Episode Summary:
Beacon for Rare is celebrating their 10th anniversary, announcing a new book and hosting a conference. – This week in Signalize, we’re discussing what’s in the news, spotlighting events and upcoming conferences, and sharing handy Dazzle for Rare Awareness Calendar links. We also have Acute Necrotizing Encephalitis Awareness Day, World Castleman Syndrome Day and Janssen’s disease awareness in India. As always, we want to hear from you. Send us a message on Dazzle, or leave a comment below. -This week’s episode of Signalize a Dazzle for Air podcast features information on Duchenne muscular dystrophy awareness month and the smart suit project. -Dazzleforre.Net is hosting an event in celebration of Duchenne muscular dystrophy awareness month and we are currently accepting event invitations. -The event week features live streams and opportunities to participate in the event. -To stay up to date on the event and cohosts as they join, follow us on Facebook, Instagram and Twitter.
Transcript
Note: This is the raw AI transcript to be updated at a later date. Thank you for your patience!
Transcription
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Hi, I’m your host, Kimberly Thomas Tague, and you’re listening to Signalize Dazzle for Rare Podcast. Whether you’re a patient, advocate, caregiver or a clinician, Signalize is your source for good news, personal stories, events and the things that rare and associated communities care about. Follow Signalize and Dazzle4Rare at Dazzle, the number FOUR, R A R E on Facebook, Instagram and Twitter, where we’ll post episode links, updates and more.
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Welcome to this week’s episode of Signalize, a Dazzle for Air podcast, bringing you the TLDR on the latest in the world of rare and associated conditions. This week, we’ll be discussing what’s happening in the realm of awareness, highlighting both rare and non rare events, spotlighting upcoming conferences and a quickfire roundup of global news in the rare and associated communities around the world.
And let’s not forget your Dazzle for Rare 2023 info. So strap in, get your favorite beverage or snack, and let’s do the darn thing.
What’s up in Awareness for July 1, we have Fragile X Syndrome Awareness Month, dedicated to spreading awareness and providing support to families affected by this rare syndrome. Fragile X syndrome, caused by mutation to the fMRI gene, can lead to long term intellectual disabilities. According to the CDC, FXS is caused by changes in the gene called Fragile X Messenger Ribonucleoprotein, or FMR One. FMR One usually makes a protein called FMRP that is needed for brain development. Folks with this gene mutation do not make this protein. Also there is a dedicated FXF awareness day on the 22 July. 2s July. July is also Sarcoma Awareness Month. Sarcomas are rare cancers that develop in the body, such as places like the bones and the muscles. You can find more information about these two awareness months on our Dazzle for Rare Awareness Calendar. That’s tough to say. Head over to Dazzlefor 1s net awareness. On the 1220 3 July, we have World Castleman Syndrome Day. According to Castleman Disease Collective Network, CDCN, this day is an amazing opportunity for Castleman Disease advocates worldwide patients, loved ones, physicians and researchers to come together to fight against Castleman Disease, to continue to support patients currently living with Castleman Disease, and to remember and honor those patients we have lost. World CD Day will continue to be one day a year for patients, loved ones, physicians and researchers across the world to come together and unite in the fight against this disease. A day where we can all show solidarity and our commitment to taking this disease down. On the 23rd, we have world Sjorgin’s syndrome day. The good folks at Showgren’s Foundation are interested in raising much needed awareness for this condition. It is marked every year on the 23rd, the birthday of Dr. Heinrich Shogren, the Swedish ophthalmologist who discovered Shogren’s Syndrome. On the 25th, we have Janssen’s disease awareness in India. What is Janssen’s Syndrome? Well, according to the NIH Gov, Janssen’s Metaphysal chondro Dysplasia, or JMC, is an ultra rare disease of skeletal development and mineral ion balance. JMC is caused by mutations in the parathyroid hormone PTH receptor, which is present at particularly high levels in growth plates such as bones and also in the kidneys. On the 31 July, we have Acute Necrotizing Kevillitis Awareness Day or an E Awareness Day. The Gals at An E International, Kim and Rachel, have done so much not only for the global ane community, but also for the Dazzle over the last few years. We’re always happy to share their messages of hope, support and advocacy for the families facing ane. At any stage of life, ane can be fatal, and those who survive this encephalitis are left with serious long term effects. According to the ane website, acute Necrotizing Encephalopathy, as described by Guard in the United States, is a rare disease characterized by brain damage or an kephalopathy that usually follows an acute febrile disease, mostly viral infections. The symptoms of the viral infections such as fever, respiratory infection and gastroenteritis, among others, are followed by seizures, disturbance of consciousness that may rapidly progress to a coma, liver problems and neurological deficits. 2s You. Now we have some non rare awareness. The National Minority Health Awareness Month is also in July. Mental health is as important as what we traditionally think of as our physical health. The two are intimately intertwined, often exacerbating one another when stress, depression, anxiety or other things pop up in life. No in depth conversation about rare disease is truly complete without acknowledging the impact of environmental and situational stressors in our lives. With that said, again, July is National Minority Mental Health Awareness Month. According to the Health and Human Services Department in the US. This month is observed each July to bring awareness to the unique struggles that racial and ethnic minority communities face regarding mental health and wellness issues in the US. Accessing mental health care in the US. Has been historically very difficult, especially for minority groups. 