The Rare hour with Christopher Velona

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.

David has a rare disease called Cowden Syndrome and is from the U.K. He set up a rare disease men's mental health group three and a half years ago to give men a chance to share their experiences and listen to others going through similar experiences. He has currently increased the meetings to two times a month and is working with Eurordis in a mental health partnership network and social policy group. To reach out to David for more info you can email him at: dsross2013@gmail.com

On today's Rare Thoughts, I give my opinion about the summer conferences so far. Also, I discuss why people are so nasty in Rare diseases.

Welcome to our summer series. You probably noticed a change in the intro right? Lol. We believe summer should be full of fun, good vibes, and great tunes! Was Michael A founded Rare Patient Voice in 2013 to give patients and family caregivers with rare diseases, the opportunity to voice their opinions and research studies. This year the company celebrates its 10th anniversary. Rare Patient Voice has now conducted thousands of studies and rewarding patients and family caregivers with over $10 million dollars for their participation. Many have been recruited in person by West himself at patient events and through a robust referral program with patient advocacy and support groups. Rare Patient Voice now covers non-rare as well as rare diseases and conditions and has expanded from the United States to Canada, the United Kingdom, France, Germany, Italy, Spain, Australia, and New Zealand Before launching Rare Patient Voice, Wes worked for healthcare market research firm Cantar health. He previously was a brand manager in marketing research manager at McCormick, the spice Company, and General Mills, working on Wheaties, total and kix cereals. He has a BA from the University of Pennsylvania and an MBA from the University of Chicago. I like to think of Wes, regardless of all his many accolades, as just another good dude and rare patient advocate. He is helping the community through one research study at a time. You can find Wes and the RPV team through these social media platforms: Website: https://rarepatientvoice.com Facebook: https://rarepatientvoice.com Insta: https://www.instagram.com/rarepatientvoice Linkedin: https://www.linkedin.com/company/rare-patient-voice

Do better, be better!

Gina Mundy is an attorney specializing in childbirth cases. For over 20 years, her focus has been investigating and analyzing mistakes that arise during labor and delivery. She has spent countless hours meticulously scrutinizing childbirth cases, conducting interviews with delivery teams, and thoroughly examining medical records to understand every decision made during labor and delivery. Throughout her career, Gina has traveled nationwide, engaging with healthcare professionals such as doctors, nurses, and midwives to explore all aspects of labor and delivery. These interactions have provided her with invaluable insights, enabling her to appreciate the diverse perspectives in different regions of the country.isIn June 2023, Gina's book "A Parent's Guide to a Safer Childbir was published in June 2023ed. The book helps parents to avoid mistakes during childbirth and have a healthy baby. Instead of getting involved after a mistake was made, Gina gets involved before childbirth to help prevent the mistakes. To find out more about Gina, please visit her socials below: Website: www.ginamundy.com Linkedin https://www.linkedin.com/in/gina-mundy Instagram https://www.instagram.com/ginamundy Facebook Facebook: https://www.facebook.com/profile.p hp?id=100093989808329

Join us, as we recap the best in the worst of 2022 through Project Sebastian, CSG, relationships, addiction, mental health, family, and the difficulties of living in rare. You can find us on Social Media here: https://www.instagram.com/projectsebastian1/ ~INSTA https://www.facebook.com/projectsebi ~ FaceBook

Today I talk about why am angry in this rare disease space.

The first two weeks of September or very painful and challenging. However, what does not kill you makes you stronger right? Thank God for my friends at global genes. The rest of the month should be easy!

Megan is changing how rare disease families interact. With the help of social media, Megan's spin on the day-to-day lives of rare diseases has us laughing a bit more. You can see in her Instagram reels as she tells the truth through deadpan humor.  You will like this creator for sure on today's show! Megan is a mom to twins — identical 18-year-old girls — and a 14-year- old son. She, her husband, and her kids live just outside of Phoenix. She is a writer, caregiver, and mom. Maybe most importantly, Megan is also an advocate for rare diseases and rare disease caregiving. She feeds her soul with her career and works at ANGEL AID CARES uplifting other caregivers. She is currently the chair of the Arizona Angioma Community Alliance and treasurer of the HOD Association in her “free” time. Follow her on Facebook, or Instagram, or check out her website! meganloden.com Facebook: https://www.facebook.com/megan.loden.5?ref=bookmarks Instagram: https://www.instagram.com/megan.loden/

Stop wasting time and waiting on others to help you or your children. It's time for you and others to start moving this needle and start helping other children and families with support.

In today's episode, we chat with a gentleman who was diagnosed with a rare disease in mid-life!!  Meet Dan Dry-Dock Shockley (Veteran) Retired Navy, Operation Desert Storm; Enduring and Iraqi Freedom veteran and 10-year rare disease virtual international live-case presentation. Diagnosed w/hereditary colon cancer syndrome, attenuated FAP, in 2012. As a result of hereditary colon cancer syndrome diagnosis and colon removal surgery, I have an ostomy. An ostomy is a type of surgery that creates an opening in the abdomen that causes a change in the way stool exits the body. So I wear a prosthetic pouching system. You would never know it if I didn’t tell you. It's important to note that attenuated FAP is an autosomal dominant germline mutation. Dr. Henry T. Lynch, the founding father of hereditary cancer research, is credited with discovering AFAP. It's estimated that less than .03 percent of the global population are impacted by AFAP. I undergo routine endoscopic surveillance to monitor its progress. Last year I underwent successful pancreas-sparing duodenectomy resection surgery @ Stanford University Hospital. This surgery is directly related to AFAP. I've embraced this diagnosis from the onset and created an acronym for ADAPT: Attitude Determines the Ability for a Positive Transformation.  Early detection is vital. I'm living proof. My purpose is to educate the world about AFAP as a virtual international live-case presentation for AFAP, continuing the legacy of Dr. Henry T. Lynch, on the importance of early detection in hopes of saving lives.  Here are some groups that Dan collaborates with pertaining to attenuated FAP: http://fapgene.com/ https://coloncancerpreventionproject.org/ You can follow him on social media: Twitter: @dryshockley   LinkedIn: Dan Dry Dock Shockley 

Today we celebrate a new milestone for sebastian… His 19th birthday!

On today's show, we have my Mom, Michelle Velona. She is a grandmother, mother, widow, friend, and rare disease advocate. During her lifetime of service work, just like all families, she had no idea what type of grandma she was to be. Listen as she tells her story of how a rare diagnosis changed her life as a grandparent.

Just a quick check-in to let you know what's going on with Sebastian and his Batten disease… This episode just seemed to roll off my tongue. I finally was able to put my thoughts into a microphone without having to worry about what you think. I think the therapy is helping LOL

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

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

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

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/

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.**