Author: livingwithnarcolepsy_1bsjc8

@trust_level_0 Dear Narcolepsy Support Member, For over 10 years, the Ben’s Friends online rare patient communities, run & moderated by rare patients themselves, have been a source of support for many of us, living with rare diseases. But it’s not enough. We would like more people to know about this wonderful service. To that effect, we are planning a social media campaign that will highlight the benefits of the Ben’s Friends online communities. We would like this to come directly from you, our members, to ensure the information is authentic and speaks directly to the reader. So…we are inviting you to share with us your feedback on the platform, what makes it special, how it’s helped you, why you use it, and why others should as well. Important note: our social media posts will be edited to avoid sharing any personal information, but will be 100% inspired by and representative of your stories. If you are interested in contributing, please send your story as an email to bf.stories@bensfriends.org. Note: by sending your story via email, you give Ben’s Friends consent to leverage some of its contents to create its social media posts, provided no patient privacy information is divulged. Thank you, Ben’s Friends Rare Disease Communities BensFriends.org 2 posts - 1 participant Read full topic

Ben’s Friends has launched a new community for moms raising children with rare diseases and chronic conditions and we are inviting you to join Warrior Moms Living with Rare Disease Warrior Moms Living with Rare Disease Warrior Moms fighting rare diseases together. Please share the community with other families who are affected. 70% of rare genetic disorders start in childhood. Similar to Ben’s Friends other support communities, membership is free. The community is a safe place to express yourself and ask for assistance. Participation can be anonymous. There is no need to wait for a weekly or monthly meeting in order to connect with other warrior moms who understand the unique challenges, time and energy it takes to raise a child with a rare condition or illness. On Rare Disease Day back in February, we heard from NORD’s state ambassadors and other participants about their daily tribulations. Mothers were discussing everything from balancing a job, battling a chronic illness themselves and traveling to patient trials on behalf of their kids. A major grievance amongst the moms was the difficulty in accessing relevant resources. Whether your child is school aged, a teen, or transitioning to adult activities, the community is for strong, passionate and caring moms who are dedicated to supporting each other. We encourage them to ask questions and share stories. Each stage of a child’s life will bring challenges to navigate but with support like Warrior Moms Living with Rare Disease. We hope to make life work a little better for child and family. If you’re a Warrior Dad or a Warrior Gran, you’re welcome, too. 1 post - 1 participant Read full topic

Sascha Gallardo – June 15, 2020 The patients who visit our sites have tons of questions on their mind related to their symptoms, which clinic to visit, the medications they are taking, and the treatment procedures they will undergo. They want a space to find answers as well as comfort from people who truly care. The Ben’s Friends team, on the other hand, interacts with the members on a daily basis. Everyone has to be equipped with certain skills to become effective at the tasks at hand. For instance, they have to be good at listening so to speak, to really understand what the patients are trying to say. They need to know how to communicate well especially since the absence of nonverbal cues in online forums can make messages prone to misinterpretation. Being part of the team certainly helps develop these and other skills over time. With this, Ben’s Friends thought of opening an internship program a few years ago for students in various fields such as medicine, social work, and communications among others. We are delighted to announce that one of our past interns has successfully finished medical school recently and is on her way to achieving her dream of helping patients. Melissa, or Meli to us at Ben’s Friends, is a recent graduate from the Cumming School of Medicine at the University of Calgary. She will be starting her residency in Vascular Surgery in Calgary this July. Like many of the diseases dealt by members of Ben’s Friends, vascular disease is often a chronic problem. Meli finds it both challenging and gratifying to help patients navigate their disease before, during, and for many years after surgery. Prior to medicine, she was a competitive distance runner and an engineer. Below is our interview with Meli. Tell us the story about how and why you became an intern at Ben’s Friends. I got involved through Seenie, who was my childhood neighbor and lifelong family friend. Seenie knew I was trying to go to medical school and saw Ben’s Friends as the perfect opportunity to “get my feet wet,” i.e. actually learn from, interact with, and support individuals with chronic diseases. The experience certainly solidified my belief that I was pursuing the right path! What stages did you have to go through as part of your training? This was a few years ago, so there wasn’t necessarily formalized training but more so graduated responsibilities. I started with greeting new members on the Living with Polyneuropathy site, and then eventually moved into a moderator support role as well as helping with the internship program. I have to give credit to Seenie, though, for developing the awesome training material for new interns! Tell us about the tasks assigned to you during your internship. As moderator support, I would go through each of the (then) 30+ Ben’s Friends communities to evaluate new member requests, greet members, and screen discussions to make sure they were safe and supportive. It shocked and saddened me when I realized how lonely and desperate many of our new members were. It also inspired me to see how supported they felt when they became part of the community, and how some of the members with the most problems were also the most positive. An interesting but unfortunate fact is that there are individuals who try to get into the communities to take advantage of vulnerable members: scammers, spammers and snake oil sellers make regular attempts at gaining membership. As a senior moderating intern, it was my job to judge the sincerity and authenticity of requests for membership, which was an excellent learning experience for an aspiring medical student. Through careful, knowledgeable screening, Ben’s Friends members are authentic but also honest and open because they can be anonymous. Tell us about the important things you learned while you were an intern. I think the most valuable thing I learned was the difference between sympathy and empathy. It is easy to sympathize with someone’s situation, but it is much harder to put yourself in their shoes. I found that the more I tried to do just that, the better I could connect with the community members in order to support them. Any experience that you want to highlight? Overall, the teamwork, dedication, and compassion on behalf of the Ben’s Friends team made the experience extremely inspiring and rewarding. The moderator support team went above and beyond to support community members from across the world while often dealing with their own chronic conditions. Talk about grit! As well, a special shout-out to Seenie and TJ for supporting me through Ben’s Friends and encouraging me to keep applying to medical school. How has becoming an intern at Ben’s Friends helped you in med school? Communications was an important class at my medical school where we learned and practiced how to have empathetic, respectful, and culturally-informed conversations with patients. My time with Ben’s Friends gave me a head start! Who are the students that you think will benefit most from an internship at Ben’s Friends? Anyone going into any area of healthcare–be it medicine, nursing, physiotherapy, respiratory therapy, you name it–would benefit from this experience. Anything you want to say to students who are looking for an internship? Pursue what you are passionate about and not just what will fill your CV. My time with Ben’s Friends showed me that the will to help others extends beyond an official title of “Doctor/Nurse/etc.” Listen to and learn from the stories of others, and recognize the privilege of sharing in their journey. 1 post - 1 participant Read full topic

