In rare diseases it's uniquely true that pharma needs the patients and the patients need pharma 

PharmaPhorum asked Siren Interactive to write a series of blog posts about the world of rare diseases. In the six-part series, titled “Rare is different,” we’re showing how working within rare diseases is unlike other pharma markets, particularly in the knowledge and influence wielded by patients and caregivers.

I wrote the fourth post, “Rare disease patients and caregivers want pharma to participate.” As noted previously, a typical physician might never encounter a patient with a rare disease over the course of his or her entire career. It’s understandable that most physicians develop expertise to do the greatest good for the largest number of patients. This leads to many rare disease patients and caregivers becoming unusually empowered. Out of desperation they take control of their own and their offspring’s care. They look for the latest information about research, clinical trials and treatment options. They welcome pharma’s participation as long as pharma is adding value by providing the information, tools and support that rare disease patients and caregivers can’t get anywhere else.

In rare diseases it’s uniquely true that pharma needs the patients and the patients need pharma. In my post I share the stories of a rare disease caregiver and a rare disease patient, each of whom is the founder and leader of a patient advocacy organization. They have both succeeded in developing effective relationships between pharma and their own organizations. Let me know what you think in the comment section.

(Image courtesy of zeyneep on Flickr.)

these patients and caregivers are very motivated to obtain an accurate diagnosis and the best treatment 

PharmaPhorum asked Siren Interactive to write a series of blog posts about the world of rare diseases. In the six-part series, titled “Rare is different,” we’re showing how working within rare diseases is unlike other pharma markets, particularly in the knowledge and influence wielded by patients and caregivers.

I wrote the third post, “Patient and caregivers are key drivers of diagnosis and treatment in rare diseases.” As referenced in the last post, a typical physician might never encounter a patient with a rare disease over the course of his or her entire career. It’s understandable that most physicians develop expertise to do the greatest good for the largest number of patients. However, these patients and caregivers are very motivated to obtain an accurate diagnosis and the best treatment.

Earlier this year Siren Interactive published Uncommon Challenges; Shared Journeys. The book features 13 stories that provide a window into the lives of caregivers and patients battling rare diseases, revealing how each unique journey is, in fact, a shared journey. In my post I highlight a few excerpts from the book that show how these individuals came to a diagnosis and treatment plan. Let me know what you think in the comment section.

(Image courtesy of surlygirl on Flickr).

Momentum is building for additional funding for research to find effective treatments. 

On Monday more than 4 million readers received the Washington Post supplement focused on rare diseases. In addition to updates on the latest progress in the industry, content included personal stories about a few of the all-too-many children afflicted with a rare disorder who are fighting for their lives.

Momentum is building for additional funding for research to find effective treatments. But currently, less than 10% of the 7,000 rare diseases have an FDA-approved treatment. There’s much to do and it can’t happen fast enough.

This campaign was designed to help raise awareness and advocate for treatment options for the nearly 30 million rare disease patients across the United States. Siren Interactive is pleased to have participated. As an industry professional, it’s gratifying for me to see this type of exposure and collaboration on behalf of rare diseases. And as a mother of a daughter with a rare disease, it’s also very inspirational.

there are more than 7,000 rare diseases that, taken together, affect about 30 million Americans 

In the past few months, there’s been an increase in media attention to rare diseases. National Public Radio (NPR) has featured two segments on rare diseases and The New York Times had an interactive piece on six rare disease patients and the other day highlighted Charcot-Marie-Tooth disease.  Rare Disease Day (the last day of February) was also recognized by a wide variety of news outlets.  Even an episode of “Chopped All-Stars” on the Food Network featured a chef competing to win funds for a rare disease foundation.

This is quite a departure from what once could be described as an ignored, isolated group of patients and caregivers.  Are rare diseases becoming mainstream?

Though a rare disease by definition affects fewer than 200,000 people in the U.S., there are more than 7,000 rare diseases that, taken together, affect about 30 million Americans. And, as the NPR pieces discussed, this is a web-savvy, vocal bunch.  With doctors having never heard of many of the diseases, caregivers and patients alike turn to the web and social media to find out more and to find others like them.  Quickly, they become both experts and advocates.  They use any outlet they can find to get the word out, whether it is creating a foundation or a Facebook group.  Either way, they refuse to suffer quietly.

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I recommend this book to anyone who wants to understand the power that’s driving the orphan drug movement," says Dr. Coté 

I am thrilled to announce that Siren has published “Uncommon Challenges; Shared Journeys,” a collection of 13 personal stories offering intimate views into the lives of families affected by rare disorders. The narratives reveal how parents — mothers in particular — play critical roles in obtaining a correct diagnosis and appropriate treatment for children with rare diseases. The stories also show how caregivers in the rare disease community seek and use information differently from other groups and have many unmet needs for education and support.

As readers of this blog know, my daughter has a rare disorder, and I compiled the anthology and shared my own family’s story. Dr. Timothy Coté, director of the FDA’s Office of Orphan Products Development, says the book “strikes straight to the heart of the matter” by focusing on patients and their families. “Academics talk molecules, industry talks revenues, government talks regulations, but parents’ words of their heartbreaking love for their children with rare diseases are the truest words of all.”

“I recommend this book to anyone who wants to understand the power that’s driving the orphan drug movement,” says Dr. Coté.
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Each person possessed a different perspective and relationship to rare disease but everyone shared the goal of finding a cure 

This guest post was contributed by Ladia Cheng, PharmD.