1s It’s just not great, and there’s so much more that we could be doing. What you are able to access may come down to your geographic location in the United States, community support and services, and your own financial means. Now is a good time as any to have an open dialogue about how the pandemic and other isolating factors such as virtual workspaces and other nontraditional settings have impacted the mental health of folks worldwide with all the blessings of technology and innovation. There’s also many issues that need to be addressed in an open and honest manner. While National Minority Mental Health Awareness may not be rare, it is just as important as any other awareness event. The guys, gals and nonbinary pals in our lives who intersect with communities of color and other minority groups deserve our combined support to help us all live healthier lives in as many ways as we can. The big Listen Day happens on the 24 July annually, and this is in celebration of the Samaritans. But who are the Samaritans in the UK? To paraphrase a statement from the official Samaritans UK website, whatever you’re facing, a Samaritan will face it with you. Every 10 seconds, samaritans respond to a call for help. We’re here day or night for anyone who’s struggling to cope, who needs someone to listen to without judgment or pressure. We offer listening and support to people and communities in times of need. Every life lost to suicide is a tragedy, and the Samaritans vision is that fewer people die by suicide. That’s why we worked tirelessly to reach more people and make suicide prevention a priority. While many may think of the Samaritans as the suicide prevention hotline, they offer so much more. If you’re struggling with any life issue or stressor, there is someone available twenty four seven to talk you through the moment with compassion and without judgment. They’re a great resource to folks in a time of need or crisis, which is why I’m including them here. Not only is the service they offer a great value to folks in the UK, but also a reminder that wherever you are, in the world. There is someone willing to listen to what you’re dealing with. And there are so many Good Samaritans out in the world for each and every one of them. I’m very grateful. 2s Next. We have some offline and online stuff coming up. We have the rare summit in October of 2023. I am just giving y’all some advance notice because if you’re like me, you will hear this and still forget to grab your tickets. Procrastinators unite. This year CAMRA Rare Summit will be taking place on the 12 October. In person, the event brings together over 300 minds in rare disease. Get your tickets on Cam Rare Disease.org and be ready to make new connections, brainstorm with other rare advocates and leaders and debate what’s possible in our communities in an open and safe environment. Again, you can find more information and get your tickets from Camrardisease.org. And now we have a little information from the Health union. Formerly we Go Health. The health union will be hosting their annual social Health connection conference. The conference is described as being for health leaders. Folks can engage virtually, which I love, on the 25th and the 26 July. It’s an opportunity to connect with other leaders in the U Rciid space or undiagnosed rare chronically invisibly ill and disabled spaces. And according to the health union website, they will have sessions on health leadership and creating or redefining your advocacy goals. They will also be sharing a quote unquote big news that will take your health leader skills to the next level. The conference will wrap with the Social Health Awards ceremony honoring the health leaders across all condition areas and platforms. And a note on the Social Health Awards the judging has begun. Nominations and endorsements are now closed. So all we can do is wait for the Social Health Connection Conference coming up. 2s Fighting the Rare is an upcoming documentary highlighting the significance of biomedical research in discovering treatments for rare diseases, specifically focusing on Laphora disease, a rare neurodegenerative condition. Through compelling testimonies from researchers, patients and their families, the documentary sheds light on the ongoing efforts to unravel the mysteries of this rare disease. Look out for the release on the 26 June 2023 on their website fightingtherrear.com. And another piece of rare disease media is take Care of Maya A Netflix documentary the documentary Take Care of Maya tells the story of Maya Kowalski and her family’s battle with a rare condition. The film explores Maya’s journey from admission to hospital to her parents fight to bring her home, shedding light on the challenges faced in the healthcare system. Maya’s condition, suspected to be complex regional pain syndrome known as CRPS, led to controversial treatments and ultimately resulted in her mother’s tragic death. Now 17, Maya continues to experience severe pain and her family has filed a lawsuit against the hospital. This documentary is available on Netflix UK starting the 19 June. However, check listings where you are located to find out out when this documentary will be available to you. According to Nord, CRPS affects approximately one in 200,000 Americans. 2s Yeehaw. We have a little bit of a rare news roundup, so here’s the HAPS in the rare and associated communities. Right now. We are celebrating Beacon for Rare’s birthday and their news. The good folks at Beacon have a 10th anniversary coming up in July, so congratulations to them. It’s a big month as they also have a rebrand launching and have received some funding from the National Lottery. Beacon has received almost 405,000 pounds in funding over three years from the National Lottery to support its Empowerment program for rare disease patient groups. The funding will enable Beacon to expand its program, offering accessible and inclusive in person, online and hybrid events. The newly launched Resources Hub will provide on demand training for patient group leaders, aiming to equip them with the knowledge and confidence to advocate for their communities. Vegan aims to support smaller patient organizations in driving change for neglected conditions through effective training and support. In just a moment, we have another Lottery winner, so keep listening for that news, but in any event, great stuff for Team Beacon. Congratulations. You can learn more about Beacon for Rare and how you can access the new hub on their website, resourceshub rarebeacon.org off the Back of the Adira Conference We have an Adira book to be published. During the recent Adira or Equality and Diversity and Research Association conference, sponsored by Couch Health, Costello Medical and supported by Beacon for Rare, it was announced that there will be a forthcoming book about the Adira experience. This was announced by Adira co chair Professor Andrew Mitchell. While we don’t have a lot of details yet, stay tuned for more information as it becomes available and for opportunities to participate in Adira. We’ll drop a link to episode 17, Traveling the Road to Adira in the show notes. 