Sascha Gallardo – July 1, 2020 We’re excited to announce that Ben’s Friends has partnered with ClozTalk, a social impact company that helps charities raise people’s awareness of their mission. ClozTalk now designs apparel like t-shirts, hoodies, and jackets with the logo of Ben’s Friends. As more people get to know our organization through the sale of these items, we can reach more potential members and supporters of our cause. Not only is ClozTalk doing this at no charge to Ben’s Friends, they will also donate a percentage of the profit to support our projects. The idea for ClozTalk came about after random strangers asked supporters of Imerman Angels (IA), an international cancer support organization, about the name on their t-shirts. This led to conversations about the mission of IA which eventually encouraged more advocates. The team behind ClozTalk, led by its co-founders Jonny Imerman, John May, and Jeff Imerman, thought of extending the same opportunity to other cause-oriented organizations. Ben’s Friends apparel items are now available in their online shop. ClozTalk delivers to all 50 states through United Parcel Service. More information about the shipping policy is found here. 1 post - 1 participant Read full topic

Sascha Gallardo – August 31, 2020 Delays in getting an accurate diagnosis for a rare disease is very common. Patients would visit a physician, present their symptoms, and then they would be told there is nothing wrong with them. They’d visit another one, would be referred to a specialist, and then get some tests done only to go back to square one after a few months. The same process would be repeated until eventually, years have already gone by and they still don’t know exactly what it is they are suffering from. On average, rare disease patients are in “diagnostic limbo” for seven years before getting an accurate diagnosis. Some factors contribute to the difficulty of acquiring a proper diagnosis quickly. In an interview with Technology Networks, Rare Disease UK Chair Dr. Jayne Spink explains that “[i]t is impossible for any single healthcare professional to be knowledgeable across the whole range of possible rare disease diagnoses.” Aside from this, “[r]are diseases can also look similar to more common conditions, or present in an unusual way, meaning that the underlying cause of the patient’s condition might be overlooked or mistaken.” [1] Diagnostic delays undoubtedly cause adverse impacts on patients. Many rare diseases still don’t have available treatment but even for those that have, patients would not be able to avail of them without a proper diagnosis. Worse, many individuals undergo costly unnecessary procedures because of a misdiagnosis. Rare disease patients also suffer from the social, emotional, and psychological impacts of not having an accurate diagnosis. For instance, one of our members, Michelle, experienced difficulty swallowing and saw ten different doctors who all said it was all in her mind. Her symptoms got worse and lost 20 pounds in only two months. She had to take an antidepressant and muscle relaxers so that she could continue taking care of her kids. Later on, she was diagnosed with Eagle Syndrome and the calcification on each side of her neck that was causing her the difficulty was removed. This blog discusses some efforts to speed up the process of providing a diagnosis for rare diseases. The examples presented in this blog are by no means complete and there are projects in other countries that won’t be mentioned. Efforts to speed up rare disease diagnosis The past few decades saw an increasing number of efforts aimed at speeding up the diagnosis of rare diseases. In the United States, offices under the National Institutes of Health (NIH) such as the National Human Genome Research Institute, the NIH Clinical Center, and the Office of Rare Diseases Research (ORDR) established the NIH Undiagnosed Diseases Program (UDP) “to help provide diagnosis and treatment for patients with unknown disorders” [2]. This program has since been expanded in 2012 to include seven clinical sites, core laboratories, and a coordinating center, forming the Undiagnosed Diseases Network (UDN). After another expansion in 2018, five clinical sites and new research cores were added to UDN. They have also created an online portal called UDN Gateway where Individuals who are interested in participating in the study can submit their applications. People living in Australia, on the other hand, can take advantage of the Rare