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In this special episode of the #BeyondHAE podcast, we hear from three passionate young advocates, Zach, Angel, and Arabel who took their voices to Capitol Hill during the EveryLife Foundation's Rare Disease Week events. Representing the HAEA community, they met with legislators to push for policies that improve the lives of people with rare diseases and their families.Tune in as they share their experiences from the event, discuss the importance of Rare Disease Day, and break down the key issues they advocated for. They'll also explore ways that you, no matter where you are, can get involved in rare disease advocacy from home.Join us for an inspiring conversation about the power of young advocates, the policies that matter, and the impact they hope to make for the HAE and rare disease community!This youth produced podcast is brought to you thanks to the support of the Hereditary Angioedema Association, a patient advocacy organization serving the needs of the HAE patient and caregiver community. To learn more about the HAEA and access our incredible support network, visit, www.haea.org.Thank you to our sponsors, KalVista and Pharvaris.
The latest episode of [ The Roar ] is here!This episode, we're diving into:
There are over 7000 rare diseases identified in the U.S. alone. Many of these diseases affect children, leaving families desperate for answers. In this episode, we talk with one of those families and the biotech company offering them new hope. We also talk with an expert on policy that has jump-started R&D for rare diseases.Follow us on LinkedIn, X, Facebook and Instagram. Visit us at https://www.bio.org/
This Day in Legal History: James McCord ArrestedOn June 17, 1972, James McCord, security director for President Richard Nixon's re-election committee, and four Cuban-Americans were arrested for breaking into the Democratic National Committee Headquarters at the Watergate complex in Washington, D.C. This event marked the beginning of the Watergate scandal, a major political scandal in the United States that ultimately led to President Nixon's resignation. The burglars were caught wiretapping phones and stealing documents, intending to gather information to sabotage Nixon's political opponents. As investigations unfolded, it was revealed that the break-in was part of a broader campaign of political espionage and sabotage conducted by the Nixon administration. The scandal exposed widespread abuse of power, including illegal wiretapping, break-ins, and attempts to cover up these activities. Journalists Bob Woodward and Carl Bernstein of The Washington Post played a crucial role in uncovering the details of the scandal, leading to increased public scrutiny and pressure on the administration.The investigation led to the indictment of several Nixon administration officials and the creation of the Senate Watergate Committee. The most significant outcome was the discovery of the existence of secret tapes of conversations in the Oval Office, which revealed President Nixon's involvement in the cover-up. Faced with the likelihood of impeachment, Nixon became the first U.S. president to resign from office on August 8, 1974. The Watergate scandal had a lasting impact on American politics, leading to increased transparency and reforms aimed at preventing such abuses of power in the future.The rare disease community is advocating for changes to the Inflation Reduction Act's drug price-setting scheme, which is causing drugmakers and investors to reconsider developing drugs for small patient populations. Companies like Pfizer, Alnylam Pharmaceuticals, Eli Lilly, and Protagonist Therapeutics are altering their research strategies due to concerns over recouping costs under the Medicare Drug Price Negotiation Program. This program exempts orphan drugs with a single FDA-approved indication from price negotiations, but those with multiple indications might not qualify for the exclusion, even if they are not yet approved for additional conditions.Opponents are seeking legislative and judicial changes to amend the Inflation Reduction Act, as companies and investors shift their focus away from rare disease and small-molecule drugs. Jamie Sullivan of the EveryLife Foundation for Rare Diseases emphasized the importance of achieving technical fixes to support innovation. Recent legislative efforts aim to protect the development of these drugs, and companies like AstraZeneca are challenging the provisions in court. The Inflation Reduction Act has made the capital environment more challenging for rare disease drugs, according to John Stanford of the Incubate Coalition.Patient groups and some manufacturers argue that the exemption reduces incentives provided by the Orphan Drug Act, which has historically promoted the research and development of rare disease medicines. These drugs often launch with a single indication but can later be approved for additional uses. Concerns are rising that the current policies may hinder further research into rare diseases. Despite industry concerns, some groups argue that drug companies still have substantial resources for robust R&D and can profit from expanding indications for orphan drugs. A CMS spokesperson stated that the negotiation program aligns with the law and won't harm long-term innovation.US Drug Negotiations Plan Shifts Focus for Rare Disease ProgramsAlex Jones' personal bankruptcy has been converted to a Chapter 7 liquidation, meaning a trustee will now manage how he pays the $1.5 billion in defamation judgments against him. Jones was unable to reach an agreement with the families of the Sandy Hook Elementary School shooting victims, whom he defamed by claiming the 2012 massacre was a hoax. US Bankruptcy Judge Christopher Lopez ruled that Jones' case does not qualify for exceptions to prevent its conversion to Chapter 7, despite Jones' objections.During the same hearing, Judge Lopez dismissed the bankruptcy case of Infowars' parent company, Free Speech Systems LLC, allowing the Sandy Hook families to pursue their claims in state court. The judge clarified that there was never a request to shut down Infowars itself. Lopez expressed the difficulty of the case, acknowledging its connection to the tragic 2012 shooting.Jones' defamation debts were deemed non-dischargeable in bankruptcy due to the intentional and malicious nature of his actions. Following state court verdicts, Free Speech Systems filed for Chapter 11 bankruptcy in July 2022, and Jones filed for personal bankruptcy in December 2022. Efforts to reach a consensual bankruptcy plan failed, prompting the recent conversion to Chapter 7.Jones and the Sandy Hook families had recently agreed on the need to convert his case to Chapter 7, but the Free Speech Systems case remained contentious. Ultimately, the court decided that dismissing the Free Speech case was in the best interest of creditors. Despite potential liquidation, Jones may start a new broadcast, according to attorneys for the Sandy Hook families. This case is being managed under Alexander E. Jones, Bankr. S.D. Tex., No. 22-33553, as of June 14, 2024.Alex Jones Loses Financial Control as Trustee Takes Over (4)Alex Jones' assets to be liquidated as his company exits bankruptcy | ReutersAt a star-studded fundraiser in Los Angeles on June 15, President Joe Biden criticized the U.S. Supreme Court as being "out of kilter," emphasizing that it has never been as out of step as it is today. The event, which featured former President Barack Obama and Hollywood celebrities like George Clooney and Julia Roberts, raised over $30 million for Biden's campaign. Biden highlighted the court's conservative leanings, particularly criticizing Justice Clarence Thomas's remarks on reconsidering issues like in vitro fertilization and contraception. He also warned that if Donald Trump wins the 2024 election, he could appoint two more justices, which Biden described as alarming.The fundraiser was framed by a video montage contrasting Biden's record with that of Trump, drawing cheers from the audience. Biden noted that the Supreme Court, now dominated by conservatives appointed by Trump, has made decisions restricting affirmative action, gay rights, gun control, and environmental regulations. Obama reiterated the importance of elections in determining the court's power, linking the current situation to Trump's 2016 victory.The event marked the largest Democratic fundraiser in history, surpassing a previous record set in New York City. Other celebrities present included Jack Black, Jason Bateman, and Kathryn Hahn. Despite Biden's low approval ratings and concerns about his age, the fundraiser aimed to showcase the campaign's strength and momentum. Biden and Trump are currently tied in national polls, with Trump leading in battleground states. Both candidates have raised significant funds in California, demonstrating the state's financial influence on their campaigns.Biden slams Supreme Court at $30 million fundraiser with Obama, Clooney, Julia Roberts | Reuters This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.minimumcomp.com/subscribe
In this episode of the Being Rare Podcast, Sarita kicks off the conversation celebrating the E.WE Foundation's 5th year anniversary and why she and her husband Kareem decided to establish the foundation, which leads into the challenges of micro-small nonprofit funding. Sarita shares the Trisomy 18 Newborn Screening Participation Research Survey hosted by the E.WE Foundation and led by student interns Harlie Williams and Michael Yun. The survey is for families with living or unalive children who have been diagnosed with Trisomy 18. The goal of the survey is to capture how families understand newborn screening and assess their personal experiences with newborn screening processes. Complete the survey by visiting the E.WE Foundation website at theewefoundation.org/newbornscreening or by accessing the following link: https://docs.google.com/forms/d/e/1FAIpQLSfZYlbRcsnOXA6sMFwF8M3OlDSEPWE2RyvnS4_EY0Uh_eqC9w/viewform RAREis_ Scholarship powered by our friends at the EveryLife Foundation for Rare Diseases and Rareis_. The scholarship is for adults 17+ years living with a rare disease. Applications are open until April 22, 2024. Learn more and apply at rarescholarship.org. 2024 MC Friend Bowl is an opportunity for exceptional students like Elijah to enjoy inclusive-styled games like football, baseball, basketball, and more! Students with disabilities are paired with students without disabilities to maneuver through sport stations and games. Elijah was paired with a high schooler who made sure he enjoyed the activities. Make sure to follow us on social media @beingrarepodcast. Find Sarita, Being Rare Podcast host on all social media platforms! Find our live recordings on YouTube, make sure to subscribe and turn on your notifications so you'll know we upload new episodes. Find Being Rare Podcast wherever you stream and listen to your podcasts. Until the next episode, Be Rare! --- Support this podcast: https://podcasters.spotify.com/pod/show/beingrare/support
The small patient populations of rare diseases, the limited natural history of these conditions, and the lack of long-term experience with new treatments all contribute to the difficulty in determining the value of rare disease therapies. The issue can be further complicated by whether value is calculated in a single payer system, or a multi-payer system. Recently the Innovation and Value Initiative issued a report with the Everylife Foundation for Rare Diseases from a long-term project to bring together stakeholders to explore patient-centered outcomes across rare diseases to inform those discussions. We spoke to Rick Chapman, chief scientific officer of the Innovation and Value Initiative, about the challenges of assessing the value of rare disease therapies, the role qualitative data should play in value assessments, and the recommendations from the report.
