Last week I had a fascinating phone conversation with rare disease advocate, Ed Fennell. Full of energy, he is helping to care for 2 young granddaughters – each with a rare disorder.
Hayley, who is now 6 years old, had her first seizure at 6 weeks old. It took 2 years for the family to get a diagnosis of CDKL5 Atypical Rett Syndrome. Hayley has very few physical illnesses, but has severe developmental delays. Fennell is hopeful that she will be able to communicate 1 day using eye gaze technology.
Two-year-old Emily lost 98% of her small intestine and has Short Bowel Syndrome. She has a permanent IV line, parenteral feeding and ileostomy bag. Emily is thriving, but they are constantly on guard for infection.
Fennell is mostly retired after a 35-year career running a private consulting business on labor issues. He now spends his days helping to care for his 2 granddaughters. When Hayley started school last year, Fennell found himself with time on his hands. Instead of relaxing, he decided to take action. He wrote a letter to the local teaching hospital, Albany Medical Center, that described the importance of rare disorders and that the hospital should get involved. “I described how rare disease families wait too long for a diagnosis, don’t know where to go for care and need to be handled with greater efficiency,” said Fennell. He proposed engaging the rare disease community with the hospital and holding an event on Rare Disease Day. Read More
Diagnosing the condition that they suffer from is often a critical component for those living with a rare disorder
Can you imagine experiencing a wide range of physical and mental symptoms–including uncontrollable muscle spasms and cramps, seizures, fatigue, anxiety and depression–but not knowing the cause? Unfortunately, that may be the case for many people whose parathyroid glands are absent or damaged. Hypoparathyroidism (also called hypoPARA) affects many different parts of the body, which makes it complicated for a doctor to diagnose and manage it. The disorder is also rare, affecting an estimated 65,000 Americans.
Siren Interactive recently collaborated with NPS Pharmaceuticals, Inc., a specialty pharmaceutical company developing innovative therapeutics for rare gastrointestinal and endocrine disorders, on an educational website for patients and caregivers dealing with this rare and complex disorder. The website, Hypoparathyroidism.com, was created in conjunction with experts in the field as a resource to connect patients with hypoparathyroidism, their families and the healthcare professionals who treat them. The theme of the site, Hypoparathyroidism Answers, reflects this.
Siren Interactive created this video for the Manny Awards where we were thrilled to win the Heart Award. Siren was chosen by the editors of Med Ad News for our dedication and singular focus to rare disease patients, caregivers and healthcare professionals. For the past three years, Siren has served pro bono as the interactive partner for National Organization for Rare Disorders (NORD) on Rare Disease Day. The honor included $3,000, which we donated to NORD.
My favorite part of the video are the photos of the rare disease caregivers, and their families, who are part of our book, Uncommon Challenges; Shared Journeys. There is also a photo at the end of the Siren team, which makes me smile. Check it out and let us know what you think.
Why haven’t I cured anyone yet? I want to develop drugs that help patients, millions of patients
“Our darkest moments can bring our brightest dreams to light,” said Dr. Una Ryan last week at the Leadership Conference hosted by the Healthcare Businesswomen’s Association (HBA). For me, the highlight of the annual event was the personal stories shared by three women, including Dr. Ryan.
Inspired by a difficult childhood during WWII and her father’s return from a POW camp, Dr. Ryan decided she wanted to help save lives. She also shared how she was a victim of domestic violence.
“I was excelling in academic medicine when this thought hit me like a bullet: Why haven’t I cured anyone yet? I want to develop drugs that help patients, millions of patients,” noted Dr. Ryan. She is currently the CEO of Diagnostics for All, a nonprofit saving lives through the creation of low-cost, easy-to-use, point-of-care diagnostic devices designed specifically for the developing world.
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. Read More
First, it’s simple economics: fewer patients means higher drug prices.
A Forbes article came out this week about the most expensive medicines on the market, naming nine drugs that cost more than $200,000 per year. The author singled out Alexion Pharmaceutical’s Soliris, Shire Pharmaceutical’s Elaprase, and BioMarin Pharmaceutical’s Naglazyme. These are treatments for patients with rare disorders.
I have several issues with the sensational nature of this piece. First, it’s simple economics: fewer patients means higher drug prices. From the article: “In the inverted world of drug pricing, the fewer patients a drug helps, the more it costs.” How is this inverted? Isn’t that how all economics in a capitalist system works?
The bar set by the FDA is not lower, in terms of safety and efficacy, for drugs that address rare diseases. In fact, it’s much harder and sometimes impossible to field a multi-arm clinical trial because there are so few patients and virtually no natural history for many rare disorders. The Orphan Drug Act offers incentives for companies to have extended monopolies on the orphan drugs they bring to market, and since this act was put in place in 1983 more than 200 orphan drugs have been approved. Before the Orphan Drug Act there were none. With our current drug development system, the only chance a patient with a rare disorder has is if a company takes on a risky drug development process through the FDA process designed for bigger market drug trials. Read More
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. Read More
patients are becoming active participants and contributors to research
Patients, researchers, and pharmaceutical companies are natural allies. They all want the same thing – to find a cure. In the meantime, they want to reduce symptoms and challenges associated with the disease to give patients a full life.
In the past, research on these two fronts has been the province of scientists, with patients anxiously looking on, raising political and social awareness for their disorder in hopes of generating funding, or raising the funds themselves. But now, patients are becoming active participants and contributors to research - not by doing the work themselves, but by contributing collective data. Read More
Is there room for “shaping the message” to create a better brand experience
We are living in an attention economy, and even for traditional advertising there seems to be more and more talk in our community (see the last few minutes of the Ad Age interview with Jimmy Wales, the guy who started Wikipedia) about the inability of brands to shape popular opinion — especially if the product isn’t very good. The other side of this is that if you do have a good product, social media gives you an efficient way to create awareness and an opportunity to engage the community and get them to tell the world about your product.
Together, the newly diagnosed and the chronically ill account for only 40% of the health seekers but 90% of the health seeking traffic.
When you think about some of the data from the Pew Internet and American Life Project as it relates to rare disorders, there are some interesting facts that emerge. Two of the main groups that are searching online are the newly diagnosed and the chronically ill (and their caregivers).
The Newly Diagnosed patients search intensively and enlist a wide network of friends and family. They desire 24-hour access to expertise and similar patients. They make up only 5% of the health seeker population but account for 40% of the online health searches. 40% — They are searching intensively giving themselves a crash course on their disease.
Chronically Ill (and caregivers)
Chronically Ill patients search regularly for new therapies and are very active online. They chat, belong to list-serves and join online communities. They represent 35% of the health seeker population but 50% of the online traffic.