from patients in a standardized way.

Time=Lives Story of the Week: The Hempel Family

“When we realized our kids had a fatal cholesterol disorder we turned to some of the foundations and the researchers to figure out what is the therapy pipeline. What we realized was that that therapy pipeline really wasn’t built.” - Chris Hempel, mother of Addi and Cassi

At age three, identical twins Addi and Cassi (Addison and Cassidy) Hempel were diagnosed with an ultra-rare and fatal cholesterol disease that affects only 500 people worldwide – Niemann Pick Type C – a condition frequently referred to as “Childhood Alzheimer’s.” 

Their parents, Chris and Hugh, noticed a drastic change in their girls and immediately started taking the necessary steps to find a cure. By becoming experts in the disease, advocating for treatment options, and not taking no for an answer, the Hempels have made medical progress happen.

 

 Watch the Hempel’s Story Here

In April of 2009, after months of work by Chris and Hugh to set up a “virtual biotech” in their home, the U.S. Food and Drug Administration (FDA) granted special permission to allow the girl’s doctor to give them intravenous infusions of 2-hydroxypropyl-β-cyclodextrin, a non-toxic sugar compound. In October 2011, the FDA granted permission to allow intratehcal injections of cyclodextrin into their spines to enable the compound to reach their brains. 

Now the family is working on a permanent solution to treat the girls, now 7. Their story is chronicled in the new documentary Here.Us.Now, a film commissioned by the Ewing Marion Kauffman Foundation.

February 25 – March 1, 2013 is Rare Disease Week, where advocates for illnesses such as Niemann Pick Type C (which affects approximately 250 to 500 people in the US) come together to bring widespread recognition of rare diseases as a global health challenge. In the U.S., any disease affecting fewer than 200,000 people is considered rare. There are nearly 7,000 rare diseases affecting nearly 30 million Americans, which means almost one in ten Americans are suffering from rare diseases.

We’re looking forward to seeing Hear. Us. Now. at RDLA’s 3rdAnnual Rare Disease Cocktail Reception & Movie Screening this evening.  Following the movie, our own Margaret Anderson will be leading a panel discussion with Dr. Christopher Austin, Director of the National Center for Advancing Translational Sciences at the National Institutes of Health; Dr. Emil Kakkis, MD, PhD, President of the EveryLife Foundation for Rare Diseases; Marc Boutin, Executive Vice President & Chief Operating Officer,  National HealthCouncil; and Chris & Hugh Hempel.

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Relevant Links:

-- Addi and Cassi Fund