You're not alone! When you're here, you're part of a globally connected community committed to eliminating the challenges of rare diseases. Global Genes is committed to providing information, resources, and connections to all communities affected by rare diseases. Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. The RARE Drug Development Symposium, hosted by Global Genes and the Orphan Disease Center of the University of Pennsylvania, equips advocates with the knowledge, skills, and connections they need to advance therapy development for their communities. This year's theme is Innovative Ideas from Next Generation Change-Makers. Rare Drug Development Symposium (4/29/2024 - 5/1/2024) - https://globalgenes.org/event/rare-disease-drug-development/ Rarely Told Stories - https://globalgenes.org/resources/#/types/story Rarecast (Podcast) - https://www.levinemediagroup.com/rarecast/ Disorder: Rare Disease Film Festival - https://www.rarediseasefilmfestival.com/ EveryLife Foundation for Rare Diseases - https://everylifefoundation.org/ "The Mighty" (movie) - https://www.imdb.com/title/tt0119670/ Connect to learn more: Web: https://globalgenes.org/ Phone: (+1) 949-248-RARE (7273) FB: @GlobalGenes X: @GlobalGenes IG: @globalgenes Episode Transcript: https://docs.google.com/document/d/1tsUg4k-B1GpEfFfk9JCdQtTE9MKTkYCD/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true As an Amazon Associate, I earn commissions from qualifying purchases. For more information about True North Disability Planning you can find us here: Web: https://truenorthdisabilityplanning.com/ Waypoints - https://waypoints.substack.com/ Facebook: @TrueNorthDisabilityPlanning X (Twitter): @NeedsNavigator --- Send in a voice message: https://podcasters.spotify.com/pod/show/abcs-disability-planning/message Support this podcast: https://podcasters.spotify.com/pod/show/abcs-disability-planning/support
In this episode, we speak with Dr. Emil Kakkis, a physician and scientist who has spent more than 30 years helping to advance research, treatment and policy for rare disease patients. He is also the founder of both the EveryLife Foundation for Rare Diseases and Ultragenyx, a life sciences company dedicated to developing innovative treatments for rare and ultra-rare diseases. Topics discussed: advanced tech and the promise it holds, the key factors in advancing rare therapies, issues standing in the way of treatment access and more. If you'd like to pick up a copy of Dr. Kakkis' book, you can find it at Impositivity Media or at Amazon. You can learn more about Rare Disease Week here. Editor's Note: Chronic conditions and rare diseases don't discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have an aHUS journey to share or want to connect with others about chronic illness, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.
The economic impact of a delayed diagnosis of a rare disease can result in up to $517,000 in avoidable costs per patient, according to a recent analysis from the Everylife Foundation for Rare Diseases and the Lewin Group. On average, the report found, it takes more than six years and nearly 17 doctor visits, hospitalizations, and other health-related trips, to receive a rare disease diagnosis after symptoms begin. Shortening the diagnostic odyssey saves money for individuals, caregivers, and the healthcare system, while improving health outcomes. We spoke to Annie Kennedy, chief of policy, advocacy, and patient engagement for the Everylife Foundation, about the diagnostic odyssey, the economic toll it takes, and what can be done to shorten the time to a diagnosis.
Recently, the Phelan-McDermid Syndrome Foundation was successful in applying for and receiving a specific ICD code (International Classification of Diseases code) for Phelan-McDermid syndrome from the Centers for Disease Control (CDC). Kate sits down with Annie Kennedy of the EveryLife Foundation, who has longstanding expertise in what a specific code can mean for progress for rare diseases. Kate asks - what exactly is an ICD code? What does this mean for progress in Phelan-McDermid syndrome research? Why didn't we have one already? Can it be used internationally? What was the process in getting one? What are some examples of progress after getting a code? What is the code not helpful for? Annie Kennedy is the Chief of Policy, Advocacy, and Patient Engagement at the EveryLife Foundation. She also previously served within the Parent Project Muscular Dystrophy and the Muscular Dystrophy Association. Her work includes building strong partnerships with policy makers, federal agencies, industry partners, and alliances to advance research and access in rare disease. She has developed an ICD code roadmap with the EveryLife Foundation, has conducted economic burden studies in rare disease, led efforts for newborn screening, led access efforts after the first therapies were approved by the FDA for Duchenne muscular dystrophy, and much more.
Join A Cure in Sight and Dr. Dalvin and Dr. Moser for this special Rare Disease Day Webinar, recorded live on Feb 28, 2023. Are you RARE²? Ocular Melanoma affects 6 per million people each year. Of those diagnosed, children and minority communities (people of color, indigenous peoples, etc.) make up an even smaller percentage of the patient population. Dr. Lauren Dalvin and Dr. Justin Moser, who attended medical school together, were part of a discussion on the importance of awareness for rare diseases, and how they got involved in the work of ocular melanoma specifically. Dr. Lauren A. Dalvin is a full-time Ocular Oncologist and Associate Professor of Ophthalmology with a joint appointment in Medical Oncology at Mayo Clinic, Rochester, MN. Dr. Justin Moser is a medical oncologist and hematologist and associate clinical investigator at HonorHealth Research Institute. He treats patients in the area with uveal melanoma and other rare diseases. They discuss questions such as: What is it like being a physician of those with rare diseases? Why is a day like rare disease day an important day to spread awareness? Why did you get into ocular melanoma? What drew you as a physician to rare disease? How do you see the rare disease landscape changing in the future? What are registries and biobanks? Why are they important for rare diseases? PLUG FOR INSIGHT REGISTRY , living library, what is a bio bank? How often do you treat someone in a minatory group (like children, people of color, potential obstacles they face)? How do you reassure a patient with rare diseases that they will receive good care in your practice? This webinar is made possible by contributions from the EveryLife Foundation for Rare Diseases. The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.
RD Advocacy with Everylife Foundation was Epic. - https://everylifefoundation.org/rare-advocates/rare-disease-week/ - Join us next year! Be in cool pictures like this - https://twitter.com/rareadvocates/status/1631421473842667520 - https://twitter.com/RareAdvocates/status/1631038634936741890 - Here were our asks: - https://everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf - https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Listen to #S10e95 There is so much work to do, volunteer Info@SyngapResearchFund.org This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 96 of #Syngap10 - March 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
RD Advocacy with Everylife Foundation was Epic. - https://everylifefoundation.org/rare-advocates/rare-disease-week/ - Join us next year! Be in cool pictures like this - https://twitter.com/rareadvocates/status/1631421473842667520 - https://twitter.com/RareAdvocates/status/1631038634936741890 - Here were our asks: - https://everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf - https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Listen to #S10e95 There is so much work to do, volunteer Info@SyngapResearchFund.org [ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 96 of #Syngap10 - March 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
It's RARE DISEASE DAY! Hattie has a new video! https://www.syngapresearchfund.org/families/movies I'm off to DC for NIH Day and RD Advocacy with Everylife Foundation - https://ncats.nih.gov/news/events/rdd - https://everylifefoundation.org/rare-advocates/rare-disease-week/ We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 Deadline for Grants is 3/1 - https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ iPSCs & Missense Mutations/Variants - https://syngap.fund/ipsc - https://www.syngapresearchfund.org/ips-cell-models - 30 lines, 3 missense on the list, 1 more in Europe I know about - I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line. There is so much work to do, volunteer - Info@SyngapResearchFund.org This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 95 of #Syngap10 - February 28, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95 It's RARE DISEASE DAY! Hattie has a new video! https://www.syngapresearchfund.org/families/movies I'm off to DC for NIH Day and RD Advocacy with Everylife Foundation - https://ncats.nih.gov/news/events/rdd - https://everylifefoundation.org/rare-advocates/rare-disease-week/ We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 Deadline for Grants is 3/1 - https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ iPSCs & Missense Mutations/Variants - https://syngap.fund/ipsc - https://www.syngapresearchfund.org/ips-cell-models - 30 lines, 3 missense on the list, 1 more in Europe I know about - I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line. There is so much work to do, volunteer - Info@SyngapResearchFund.org This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 95 of #Syngap10 - February 28, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
For the rare disease community, there is a common motto “alone we are rare, together we are strong”. Advocacy organizations play this important role in connecting families of rare disease , amplifying their voices and helping to improve health outcomes for people living with rare diseases. Today's podcast guest is Annie Kennedy who has over three decades of experience in advocacy work. A veteran leader in the rare disease patient advocacy movement, Annie joined the EveryLife Foundation in 2018, where she led the National Economic Burden of Rare Disease study, the development of the ICD Code Roadmap, and the community-driven Guide to Patient Involvement in Rare Disease Therapy Development. Annie previously held leadership roles at Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). She is a sought-after advisor to patient-centered organizations and initiatives across the nonprofit and government sectors. If you are new to advocacy work or a seasoned advocate, become inspired by Annie's story to carry forward despite the road to advocacy work is non-stop, exhausting and at times, bumpy with many ups and down. Join this collective energy to advocate for rare diseases research. Podcast Interview Questions: 1. For over three decades your advocacy work has been critical to amplifying the voices and you are currently the Director of Chief of Policy, Advocacy, & Patient Engagement for the EveryLife Foundation for Rare Diseases. Can you share with our listeners the mission of the EveryLife Foundation? What were major accomplishment made? And how can they get involved? 2. EveryLife Foundation for Rare Diseases also plays important roles in advancing newborn screening advocacy in the United States. What is your vision for how stakeholders across newborn screening and the rare disease community can work together? 3. EveryLife Foundation led a study to assess the total economic burden of 379 rare diseases in 15.5 million individuals in the United States in 2019. The total economic burden was $997 billion. What were your key takeaways from this important study and how can the results inform researchers, clinicians, policy makers, and other key stakeholders? 4. Prior to the EveryLife Foundation, you were involved in the Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). In that time, you helped lead the legislative efforts around passage and implementation of the MD-CARE Act (2001, 2008, 2014), the Patient Focused Impact Assessment Act (PFIA) which became the Patient Experience Data provision within the 21st Century Cures Act (sec 3001). Congratulations, these are incredibly impactful efforts. Can you tell our listeners about the ‘behind the scenes' activities that were undertaken to lead these efforts and the implementation strategy. 5. February is a special month. Every year, last day of February is a day to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. What are some rare disease day activities taking place? 6. Are you involved in training the next generation of advocates, and what do you tell them about newborn screening research? 7. How did you know leading advocacy work was your calling? Can you share your career journey? 8. The road to advocacy work is non-stop, and at times, bumpy, do you have any stories of inspiration that keep you going? 9. How can NBSTRN assist in you advocacy work? 10. What does NBS research mean to you?
