Langerhans cell histiocytosis advocate Ian Brown and his mother at the NORD Gala

Megan Barron is a Duke University senior and advocate for dystrophic epidermolysis bullosa

I had the privilege of attending the National Organization for Rare Disorders (NORD) Gala on Tuesday evening. I say “privilege” for a number of reasons. First, I was invited as a guest of our client, Lundbeck, and had the opportunity to meet patients and advocates from the Huntington’s Disease Society of America and the Tuberous Sclerosis Alliance. Second, the event celebrated the 30th anniversary of the passage of the Orphan Drug Act and the founding of NORD. Abbey Meyers, who led both of these efforts, was honored, as well as the policymakers William Corr, Senator Nancy Kassebaum and Representative Henry Waxman.

The Orphan Drug Act has successfully stimulated interest in rare disease therapies. In the decade before 1983, only 10 new products for rare diseases had been developed by the pharmaceutical industry. Since then, there have been more than 400 orphan therapies and hundreds more are in the pipeline, according to NORD. Aegerion, NPS Pharmaceuticals, Onyx Pharmaceuticals and Sigma-Tau Pharmaceuticals were celebrated for their innovative therapies.
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Kudos to the many organizations and individuals who worked so hard to make this legislation a reality 

The Food and Drug Administration Safety and Innovation Act, signed into law on July 9, 2012, includes important measures for rare disease patients and families. Part of the reauthorization of the Prescription Drug User Fee Act (commonly known as PDUFA), the Safety & Innovation Act contains groundbreaking provisions for the rare disease community. It is rewarding to see that patients and caregivers will benefit from the newly signed FDA act.

As a board member of the National Organization for Rare Disorders, I am proud of NORD’s efforts to help ensure the following were included:

• Accelerated patient access to new medical treatments
• Resolution of conflict-of-interest provisions introduced in the previous PDUFA reauthorization
• Accelerated development of “breakthrough therapies” that show early promise
• Enhanced FDA consultation with rare disease medical experts
• A rare pediatric disease priority review voucher incentive program
• The development of Humanitarian Use Devices (medical devices for small patient populations)

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Frequent communications with the FDA is highly recommended throughout a project to create as smooth a path forward as possible. 

On May 17, I attended the National Organization for Rare Disorders (NORD) Corporate Council meeting in Washington DC. This was “A Day of Dialogue” with FDA senior staff and other key opinion leaders including Christopher-Paul Milne, DVM, MPH, JD, Associate Director of the Tufts Center for the Study of Drug Development and Yann Le Cam, CEO of EURORDIS, the European Rare Disease Organization.

The NORD Corporate Council meets twice a year to discuss issues and opportunities related to the development of orphan products. There was much discussion around making the drug approval process more flexible on a case-by-case basis, and developing ways to reduce failure as early as possible. Frequent communications with the FDA is highly recommended throughout a project to create as smooth a path forward as possible.

As this was a members-only event, specifics can’t be shared, but there were many valuable programs and resources mentioned that are public knowledge and can be shared.

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One doctor diagnosed me with bad luck 

The New York Times recently published an interactive feature with photos and audio of rare disease patients telling their stories. These individuals all have different disorders, yet similar themes emerged in their stories. The themes are also consistent with what we’ve learned at Siren in our work with rare disease patients. Below I’ve pulled some key quotes from the interviews, but I recommend listening to them in full. Please note that since many rare disease patients are children, that these insights may also apply to their caregivers, family and friends.

Rare Disease Patients Feel Alone and Isolated
Rare disease patients feel very isolated and, not surprisingly, seek a connection with others like them. As Wayne Brown, who has acromegaly, said: “The most difficult part of dealing with a rare disease is the loneliness… Knowing other people with the disease is the greatest thing a patient with a rare disease can have.”
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These legislative efforts will make a real difference in the lives of rare disease patients 

In a win for rare disease patients and families, the U.S. House of Representatives yesterday passed the Improving Access to Clinical Trials Act (I-ACT).  The bill, which passed the Senate August 5, goes now to the White House where President Obama is expected to sign it.

