The Rare hour with Christopher Velona

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

In this episode, we break down all of the sponsors and the fun day for the second, annual Rare warrior 5 x 5 challenge

Do better, be better!

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

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.

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.**

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.

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

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…?

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

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

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/

Listen today as our guest Jessica Calhoun keeps it real through accountability, weight loss, sobriety and motivating others through the truth and obstacle courses! You can follow Jessica on social media!! 

Instagram: www.instagram.com/jessicalhoun

Listen as we recap the highs and the lows of 2019. From multiple seizures to shutting down an NFL raffle, Throwing out the first pitch at the Dodgers game, standing toe to toe with Dana White and the UFC, to creating the most awareness to date in the state of California with Assemblywoman Christy Smith.

Please visit www.projectsebastian.org to make a donation today to save a child tomorrow.

Sebastians MRI...:(

The rest of the years going forward. :)

Listen as Tracy Kirby discusses her role as one the Nations largest advocates in helping families affected by Batten disease find love, hope and support.

Why do we react so badly, Why do we run? Why are we crippled with fear? 

Its ok ....It just is...

ENTREPRENEUR, WORLD TRAVELLER, DJ, CELEBRITY PODCASTER, & LIFE ENTHUSIAST AND SPECIAL NEEDS ADVOCATE. Vernon tells his story about helping his family from across the country while discovering his true calling.