Friday, April 26, 2013

Editor' Note: this is the first in a great series of Rare Disorders Articles from Siren Interactive

Rare is different: how empowered patients and caregivers are changing marketing for rare disorders

Posted 21st July 2011 in Articles 

Wendy White
Siren Interactive
In a six-part series titled “Rare is different,” we’ll show you how the world of rare diseases is unlike other pharma markets, particularly in the knowledge and influence wielded by patients and caregivers.
You’ll learn about these differences through the personal stories of rare disease caregivers. We’ll also examine why physicians usually have little knowledge of rare disorders, discuss the role of organizations like NORD and EURORDIS in raising awareness and empowering patients, and explore solutions for ensuring the success of pharma marketers.

We’ll give you critical insights into how rare disease patients and caregivers want pharma to become involved in their communities. And we’ll take a look at innovation that’s happening at the margins.
“…rare disease patients and caregivers want pharma to become involved in their communities.”

Join us. We look forward to your participation and your comments.

Part 1
Rare disorders are a fast-growing segment of the biopharmaceutical market, due largely to advances in genomics and proteomics and less reliance by pharma on the “blockbuster” product. But marketing in rare disorders has special requirements. Rare is different in many ways, but especially in the power and influence of patients and caregivers, mothers in particular.
There is no “one” rare disease market; each disorder is its own small and extremely powerful community. Successful marketing requires a deep understanding of each community’s unique needs – and the realization that pharma’s participation is important and welcome.
As relationship marketers for rare disorder therapies, we at Siren have gained some distinctive insights into needs and challenges in this space. Many of these insights are brought vividly to life in a collection of personal stories we recently published titled Uncommon Challenges, Shared Journeys: Stories of Love, Hope and Community by Rare Disease Caregivers (
One of the most important things we’ve learned is this:

Many patients with rare disorders are not diagnosed by doctors, nurses, or researchers but by a fierce and driven group of extraordinary detectives known as mothers.”

I should know. I’m one of them.

“There is no “one” rare disease market; each disorder is its own small and extremely powerful community.”

When my third child, Casey, was born, there was trouble right from the start. I heard the doctors and nurses talking to each other about a club foot and low blood count. Then they whisked her away to a teaching hospital for more tests.

I felt numb and out of control.

After four months in and out of the hospital, I made an off-hand comment about Casey’s dimpled knees. My statement made something click for the surgeon. An MRI determined that she didn’t have kneecaps and, though she would probably walk, climbing stairs could be a problem.
This was a painful moment. I must have visited 10 hospitals, and I read everything I could get my hands on about knees and blood and club feet. I spent a huge amount of time following promising threads on the Internet.

Then I found a paper by a researcher who had identified the genetic marker for a rare disorder called nail-patella syndrome. Tracking him down at Johns Hopkins, I talked with him at length.
At my next visit with Casey’s doctor, I laid out all the information I had found on the Internet and told her about my conversation with the researcher at Johns Hopkins. She took my papers and went into the back of her office. She returned five minutes later and said, “I think you are right, I think she has nail-patella syndrome.”

“Many patients with rare disorders are not diagnosed by doctors, nurses, or researchers but by a fierce and driven group of extraordinary detectives known as mothers.”

There are 8,000 rare disorders

My experience with Casey is typical of the stories we hear over and over again from rare disease caregivers. By some estimates, rare disorders affect 1 in 10 people, and 50 percent of them are children. There are potentially 250 million people in the world with rare disorders. And there are millions more mothers, fathers, and grandparents looking for answers, searching for any information they can find to make sure they are doing the best they can for their children, whatever the outcome.
My personal journey with my daughter led me in a new direction for my company, Siren Interactive. Our entire focus is on growing the relationships among all of those who are working to support people with rare disorders.

Two years ago I joined the board of the National Organization for Rare Disorders (NORD), the U.S. version of EURORDIS (Rare Diseases Europe). We helped the organization launch Rare Disease Day in the U.S., and last year introduced an awareness campaign called Alone We Are Rare, Together We Are Strong.

