The Rare hour with Christopher Velona show

The Rare hour with Christopher Velona

Summary: Join us for a one-hour rare disease community support group. Here we will discuss the topics that affect your daily life in rare diseases as well as special needs. Being a parent is hard but having a child in rare disease takes a special kind of person and the journey is filled with potholes along the way. The pathway may never be clear, but together we can navigate by supporting each other. P.S. we are not a glum lot!

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Podcasts:

 Today was a good day... | File Type: audio/x-m4a | Duration: 361

Well, there are some good days and then there are some bad days here in rare diseases. Here is one amazing day!

 When the promise of Gene therapy does not apply to your child | File Type: audio/x-m4a | Duration: 2975

On today's show, our guest is Batten CLN8's dad, Muhammad Dawood, who talks with us about Hannah, his terminally ill child. From a normal life to a nightmare of testing to broken hopes for therapy. Muhammed explains what it was like, what happened and what is like now in today's rare disease world and gives a few important tips for parents just coming into this disease. To support Hannah and follow her on social media: Instagram: @hanna_cln8

 Rare thoughts... Frustration | File Type: audio/x-m4a | Duration: 361

Recorded this episode right before my first 5K fundraiser. You can hear the anger, resentment, and frustration all around me. Tonight more than ever I need my rare disease support group! To join us for our rare disease support group on Zoom head over to projectsebastian.org and hit the meetings tab and click on join now at 7 PM Pacific.

 Rare thoughts | File Type: audio/x-m4a | Duration: 486

Mostly random thoughts that I am struggling with at this very moment!

 We all want CURES! | File Type: audio/x-m4a | Duration: 2807

Today's guest: Monica Dudley-Weldon Her son was the 6th child diagnosed in the world! In November of 2012, Monica's twin son, Beckett, was the first to be diagnosed at Texas Children's Genetics Clinic with the gene mutation SYNGAP1. When Beckett was 4 months old, we noticed he was not meeting the same milestones as his twin sister. We then began a journey to find answers to help our son. She began to blog about his progress & this led to building a community of parents & caregivers & a strong support group. She is the Founder, President/CEO of Bridge the Gap – SYNGAP Education & Research Foundation. It is her passion to help support these families by raising awareness & creating a strong foundation that will accelerate a path to better therapies. She retired in 2016 after 23 years in education teaching secondary science. Her new focus is on building the programs & mission of Bridge the Gap – SYNGAP Education and Research Foundation. She is the Primary Investigator on the SYNGAP1 (MRD5) Registry & Natural History Study. She is a life member of the Worldwide Association of Female Professionals, DIA 2016 Patient Scholar, a member of the first-class of 2017 Illumina Ambassadors established in the United States, and a member of Women in Bio – Capital DC and Texas Chapters.  In addition to leading the foundation, she is an author, public speaker, consultant on rare disease business strategies & advocates for rare disease legislation at both the federal & state levels. Several of her authored scientific publications include Nature Neuroscience, The Journal of Neurodevelopmental Disorders, The Journal of Pediatrics, and Value in Health Journal. She is also an internationally known editorial contributor and key opinion leader for Pharma Boardroom, London. She has authored a book about her son Beckett’s diagnostic journey called “Slow Moving Stream - My Special Boy”. She is a graduate from East Texas Baptist University with a Bachelor of Science in Biology/Psychology (1991) & Secondary Certification in Education (1995). She is a Northwestern University Pritzker Law School candidate earning her Master in Science Law with a concentration in health and data privacy law. The projected graduation is in the Summer of 2022. She has five beautiful children, Haleigh (29), Taylor, USMC (27), Sawyer (24), & the twins Beckett & Pyper (13). A Global Genes 2015 & 2016 RARE Champion in Advocacy Award nominee & WEGO Health Awards Nominee for years 2015, 2017, 2018, 2019, 2020, & 2021 and chosen as a Global Shakers Rare Disease Awardee 2020 and 2021.  To get in touch with Monica or follow her on Social Media: Founder of Syngap1 President/CEO SYNGAP1 Foundation 1012 14th Street NW, Suite 500 Washington DC 20005 O: 240-347-0302 C: 832-671-0010 Website: http://www.syngap1foundation.org Facebook Page: https://www.facebook.com/SYNGAP1Foundation Twitter Page: https://twitter.com/Syngap1Fnd Instagram: https://www.instagram.com/syngap1_foundation/ Linkedin: https://www.linkedin.com/company/syngap1foundation/