“Our rare disease community is looking to solve for many different types of policy barriers because we have a very diverse patient community,” says Annie Kennedy, who was drawn to the rare disease issue due to some personal experience early in her life. After spending many years as a patient advocate -- including being with patients during provider visits -- she has developed a keen understanding of where the healthcare system can be improved to do justice to rare disease patients and families. That insight informs her work as chief of Policy, Advocacy and Patient Engagement at the EveryLife Foundation where she helps provide patient communities with tools and resources they can use to make their voice heard in the policy arena. In fact, next week, EveryLife is holding its annual Rare Disease Week on Capitol Hill during which members of the rare disease community will meet with lawmakers in Washington to provide meaningful perspectives and encourage their support. “There are more than thirty million Americans living with rare diseases, so this is a real public health priority,” she tells Raise the Line host Michael Carrese. One resource EveryLife has brought to the table is a study on the total cost of living with a rare disease, not just the costs of medical care, which is helping to inform policy discussions. You'll also learn about some key steps pharma companies, insurers and providers can take to support the rare disease community and where the field is heading in the next few years. Mentioned in this episode: https://everylifefoundation.org/
#raredisease #millennial #FDA #orphandrug #advocate #EveryLifeFoundation #rarediseaseweek CONVERSATIONS WITH CALVIN; WE THE SPECIES DANIEL PEZZETTA: “A special introspective, riveting, interview with his living with a rare disease (as a millennial, college student, national advocate) 30 MILLION Americans live with RARE diseases (93-95% of the 7000 rare diseases have NO FDA approved therapy)” 193 Interviews. GLOBAL Reach. Earth Life. Amazing People. PLEASE SUBSCRIBE (You can almost find any subject you want) https://www.youtube.com/c/ConversationswithCalvinWetheSpecIEs ** DANIEL PEZZETTA; Rare Diseases Legislative Advocate; EveryLife Foundation for Rare Diseases Intern; Millennial; Author; George Washington Univ YouTube: CONTACT: LinkedIn: https://www.linkedin.com/in/dan-pezzetta-591707216/ EveryLife Foundation: https://everylifefoundation.org/about-us/ Book Baby Purchase Book: ‘Disposed: A Story of Chronic Illness During the COVID-19 Pandemic': https://store.bookbaby.com/book/disposed-a-story-of-chronic-illness-during-the-covid-19-pandemic BIO: “Legislative advocate for those with Rare Diseases who is currently attending George Washington for Legislative Affairs. I've spoken at M.I.T, Harvard Medical School, and Rare Disease Week on Capitol Hill about policy” EVERYLIFE FOUNDATION FOR RARE DISEASES The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures. We do not speak for patients. We provide the training, education, resources and opportunities to make their voices heard. By activating the patient advocate, we can change public policy and save lives. ** ALSO ON AUDIO: SPOTIFY http://spoti.fi/3bMYVYW GOOGLE PODCASTS http://bit.ly/38yH3yP edits by Claudine Smith- Email: casproductions01@gmail.com ** PLEASE SUBSCRIBE (You can almost get any subject you want ) #animalrescue #climatechange #womenshealth #ONEHEALTH #water #singersongwriter #branding #mindfullness #comedy #sport #infertility #racialequity #stuntwomen #comedy #environment #NASA
This episode is sponsored by our partner, Ultragenyx! Ultragenyx has been a loyal and proud supporter of n-Lorem and our patients. Stan talks with a rare disease treatment advocate and the CEO, President and Founder of Ultragenyx, Emil Kakkis, MD, PhD, about why he has dedicated his career to supporting the rare disease community, what led him to establish the EveryLife Foundation, and the origins of Ultragenyx. Because of the debilitating and often quick progression of rare disease patients, Emil believes that regulatory agencies should modify the way they approach clinical trials for these individuals. Far too often, policies leave patients stuck waiting and hoping for treatment while their symptoms worsen, causing permanent damage. Do you have a question that you'd like to ask Stan Crooke? Stan will be taking questions directly from you and other podcast listeners and dedicating an entire episode towards answering your questions! To submit a question for the upcoming Q&A episode, email podcast@nlorem.org with the subject line labeled “podcast question”. If you wish to be identified, mention your name in the email. If not, we will keep your submission anonymous. We can't wait to hear from you!
Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That's right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome.When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on Episode #143 of Once Upon a Gene where genetic counselors shared impactful rare disease stories!On This Episode We Discuss:Effie's son Ford's diagnosis with a rare disorder, CTNNB1 syndromeNavigating a condition that only 50 other people in the world hadHow CTNNB1 Syndrome affects the bodyWhat resources Effie wishes she knew about when Ford was diagnosedAdvice for other parents in the rare disease space who are thinking about having another childFord's feature in Beyond The DiagnosisMeeting other parents and caregivers of people with rare diseasesWhere people can listen to the podcastEffie's son, Ford, was recently cited as the inspiration for a new, accessible and inclusive playground in Washington, you can read the article here! We also wanted to share this awesome graphic that Effie made that includes a detailed list of different things that people can do to support a rare disease family! If Effie's story piqued your interest, check out this blog post entitled “Life Under the Looking Glass” written by Katie Lloyd about her experience battling postpartum depression all while grappling with a diagnosis.To learn more about rare diseases like CTNNB1 Syndrome, visit the National Organization for Rare Disorders, Global Genes, and the EveryLife Foundation. You can follow Effie and Once Upon a Gene on Twitter, LinkedIn, and Instagram!Stay tuned for the next new episode of DNA Today on September 30th, 2022 where we'll be talking to Chris Brandt and Sandesh Patel about Mosaicism! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (SPONSORED)TrakGene has designed a genetics electronic health record. Here's what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)
When you hear someone share their hard circumstances, do you know how to offer empathy? Would you say you know how to put yourself in someone else's shoes and really enter into the pain with them? I am so excited to talk about this today on the podcast with Amanda Shanks. She is the mother of Taylor, and her daughter has a rare diagnosis called Pura Syndrome. I love that Amanda and I are having this conversation because I think sometimes when we don't know what to say, we think it is better to say nothing. So, Amanda is going to talk to us about what is looks like to offer empathy without pity as well as what does it look like to enter into someone else's hard circumstances and put yourself in their shoes. So, Amanda is going to talk to us about what it looks like to offer empathy without pity as well as what it looks like to enter into someone else's hard circumstances and put yourself in their shoes. She is going to help us with that language, and I know you are going to learn so much from her! Book Recommendations: *I Will Push You: A Journey of 500 miles, Two Best Friends and One Wheelchair by Patrick Gray and Justin Skeesuck *Everything Happens for a Reason: And Other Lies I've Loved by Kate Bowler *Run to the Light by Laura King Edwards Books by Dietrich Bonhoeffer Podcast Recommendations: Depth Podcast Episode 52 with Chris Simning Depth Podcast Episode 86 with Katherine Wolf Amanda Shanks is a passionate writer, speaker, teacher, and advocate. She is a Licensed Clinical Mental Health Therapist specializing in Reproductive and Maternal Mental Health and currently serves as the President of the PURA Syndrome Foundation. She previously served as the Director of Fundraising for the PURA Syndrome Foundation and was a founding member and leader of the Annual World Rare Disease Day Rally of Charlotte and the Rare and Undiagnosed Network of Charlotte (RUNCharlotte). She also volunteers at Shining Hope Farms, an organization which provides hippotherapy services to children with disabilities. She has represented the PURA Syndrome Foundation and actively participates in various conferences hosted by Global Genes, NORD, and the EveryLife Foundation. In addition to her rare disease advocacy work, she serves as an Elder at Avondale Presbyterian Church in Charlotte, NC, and recently followed a call to Union Presbyterian Seminary where she is pursuing a Master of Divinity and Master of Arts in Christian Education. You can connect with Amanda on her website or on Instagram and Facebook @ToughLikeTaylor *Note: If you are interested in purchasing this book or the books recommended, I would love for you to use the Amazon Affiliate link above to help support the podcast. Thank you!