“Like many caregivers, I have found that having a child with a rare disorder has become the focal point for everything I do.”

Like many caregivers, I have found that having a child with a rare disorder has become the focal point for everything I do.

How pharma can be a trusted partner

Knowledgeable, passionate, and empowered by technology, rare disease patients and caregivers can be extremely influential allies for pharma companies working in the area. They will crusade tirelessly to raise disease awareness, mobilize resources to find new treatments and cures, and push hard for access and funding.

They are also undisputed power users of the Internet in seeking disease information, forming relationships, and sharing resources and support (see

For pharma marketers to succeed in this arena, they must:

• Be part of rare disease communities. Get involved. You share common goals. But never compromise the trust that patients, caregivers, and physicians have in you.
• Gain a deep understanding of patient and caregiver populations. Generalizations won’t work because each rare disease is unique. Listening, however, will work, giving you the insights you need for effective two-way communication.
• Share information with these communities They’re desperate for knowledge, and information is scarce and not readily available.
• Support physicians in overcoming the challenges they face. Most have very little training or experience in diagnosing and managing rare disorders, so you can be a valuable resource to them.

About the author:
Since founding Siren Interactive in 1999, Wendy White has been recognized as a thought leader at the intersection of niche pharma brands, patient empowerment and online marketing. Her vision for how the Internet can facilitate interactions and provide crucial information that patients, caregivers and their healthcare providers previously struggled to find has propelled Siren to the forefront of relationship marketing for rare disorder therapies. For more information, email Wendy at or visit

Sunday, April 21, 2013

Rare Disease Forum Newsletter No. 1

Editor's Note: This post is a followup on our The World Rare Disease Day that I coordinated.

Rare Disease Forum Newsletter
Sponsored by
Albany Medical Center and College

April 21, 2013


I think we shared the same sentiments at the World Rare Disease Forum held at the Hilton on New Scotland Avenue, sponsored by Albany Medical Center and Albany Medical College on February 28, 2013. For me it was great success and that was based on the energy and the bonds created. It resulted in a lot of action. 


It was great and represented patients, family, caretakers, therapists, public health nurses, special education teachers, agency heads and staff, support staff from AMC, medical supply companies, representatives of small foundations and physicians. We estimate there were about 85 in attendance. Its success can be measured in what has transpired since.

NYS Senate Resolution

 Mark O’Rourke of Vertex Pharmaceuticals brought to the attention of the NYS Senate our efforts and they passed a resolution designating February 28 World Rare Disease Day opening the door to introductions to the Health Committee Chairpersons in the Senate and Assembly for possible collaboration on Rare Disorder issues, including a bigger and better World Rare Disease Day next year.

Documentary Film on Rare Disorders in Planning Stages

In my research on rare disorders, I took notice that outside the rare disease community itself very little is known of the magnitude of this world wide public health crisis. Although there are extensive efforts of many groups to bring attention to individual rare disorders, there is little grasp of the magnitude of the problem as a whole. I became acquainted with James and Maureen Tusty of Sky Films a few years ago when I saw their award winning film, The Singing Revolution at the Sand Lake Arts Center. So a few weeks ago I contacted them to inquire as to their interest in producing a documentary on rare disorders. They responded, we met and we now have a formal proposal, for a three part mini-series being considered by two major funding sources. The distribution plan is nationwide and includes all major markets and networks. Hopefully it will bring focus to our efforts at AMC.

New Report on Rare Disorders

On April 9, 2013, Shire Pharmaceuticals released a Rare Disease Impact Report. Their most important findings are alarming: patients and families reported it takes on the average over 7.5 years to get a correct diagnosis; that it takes seeing 8 physicians to do so; and in the process get an average of 2.5 incorrect diagnoses.
Given the current practice model of medicine, the alarming costs, fiscal restraints faced by the system and the pervasive shortage of pediatric specialties, this problem is only going to get worse. The problem we face is how to step into this breech. 