 The Special Needs Sensei | File Type: audio/x-m4a | Duration: 1733

Meet sensei Richard Dolan, a 3rd-degree blackbelt in the art of Kenpo. Rich is a resident of Santa Clarita Valley California and gave up his radio career to be an instructor in the self-defense arena. Along that way, he realized that making people happy was his calling. Listen on as he describes his greatest joy by including the special needs and rare disease community inside his dojo. To get a hold of Sensei Rich and find his social media: Z-ULTIMATE SELF DEFENSE STUDIOS - VALENCIA 25844 Mcbean Parkway, Valencia, Ca 91355 Phone (661) 414-9070 Fax (661) 253- 9050 email~ valencia@zultimate.com website~ www.zultimate.com and www.zultimatevalencia.com Facebook~ www.facebook.com/zultimatevalencia Instagram ~ @zultimatevalencia ** please excuse the misinformation as the Batten disease child that passed away was from CLN1 and not 3 as stated in the recording. My apologies to the family and all of my listeners.**

 Welcome | File Type: audio/x-m4a | Duration: 986

Welcome to a new era, and a new show. On the Rare hour with Christopher Velona, we will share people's struggles, stories and discuss relatable topics in the rare disease communities. This will be a part interview and part topic-based show about all things Rare. Special needs families will bring to the attention of the casual listener what is like in dealing with their rare child, friend, sibling, or job. Doctors, family, and friends are welcome to be on the show and or just listen in. We want to bring the entire rare disease community together. Let's face it, with over 7000 plus reported rare diseases, we all can use a hug.

 EFFIE PARKS | File Type: audio/x-m4a | Duration: 3200

I recorded the show prior to finding the perfect name for this podcast. The new name of the show is "The Rare Hour" with Christopher Velona. I dedicate this new beginning to our premier guest… Mrs. Effie Parks Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings.  After moving to Washington and marrying her husband, Casey, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy.  Effie also has a daughter, Ezzy age 3, who gives her a run for her money in the speaking category. Effie is also the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare diseases.  You can check out Effie's current work through these links below! https://www.curectnnb1.org/ https://ctnnb1-foundation.org/our-team/ www.effieparks.com https://www.thedisordercollection.com/

 Dr. Drew | File Type: audio/x-m4a | Duration: 3013

Dr. Drew tells all... "It's the leadership... that's the problem..." Listen on as Dr. Drew talks about his early days from humble beginnings as a doctor to create a new space in the addiction recovery arena. From doctor to national TV host to Podcaster, Drew has never forgotten why he got into this profession...To help others. You can find Dr. Drew on these platforms and of course at his website Dr. Drew.com Adam and Drew show https://adamanddrdrewshow.com/DrDrew podcast DrDrew After Dark Daily Dose https://www.youtube.com/channel/UCEM8p2TCieVJCbw2-03xpRwLinktree

 New Show. | File Type: audio/x-m4a | Duration: 185

We are changing things up around here. We have a new podcast and an entirely new show. Welcome to CSG consultants. Where we create time for you. This podcast was created around the idea of helping others connect. The new show is titled connections with purpose. Give us a listen and tell us what is your purpose…?

 "We knew nothing about this..." Kristen Gray | File Type: audio/x-m4a | Duration: 4112

Wife, mother, advocate, and businesswoman, Kristen Gray shares her story about the heartbreaking battle into the unknown...Batten Disease. "In my wildest of wildest fears did I ever think what it ultimately would be"  From normalcy to misdiagnosis to MRIs, Kristen Finds strength and power in her partner.  Kristen and Gordon Gray have paved the way for many doctors, physicians and pharmaceutical companies to start thinking outside the box, as both of their children fight for their lives.  Gordon Gray, a Hollywood producer, turned childhood disease advocate was able to rally some of his Hollywood friends to create an awareness campaign that catapulted Batten disease research. Truly a power couple.  There are no treatment options or cure at this time for any variant of Batten disease. It will leave your children blind, immobile and cognitively impaired, and ultimately, dead before a full life of normalcy. Kristen reveals the one hard lesson learned..." research, research, research! Listen on as the co-founder of Charlotte and Gwenyth Gray Foundation Refuses to listen to the old ways as she and her husband move science forward into the Gene therapy space to help their girls and many others in the process. To find out more about the Charlotte and Gwyneth Gray Foundation please visit: http://www.curebatten.org/ http://www.thegrayacademy.org/ Facebook: Curebatten Thegrayacdemy Instagram: @curebatten To reach Kristen directly: graygirlsfoundation@gmail.com