The National Organization for Rare Disorders (NORD) worked with the Cystic Fibrosis Foundation and other patient advocacy groups in support of this legislation. “This is a victory for the rare disease community,” said NORD President and CEO Peter L. Saltonstall.  “This legislation will support the development of new therapies by removing a barrier that might keep patients from participating in important research studies.”
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37% of respondents are not sure if there are FDA-approved treatments for their rare conditions. 

The National Organization for Rare Disorders (NORD) and Inspire recently surveyed members of their online rare disease community. The data is fascinating, but this jumped out for me: 37% of respondents are not sure if there are FDA-approved treatments for their rare conditions.

This shows the need for pharmaceutical companies to increase awareness of their drugs and provide more education to this target audience. The people surveyed are members of an online community, so they use the Internet. This highlights the opportunity for pharma to use the online space to reach relevant patients and provide treatment information.

The survey provides support for Siren’s insight that rare disorder patients are the primary drivers of diagnosis and treatment: 41% of respondents report that their doctors are not knowledgeable or barely knowledgeable about their disorder.

Online communities improve health
The data also reinforces the idea that online communities can play an important role in the health of people with rare diseases; 58% of respondents say that participation in the rare disease online community has improved their health.
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Yet, because there are more than 6,000 rare diseases, 1 in 10 people in this country are impacted 

Imagine that your health is failing or that your child is very ill, but the doctor can’t figure out what’s wrong. This goes on for a number of years, despite multiple visits to specialists. Then when you do get a diagnosis, you learn that you may never meet anyone else who has this disease or has even heard of it since it affects only a few thousand people. Unfortunately, this describes the experience of many people with rare diseases.

That’s why it’s so important to increase awareness of rare diseases. February 28, 2010 has been designated as worldwide Rare Disease Day to call attention to the public health issues associated with rare disorders. A rare disease is one that affects fewer than 200,000 Americans. Yet, because there are more than 6,000 rare diseases, 1 in 10 people in this country are impacted.

In the U.S., Rare Disease Day is being sponsored by the National Organization for Rare Disorders (NORD). As experts in helping organizations communicate with small patient populations, Siren Interactive is partnering with NORD to promote Rare Disease Day.

Siren designed a website and developed a social media strategy that included Facebook and Twitter to provide access for the rare disease community to the many ways that NORD offers to participate in this movement.
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Today, far too many people under the age of 65 with serious medical conditions have inadequate or no access to health insurance. 

Jason Ross, Project Manager at Siren Interactive, contributes this post:

Many Americans — especially those with rare disorders — are denied coverage by many health insurance companies. According to a recent national survey, an estimated 12.6 million non-elderly adults were discriminated against because of a pre-existing condition in the previous 3 years. In fact, 36% of those who tried to purchase coverage in the individual insurance market were turned down, charged a higher price, or excluded because of a pre-existing condition. So, what does this mean? This means that adequate health insurance is unavailable to millions of Americans, especially to those who need it the most.

In the following letter to Congress, the National Organization for Rare Disorders (NORD) advocates for health insurance reform to ensure that all Americans, regardless of any pre-existing conditions, have access to affordable, meaningful coverage:
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everything we have learned about how the human body works we have learned from people with rare disorders.  It is at that end of the spectrum that innovation happens. 

I went to the first National Organization for Rare Disorders (NORD) Summit a few weeks ago in DC and learned that ONE of the major problems with bringing more treatments to more people with rare disorders is that there is often no natural history (database) of people with rare disorders. (There are other issues, not the least of which is not enough trained scientists to develop good assays to test and not enough scientists to follow through with the research on the drug’s overall effect on humans once some likely candidates have been identified).

Rare Disorders as a Public Health Issue

First, let’s assume this is a public health issue that America should be funding.  According to Dr. Tim Cote, head of the orphan drug division of the FDA (sitting on the dais with Janet Woodcock, director of CDER, and Francis Collins, leader of the human genome project, among others), everything we have learned about how the human body works we have learned from people with rare disorders.  It is at that end of the spectrum that innovation happens. Read More

By designating a day to the awareness of rare diseases, we are giving a voice to many who feel isolated and alone. 

This is a cross post from “e-patients.net“.

One in ten Americans is living with a rare disorder, but they are often overlooked in the media, in research circles, and in their local communities. The 2nd Annual Rare Disease Day on Feb. 28, 2009, is an opportunity to change that.

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