Stepping into this Breech

The problem we face as participants in the World Disease Day Forum is not just the support of patients and families but the widening breech in diagnosing rare disorders, and how we fill it.  It is estimated that the total population falling into the rare disease category is 30 million in the US alone. This qualifies as a serious public health crisis. Of course the diagnosis of a rare disease does not guarantee either a cure or adequate treatments, but 8 physicians over 7 years is far too long. However there are number of efforts going on at AMC to fill that gap.

Creating a Complex Care Unit

Dr. Malone, one of our speakers, introduced me to Nedda Hobbs MD at the Complex Care Unit at Boston Children’s Hospital. His purpose was to learn about the methodologies BCH utilizes to address rare disorders. I am in process of scheduling a meeting with them now.

Outpatient Medical Home for Rare Disorders

Dr. Malone has provided the conceptual outline for centralized outpatient service for rare disorders and we are going to see if we can put together a task force to move it forward.

Support Group Beginnings

 In my next report to you I may be able to report to you that we have the design for the beginning of a referral process for cases that are a priority for the support process. We are working on it now.  
Volunteer Panel to Review Potential Rare Disorders

In this day and age of instant communication the efficacy of acquiring knowledge and sharing opinions is increasing exponentially each day. When it comes to rare disorders, the vast majority are known, just known by only a few specialists and the practitioners who may be part of the referral process. One is not likely to forget about being part of that process. Linking that small but rare community of professionals would add an enormously valuable asset to the rare disease community. Imagine a corporation like Google using its search engine to evaluate medical literature combined with a technology linking all those who have diagnosed rare disorders. This is concept I am proposing to some pharmacy companies, since they have the assets to push such an idea.
Conference on Rare Disorders

I am looking into the possibility of doing a conference on rare disorders, with the assistance of NORD (National Organization of Rare Disorders) and the Shire drug company who just did the recent report. I am going to ask that NORD help us with patterns and causes of rare disease conditions. I am going to ask Shire if they could assist us with the impacts of rare diseases upon patient’s families, researchers and the medical community.

Journey Program and Brave Will Foundation

I think everyone in interested in rare disorders would be interested in viewing this video. At the 2nd Annual Evening of Will Power held on Saturday, April 30, 2011, the following video was shown to better explain the mission and goals of the Brave Will Foundation. The video explains more about the Journeys program at Albany Medical Center, which the Foundation proudly supports.

Diagnostic Dilemmas

Dr. Dufort has informed me that there may be a proposal forthcoming from her colleagues who are pediatric hospitalists. They would like to institute a program to expedite difficult diagnoses that they often face

April 21, 2013
Ed Fennell

Saturday, January 26, 2013

Albany Medical Center and Albany Medical College Forum On Rare Disorders

A few months ago I considered hosting a series of Global Genes Project sponsored RARE Meetups that are designed to connect patients and families to share experiences, knowledge and gain support. As I was considering how to begin, it occurred to me that the efficacy of such a project would be immeasurably enhanced if it were hosted and sponsored by local medical centers, hospitals and medical colleges.

So began my odyssey of gaining the support Albany Medical Center and Albany Medical College in Albany, New York.

As a grandfather and caregiver to two special needs girls my family shares the same burdens thrust upon millions of patients and caregivers throughout the world. Although we consume medical services frequently we feel isolated from it. We have diseases and syndromes, little understood and often neglected. More often than not we get the best advice and answers from our peers. And all too often we forget that as the front line of long term chronic care, we are experts.

Its official, Feb 28, 2013 World Rare Disease Day 4-6 PM, at the Hilton Garden Inn, Albany Medical Center and Albany Medical College  will host a reception to announce a forum that will focus on rare disorders.

As a grandparent who cares for two beautiful little girls with rare disorders my family is fortunate to have met physicians who really get it. One of them who helped me put this over the top said:

As a Pediatric Infectious Diseases physician I often care for patients (and their families) who are medically complex and have rare conditions. I, of course, care for the patient with regards to some of their infectious disease complications. With that said, I also have found it saddening and frustrating to see how often the patients and families face enormous challenges in navigating the healthcare system and advocating for the patient and their family in addition to all of the medical issues that they have to address. I often find that I am trying to assist, without the resources to do so in an appropriate and effective fashion. When Mr. Fennell put forth this proposal, I could not be happier to see an advocate for these children, and a path forward that could potentially alleviate suffering and improve quality of life on many different levels. I agree that this would be a wonderful opportunity for faculty, residents and students to become involved, in addition to the resource it would serve for families in our region. I would consider this unique in medical centers and relatively ‘cutting edge’. I full endorse this initiative and would be proud that this could stem out of Albany Medical Center and College.  