Advances in gene and cell therapies are enabling researchers, clinicians, families, and regulators to work together in incredible new ways to treat previously untreatable conditions. Listen to Christina Mayer share her efforts to advance policies that help to realize a future where gene and cell therapies are available to all individuals for all diseases. Christina is currently the Senior Manager of Government Affairs at the American Society of Gene and Cell Therapy in Milwaukee, Wisconsin. She works with federal government agencies and decision-makers to impact key components of gene and cell therapies like NIH research funding, genetic testing and screening, payment policy and patient access to approved therapies. She also contributes to the Society's work on other policy priorities, such as regulatory oversight and the responsible use of new genetic technologies. Christina has a Master of Public Administration from the University of Nebraska-Omaha. Listen with us as we imagine a future where the availability and equitable use of gene and cell therapies helps to realize the promise of a healthy future for all. Podcast Interview Questions with Christina Mayer: 1. You are currently the Senior Manager of Government Affairs at the American Society of Gene and Cell Therapy. Can you tell us about the mission of the American Society of Gene and Cell Therapy? What is your role there? 2. What an exciting and rewarding time to advocate for gene and cell therapies! ASGCT reminds us all that there are literally 1000s of clinical trials for novel therapies and over the next decade there will be about 30 approved therapies for genetic disease, not counting cancer. What can our listeners do to become more aware of these efforts and to become advocates for continued advancement and access to these life-saving and in many cases disease curing therapies? 3. In its 2020 – 2022 strategic plan, ASGCT identified access to genetic testing and screening as one of its core patient access priorities. What efforts have been made by ASGCT to advance access to genetic testing and screening in newborns? Can you describe ways that the current approach to newborn screening in the United States could be improved to enable the use of gene and cell therapies? What are ways that our listeners can get connected to your organization? 4. In Feb 2021, ASGCT provided a public comment to Advisory Committee on Heritable Diseases in Newborns and Children (ACHDNC) on the newborn screening process.In this letter, ASGCT stated its support of the Newborn Screening Saves Lives Act. Can you tell us listeners more about the history of this act? Why is it important that it get passed? What would happen if it doesn't? 5. Also, in the letter, ASGCT offers three recommendations to the ACHDNC. They are: 1) Ensure the RUSP keeps pace with treatment approvals, 2) Collaborate with and rely upon the FDA, and 3) Ensure the process to advance a disorder through the ACHDNC is transparent, predictable,and timely. Would you mind sharing the evidence that supported each of recommendations? (Perhaps, discuss the problem and why this recommendation would solve that problem) 6. ASGCT has worked partner organizations to support other NBS and you are hosting a workgroup and symposium in May to discuss advancements in NBS. Thank you for inviting Dr. Brower and NBSTRN to present during the workshop. Please tell us more about these important events and how they can participate. 7. You and Dr. Brower serve on the planning committee for an effort by EveryLife Foundation to develop actionable policy solutions aimed at ensuring newborn screening continues to advance. This includes the research facilitated by NBSTRN and ASGCT, as well as the policies that you and your team champion. Can you describe why these types of efforts to build coalitions and collaborations across different stakeholder groups are so important? 8. You have a very interesting career path and your work inspires many of us to achieve meaningful change and work to advance discoveries that save and improve lives. Can you share with our listeners what sparked your interest in the revolution that is gene and cell therapy as well as newborn screening research? 9. What does NBS research mean to you? Learn more about ASGCT annual meeting at https://annualmeeting.asgct.org To learn more about newborn screening research data tools and resources, visit www.nbstrn.org
In episode 5, we are joined by Britta Dornan of the EveryLife Foundation for Rare Diseases. Britta is the Director of Marketing and Communications for EverLife, as well as a rare disease patient, herself. Join Britta and Joseph, as they discuss the importance of sharing our journeys with others. From storytelling in a personal setting, to addressing members of Congress, it is our journeys that often effect change. Find out more about EveryLife Foundation for Rare Diseases HERE
This week, Jeremy talks to Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement at the EveryLife Foundation for Rare Disease to talk about their recent report on the economic burden of rare diseases.To read the EveryLife Foundation's report, go to https://everylifefoundation.org/burden-study/Learn more about navigating the financial harms associated with ALS at https://www.als.org/navigating-als/financial-informationSign up to become an advocate at https://www.als.org/advocacyThis episode is brought to you by The ALS Association in partnership with CitizenRacecar.
On this episode: Stephanie interviews Dr. Emil Kakkis, MD, PhD and Ryan Dant about the trials and tribulations of bringing a much needed drug to patients in a community desperately hanging on to the hope of one day having treatment and eventually a cure. Dr. Kakkis is a physician and researcher with a relentless work ethic who embarks on one of the greatest challenges presented to the MPS community; finding a treatment for an incurable disease. An incurable disease that afflicts children and adults, like Ryan Dant. Saving Ryan was written by Dr. Kakkis to shine a light on the connection between families struggling to save their children and scientists at the beginning of their careers. The book has many threads and perspectives, guiding readers through the drug development and FDA approval process. Dr. Kakkis and Ryan Dant discuss their time together during clinical trials for Aldurazyme and the family-like relationship that they've developed. Ryan speaks about what it was like as a young child in the spotlight and how receiving treatment has altered the course of his life. Dr. Kakkis not only has an incredible empathy for his patients and the desire to make a difference in their lives, but he is also a leader in the rare disease community. His experiences with drug development and the manufacturing of Aldurazyme led him to found a pharmaceutical company focused solely on treatment development for rare diseases. In addition, he is the founder of a non-profit organization dedicated to advocating for legislative changes that will positively impact the lives of all rare disease patients. To purchase a copy of Saving Ryan, download the latest kindle version from Amazon! Hardback available soon!Quotes:“What I didn't appreciate was that the science may not be fancy, but is so powerful if it can change the future of the patients in front of you…if you don't help anyone, you haven't really done anything.” --Dr. Emil Kakkis, MD, PhD“When I was younger my parents always told me to not let this disease defeat me, try to live a normal life the best that I can.” --Ryan Dant Mentioned in this episode:AldurazymeThe Ryan Dant Story on 60 MinutesThe Ryan Dant Story in Reader's DigestUltragenyxEveryLife FoundationYou may also be interested in:The Ryan FoundationRaritiesImpositivityThe National MPS Society exists to cure, support, and advocate for MPS and ML.If you like Our Voices, visit our website and follow us on social media on Facebook, Instagram, Twitter, and LinkedIn. And if you really like the podcast we'd appreciate you telling a friend (maybe even two).
Brenda Colmenares, Directora de Comunicaciones de la EveryLife Foundation para Enfermedades Raras, analiza la importancia de la concientización sobre las enfermedades desconocidas.La versión subtitulada y en ASL de este podcast está disponible en el canal de YouTube de DRNY: https://www.youtube.com/channel/UC4JcJEFJXGgiZwE4zbw2BKg.*English Translation*Brenda Colmenares, Communications Manager for the EveryLife Foundation for Rare Diseases, discusses the importance of rare disease awareness.The subtitled and ASL version of this podcast is available on DRNY's YouTube channel: https://www.youtube.com/channel/UC4JcJEFJXGgiZwE4zbw2BKg.**Resources**https://everylifefoundation.org/Social Media Handle: @EveryLifeOrgRare Disease Week: https://everylifefoundation.org/rare-advocates/rare-disease-week/ Support the show (https://donate.democracyengine.com/DRNY/contribute)
The authors of four separate studies on the economic burden of rare diseases recently collaborated on piece in Health Affairs calling for concrete steps to address gaps in data that make it difficult to track rare diseases in the healthcare system. Though the authors came to similar conclusions in their reports, they were also stymied by existing data constraints, such as a lack of codes for rare diseases, differing data structures of electronic health records, and missed opportunities to gather data through public health surveys. We spoke to Joni Rutter, acting director of the National Center for Advancing Translational Sciences; and Annie Kennedy, chief of policy and advocacy for the Everylife Foundation for Rare Diseases, about the economic burden of rare diseases, the data constraints that limit a complete understanding of the impact they have, and what steps can be taken to improve the availability of patient data.
Britta Dornan and Sarah Tompkins from the EveryLife Foundation for Rare Diseases join us to preview Rare Disease Week 2022. This important event runs from February 22 through March 2 and brings together rare patients from across the U.S. to make their voices heard. To learn how you can get involved, visit the EveryLife Foundation website here, and follow along with #RAREDC2022 on social media.
Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to learn about federal legislative issues, meet other advocates, and share their stories with legislators. Because of ongoing concerns about the pandemic, this year's event will be conducted virtually. We spoke to Britta Dornan, senior director of communications and marketing for the EveryLife Foundation and Sarah Tompkins, advocacy chair of Rare Disease Week on Capitol Hill 2022, about this year's event, why rare disease patients should consider getting involved in legislative advocacy, and how rare disease patients and caregivers can best tell their stories to lawmakers.
ENERGY IN ACTION - EPISODE 041 EveryLife Foundation Newborn Screening The EveryLife Foundation is dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policies that advance the equitable development of treatments, cures and life-saving diagnoses. Claire Ellis and Dylan Simon join me to discuss the importance of the Newborn Screening Saves Lives Reauthorization Act. Many rare disease patients are found through the newborn screening process, a full panel containing 35 disease screens. EPISODE HIGHLIGHTS What is newborn screening? Newborn screening detects conditions that, if left untreated, can cause disabilities, developmental delays, serious illness or even death. If diagnosed early, many of these disorders can be managed successfully. Newborns are screened for genetic, metabolic, hormonal, and functional conditions that are not otherwise apparent at birth. In addition to testing, newborn screening programs consist of educational and resource materials for parents and training for healthcare professionals. How can the community get involved? Anyone can get involved by reaching out and contacting their senators about Senate Bill 350 and the importance of this legislation for the community. Let them know that you support the Newborn Screening Saves Lives Reauthorization Act as it is currently written. Why don't all 50 states conduct the same newborn screening? The disorders that newborns are screened for is set at the state level and each state implements their screening program differently. We're working to pass RUSP Alignment Legislation so that as disorders are added to the RUSP, states will automatically add these disorders to their newborn screening panels. The newborn screening legislation aims to align states, implement a timeline for screening to begin, and ensure resources are available for states to fund newborn screening panels and any disorders added to it in the future. How is a new diagnosis added to the Recommended Uniform Screening Panel (RUSP)? This is done through the Federal Advisory Committee, Heritable Disorders in Newborns and Children, which is under the Health Resources and Services Administration (HERSA). The advisory committee looks at properly identifying newborns, properly treating newborns and the overall benefit. How many newborns are identified annually through newborn screening as having one of the 35 diseases? The current estimation is approximately 1 in 300 newborns, though some states are not testing for all 35 diseases on the federal RUSP. CONNECT WITH EVERYLIFE Website https://everylifefoundation.org/ EveryLife Foundation for Rare Diseases on Facebook https://www.facebook.com/EveryLifeOrg/ EveryLife Foundation @EveryLifeOrg on Twitter https://twitter.com/EveryLifeOrg