A day I spent in Bethesda, MD on September 21, 2010, produced interesting encounters and fascinating stories. The second biannual Conference on Clinical Research for Rare Diseases began with introductions of the participating speakers/panelists.

Peter Markel, MD, MPH (Professor of medicine, Boston University School of Medicine) stated the number of people in the U.S. affected with a rare disease approximates 25-30 million or 8-12% of the U.S. population. However, the number of people in each of the 7,000 rare diseases may range only in the hundreds. Hence, the conduct of clinical trials in rare diseases often requires a consortium (e.g. Clinical Translational Research Association of Oregon Health & Science University).

There are currently 19 consortia throughout the U.S. collating patients, funding, publications and investigators for rare diseases such as Takayasu’s Arteritis, Wegener’s Granulomatosus and Microscopic Polyangiitis.
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a destination to help undiagnosed AIP patients and their physicians identify symptoms consistent with AIP 

Can you imagine knowing you are ill but going several years before receiving a diagnosis? Unfortunately, this may be the case for some patients with Acute Intermittent Porphyria (AIP), a serious disease that is rare and may present a diagnostic challenge. AIP mimics many more common conditions. Lack of awareness by physicians can also delay diagnosis and management of the disorder. For some patients, this can lead to years of pain, confusion and emotional distress.

Siren recently collaborated on an informative website for a client specializing in rare diseases, providing a comprehensive resource on AIP (www.AIPorphyria.com) for patients, caregivers and physicians. The site also provides a destination to help undiagnosed AIP patients and their physicians identify symptoms consistent with AIP.

“For even some of the best minds in medicine, AIP can be puzzling,” says Desiree Lyon, Executive Director of the American Porphyria Foundation. “When the disease isn’t recognized, patients are often given medications that worsen their condition or undergo unnecessary surgeries, so bringing attention to AIP is critical.”

Educate, don’t sell
AIPorphyria.com is an example of one of Siren’s key principals: educate, don’t sell. Content on the site includes information on the signs and symptoms of AIP, testing for the condition, recognizing triggers and working with a physician. Information tailored for healthcare professionals provides detail on a variety of topics, including how to diagnose and suggestions on managing those with AIP.

There are approximately 7,000 rare diseases affecting an estimated 30 million Americans 

The powerful new Harrison Ford movie, Extraordinary Measures, is based on a true story about a family struggling with a rare disease. In 1998, two of John and Aileen Crowley’s children were diagnosed with Pompe Disease, a rare, inherited disorder that disables the heart and muscles. When the Crowley children were diagnosed there were no medicines to treat Pompe Disease.

John Crowley raised more than $100 million dollars to launch biotechnology companies to develop the cure. In the movie Brendan Fraser portrays John Crowley and Harrison Ford plays a composite of the researchers and scientists that collaborated with John to find a treatment.
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The first year of SirenSong was a great exercise, filled with a lot of learning and stimulating conversation. And I plan to expand virtually every aspect of the blog in 2009.

It’s my mission to provide you with the best news and opinions about the future of healthcare eMarketing, especially for the rare and chronic disease communities.

In 2009, expect to see the following:

• On SirenSong, we want to further explore the connection between diseases and online activity, especially in the case of rare or chronic diseases.
• We will explore online relationships – i.e. how patients talk to one another, how groups of patients can unite to promote public health issues, how the online channel affects the doctor-patient relationship, how patients with chronic diseases differ from other patients in their online activity, etc.
• We will report on the changing use of search for online health information seekers.
• And finally, we will share insights garnered from our work within these small patient populations and with the physicians who treat rare and chronic diseases – all with the intention of improving how we all communicate and how we all encourage wellness in our communities.

I hope you join me here every week. Your comments are always welcome – you can leave a comment by clicking the button below this post.

Join me in 2009 – it is sure to be a year of discovery.

(Image courtesy of Mosieur J. via Flickr)

I heard a doctor/investment banker speak a few weeks ago at a conference on why he is investing in orphan and specialty pharma.

His belief is that the niche market in pharma is growing because it is becoming increasingly difficult to find new therapies that treat major disorders/diseases that are not too complex in nature which present significant challenges to successfully becoming blockbusters.

However, there are still opportunities for therapies that treat disorders in small patient populations, especially since the release of The Orphan Drug Act which is 25 years old this year:

The Congress finds that—

1. there are many diseases and conditions, such as Huntington’s disease, myoclonus, ALS (Lou Gehrig’s disease), Tourette syndrome, and muscular dystrophy which affect such small numbers of individuals residing in the United States that the diseases and conditions are considered rare in the United States;
2. adequate drugs for many of such diseases and conditions have not been developed;
3. drugs for these diseases and conditions are commonly referred to as “orphan drugs”;
4. because so few individuals are affected by any one rare disease or condition, a pharmaceutical company which develops an orphan drug may reasonably expect the drug to generate relatively small sales in comparison to the cost of developing the drug and consequently to incur a financial loss;
5. there is reason to believe that some promising orphan drugs will not be developed unless changes are made in the applicable Federal laws to reduce the costs of developing such drugs and to provide financial incentives to develop such drugs; and
6. it is in the public interest to provide such changes and incentives for the development of orphan drugs.

The National Organization for Rare Diseases (NORD) website reports that there are 300 orphan drugs on the market today with another 1,100 being developed. In a previous post I blogged about the industry moving from Blockbuster to Nichebuster and reports show that it is niche therapies that are seeing the most growth in the pharma market.

One of the stumbling blocks for pharma, however, is learning to operate in this new environment. It is impractical to mass market specialty pharma to small groups of patients in the same way they have with blockbuster therapies.

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