and Undiagnosed Diseases Diagnostic Service. This service is provided through the Genetic Services of Western Australia which, due to its decades long experience in clinical genetic care, has already created an integrated diagnostic system in collaboration with other service providers [3]. In Japan, the Initiative on Rare and Undiagnosed Disease (IRUD) was launched in 2015 by the Japan Medical and Research Development Agency (AMED). IRUD is a clinical research program that “aims to support the diagnosis of patients with undiagnosed disease via data sharing and promote research into pathology that may lead to the development of new treatments and therapies.” [4] To achieve this goal, the program started with bringing together a research consortium with participants from across the country that would then build a nationwide integrated diagnosis system as well as create databases that are compatible with those outside Japan. As early as December 2016, the program has already accepted 2000 undiagnosed registrants. [5] Tools that can help accelerate rare disease diagnosis There are also important advancements when it comes to the tools that can be used to easily identify a rare disease. One example is FindZebra that was launched in 2013 in Copenhagen by Ole Winther, Mads Emil Matthiesen, and Dan Svenstrup. While FindZebra can be easily accessed online, the team behind it reminds users that it cannot be held liable for any repercussions associated with its use. Physicians and other professionals are the intended users of this tool where they can enter information such as symptoms and physical examination data like blood pressure. Search results include information about possible diseases as well as a list of pertinent genes. Aside from FindZebra, an algorithm was developed by a team of professors at Stanford University that could accelerate rare disease diagnosis. Dubbed as Phrank, which is short for phenotype ranking, this algorithm speeds up the matching of a patient’s list of symptoms and genetic sequence to a specific disease. [6] Based on their article published in Genetics in Medicine, “Phrank’s greatest improvement is in disease space, where across all 169 patients it ranks only 3 diseases on average ahead of the true diagnosis, whereas Phenomizer ranks 32 diseases ahead of the causal one.” [7] Conclusion Finding out the cause of symptoms an individual is experiencing as early as possible is very crucial. It helps patients to quickly avail of treatments when possible and avoid all the unnecessary burden that goes with misdiagnosis. Hopefully, more and more efforts will be done so that individuals suffering from rare diseases would no longer experience the diagnostic odyssey that rare patients usually go through. References: [1] MacDonald, A. (2019). The Challenge of Diagnosing Rare Diseases. 28 Feb 2018. Technology Networks. Accessed 18 Aug 2020. https://www.technologynetworks.com/diagnostics/articles/the-challenge-of-diagnosing-rare-diseases-298054 [2] National Human Genome Research Institute (n.d.). Undiagnosed Diseases Network. Accessed 18 Aug 2020. https://www.genome.gov/Funded-Programs-Projects/Undiagnosed-Diseases-Network [3] Baynam, G., Pachter, N., McKenzie, F. et al. (2016). The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service. Orphanet J Rare Dis 11, 77 . The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service | Orphanet Journal of Rare Diseases | Full Text [4] Japan Agency for Medical Research and Development (n.d.). Accessed 18 Aug 2020. Initiative on Rare and Undiagnosed Diseases (IRUD) | Japan Agency for Medical Research and Development [5] Adachi, T., Kawamura, K., Furusawa, Y. et al. (2017) Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey. Eur J Hum Genet 25, 1025–1028. Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey | European Journal of Human Genetics [6] Digitale, E. (17 August 2018). New algorithm could improve diagnosis of rare diseases. Medical Express. Accessed 18 Aug 2020. https://medicalxpress.com/news/2018-08-algorithm-diagnosis-rare-diseases.html [7] Jagadeesh, K.A., Birgmeier, J., Guturu, H. et al. (2019) Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization. Genet Med 21, 464–470. —– Ben’s Friends is a network of safe and supportive online communities for individuals affected by a rare disease. You may check our list of communities here. If you think you would benefit from any of our communities, we invite you to sign up as a member. 1 post - 1 participant Read full topic