In this episode of Memoirs of Successful Women, The Transformation Queen Annie Gibbins interviews Dr Michele Wright
In this episode, I chat with Courtney Felle, a Patient Engagement Fellow at EveryLife Foundation for Rare Diseases. The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures. The Young Adult Representatives of RDLA (YARR) are a highly motivated group of rare disease community members between 16 and 30 years old, including patient advocates, siblings, caregivers, and loved ones. The main purpose of YARR is to instill confidence in the next generation of rare disease advocates. We want to ensure that young adults have a growing impact on public policy in the rare space, offer skill-building opportunities to foster growth in each individual's advocacy journey, and have diverse young adult representation across each state. YARR members will have opportunities to improve their advocacy skills no matter what level they are at and meet other like-minded young adults who want to make their voices heard. Courtney Felle (she/they) recently graduated from Kenyon College, where she concentrated in Health, Illness, and Disability Studies. As a person living with multiple chronic conditions and disabilities, including hypermobile Ehlers-Danlos syndrome, they are passionate about patient-advocate organizing, health equity, diagnostic processes, and disability justice. Previously, they interned with the American Association for People with Disabilities, the Administration for Community Living in HHS, and the Anthem, Inc. Disability Policy Engagement Team, and they co-organized student initiatives around accessibility, LGBTQ+ rights, and student workers' justice. In their free time, they enjoy crocheting, drinking too much tea, and taking long road trips. Follow YARR on Instagram: https://www.instagram.com/hearusyarr/ Become a YARR Member: https://everylifefoundation.org/young-adult-representatives/ --- Support this podcast: https://anchor.fm/theraredisorderpodcast/support
Pulmonary Fibrosis News Columnist and Forum Moderator Charlene Marshall reads an article summarizing the events planned for 2021 Rare Disease Week on Capitol Hill. Amid roundtable discussions, policy updates and documentary screenings, patients and advocates will have an opportunity to win grants through the EveryLife Foundation for a rare disease organization of their choosing. Check out all the action for this year's Rare Disease Week on Capitol Hill on the EveryLife Foundations' homepage. Are you interested in learning more about Pulmonary Fibrosis? If so, please visit: https://pulmonaryfibrosisnews.com
As we wrap up our Alport Awareness Series, I am so excited to welcome to the show, Grant Bonebrake & Maddie Martin, Volunteer Patient Advocate Alport Foundation. About Grant: Grant Bonebrake is a high school senior in San Diego, CA. He was misdiagnosed with the wrong kidney disease until age 11 when he experienced hearing loss that led to proper diagnoses of Alport syndrome, a rare genetic kidney disease. His involvement with Alport Syndrome Foundation led him to become an active patient advocate. In December 2020, Grant received the national RareVoice Award (Teen Category) for Legislative Advocacy from the EveryLife Foundation for Rare Diseases. He also volunteers with the Young Adult Representatives of Rare Disease Legislative Advocates program, and National Kidney Foundation. Grant is currently working with other teens to document the experiences and insights of young people living with Alport syndrome. About Maddie: Maddison Martin just turned 22. She was originally misdiagnosed with Glomerulonephritis at age 2 before receiving a formal diagnosis of Alport syndrome, via kidney biopsy, at 4-years-old. At the age of 20, she received the Gift of Life in the form of a kidney transplant from her high school attendance secretary, Tammy. Inspired by her Alport journey, Maddison is currently a nursing student and enjoys spending free time with her family. Listen in as Maddie & Grant share their personal journeys, the physical & emotional aspects of being a teen with rare disease and how they have embraced their diagnosis. #AlportAwareness
Welcome to Episode 004 of the Beyond the Diagnosis Podcast. In this episode we talk with Jamie Sullivan and Shannon von Felden from the EveryLife Foundation about the STAT Act, the upcoming Rare Disease Week and the impact that both of these initiatives have had and will have on the rare disease community. We also welcome Deanna Fournier, Executive Director of the Histiocytosis Association as she shares about the Association's involvement in several of EveryLife Foundation's working groups. Let us know what you think! Leave us a review, drop us a comment or email Kathy directly at kw@histio.org. Take a screenshot and tag us @histiocytosis_association on Instagram. We'd love to hear your feedback! www.everylifefoundation.org www.statact.org www.rareadvocates.org/rdw Music: “Heroes” by Noah Smith
Raising a child with a rare condition can be difficult and very costly. The https://everylifefoundation.org/ (Everylife Foundation) released a report in February 2021 that showed the https://everylifefoundation.org/economic-burden-of-rare-diseases-in-the-u-s-approached-1-trillion-in-2019-surpassing-cost-estimates-for-many-chronic-diseases/ (overall economic burden of rare disease in the US is approaching ONE TRILLION DOLLARS every year). That is an attention-grabbing number. But what does it really mean? We explore this question through Raghav's story. Talking about finances can be uncomfortable and difficult. However, following a recent summary from their insurance company, Sanath had the opportunity to tally up the costs and he thinks it is important talk about them. It was relatively easy for him to look at the medical costs because there was a clear paper trail. He breaks down those costs and you may be surprised by what he found. Next time, we will discuss the multiple unseen and unappreciated indirect costs that he and Ramya must bear. Support this podcast
This week, we speak with Lindsey Cundiff of the EveryLife Foundation for Rare Diseases about the 2021 RAREis scholarship. This fund helps adult rare disease patients achieve their educational goals. We're also joined by Veronica Tingzon, a 2020 scholarship recipient, who talks about her experiences pursuing a nursing degree. Applications for the 2021 RAREis scholarship just opened. Find out more at www.rarescholarship.org.
Today we're talking with Mark Dant. He's a dad (to a son named Ryan Dant), husband, and a volunteer board of directors chair at EveryLife Foundation in Washington D.C. as well as a volunteer Executive Director at The Ryan Foundation - both organizations exist to help families dealing with rare disease to have hope, empower their voices, and empower scientists to advance the treatments and cures for rare disease. Mark didn't start out in the rare disease world. In fact, he's retired from a 32-year police officer career where he was the police chief in Carrolton, Texas. In this episode, we really explore how Mark dealt with a pivotal moment in not only his life, but also his wife's and son's lives - that is, when Ryan was diagnosed with Mucopolysaccharidosis type 1, also known as MPS 1 - a rare disease with no treatment at the time. We hardly talk about the actual disease, but focus on the emotions Mark and his wife have been through, including sadness, grief, terror, hope, and even happiness - from the moment Ryan was diagnosed in the early 90s to today. Those emotions propelled Mark forward to find funding and a scientist - Dr. Emil Kakkis - who could and did create the treatment Ryan Dant is on today, along with so many others with MPS. This not only took courage and willpower, but emotional growth to transition from excelling at law enforcement to learning about science and the non-profit world from the ground up when libraries and books were the the primary research methods. Before we dive into today's episode, it's best if you know the complete backstory for context. So, during the interview, I invite you to watch The Ryan Dant Story on 60 Minutes with Mark. It's about 15 minutes long and you can find the link to it in the show notes at humanamplified.com/episodes/073. Here at Human Amplified, listening to Mark look back over his memories was an honor - an emotional ride where I related as being a parent. Being able to see myself there with him and Jeanne lying on the floor next to Ryan's bed, listening to him breathe - in grief, and then taking action in hope. So many of us can empathize with that. This episode will bring you to tears more than once - tears of empathy in knowing how hard grief is and how having a child is like wearing your heart outside of your chest, and then tears of joy when you hear of the power held by a group of people on a mission to change the future. Get ready to hear about an amazing chain of events that will blow your mind and inspire you to do what others say can't be done.
The economic burden of rare disease in the United States reached nearly $1 trillion in 2019, according to a new study from the Everylife Foundation for Rare Diseases. About 43 percent of that total is for direct medical costs. The balance includes such things as forced retirement, absenteeism, and presenteeism—the lost productivity of people who show up to work but are not fully functioning. We spoke to Annie Kennedy, chief of policy and advocacy at the EveryLife Foundation, about the study, its policy implications, and why the numbers are conservative.
This week, we speak with Annie Kennedy from the EveryLife Foundation about their groundbreaking study examining the economic burden of rare disease. We're joined by Marissa Penrod from Team Joseph, a Duchenne muscular dystrophy nonprofit to discuss how these numbers assist in rare disease advocacy. Read the full study here: www.everylifefoundation.org/burden-study Learn more about the EveryLife Foundation for Rare Diseases here: www.everylifefoundation.org Learn more about Team Joseph here: www.teamjoseph.org
ONCE UPON A GENE - EPISODE 070 Cure VCP With Rare Disease Trailblazer - Nathan Peck Nathan Peck is a dadvocate living with an adult onset disease. He's also the Founder and CEO of Cure VCP Disease. Through Cure VCP Disease, Nathan and his wife Allison are committed to bringing together patients, caregivers, researchers, pharmaceutical companies and other non-profits to identify treatments and find a cure for Valosin-Containing Protein (VCP) Disease. EPISODE HIGHLIGHTS Tell us about your family and the rare disease that impacts you. I'm a father of three boys and I'm married to my wife Allison. My mom came from a family of six siblings where here and three others had VCP Disease. About the time I left for college, my mom was having trouble reaching for things and was getting physically weaker. By the time my wife and I married, right after I graduated college, my mom could barely walk. The disease is much like ALS, but over a much longer time. When did you discover the genetic mutation that was affecting your family? My dad was going through my mom's medical records and we found a letter where she was diagnosed with a valosin containing protein mutation. I was later diagnosed and became interested in it and started learning more. Tell us about the organization you started. My oldest uncle created a website about what he was learning about himself, which was a resource for people to go to. We knew there were other families affected and I started thinking about data disappearing and succession planning. As an engineer, I've always been about building modular, sustainable processes and that was behind building Cure VCP Disease. There wasn't an organization representing the patients, there wasn't a patient registry and doctor's data wasn't aggregated. I'm not worried about or focused on saving myself- I'm doing the work for the patients for the future and my kids. Have you connected with other parents living with the rare disease and has that helped you? In the adult onset community, things are different, but we have a lot of common challenges. Everyone is willing to come together and share and you're part of the family. There's no prescription for this and everybody has to create their own path, but listening to others is so important. Putting yourself out there and meeting people can help you and may lead you to someone else who can help. What is your most valuable resource as a dad? The rare disease community. In getting involved with Global Genes, NORD and EveryLife Foundation, I've met so many awesome people and rare disease advocates which keeps me going. LINKS AND RESOURCES MENTIONED Rare Disease Day https://www.rarediseaseday.org/ ONCE UPON A GENE - EPISODE 024 - Choosing Hope with Jill Hawkins https://effieparks.com/podcast/008-choosing-hope-with-jill-hawkins Cure VCP Disease https://www.curevcp.org/ Global Genes https://globalgenes.org/ NORD https://rarediseases.org/ EveryLife Foundation https://everylifefoundation.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Leave a voicemail https://effieparks.com/speakpipe