I would like to ‘cc’ Dr. Clark, our Chair of Pediatrics. Also, if this receives the support it deserves and moves forward, it could be a potential opportunity for interested residents and medical students for potential collaboration. I have ‘cc’ed the pediatric student and residency program directors as well.

Those words were penned by Elizabeth Dufort, MD, Emily's physician. She will address the reception.

We will soon commence a series of support group meetings and forums bringing together patients, families and caregivers with medical staff focusing on complex care disorders.  

Monday, November 12, 2012

Update on the Girls and an Upcoming Project

Editor's Note: It has been a while and it is about time to update on the girls and announce a new venture we are about to undertake.

Haley Elizabeth Hilt
born: January 4, 2007

Haley, our CDKL5 girl is about to turn six. She is a student at the Red Mill Elementary School in the East Greenbush School District near Albany, New York. Our goal in moving to our present location was to find the best placement possible and we can now say that we more than achieved our goal. On her second day in her new school the teacher wrote in her notebook: "Wow, she sure is opinionated and I love it". They searched old equipment out and go her a "sit to stand" chair, allowing her to go to the board and pick out colors and symbols with the other children, which she proudly does. She also tries to wear out her switch symbolizing "eat" on birthdays when the cupcakes show up. And next week she is being tested on one of the most most advanced eye gaze systems out there. She is off the ketogenic diet and we have yet to find a food she doesn't like. She is especially fond of the pumpkin bread at Stabuck's and loves her Sunday dates with Poppy at the pool. She is also in line for her own swimming pool from the "Make a Wish Foundation" and will be off to Disney Land with her parents in the spring. Her health is excellent although we still battle seizures which will be a lifetime struggle. In sum she turning out to be a proud young lady who eagerly sits in the front window watching for her school bus to approach. And Poppy who let go driving her to school, proudly sits there with her.

Emily Lynne Hilt

Emily is about to turn two in a few weeks.She has not had a brush with infection since June. She is a hale, hardy, walking, talking, bright and very healthy girl as her picture demonstrates. She has avoided major complications that one might expect for a short bowel syndrome child (10-12 centimeters of small intestines remain). She tolerates all the usual procedures that come with a permanent central IV line, an ostomy bag and gastro tube. We are blessed.

Our New Project 

Haley is six and stunningly beautiful, has a rare genetic disorder called CDKL5. and, in all likelihood will never walk or talk, but communicate she will when her new computer arrives. Emily is 2 and lost all but 10cm +- of her small intestines and a portion of her large intestines at 2 days old. This ranks her as one of the more severally affected short gut syndrome children in the world.To live she requires a permanent IV line, a tummy tube and an ostomy bag. We deal with a rare, for sure.

The sixth annual World Rare Disease Day will be held on Thursday, February 28, 2013. On this day, various activities take place in the United States, Europe, Russia, Japan and elsewhere around the world. I will be organizing this areas first R.A.R.E. Meetup Meeting in January 2013. It is sponsored by The Global Genes Project.   Its purpose is to support those afflicted and their caregivers, educate physicians and health facilities, and advocate for greater progress on rare disease treatment and research. I believe we need to unite.

Rare and genetic diseases affect 1 in 10 Americans, 30 million people in the United States, and 350 million people globally.  Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes.  The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.

It is estimated that 95% of all rare diseases do not have a single FDA approved drug treatment, and there are currently less than 400 treatments approved by the FDA  for the nearly 7000 rare diseases which have been identified. According to estimates from the NIH, it will take 10,000 years at the current rate of FDA drug approvals to find therapies for all people suffering from rare and genetic diseases. We will keep you up to date.