2s You may recall that Duchenne muscular Dystrophy awareness month was recently we have some more Duchenne news. Duchenne UK revolutionary suit for kids with the charity Duchenne UK, in collaboration with project partners and support from NIHR CYP and Medtech, have a grant for over 1 million pounds from the People’s Postcode Lottery Dream Fund to develop a smart suit that provides upper limb assistance for children with Duchenne muscular dystrophy or spinal muscular atrophy. The project aims to improve the everyday lives of these children by creating a suit that would be uncomfortable to wear. In a significant milestone, children with Duchenne have already tried an early prototype and provided valuable feedback to enhance the design. The team at Duchenne UK, along with their expert partners including NIHR CYP, Medtech, Medipex and NIHR Devices for Dignity and the Medtech Cooperative, are working toward commercializing the smart suit and exploring avenues to make it widely accessible to as many children with the condition as possible. The devastating impact of losing upper body strength for children like Eli, who lives with Duchenne muscular dystrophy, is highlighted by Duchenne UK founder and Eli’s mother, Emily Rubin. Activities that many may take for granted, such as feeding oneself, brushing teeth, raising hands in class can become impossible without assistance. The Smart Suit project aims to address these challenges and empower children with greater independence. Nihrcyp Medtech is playing a crucial role in identifying market opportunities, mapping the ideal route to market and exploring the mechanisms to ensure availability of the suit. The focuses on intellectual property, strategy and design, and the goal of achieving freedom to operate and maximizing the suit’s impact on lives of children with Duchenne. 2s Pompey disease patients dying for treatment in India. Several rare disease patients in Haidarabad, including seven month old Khana Rudraksha, have died while waiting for clearance of a 3 million rupee central fund that would have supported treatment for Pompy disease. The delay in obtaining clearances from the Ministry of Health and Family Welfare Committee has resulted in the loss of lives and financial struggles for patients. The Policy for Rare Diseases, introduced in 2021 allocates RS5 million as a onetime fund for each rare disease patient, but many are still awaiting financial support. The clearance process is time consuming, involving evaluations and the procurement of imported medications, causing further delays and challenges for patients in accessing necessary treatments. And one more story in the news for the global rare community a social media clean fluenza’s young son hospitalized with Kawasaki disease clean fluenzer? I think that’s a new social media term. Sophie Hinchcliffe, known on social media as Mrs. Hinch, recently shared that her three year old son, Ronnie, has been diagnosed with Kawasaki disease after being rushed to hospital with serious symptoms. Kawasaki disease is a rare and serious condition which primarily affects children. It is characterized by inflammation of the blood vessels, including those supplying blood to the heart. The cause of the disease is not fully understood, but it is believed to be genetic, environmental and immunological. All of these factors, converging designs and symptoms typically appear in phases and may include high and persistent fever, redness swelling of the hands, feet, rash, bloodshot eyes, swollen lymph nodes, and peeling of the skin. If left untreated, the disease can lead to serious arterial complications. After receiving treatment, Ronnie was able to return home, but the experience has had an impact on the family. Mrs. Hinch has shared her gratitude to the hospital staff and has appealed to the public for awareness and support for Kawasaki disease, emphasizing the need for future understanding and research into the condition. 3s Well, I don’t know about you folks, but this episode feels like it has been jam packed with information from our global community. If you have news, events, webinars or other projects that you want to signalize, reach out to me. Email me at kimberly at dazzle. The number four rare net that’s Dazzleforre net, also Dazzleforre 2023, is quickly approaching. We have eleven confirmed cohosts, but we’re waiting for so many more of you to accept your Facebook event invitation. If you’re unsure how to cohost or how you can participate, reach out to us and a member of Team Dazzle, Carrie Titina, or I will get back to you. We can’t wait to see more of you. Register for this year’s event on dazzleforre. Net. Participate so that you can have total control over your information, contact details and messages right there on the website. No need to email me your message or ask me to make changes, as you can do that all yourself right there on the website. It’s easy to do and takes only a few minutes. We look forward to sharing more info soon on ways to participate and potential live streams coming up during the event week, so don’t miss a beat. Subscribe to the podcast to stay up to date on the event and cohosts as they join. 4s Thanks for listening to this week’s episode of Signalize a Dazzle For Air podcast. To stay up to date on the podcast and Dazzle For Air, follow us on Facebook, Instagram and Twitter at dazzle. The number four rare rare. And finally, if you liked this episode, share it with a friend and tag us on social media platforms 5s our channel.