Sarc Fighter: Living with Sarcoidosis and other rare diseases
Mary Morlino was living a good life. Skiing in Europe. Tennis. She was an aerobics instructor. Then one day she became very sick and it would be years before doctors could diagnose the culprit. Sarc. In Episode 16 Mary shares her story about how she has bounced back and is taking the fight to Sarcoidosis and other rare diseases by working for the #EveryLife Foundation. Listen in as Mary takes you step-by-step through her battle with sarc -- including the time she suffered cardiac arrest in her kitchen!You will want to learn more about the EveryLife Foundation, so here are some links.Main Website - https://everylifefoundation.org/Follow us on social media @everylifeorgStay up to date on how to get involved in advocacy by signing up for our monthly newsletter at www.RareReport.org To nominate someone for the Rare Voice Awards – (Nominations close September 8th, 2020). https://rareadvocates.org/rarevoice-awards/To submit to the Rare Artist program (Submission Deadline October 1st on Facebook) - https://www.rareartist.org/If you want to participate in the survey to see how sarcoidosis patients are fairing with COVI-19. Click here: https://www.research.net/r/FSRSARCDo you like "Zombie" the official song for the Sarc Fighter podcast? It's also an FSR fundraiser!If you would like to donate in honor of Mark Steier and the song, Zombie, Here is a link to his KISS account. (Kick In to Stop Sarcoidosis) 100-percent of the money goes to the Foundation. https://stopsarcoidosis.rallybound.org/MarkSteierYou can listen on YouTube as well. https://www.youtube.com/watch?v=MCbA3EDJ6Ak&list=OLAK5uy_ktdC7Pn7_ezhy4ZJzV_u7o76bqIv6cC6o The Foundation for Sarcoidosis Research https://www.stopsarcoidosis.org/FSR Summits 2020 https://www.stopsarcoidosis.org/patient-summits/Donate to my KISS (Kick In to Stop Sarcoidosis) fund for FSR https://stopsarcoidosis.rallybound.org/JohnCarlinVsSarcoidosis?fbclid=IwAR1g2ap1i1NCp6bQOYEFwOELdNEeclFmmLLcQQOQX_Awub1oe9bcEjK9P1EMy story on Television https://www.stopsarcoidosis.org/news-anchor-sarcoidosis/email me carlinagency@gmail.comSarc Fighter Facebook Page https://www.facebook.com/SarcFighter/Sarc Fighter on Instagram https://www.instagram.com/thesarcfighter/Cycling with Sarcoidosis http://carlinthecyclist.com/category/cycling-with-sarcoidosis/
Lisa Carlton, PhD, understands rare childhood diseases both professionally and personally. She was already a scientist specializing in rare diseases when her daughter was diagnosed with one: tuberous sclerosis. As VP of Global Regulatory Affairs for a biotech drug developer she is involved in development of treatments for other rare diseases too. This makes her an ideal person to co-chair an industry-patient-advocacy group called the Working Group on Regulatory Science, a part of the EveryLife Foundation for Rare Disorders that seeks to advance the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy.Tuberous sclerosis, a rare genetic disorder, affects one in every 6,000 newborns in the United States. It is a disorder that causes benign growth in almost any tissue; it’s of particular concern when it occurs in the brain, lungs or kidneys. Some people who have tuberous sclerosis may have learning problems or difficult-to-control seizures. Her daughter—one of a pair of twins—was diagnosed in utero. She’s doing well, although the speech and language disorders associated with the condition have made it hard to access the curriculum in school. Dr. Carlton talks about the challenges of developing new treatments for rare diseases and the approaches taken to try to overcome them. She also talks about her daughter’s disease, and how families can bring their best to their journey as they adapt to support their child. Based on her experience as a parent and advocate—as well as her experience in the industry—she has this advice for families: “Take a breath.” Drug development is slow, especially in rare diseases. “You are in for a marathon of supporting your child.” When possible, connect with other parents and advocacy groups. Or build your own tribe—work, friends, family, etc. “You have to be healthy and rested enough to do this. You have to be at your best.” She’s often asked how she manages to keep going. “I don’t know how I wouldn’t do it. You’ve been given this gift of a special child. Now it’s time to find your tribe and push ahead.”Her advice for a biotech company considering launch of a clinical trial for a rare disease? Nobody knows more about a patient’s journey, the patient’s experience, than the patient—or a parent or caregiver. “Just listen to what patients are saying. You are going to learn a lot.”Lisa Carlton, PhD, has previously worked in regulatory roles at the National Institutes of Health, Otsuka Pharmaceuticals and International Partnership for Microbicides. She is currently serving as Vice President of Global Regulatory Affairs at REGENXBIO, a gene therapy-focused biotech company with headquarters in Rockville, MD. Lisa received her PhD in Pharmaceutics and MS in Medicinal Chemistry from the University of North Carolina in Chapel Hill and a BS in Biochemistry from North Carolina State University.
Ilana and Sunni are joined by Annie Kennedy and Lindsey Cundiff from the EveryLife Foundation for Rare Diseases. EveryLife is a nonprofit dedicated to advancing treatment and diagnostic opportunities for rare disease patients through science-driven public policy. In this episode, they discuss the steep road to diagnosis that many rare disease patients face, ways to improve access to treatment and also the economic and social burden of living with a rare disease. Learn more about their mission at EveryLifeFoundation.org.
This week is a special episode celebrating Rare Disease Day 2020. Our guest speaker is Annie Kennedy, head of policy and advocacy at Every Life Foundation, a US based non profit organisation that works to advance the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy. Here she speaks about the organisation's initiatives on drug access. To know more about the foundation, visit https://everylifefoundation.org/ Presenter and Producer: Aparna Krishnan Contributor: Annie Kennedy, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases
As rare disease patients and advocates seek to raise awareness around the globe for World Rare Disease Day at the end of February, one notable place they will gather is on Capitol Hill in Washington, D.C. It’s become an annual tradition for rare disease advocates to talk face-to-face with lawmakers to bring the abstractions of rare disease down to a human level and speak about the needs patients and their caregivers face. We spoke to Steve Silvestri, director of public policy for the Everylife Foundation for Rare Diseases, about Rare Disease Week on Capitol Hill, the case for patients and caregivers to become advocates, and how they can go about doing so.
In this episode, Steve Smith, WCG President of Patient Advocacy sits down with Julia Jenkins of the EveryLife Foundation to discuss the impact her organization has on giving patients a voice to legislators on Capitol Hill. Julia shares how patient communities can advocate for public policy changes, improve the FDA-regulatory approval process, and educate on the effectiveness of different trial designs for rare disease drug development. Through their conversation, Steve and Julia underscore the importance of collaboration between all clinical trial stakeholders to improve the study process.
ONCE UPON A GENE - EPISODE 015 Films and Fatherhood Daniel DeFabio is joining us today to share his experience and perspective as a father of a son with a rare disease called Menkes. Daniel is a contributing author to The Mighty and the Co-Founder of the Rare Disease Film Festival. EPISODE HIGHLIGHTS Tell us about your son Lucas. The good news is that he has just turned eleven years old. He was diagnosed with Menkes at age one and we've been dealing with this rare disease journey for ten years. It's unfortunate that had he been diagnosed immediately at birth, he could have had a very different outcome. He could have had almost a symptom free path. Menkes disease is an interesting example of how important early detection can be and that's one of the reasons I try to be so vocal and raise awareness. If you're treated in the first ten days of life, you can be spared almost all of the symptoms. Despite spending the first ten days of his life in NICU for a skull fracture that seemed unrelated at the time, Lucas wasn't diagnosed and treated. Menkes is so unknown, no one thought to look down that line of research, questioning and testing. What does diagnosing Menkes entail? Is it a simple blood test? It's pretty easy to spot Menkes if you know to look for it. Things like checking the hair under a microscope helps to discover twisted hair which is a strong indicator. A blood draw can tell you the copper levels are high. Ultimately, you want a genetic scan, but if you have these easier indications, the ATP7A gene can be examined further to reveal Menkes disease. What is Menkes disease? If you have a mutation in the ATP7A gene, you don't create the protein that transports copper. Most of us do fine with the amount of copper in our diet and it's not a problem for most people. Too much copper leads to Wilson's disease and too little copper leads to Menkes disease. Copper is needed for developing the brain, your muscles and hair. Lucas has very low muscle tone. He can move his legs, arms, feet and hands a little bit, but not with any control. He can't sit unassisted even at the age of eleven. Was Lucas not hitting milestones which lead to a diagnosis after a year? One of the signs we saw of a regression was that he was able to roll stomach to side or back to stomach and then he lost that ability at eight months old. That was a big warning sign that we needed to seek out a diagnosis. In terms of a diagnostic journey, we were pretty lucky because it was very short. At four months old, he missed some milestones and we thought it was related to an early birth and the head trauma. Then at eight months old when he regressed, we kicked it into gear and saw a geneticist. For as rare as this disease is, that geneticist had seen other cases of Menkes and came back with a definitive diagnosis months later. Meanwhile, I had researched and determined that it was either going to be Wilson's or Menkes and I was rooting for Wilson's because you can live a longer life with Wilson's, but it wasn't. If it's simple to notice, has there been any movement in making this part of newborn screening? Just in the last year, there's been a lot of progress, thanks to the Menkes Foundation. Thanks to their effort, a newborn screening is now 99% accurate and is required in six states. Menkes Foundation is working with the Every Life Foundation to get this in place across all 50 states because there's such an effective treatment once it's diagnosed. What is the treatment within the first ten days of life? It's simple. You inject copper into the body. If you can process copper at all, increasing the amount of copper available in the system increases the opportunities. So much development is happening in the first ten days and to be starved of copper at that time is critical. When you get a diagnosis like this, it's heavy. How has this been a gift and a challenge for your family? I wrote a piece on The Mighty, my first coming out at a rare disease person and eventually an advocate. The piece was called "How Parenting a Dying Child Has Changed All My Expectations". You go through grief, of course. You have a diagnosis that says limited lifespan and it's a death sentence. You come through that grieving process