Rare is different: patients and caregivers are key drivers of diagnosis and treatment in rare diseases

Katie Mihelich

Siren Interactive

(Continued from “Rare is different — why doctors are often stumped by rare disorders”)

Fifty percent of rare disease patients are children and 80 percent of rare disease patients are diagnosed during childhood. Logically, caregivers—mothers in particular—play a major role in obtaining proper diagnoses. The rare disorders online community consists of numerous disease-specific communities dominated by two key groups: parents trying to save and improve their children’s lives, and patients looking for support in their search for an accurate diagnosis and effective treatments.

In part three of our “Rare is different” series of posts, we provide an up-close-and-personal perspective on how patients and caregivers drive the diagnosis and treatment of rare diseases. Earlier this year Siren Interactive published Uncommon Challenges, Shared Journeys–Stories of Love, Hope and Community by Rare Disease Caregivers. 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. All profits are being distributed among the rare disease groups affiliated with the book authors.

“Logically, caregivers—mothers in particular—play a major role in obtaining proper diagnoses.”

We’ve selected excerpts from a few of the stories in the book that provide testament to the focus of this blog post. Every rare disease patient and caregiver has a very personal and unique story that he or she is living every day. What follows is representative of thousands of rare disease patients and their caregivers and families around the world who are fighting an ongoing battle and driving the diagnosis and treatment of their rare diseases.

From desperation to clinical trials

“We had to create all of this. There was no research and no foundation. In the past, individual researchers would do a project, publish a paper, and then move on,” explains Lori Sames, whose daughter, Hannah, was diagnosed with Giant Axonal Neuropathy (GAN), a rare genetic disorder, in 2008.

In our last blog post, we announced that Lori is currently looking for GAN patients from around the world to participate in a natural history study to reveal clinical endpoints by which efficacy of treatment will be measured during the clinical trial. She can be reached at lorisames@yahoo.com or 518-383-9053 (USA).

Leading up to this monumental accomplishment, Lori and her husband, Matt, organized a GAN symposium in 2008 for 22 scientists who agreed to develop a gene therapy. Matt and Lori also established Hannah’s Hope Fund to raise awareness and research money, which has resulted in the development of a gene delivery treatment. A final round of testing is being performed before embarking on safety studies required by the FDA to begin a clinical trial.

“You know someone has to be first. Someone has to be the first to be cured,” said Matt Sames in response to the initial news that there was no treatment or cure for his daughter, Hannah. That determined spirit and grit are admirable, and sometimes unbelievable – yet common among rare disease patients and caregivers.

“When we stand up and fight for our kids, we can make amazing things happen.”

The powerful love of a mother

“I had so many questions and very few answers. As I stepped out of the hospital’s X-ray area, I immediately called my friends and asked them to start Googling,” recalls Catherine Calhoun. Her urgent and relentless search for information online led to diagnosing her son, Billy, with McCune-Albright Syndrome, a genetic disorder of bones and skin pigmentation that causes hormonal problems.

As a parent of a child with a rare disease, Catherine describes herself as initially being really scared as she started the process of diagnosing and treating her son. But before long she became very proficient at communicating with medical professionals and now is a self-proclaimed “whip-ass patient advocate.”

Catherine shares more of her story on this podcast, which is accompanied by a few slides.

“Research into pharmacological interventions has stopped or halted the progression of the disease in all of the children treated.”

A fighting chance

Jordana Holovach believes, “When we stand up and fight for our kids, we can make amazing things happen.” She definitely walks the talk. At six months of age, her son, Jacob, was diagnosed with Canavan Disease, which prevents the normal formation of white matter that acts as a transmitter of impulses from the brain.

Doctors told her that she wasn’t going to find a team of physician specialists to help her, and that the disease was too rare to warrant significant federal funding. “Essentially I was told I would have to do everything on my own,” says Jordana.

