Tackling the Challenges of Rare Diseases: Introducing RareXcel
Neurofibromatosis is a rare, genetic condition causing tumors to form on nerve tissue all over the body. The masses can grow both internally and externally, often appearing as lumps under the skin surface. People can experience deformities of skeletal structures as well, making this a visible disease. As a member of Inspire’s Neurofibromatosis Network support community relates, living with this condition can test self-esteem:
“I’m disappointed. Life had been going pretty smoothly for me these past couple weeks….Then today happened…the depression and darkness comes out of nowhere stealing my joy, like a thief in the night. Normally, I would never let the negative thoughts consume me. On a bad day, I tend to obsess about these things. I’ll never be good looking….I’ll never have a “normal” (tumor free) body….When the sun hits my arm just right…I see all these tumors under my skin….I felt maybe some of you could relate.”
This member received 17 replies in support, like this one:
“We all go through these “dark” moments :) I’m just happy we all have each other to lean on to get through them!! I get that way sometimes too….Most of the time I do not fear being alone but it creeps in every once in awhile….But I have to keep believing. And remember that my happiness and determination and beauty depends on me….I totally get the feeling… Keep your chin up…. :)”
“I think it’s safe to say we all have those days. Just don’t stay there.
We’ve got to cho[o]se to be positive and to fight. There’s a battle to win!!!”
People with rare conditions who belong to a support community through Inspire find help and encouragement through hard times.
And life with rare disease is hard. For the 1 in 10 Americans living with a rare disease, the word challenge is an understatement. Before diagnosis, people with rare and invisible diseases face disbelief and shaming from family, friends and medical experts.1 It takes on average eight physicians (four primary care doctors and four specialists) and two to three misdiagnoses to get a diagnosis.2 And an average of 7.6 years to be diagnosed (and many people never get a diagnosis).2
Moreover, there is seldom another soul around them living with the condition3 because being rare means being uncommon. Unfortunately, it also may mean inadequate treatment options as researchers deal with the daunting task of recruitment. Developing treatments for rare disease patients – a process that can cost more than $1 billion over 10-15 years – seems an impossible as well as financially unattractive task.4
Finding other people going through similar experiences, sharing information, and just spending time with people who really understand, helps many people affected by rare diseases. The Internet–social media, and online support communities–is making this possible. It is also bringing together potential research participants who are eager for treatments and cures.
Together with nonprofit partners, Inspire has created 40 rare disease communities with over 250,000 patients and caregiver members. A few are listed below.
These active and engaged communities of rare disease patients and caregivers are helping and learning from one another, providing much needed emotional support, and receiving important resources and information from our nonprofit partners. Yet, we know that there are Inspire members living with approximately 2,600 other rare diseases. These members would benefit from communities specific to their conditions.
RareXcel is a new Inspire initiative led by Judy Chandler, MPH, Partnerships Director, focused on developing connections among individuals affected by rare diseases. One of the goals of the RareXcel program is to help create more rare disease communities to benefit members who do not have one specific to their condition. By partnering with nonprofit rare disease advocacy organizations for rare cancers, genetic disorders, neurological disorders, autoimmune conditions, and many other disease categories, we hope to improve our support for all rare disease members.
Our mission is to enhance quality of life for patients and caregivers facing rare conditions, by giving them a community where they can share much needed support, information, and resources, as well as by making their voices heard to improve diagnosis and treatment options. Nonprofit rare disease advocacy organizations can play a key role by serving as content experts and helping to connect the dots between rare disease patients, advocates, researchers, and the medical community.
Inspire offers a trusted community to patients and caregivers. Our goal with this blog, this website and our content is to provide the life science industry access to the true, authentic patient voice. In so doing, we support faithful operationalization of patient-centricity. Take a look at our case studies, eBooks and news outlet coverage.
1 Nellor, D., (2014). Experts by Experience 2014: A compilation of patient stories. https://newsletter1.wpengine.com/resource/experts-experience-2014/