and realize that what you're grieving is this expectation of what you thought you were going to have and what you thought a normal, healthy child was going to be. It takes a considerable amount of time and thought to get to the other side of that where it's bad, but not 100% bad where there's still good. You can say it's a death sentence, but it's not tomorrow's death sentence. There's some amount of life together with the child. How do you want to live that life? Any amount of wisdom I've gained from this starts to sound like well worn adages we already know, but when you really live it with no other choice you can embrace it more. What have you found to help when you have caregiver burnout? Very infrequently, my wife and I have a date night or a night without kids and that can help. I find writing the blog, making a film or public venting about where I'm at can be a relief. Public venting is a way of double-checking myself, determining if I'm feeling self-pity or if it's a real crisis or if anyone else has gone through something. When you hear back from people, you can recalibrate yourself. Even if you aren't trying to advocate for your child or others where more openness and transparency is better, the sharing part is worth it because people can be helpful to you. No one wants to be part of this club. It's a terrible rare disease club to be in, but once you're in it you realize how many amazing people are out there. When you tell your struggle, it's more likely people will share with you on a deeper, truer level. Let's not be afraid to tell eachother how tough it is sometimes. You've co-created the Rare Disease Film Festival which is amazing. Tell us a little bit about why you started it. After I wrote the first piece on The Mighty, Global Genes named it the Rare Patient Story of The Year. That made me think there was value and it served a purpose, not just for me but for others. I had a bit of a background in filmmaking, had made a few films and I made a film about Menkes disease in 2015 called "Menkes Disease, Finding Help and Hope". I wanted to change the Google results when people got this diagnosis, that they didn't just read the horrible prognosis that their child would live 3-10 years, but you'd find this video. Having made the film, the next step was figuring out where it could be shown, the best audience and the best ways to get it seen. Posting it online was useful and got us to a certain point, but then I met Bo Bigelow at Global Genes and he was doing similar things with his podcast and blog. He was talking about making a film and I brought up the issue of where the best places to show films like this would be. Although there were film festivals that focused on health or science topics, none focused on rare disease. In 2015, we did the first film festival in Boston and it went very well and people responded well to it. The next film festival is this May in NYC. How does a family go about creating something to submit to your film festival? We have a range from the ones of people pointing the cell phone at themselves and telling a story, which may not be the best way, but is a valid way of doing it. It's about the power of the story you're telling and not so much the way you're telling your story. We have had people find a filmmaker locally that's willing to do this as a passion project or work of charity. There are also people who are seasoned professionals and well funded. One of the things we're doing for the first time at the NYC film festival is we're going to have a hands-on workshop with seasoned filmmakers who can give people tips. Have you found that a doctor or researcher has seen a film and decided to pick up one of these rare diseases and studied it? Yes and that's the goal. We wanted to structure it so people would take the information they get from the films and start new conversations and compare notes and make connections that would move towards treatments and cures. At our first festival in Boston, a woman named Janis Creedon who appeared in Rare in Common and spoke on a panel we had, has a son who is still undiagnosed. She's struggling with that thinking he's the only one in the world. A CEO from a diagnostics company spoke and he was talking about how he could diagnose rare diseases and find other people with those rare diseases. Janice stood up and asked if he could help her son and he said he could. This past festival in San Francisco, a woman with Fraser syndrome made a film about her condition and interviewed others who had it too. When she was done with the Q&A at the festival, a geneticist came up to her and said they could help. Those are the things we like to see happen. What are some words of wisdom you'd share with a family at the beginning of their diagnosis journey? The hardest parts are at the beginning of the diagnosis. It gets easier with time. One thing that helps is when you find your people and that's probably going to be a Facebook group or even an in-person group. Seek out that community who will understand where your questions are coming from. While a community may not be a source of all the answers, it's a source of comfort and it's often more reliable than your doctor's answers. LINKS AND RESOURCES MENTIONED The Mighty Rare Disease Film Festival Menkes Foundation EveryLife Foundation Global Genes Menkes Disease: Finding Help and Hope How Parenting a Dying Child Has Changed All My Expectations Menkes Foundation Australia Finn Our Curse Rare in Common Daniel’s Blog TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram
In this episode, WCG’s President of Patient Advocacy, Steve Smith, talks with Emil Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx Pharmaceuticals and President of the non-profit EveryLife Foundation for Rare Diseases organization. Known for his work in developing an enzyme replacement therapy for the rare disorder MPS I and his connection to the Ryan Foundation, Dr. Kakkis shares with us his experiences in being involved in bringing drugs to market and forming relationships with patients along the way.
Ira Pastor, ideaXme longevity and aging ambassador and founder of Bioquark, interviews Dr. David Fajgenbaum, Assistant Professor of Medicine in the Division of Translational Medicine & Human Genetics at University of Pennsylvania, Associate Director, Patient Impact of the Penn Orphan Disease Center, Founding Director of the Castleman Disease Center, and Co-Founder & Executive Director of the Castleman Disease Collaborative Network (CDCN). Ira Pastor Comments: A rare disease is defined as any disease that affects a small percentage of the population. In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States", or about 1 in 1,500 people. This definition is essentially the same as that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures. In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people. The European Commission on Public Health defines it meaning fewer than 1 in 2,000 people, but contains some cut-offs for diseases that are not chronically debilitating or inadequately treated. The US organization Global Genes has estimated that more than 300 million people worldwide are living with one of the approximately 7,000 diseases they define as "rare" per the United States definition. Chronic genetic diseases are commonly classified as rare, and among the 7000 conditions mentioned above, rare diseases may result from bacterial or viral infections, allergies, chromosome disorders, degenerative and proliferative causes, and may effect any body organ. Dr. David Fajgenbaum Today's guest, who I'm honored to have join us to further delve into this topic, not just from the perspective of a clinician and investigator, but also as a patient himself, is Dr. David Fajgenbaum, MD. Dr. Fajgenbaum earned his MD from the Perelman School of Medicine at the University of Pennsylvania, and is an Assistant Professor of Medicine in the Division of Translational Medicine & Human Genetics at Penn, Associate Director, Patient Impact of the Penn Orphan Disease Center, Founding Director of the Castleman Disease Center at Penn, and Co-Founder & Executive Director of the Castleman Disease Collaborative Network (CDCN). Dr. Fajgenbaum leads the Castleman Research Program at Penn as principal investigator of 18 translational research studies, including an international natural history study and the first-ever NIH funded research of idiopathic multicentric Castleman disease (iMCD). His published research has changed the way iMCD is researched and treated and as a patient himself, is in his longest remission ever thanks to a precision treatment that he identified. He is also the author of Chasing My Cure: A Doctor's Race to Turn Hope Into Action Dr. Fajgenbaum co-founded the Castleman Disease Collaborative Network in 2012 to accelerate research and treatments for Castleman disease through a 'Collaborative Network Approach,' a business-inspired approach to biomedical research, which has become a blueprint for advancing rare disease research. Dr. Fajgenbaum is also the Co-Founder of the National Students of AMF Support Network (Actively Moving Forward), a non-profit organization dedicated to supporting grieving college students due to a loved one's diagnosis or death (or their own diagnosis) of a terminal illness. He co-authored "We Get It: Voices of Grieving College Students and Young Adults," a book for grieving college students and those who wish to support them. Dr. Fajgenbaum's work has been highlighted by the New York Times, Science, Today Show, Reader's Digest, Forbes Magazine, Perelman School of Medicine, World Affairs Council of Philadelphia, College of Physicians of Philadelphia, Everylife Foundation, Global Genes, and the University of Colorado. Dr. Fajgenbaum also received his MBA from Penn, at The Wharton School, where he was awarded the Joseph Wharton Award, Core Value Leadership Award, Kissick Scholarship, Wharton Business Plan Competition Social Impact Prize, Eilers Health Care Management Award, Mandel Fellowship, and Commencement Speaker., where he was a 21st Century Gamble Scholar. On this show we will hear about: Dr. Fajgebaum's background and life before his diagnosis with Castleman's disease, and his interest in becoming a doctor. The events surrounding his diagnosis with Castleman's disease in 2010. His discovery in 2012 of his own personal therapeutic regimen that helped put him into remission. His development of the Castleman Disease Collaborative Network. A discussion of drug "re-purposing" in the area of rare diseases. Finally, a discussion of his future research visions in the rare disease space. visit www.radioideaxme.com for all of the links. ideaXme is a global podcast, creator series and mentor programme. Mission Move the human story forward!™ ideaXme Ltd.
Sarcoidosis (pronounced SAR-COY-DOE-SIS) is an inflammatory disease characterized by the formation of granulomas—tiny clumps of inflammatory cells—in one or more organs of the body. When the immune system goes into overdrive and too many of these clumps form, they can interfere with an organ’s structure and function. When left unchecked, chronic inflammation can lead to fibrosis, which is the permanent scarring of organ tissue. This disorder affects the lungs in approximately 90% of cases, but it can affect almost any organ in the body. Despite increasing advances in research, sarcoidosis remains difficult to diagnose with limited treatment options and no known cure. Today's episode we are speaking with Frank Rivera from New York. Frank founded Sarcoidosis of Long Island in 2012. In 2011 Frank was diagnosed with Sarcoidosis after being misdiagnosed with lung cancer for 7 years prior. Since opening Sarcoidosis of Long Island he has been a local, state and federal advocate for Sarcoidosis. Frank strives to raise awareness for Sarcoidosis nationally, but specifically in the government sector. He has represented the Rare and Sarcoidosis community as a speaker at two Congressional briefings for Sarcoidosis. Frank is also a WEGO Health Patient Leader, the National Ambassador for Foundation for Sarcoidosis Research, a Global Genes RARE Foundation Alliance Member & Advocate, an ambassador for The EveryLife Foundation and a Working Group Member and Long Island Liaison for National Organization for Rare Diseases (NORD). Named RUGD Ambassador for Illumina October 2017. Frank was named "Person of the Year " in Brookhaven Town. Frank organized RareNY in 2016, to raise awareness for Rare Diseases in the state of New York. He organized “A Day for Rare Diseases” on October 15th, 2016 in Long Island NY, in partnership with Global Genes, to raised awareness for all 7000+ rare diseases. In recognition of Frank’s efforts, Suffolk County and the town of Brookhaven officially declared October 15th “A Day for Rare Diseases”.