In response, she found a scientist who was doing research on the disease, and in 2000 Jordana founded Jacob’s Cure, a nonprofit that has raised more than $10 million during the past 10 years. She also led the fight that won approval for two gene therapy trials. Research into pharmacological interventions has stopped or halted the progression of the disease in all of the children treated. Moreover, this research has contributed to advancing treatments for more mainstream diseases including Parkinson’s, MS and ALS.

Jacob’s Cure is currently funding a cutting-edge stem cell trial that aims to further treat or cure children with Canavan Disease. When Jacob was diagnosed, there was nothing—no pharmaceutical regimen, no clinical trials, no research towards a cure. Acknowledging the progress made, Jordana says, with a mix of pride and humility, “Now, our clinical trial could revolutionize the treatment of brain disease.”

Life after life

In February of 2009, just two months after the death of their son Greyson, Nicole and Bill Morris were meeting with Texas legislators penning a bill to increase the number of diseases to include in newborn screenings.

Greyson was diagnosed with Krabbe Disease—a rare, inherited degenerative disorder that breaks down the nerves’ protective myelin coating and destroys brain cells. He passed away on Dec. 12, 2008, six days shy of his first birthday.

“It’s necessary for pharma marketers to acknowledge and respect the elevated level of empowerment that’s not optional—but required—of rare disease patients and caregivers.”

On June 19, 2009, the selfless and persistent efforts of Nicole and Bill Morris resulted in Texas Gov. Rick Perry signing HB 1795 establishing Greyson’s Law to expand newborn screenings in Texas to diagnose Krabbe Disease and multiple other disorders. Although the state has recently cut the budget for the resulting program, funding was available for the Newborn Screening Committee, which was created as part of Greyson’s Law to assess and improve the newborn screening program.

Greyson’s older brother, Seth, also has a rare disease—Phenylketonuria (PKU). He was diagnosed when he was 11 days old through newborn screening. Fortunately, PKU is extremely manageable when diagnosed early and today Seth is healthy and active.

The Morris family has established Grey’s Gift Memorial Foundation with a mission to educate physicians and parents about newborn screening, thereby saving thousands of little ones from death or disability.

“Greys’ gifts are many,” reflects Nicole Morris on the life of her son. “But his greatest gift to me was being the only one in this whole world that he called ‘mama.’”

The Morris family shares their story in this video.

It’s necessary for pharma marketers to acknowledge and respect the elevated level of empowerment that’s not optional—but required—of rare disease patients and caregivers. Out of necessity, they are self-made experts on their own or their child’s disease and:

• Play critical roles in obtaining correct diagnoses and appropriate treatments.

• Drive a substantial amount of rare disease education and research.

• Form nontraditional relationships and networks with researchers, healthcare professionals and third parties, such as government agencies and advocacy organizations.

• Lead the charge in raising awareness and funds to discover new treatments.

• Have many unmet needs that pharma could help fill

Part 4 of this series –“Rare Is Different: Patients &amp, Caregivers Undisputed ‘Power Users’ of Social Media” – will be published on 27th October.

About the Author

As Vice President of Account Services at Siren Interactive, Katie Mihelich is responsible for building effective client relationships, directing account strategy, and leading the development of rare disease online marketing programs that leverage the power of MicroTargeting™ to drive new patient starts and lifelong adherence to therapies.

She has supervised the development and execution of numerous rare disease marketing programs with ROI-positive results for a variety of healthcare organizations including Baxter Healthcare, Endo Pharmaceuticals, Novo Nordisk, Genzyme and Medtronic.

Katie is an alumna of Kellogg School of Management at Northwestern University in Chicago and holds a Master’s degree in Integrated Marketing Communication and a Bachelor’s degree in Public Relations and Marketing from Drake University in Iowa. She was honored by the Healthcare Businesswomen’s Association as a 2007 Rising Star.

For more information, email Katie at kmihelich@sireninteractive.com or visit www.sireninteractive.com.

Do you see pharma marketers recognising the elevated level of empowerment of rare disease patients and caregivers?