Once Upon A Gene – Details, episodes & analysis

ONCE UPON A GENE - EPISODE 245 Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie Mariah Gillaspie is the mom of Abby and Emma, who both have a genetic condition called THAP12, and they're the only known patients in the world. Mariah is the Founder of Lightning and Love and an active rare disease advocate. Most recently, she's shifted her focus to community and established the Colorado Mama Tribe. EPISODE HIGHLIGHTS Can you tell us about the Colorado Mama Tribe? It's been a passion project for me that came out of necessity. When I was new to raising children with rare disease, I was very alone and lost, desperate to find someone who shared a similar story to me. It started with a small group of moms getting together and we've now grown to 400 members. We have monthly meetups for moms, which serves as a social opportunity, but also an opportunity to share and be supported by a community who gets it. We also have a yearly respite retreat and we put together care packages for moms in the hospital with their kids. We recently started providing free group and individual therapy for moms and we've started a bereavement group. How do you fundraise and support your programming? As we've grown, we've assembled different committees and we have an amazing fundraising committee who is rocking it. As a board, we largely handle fundraising and logistics to keep events mostly free and subsidized to take the burden off moms so they feel supported and taken care of through our offerings. What advice do you have for other parents who want to create something for their own community? It only takes a few people to commit to setting a time and place and showing up. Month after month, more and more people will show up and it can grow naturally. Set up a Facebook group, communicate dates and times and people will come. How has your self-care shifted through your pivot? Self care looks different and there's no time for bubble baths or massages right now. Colorado Mama Tribe has been a huge part of my self-care, forcing me to get out of the house, take time for myself away from my family and meet up with friends. I spend time out and about to reset, commiserate and celebrate. Additionally, it makes me feel better connected to my daughters because I'm allowing myself balance. LINKS & RESOURCES MENTIONED Colorado Mama Tribe on Facebook https://www.facebook.com/groups/coloradomamatribe Lightning and Love https://www.lightningandlove.org/ ONCE UPON A GENE - Episode 074 - Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation https://effieparks.com/podcast/episode-074-lightning-and-love-foundation 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/

A collection of voicemails from rare disease parents who relate to you situation.

ONCE UPON A GENE - EPISODE 235 Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges, strengths and about his journey of resilience.  EPISODE HIGHLIGHTS What has your diagnostic journey been like? The first few years were difficult. In 2015, I began a transition from working at a gym, running marathons and burning the candle at both ends. I developed sensitivity to food, I was fatigued and had an ongoing migraine. I went to an urgent care facility for what I thought was just a headache, but the doctor took a lot of time trying to uncover details about my health. After a routine exam, he referred me to a specialist, who referred me to a sub-specialist. Testing revealed that I had NMOSD, but despite the diagnosis, I received the good news that I would live a healthy, happy life.  How did you connect with others in the NMOSD community? I was initially connected through a clinical researcher who informed me of an upcoming patient community day. I went to the patient community day and met other patients who really inspired me. I was fortunate to connect with this community such a short time after receiving my diagnosis. Do you have any advice for someone who's newly diagnosed? It takes time to feel like you understand everything and have a handle on it. It's helpful to be involved with advocacy groups as early on as possible to learn. Give yourself the grace and permission to cry, to suck, to experience negative emotions— not because they're bad, but because they're human emotions. It's up to you to choose what you're going to do everyday, to choose what you put out in the universe, how you treat yourself and how you treat others.  LINKS AND RESOURCES MENTIONED Permission to Feel: Unlocking the Power of Emotions to Help Our Kids, Ourselves, and Our Society Thrive https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847 Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490/ Rare Connections in NMOSD, Alexion Pharmaceuticals, Inc. https://www.youtube.com/watch?v=cfnE7cxfY3s ONCE UPON A GENE - EPISODE 234 - Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd https://effieparks.com/podcast/episode-234-finding-glimmers-for-a-happier-healthier-life-with-katie-lloyd 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 162 Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca Pirozzi Gianluca Pirozzi is a dadvocate and Senior Vice President, Head of Development and Safety at Alexion, AstraZeneca. His daughter has Smith Magenis syndrome.  EPISODE HIGHLIGHTS What is your connection to rare disease and how does it connect with your work? My childhood best friend was diagnosed with a rare disease called Fanconi Anemia and he died at the age of 19. I saw the world through his eyes and I learned so much about life because of him. He is also the reason I studied medicine. Years later, my daughter was diagnosed with a rare disease called Smith Magenis. At the time I was in drug development and I changed my career to focus more on rare diseases. What role do caregivers play in the rare disease patient journey and is their advocacy essential? The caregiver plays a major role- they're the depository of knowledge and understanding of the disease. The caregiver best understands the impact of the disease on a patient's day-to-day life. Advocating through fundraising, organizing family conferences and participating in registries is important.  How has your perspective of pharma changed since becoming a rare dad? Being in the pharma business, I know how expensive it is to run clinical studies and clinical research. As a caregiver, I defend access for as many patients as possible, but I also know that without a return of investment, there would be no research that leads to advancement or development of rare disease medicine. What aspects of being a rare dad are you grateful for? I'm grateful for being reminded everyday of what is truly important in life. When I see the struggles my daughter has with simple things, she also has gratitude and happiness when she succeeds with simple things. What does it take to prepare for a family trip? We have to think steps in advance, thinking about what time we will travel so we are planning around my daughter's best time of day. We talk to the doctor about medicine to help her relax and sleep. We bring her special bed and medical stroller and call the airline ahead of time to accommodate. It's a complicated process and we plan for challenges the best we can, bearing in mind that we will also have beautiful memories and everyone will have a good time. 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

