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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

Sascha Gallardo – September 29, 2020 Ben’s Friends co-founder and chairman, Ben Munoz, was interviewed recently for the Rare Leader, a regular feature of the Global Genes’ Rare Daily website. In the Q&A piece, Ben shares how the organization started, its mandate and strategy, new projects and management philosophy. Ben underscores how important focus is in keeping the organization relevant. “The best way to keep the organization relevant is focus. Ignore the non-essentials. Don’t focus so much on what others are doing because that’s sometimes a distraction. Focus on what our patients need and what’s going to improve their lives. If you know that, then everything else will take care of itself” Ben explains. When asked what inspires him on his job as a chairman of the organization, Ben gladly shared, “whenever I hear from patients about what a difference our patient communities have made in their lives. That makes it all worth it.” Read the Q&A piece here and learn more about Ben himself and Ben’s Friends. 1 post - 1 participant Read full topic

Sascha Gallardo – October 26, 2020 Ben’s Friends has been successfully running online patient communities for thirteen years and it just continues to grow. We are home to the most active communities of AVM survivors, people living with psoriatic arthritis, fibromyalgia, and eagle syndrome, to name a few. Thanks to our moderators who dedicate their time and effort to ensure that our communities remain safe and supportive. And of course, thanks to our members who carefully follow the community guidelines which the Ben’s Friends family has developed over the years. Here are some of the good practices that are observed in our communities. Guidelines followed by our members 1. Discovering existing conversations, before making a new post There are already thousands of posts on a community site. Oftentimes, somebody has already posted what one would like to seek clarification of. In this case, some important information has been posted on the thread which has already generated followers specifically, those members who participated in the discussion. Instead of posting right away, members are encouraged to first browse the site and find a topic related to their concern. This way, they would already be able to find some of the answers they’re looking for so they would only have to ask a few related questions. Aside from that, they could also meet other members who are interested in the same topic who would very much be willing to share more helpful information. 2. Avoiding rude posts Naturally, our members avoid posting anything that would offend other members such as name-calling, abusive posts, and hate speech. Spamming and posting of obscene or sexually explicit content are also avoided. 3. Disagreeing respectfully We don’t always have to agree with everyone’s post, especially if we’re certain that we know something that could provide a better option or improve somebody else’s situation. Members may disagree with what a fellow member said, but they do so in a respectful way. And of course, if needed, it is the ideas that they criticize and not their fellow members themselves. 4. Choosing conversations There may be times when members will chance upon posts that were better not posted. Members are encouraged to ignore these conversations and only participate in healthy discussions. By doing so, they help keep the community safe for everyone. 5. Flagging posts It’s possible that members will be tempted to reply to negative posts and comment on unacceptable language out of their concern for the group. They are, however, advised not to do so because it will only prolong the conversation and cause them unnecessary stress. Members are instead advised to just flag such posts so that the moderators can take appropriate action. 6. Posting only lawful content And of course, members of Ben’s Friends communities only post pictures and other content that belongs to them. Whenever they post articles that might be helpful for other members, they always cite their sources. Usually, scientific research findings are shared by posting the link to the original article on the community site. Making the communities even better for everyone The guidelines that our members follow undoubtedly keep our communities healthy. Beyond these, however, are two rules that our Co-EDs Tom and Clasina apply to our communities which definitely make our communities even better. They are as follows: 1. To get support, give support Support is a two-way street. The people that reach out and offer social and emotional support benefit from that in two ways. First of all, they get a positive feeling from performing an act of altruism. But as they support someone else, their own thoughts and emotions undergo a subtle change. You can’t encourage someone else to think more positively or consider a different way of viewing their situation without assuming some of that positive attitude yourself. 2. Describe, don’t prescribe Nobody likes to be told that they are wrong. When you prescribe to someone else, the covert message is that the other person is somehow lacking because they needed your advice. When you’re feeling down, being told how to solve your problem just gives you one more thing to feel down about. On the other hand, when you describe your own experiences, it gives the other person the space they need to consider alternatives, to choose freely, and to feel some degree of satisfaction when they make progress. From the very start, the mission of Ben’s Friends is to provide a safe and supportive community where people affected by a rare disease or chronic illnesses can connect with others like them. Keeping our communities healthy is key to continuously work in line with this mission. Ben’s Friends is very fortunate to have responsible and caring volunteer moderators and members who make sure that the guidelines are strictly followed. With this, everyone benefits from all the support that our patient communities offer. 1 post - 1 participant Read full topic

Sascha Gallardo – November 5, 2020 Ben’s Friends co-founder and board member Scott Orn was featured recently in John Garrett’s podcast. Titled What’s Your And?, the podcast focuses on the guests’ interests or what they love to do outside of their job and how these interests affect their work. In the episode, Scott talked about his volunteer work at Ben’s Friends, which is what he enjoys when he’s not doing work at Kruze Consulting, the accounting firm he and his wife has founded. Scott shared how Ben Munoz suffered from an arteriovenous malformation stroke, looked for other people who have also had AVM, and when he was not able to find them, set up the AVM Survivors community which eventually led to their founding of Ben’s Friends. Scott recalled how in the early days of the organization, at the time when people were still scared of the internet and of influencing medical decisions, the members would be empowered to talk about their symptoms to their doctors and eventually get proper diagnosis and treatment. For Scott, there’s nothing better than being able to change people’s lives. “If you think about all those people who are just benefiting from the social connections and sharing, it’s really powerful,” Scott said. Scott also explained that what they have learned in Ben’s Friends, particularly how the internet works, was very instrumental in their business.To listen to the podcast interview with Scott, click here. 1 post - 1 participant Read full topic