 The Cystic fibrosis financial planner | File Type: audio/x-m4a | Duration: 2566

Meet Steven Lee. A Man that has three full-time jobs. Father, husband and brings community and awareness through his financial services. But let's talk about why Stephen is on the project Sebastian podcast. The father of two children Rebecca 8 and Sampson 5, Steven works from home while taking care of his two children. One of which requires treatments twice a day for breathing to counteract the cystic fibrosis. Cystic fibrosis affects the cells that produce mucus, sweat, and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas. Although cystic fibrosis is progressive and requires daily care, people with CF are usually able to attend school and work. They often have a better quality of life than people with CF had in previous decades. Improvements in screening and treatments mean that people with CF now may live into their mid- to late 30s or 40s, and some are living into their 50s. With a desire to make the best of his life he puts his family first and devours any ounce of information on how to help others in the CF world. Financial Planning Research site: www.georgejamesassociates.com LinkedIn profile: https://www.linkedin.com/in/stevenleegja Twitter handle: @sleegja YouTube link: GJA Channel Cystic Fibrosis Foundation: https://www.cff.org/ Extra Life Team Site: https://www.extra-life.org/team/51066 Also, you can subscribe to Steves financial planning research blog and check out my SSRN author page and reach out to Steven below as well: Steven Lee Executive Vice President George James & Associates t 951.888.0734

 Lucy Faith and her Army | File Type: audio/x-m4a | Duration: 3600

The journey of one family struggles with not one but two diagnosed children with batten disease. listen about Ollie and Amelia's fight for the right to get life-saving therapies as Lucy and Mike Faith take on the English government! From healthy children to seizures and a meeting with Prince Harry, This brave family kept fighting to save their children's lives, eventually getting Enzyme Replacement therapy. A first-ever feat in the UK.  Along with an army of England behind them, this family broke through every wall in front of them to get Ollie the best treatment possible. Then Amelia was diagnosed positive as well...  "As parents, we have found it a constant struggle with doctors and other health professionals to get Ollie and Amelia the best care. We will arrive at hospitals in emergency situations and doctors don’t know what to do as the disease is so rare they have never seen another child with this condition. We end up having to tell the doctors how to treat our own child, as we are the ones who have done the research, we are the ones living the nightmare." One family. Two children with Battens Disease. To reach out to Lucy and help her in the fight to save her children visit: olliesarmy.co.uk Facebook: @olliesarmybattlingagainstbattens Twitter: @olliebobsarmy --- Support this podcast: https://anchor.fm/christopher-velona/support

 Josh the super uncle! | File Type: audio/x-m4a | Duration: 2045

Joshua Ervasti, otherwise known as a super uncle. Listen today as Josh tells the story of one courageous little girl battling brain cancer and the sport that spiked a movement.  Maddie Cunningham had Medulloblastoma at the age of three. This Horrible type of brain cancer attacks the cerebellum creating a very difficult life of cognitive loss and fine motor skills as well as balance. Through a loving family and a super uncle, they created Maddie Cunningham's classic volleyball Challenge to bring awareness and funds to help all children suffering from medulloblastoma. Maddie has been in remission for some time and is 17!  To find out more and to contact Josh, please visit: http://www.maddysclassicvolleyball.com/ Facebook: http://www.facebook.com/MaddysClassicVolleyball Jervasti0824@gmail.com

 Melissa and Haley~Heros | File Type: audio/x-m4a | Duration: 2939

Meet Melissa Pollman: Mom, wife, entrepreneur, advocate and holds an MBA in Management. Listen in as we hear this family gal's story from Oregon about her daughter Haley, and the change that would come from a horrible diagnosis of Batten disease CLN1. From the business owner to Batten advocate she not only created a foundation but took on TEDx speaker series earlier this year to raise more awareness to find a cure. You can follow Melissa on these social media platforms: Facebook: Melissa Pollman                     Haley Heros Foundation Instagram: https://www.instagram.com/haleysheroesfoundation/ Twitter: https://twitter.com/haleysheroes Tedx: https://www.ted.com/talks/melissa_pollman_vision_without_sight?fbclid=IwAR1zOreo11BYufd1uZujKiVIJU5FBFk70UQpeksp4lWM1b7fO5WNkT8IlKk https://haleysheroesfoundation.org/

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