Rare Disease Day: Support and Hope for Patients
As a mom of three sons who each have a rare disease, Jenn McNary knows how important community support is for a family facing uncertainty.
“I think COVID has taught us that anyone can experience a fatal health condition at any time,” she says. “I hope that on this Rare Disease Day, the public will remember the feelings of isolation, fear of lack of treatment, and sense of urgency, and use that to motivate them to support those living with rare disease.”
Jenn’s story is one that Spencer Health Solutions is highlighting for 2021 Rare Disease Day, both globally and in the United States. The day is an opportunity to call attention to patients, families and caregivers impacted by one or more of the 7,000 diseases or conditions deemed as rare. (The National Institutes of Health is observing the day on Monday, March 1.)
Rare diseases are defined as those that affect fewer than 200,000 people in the U.S. The National Organization for Rare Disorders – sponsor of the U.S. Rare Disease Day – estimates that 25 million to 30 million Americans are living with a rare disease. More than half of them are children.
While researchers attempt to make progress on treatments for rare diseases, patients often struggle with fear, loneliness and uncertainty. Patient advocacy organizations like NORD and Inspire help patients and families understand that they’re not alone. They also provide resources on promising treatments and clinical trials.
Here are three stories of rare disease patient advocates making a difference:
Jenn knows how important patient resources are to families like hers. That’s why she started a nonprofit called One Rare. The organization provides social and support opportunities to those caught in the gap between teenage years and young adulthood.
Jenn, whose two young-adult sons have Duchenne Muscular Dystrophy, is a strong voice for families unable to find support after their children age out of other programs.
“I’m hopeful that the same sense of emergency and urgency we see with COVID will be applied to the future of drug development for rare diseases. Now, with the development of the COVID vaccine, we know it’s possible, so there are no excuses.”
Mimi had never heard of spinal muscular atrophy until her son was diagnosed with it. “So many people, myself included, never think a rare disease will affect them or a loved one, until it actually happens.”
Following her son’s diagnosis, she started an online fashion retailer called Style Suite as a way to transition from the corporate world to a more flexible lifestyle running her own business. Her business of selling size-inclusive apparel to career women and moms caught on – so she left her corporate job to focus full-time on both the business and her family. It’s an example she hopes others can follow as they advocate for others facing similar health and lifestyle challenges.
“The things that benefit those living with a rare disease – access to treatment, care, insurance coverage – benefit everyone. It’s a simple thing to support and isn’t partisan. When rare diseases affect approximately 10 percent of the population, it’s really not so rare at all.”
Christine Von Raesfeld
Christine, who was already living with lupus and other autoimmune conditions, was recently diagnosed with two new rare conditions – AAG (Autoimmune Autonomic Ganglionopathy) and LVNC (Left Ventricular Non-compaction). She says it was an uphill battle to get the new diagnoses since she was already dealing with lupus. But that only strengthened her resolve.
“Dealing with all of this has taught me quite a few lessons, with the most important piece of advice being to advocate for yourself. Often, we settle for treatments in exchange for a diagnosis, even though it may not be correct.”
Christine advocates for others through the nonprofit she founded, People with Empathy, where she serves as CEO. She maintains a busy schedule of public speaking and working with patient advocacy organizations, pharmaceutical and life sciences companies, and individual patients and their families.
Her advice to patients: “Keep in mind that even though this is health care, you are still the consumer, and if you are not happy with the services you receive, you are free to walk away. If someone doesn’t listen, move on. I promise there is someone out there who will hear you and who wants to help.”
In our next post we take a deeper dive into an organization deeply ingrained in the rare disease community. Inspire is the leading social network for health that connects patients and caregivers in a safe permission-based manner. Catch our conversation with founder and CEO Brian Loew here.
Janet M. Kennedy is a healthcare marketing and social media professional. Janet is the Senior Digital Brand Manager for Spencer Health Solutions and hosts multiple podcasts including Get Social Health and People Always, Patients Sometimes. She is a member of the External Advisory Board of the Mayo Clinic Social Media Network.