Would you like your voice to be heard by your elected officials? Think that you may like to know more about advocacy? This episode is a quick crash course into EveryLife Foundation, Rare Disease Legislative Advocates, and Rare Disease Week on Capitol Hill. Lindsey Cundiff, Associate Director of Patient Engagement for EveryLife Foundation shares with us the ins and outs of these organizations and how they design events and resources to support the advocacy of all rare disease patients and organizations - by working collectively, our many voices join together to ensure that rare patients are heard in state and federal government.
We are excited to bring you the recording of a live panel following the showing of the film The Ataxian, which is the movie both of us are featured in! You probably know about the movie by now- it focuses on our team's journey in Race Across America (RAAM), the world's toughest cycling event, trekking 3,000 miles from CA to MD. This movie serves as a vehicle which introduces viewers to the FA (Friedreich’s Ataxia) community. The documentary screening was the kick-off event for Rare Disease Week on Capitol Hill, a gathering of Americans passionate about the issues facing one in ten Americans, those diagnosed with rare diseases. Each year, the Everylife Foundation arranges a week-long event for participants throughout the country to gather in Washington D.C. and learn about federal legislative issues, meet other advocates and dialogue directly with legislators. This annual event is held around Rare Disease Day, February 28. Rare Disease Week includes an exhibit by artists with rare diseases, a symposium of current efforts and information about rare diseases, a day spent lobbying Congressional representatives, and a documentary-screening of a rare disease. This year, The Ataxian was shown as the featured documentary. This episode is a recording of the panel after the movie screened. It is a mash-up of many contributors in attendance of the screening and Q&A discussion! Along with the Two Dudes, on the panel we had Dr. Angel Martin, FARA Research Program Director, and Tom Hamilton, Executive Producer of the film and a 2DD guest on episode 024. We also hear from Ron Bartek, co-founder and President of FARA, who was featured on episodes 009 & 011. Join us as we dive into the movie and patient advocacy. The film is available on video platforms now. So if you haven’t seen it yet, click your preferred platform here: iTunes • Amazon • GooglePlay
Legislation that would provide incentives to drugmakers to repurpose existing pharmaceuticals as rare disease treatments is once again in the works. Known as The OPEN ACT (Orphan Product Extensions Now, Accelerating Cures and Treatments), proponents say it would help address a gap in the drug development landscape. At one point, the bill had been folded into the 21st Century Cures Act, but had been stripped out before passage. We spoke to Max Bronstein, chief advocacy and science policy officer for the Everylife Foundation for Rare Diseases, about the legislation, why its needed, and what it will take to get passed.
For our second interview before Rare Disease Day (Feb 28), we chat with Max Bronstein, Chief Advocacy and Science Policy Officer at The Everylife Foundation for Rare Diseases. The goal of the Foundation is to help advance innovation in the rare disease community; to advance knowledge and methods of support for those with a rare disease, and to ultimately look towards developing and enabling access to treatments or cures. Max is a scientist at heart; he has been published in Nature and The New England Journal of Medicine which makes him a great ally in raising awareness of rare diseases. He uses his background in his job at The Everylife Foundation in two big ways. One way that he uses his science background is what he calls regulatory issues. He does this by continuously holding meetings with large health and biotech and pharma partners. He speaks directly to the doctors and scientists at the forefront of cutting edge research in health and medicine and reminds them of the reality of rare diseases, a field often overlooked or forgotten. Another way that Max is a voice for those in the rare disease community is by working in social policy issues. This is when Max sets up meetings with politicians so that the rare disease community is represented. This involves dialoguing with senators and representatives on Capitol Hill whenever drug costs, talks of healthcare, or any other issue related to the rare disease community arises, and also just to meet with them regularly to remind them of the reality of rare diseases. He regularly goes to both the White House and Congress. Max explains these to us and walks us through a big success that The Everylife Foundation and other organizations helped push through instituted: the 21st Century Cures Act. Keep in touch with The Everylife Foundation to keep up with all of their diverse efforts and find out how you can get involved! Visit their website at http://everylifefoundation.org/, follow them on Facebook: https://www.facebook.com/EveryLife4RareDiseases/, and Twitter: @EveryLifeOrg.
"We have a big innovation gap in this country when it comes to rare disease therapies. 7,000 diseases and only roughly 300 treatments on the market for those diseases. We have a long way to go and there's a lot of work that needs to be done if we ever want to get to the point where we have one treatment for all of those diseases or even multiple treatments - and that is what our foundation is set up and designed to do." For our second interview before Rare Disease Day (Feb 28), we chat with Max Bronstein, Chief Advocacy and Science Policy Officer at The Everylife Foundation for Rare Diseases. The goal of the Foundation is to help advance innovation in the rare disease community; to advance knowledge and methods of support for those with a rare disease, and to ultimately look towards developing and enabling access to treatments or cures. Max is a scientist at heart; he has been published in Nature and The New England Journal of Medicine which makes him a great ally in raising awareness of rare diseases. He uses his background in his job at The Everylife Foundation in two big ways. One way that he uses his science background is what he calls regulatory issues. He does this by continuously holding meetings with large health and biotech and pharma partners. He speaks directly to the doctors and scientists at the forefront of cutting edge research in health and medicine and reminds them of the reality of rare diseases, a field often overlooked or forgotten. Another way that Max is a voice for those in the rare disease community is by working in social policy issues. This is when Max sets up meetings with politicians so that the rare disease community is represented. This involves dialoguing with senators and representatives on Capitol Hill whenever drug costs, talks of healthcare, or any other issue related to the rare disease community arises, and also just to meet with them regularly to remind them of the reality of rare diseases. He regularly goes to both the White House and Congress. Max explains these to us and walks us through a big success that The Everylife Foundation and other organizations helped push through instituted: the 21st Century Cures Act. Keep in touch with The Everylife Foundation to keep up with all of their diverse efforts and find out how you can get involved! Visit their website at http://everylifefoundation.org, and follow them on Facebook: https://www.facebook.com/EveryLife4RareDiseases/, and Twitter: @EveryLifeOrg.
In the rare disease community, strength is in unity and supporting one another. February 28th is globally recognized as Rare Disease Day. Since Friedreich's ataxia, the disease shared by us Dudes, is considered a rare disease, five episodes will come out in February, instead of one episode every other week, as normal. We explain what is meant by “rare diseases” and how rare they really are. This episode contains snippets of three interviews that will be released in their entirety later in the month. Nicole Boice, the CEO of Global Genes, speaks about the importance of knowledge in the rare disease community; only by knowing all we can about whatever disorder we may face can we successfully move forward. In the second snippet, Max Bronstein of the Everylife Foundation for Rare Diseases reminds us of the importance of policy issues when seeking treatments for rare diseases. Finally Paul Melmeyer from the National Organization of Rare Disorders (NORD) emphasizes the benefits of recognizing Rare Disease Day, and what that has done for the rare disease community overall. On February 27, the day before Rare Disease Day, our interview with Ron Bartek, the president and cofounder of the Friedreich's Ataxia Research Alliance, will be released. The Two Disabled Dudes invite you to help us spread awareness this month.
In the rare disease community, strength is in unity and supporting one another. Image courtesy of debra February 28th is globally recognized as Rare Disease Day. Since Friedreich’s ataxia (FA), the disease shared by us Dudes, is considered a rare disease, five episodes will come out in February, instead of one episode every other week, as normal. In this episode we talk about what is meant by “rare diseases” and how rare they really are. This episode contains snippets of three interviews that will be released in their entirety later in the month. Nicole Boice, the CEO of Global Genes, speaks about the importance of knowledge in the rare disease community; only by knowing all we can about whatever disorder we may face can we successfully move forward. In the second snippet, Max Bronstein of the Everylife Foundation for Rare Diseases reminds us of the importance of policy issues when seeking treatments for rare diseases. Finally Paul Melmeyer from the National Organization of Rare Disorders (NORD) emphasizes the benefits of recognizing Rare Disease Day, and what that has done for the rare disease community overall. On February 27, the day before Rare Disease Day, our interview with Ron Bartek, President and co-founder of the Friedreich’s Ataxia Research Alliance, will be released. The Two Disabled Dudes invite you to help us spread awareness this month. Organizations Highlighted in This Episode: Global Genes - globalgenes.org EveryLife Foundation for Rare Diseases - everylifefoundation.org National Organization for Rare Disorders - rarediseases.org Friedreich's Ataxia Research Alliance (FARA) - curefa.org
The 21st Century Cures Act, an ambitious piece of legislation of great concern to the rare disease community, passed the House last year only to stall the Senate. Now it’s back on the radar. The legislation is moving forward again, but this time in pieces. Separately in California, proposed legislation can greatly accelerate the process that tests are added to the list of newborn screening diagnostics that are performed. We spoke to Max Bronstein, senior director of public and government relations for the Everylife Foundation for Rare Diseases, about the developments on the legislative front, what the outlook is, and why these issues matter to the rare disease community.
The rare disease community in July celebrated the passage in the House of the 21st Century Cures Act, legislation that promises among other things to accelerate the development of drugs to treat rare diseases. But the legislation appears to be stalled in the Senate as the clock is running and concern growing that it may not be getting the attention it needs to push it across the finish line. We spoke to Max Bronstein, senior director of public and government relations for the Everylife Foundation for Rare Diseases, about the legislation, where it stands today, and what it will take to see it become law.
Though there are almost 7,000 rare diseases, less than 500 drugs have been approved to treat any one of them. What that means for millions of people with a rare disease is that there’s no approved treatment they can use. There is, however, a growing effort to look at drugs approved for other uses and repurpose them to treat rare diseases in which they might be effective. We spoke to Julia Jenkins, executive director of the EveryLife Foundation for Rare Diseases about why repurposing approved drugs could greatly increase the available treatments for rare diseases, what draft legislation would do to encourage drugmakers to pursue these opportunities, and why experiences from past legislation suggest the approach could be quite effective.
http://www.einstein.yu.edu - Emil Kakkis, M.D., Ph.D., president of Everylife Foundation and Ultragenyx Pharmaceuticals, presents "Improvement of the Development Process for Rare Disease Therapeutics" at the 2013 "Transforming Clinical and Translational Research" symposium hosted by the Harold and Muriel Block Institute for Clinical and Translational Research at Einstein and Montefiore (ICTR).
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