Rare is different: rare disease patients and caregivers want pharma to participate

Wendy White

Siren Interactive

(Continued from “Rare is different: patients and caregivers are undisputed “power users” of social media”)

The constraints of time and training limit most physicians’ abilities to effectively diagnose and treat rare disorders. 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. Empowered patients can and often do play a lead role in educating physicians on various aspects of rare diseases. They look for the latest information about research, clinical trials and treatment options. They don’t want to wait. 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 this blog post, the fifth in a six-part “Rare is different” series, we’ll hear from a rare disease caregiver and a rare disease patient, each of whom founded and leads a patient advocacy organization, and has developed effective partnerships with pharma. They’ll share their perspectives on building a trusted relationship with pharma based on each party providing the other with access to information and opportunities that address their needs.

"Empowered patients can and often do play a lead role in educating physicians on various aspects of rare diseases."

Rare disease patients need pharma

Christine Brown is the parent of three boys, two of whom have phenylketonuria (PKU). She’s also the executive director of the National PKU Alliance. PKU is a rare, inherited, metabolic disorder diagnosed at birth through newborn screening. People with PKU can’t metabolize the amino acid phenylalanine, which is found in all protein foods. The current treatment for the disorder is a combination of medical foods and foods that are modified to be low in protein, as well as one prescription medication.

“Pharma companies really have the same goal as the patient community, and that is to find better treatment options as well as to find cures for these diseases,” said Christine. “I’ve found that pharmaceutical companies in the rare disease space can be very vital partners for nonprofit organizations working with patients and their families. Those partnerships are very important since it’s the only way we’re going to find cures for PKU, or better treatment options for PKU or other rare diseases. With those partnerships in place, we can work together and improve the lives of people living with rare diseases. I think it’s a real win-win.

Figure 1: Christine Brown with her husband and sons

“When you look at the history of effective rare disease therapies in this country, it’s been the result of parents, family members and others who have come together and really driven the research into these diseases that led to treatment options, which led to cures,” Christine continued. “By leveraging the expertise of some of the larger national organizations you can help to create a connection for patient families and caregivers to various pharmaceutical companies, as well as within the National Institutes of Health and the FDA and others. It’s really a very unique community. It’s a very personal and close-knit community.

"When you look at the history of effective rare disease therapies in this country, it’s been the result of parents, family members and others who have come together and really driven the research into these diseases..."

“The first prescription drug to treat PKU came on the market in 2008,” explained Christine. “Although it’s not a cure, it allows some people to increase the natural proteins that they can take each day. It’s estimated that 80% of adults don’t adhere to their dietary therapy and therefore have higher phenylalanine levels than what is recommended. So now some are able to take this pharmaceutical drug that lowers their blood phenylalanine levels. It’s been wonderful to have the first drug approved for the treatment of PKU. It’s another tool in the toolbox that may be helpful for both adults and for families that have children with PKU.”

Christine Brown has developed a very effective partnership with pharma. Listen to her advice for rare disease patients and caregivers and hear what else is needed for pharma to participate more fully by clicking on the “play” button below.

Pharma needs rare disease patients

In addition to being a rare disease patient and advocate for people with acromegaly, Wayne Brown is the founder of Acromegaly Community and author of Alone in My Universe: Struggling with an Orphan Disease in an Unsympathetic World. Acromegaly is a chronic rare disease characterized by enlargement of the bones of the head, the soft parts of the feet and hands, and sometimes other structures, due to excessive secretion of growth hormone by the pituitary gland.

Figure 2: Wayne Brown

“Pharma reached out to me long before I was officially any sort of patient advocate,” recalled Wayne. “My organization began as a MySpace and Facebook group. I was just looking for people like me to talk to because I was struggling with the disease and its rarity. In 2008, a PR representative from one of the pharmaceutical companies contacted me about creating a patient advisory board.”

Because of the relationship Wayne has built with pharma, there’s an open exchange of communication when he and other acromegaly patients attend pharma events. Likewise, pharma’s presence at patient events helps pharma to better understand the patients and the disease from the patient perspective.

"We need to have a relationship between rare disease patients and pharma that’s beneficial to all of us..."

“I love when pharma looks for feedback from their patients and from potential patients,” explained Wayne. “Because once you actually sit across the table from another person, then and only then can you truly understand how the disease affects him or her in a three-dimensional way, and how it affects spouses and, in some cases, how it affects their children.”

Words of wisdom from Wayne

• “I think the greatest tool pharma can have is greater knowledge of the patient outside of what’s written on the printed page, to really talk to and communicate with patients.”

• “We need to have a relationship between rare disease patients and pharma that’s beneficial to all of us. It’s like with any relationship. As soon as it’s too one-sided, then someone’s being hurt and there’s no point in maintaining the relationship.”

• “I think part of the role of an advocate is making sure you’re getting pharma what they need. They need to sell their drug, and that’s a good thing because the more they sell their drug, the more they’re going to be able to help us. If I’m a patient advocate saying, ‘I need you to do this, this, and this, but I’m not going to help you sell your medication, I’m not going to do anything to inform the patient that this drug is available,’ there’s no reason for pharma to work with us.”

- Wayne Brown

Learn more about the partnership that’s been formed between Wayne Brown and pharma by clicking on the “play” button below.

Building a rare partnership

Pharma can participate and provide value to rare disease patients, caregivers and online communities by:

• Listening to what patients need

• Providing patient-friendly information that's pertinent to the needs of patients and caregivers

• Supporting online resources and communities for patients and caregivers

• Sponsoring research for new therapies

• Working for approval of new therapies

• Supporting patient advocate group initiatives

Rare disease patients and caregivers are a gold mine of information and welcome opportunities to partner with pharma in building awareness of rare diseases and working toward the discovery of new treatments and cures. Pharma needs to open up the dialogue with them and respond with timely, relevant information.

Part 6, the final post of this series—“Rare is different: innovation happens at the margins”— can be viewed here.

About the Author

Wendy White founded Siren Interactive in 1999. Under her direction, the agency has grown into the market leader for niche pharmaceutical relationship marketing, focused on providing value to patients, caregivers and healthcare professionals through relevant online content about therapies that treat chronic, rare disorders.

Wendy’s daughter, Casey, suffers from a rare genetic disorder, nail-patella syndrome. Wendy’s personal tribulations surrounding Casey’s disorder have influenced her to become a true advocate for her daughter and other children with rare diseases and disorders. Over the years she has expanded her relationship with other mothers and caregivers of children with rare disorders, as well as foundations, the medical community and the National Organization for Rare Disorders (NORD). Furthermore, she refocused Siren Interactive into a full-service relationship marketing agency for rare disorder therapies.

Recently, Wendy led the collaboration of 12 fellow rare disease caregivers to coauthor Uncommon Challenges, Shared Journeys: Stories of Love, Hope and Community by Rare Disease Caregivers. Wendy serves on the global board of the Healthcare Businesswomen’s Association (HBA) and is a board member of the National Organization for Rare Disorders (NORD), a Trustee of the Boys and Girls Club of the Union League Club of Chicago, and an Elder in the Presbyterian Church. She holds a Bachelor of Science in Quantitative Methods from the Indiana University College of Business.

For more information, email Wendy at wwhite@sireninteractive.com, or visit http://sireninteractive.com/.

How can we build a relationship between rare disease patients and pharma that’s beneficial to everyone?