ONCE UPON A GENE - EPISODE 161 A Rare Collection - Beep Beep Beep There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Brittany Stineman Emergency vehicles headed towards us and the sound of the vehicles coming to save my child's life played on repeat. The tears were different this time. They were tears of joy, gratitude and hope. Nash was born with an ultra-rare genetic condition called SMARD1. He was 11 months old when he was diagnosed, with a life expectancy of only 13 months and there were no treatments. No option was not an option. We started a non-profit called SmashSMARD and we focused on developing a treatment for SMARD1. We celebrated Nash's third birthday in a major way. The same emergency responders who have saved his life on multiple occasions joined the birthday parade celebrating a milestone we never imagined we'd reach.  Matt Hay In elementary school, the nurse conducted hearing tests in class. Each student took a turn wearing the headphones while the nurse turned several knobs, and each would raise a hand a dozen or so times to acknowledge they heard the beeps. When it was my turn, she only played a few beeps, or so I thought. Later in high school, I applied to the United States Military Academy. During the physical, the doctor played the familiar tones, scribbled some notes in my file and said the Army would be sending me a letter to explain what I needed to know. When the letter arrived, I learned that I failed my physical due to substandard auditory acuity and I wasn't qualified to serve in the Army. A few years into college, I could no longer hear well enough to use the phone. When I saw an audiologist, I was referred to a neurologist and MRI results revealed I had bilateral acoustic neuromas on my hearing nerves. I was diagnosed with Neurofibromatosis type 2 (NF2), a rare neurological disorder.  Erin Reoyo Beep, beep, beep sounds the familiar driver of the garbage truck right outside my son's room. She looks for him in the window, but he's not there to wave and cheer as she picks up the bins. I know how much my son adores the garbage truck driver and it's clear she adores him too. She doesn't know he lives with a rare, catastrophic epilepsy called Dravet Syndrome. I've never shared my son's story with the driver. Perhaps I want to spare her the worry and grief that comes with caring for someone with Dravet Syndrome.  Amanda Griffith Atkins When you were three years old, your backpack was bigger than you as you went up the steep stairs of the big yellow bus, off to your first day at preschool. Your school was equipped to care for kids with disabilities and you were safe with teachers that understood your disability. There was a lot to celebrate, but I lost something that day realizing our safe and quiet days at home were over. I waited eagerly at the end of the school day, listening for the beep-beep of the bus, and I ran out to take you into my arms. Can you believe it was ten years ago when you first stepped onto the bus? A lot has changed since then and you're nearly as tall as me now. Although your disability will never allow you to live on your own, the bus represents freedom and independence, taking you to your own world of friends, teachers and staff who love and celebrate you. 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 160 A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson Stormy Johnson has a son diagnosed with hemophilia. She was told she was just a carrier for the disorder. This assumption, born from the fact that mostly men are diagnosed with hemophilia, meant she didn't have answers for symptoms that were plaguing her. Other hemophilia patients encouraged her to dig deeper, which led to an even tougher road of being seen by medical professionals. Stormy is storming the castle to let everyone know that women are in fact more than carriers- she's an advocate doing great work for women with bleeding disorders.  EPISODE HIGHLIGHTS Can you share your son's diagnosis journey? When I was young, I was aware of my male cousins with something wrong with their blood, but that's all I knew. When my son was three, he had his tonsils removed and he had complications in recovery that led to emergency surgery. Initially doctors thought maybe he had a bleeding disorder, but he was released after a few days. A couple months later, he had blood in his urine that I attributed to a kidney blockage he had recently had. At a pediatrician's appointment, she recalled a patient with a bleeding disorder and she thought it was a good idea to check into things further. After my son was diagnosed, I realized what my cousins had was also hemophilia and that it affected others in my family as well- male and female. How did you find out you also had Hemophilia B?  When I would lose molars as a kid, I would bleed a lot. I also bruised easily. I had a laparoscopy when I was 18, which required a blood transfusion. There were always signs, but it was never questioned. After my son was diagnosed, I had testing done and took the results to the treatment center my son went to and I was referred. I was 47 when I got diagnosed.  What has motivated you to become an advocate? I found my voice at just the right time. I was terrified of speaking or talking to doctors, but I've learned so much through my experiences. Advocating is from my heart and it's not about me. Everything I do is for the community and it's been an amazing journey for me and my family.  What is your advice for women or even girls who may be listening and need tips for advocating for themselves and their healthcare concerns? It's very important to keep good notes and record everything. Speak to parents, siblings and family members who can shed light on childhood health matters or other family health history. Most importantly, don't give up. Fire your doctor and find another doctor. There's always someone out there who will fight with you, you just have to find them. LINKS & RESOURCES MENTIONED Portraits of Progress https://www.portraitsofprogress.com/ Bad Blood https://www.imdb.com/title/tt1773294/ BloodStream Media https://www.bloodstreammedia.com/ Remember the Girls https://rememberthegirls.org/ Sisterhood for Women Who Bleed on Facebook Group https://m.facebook.com/groups/235001807617544 Sisterhood for Women Who Bleed on Instagram https://www.instagram.com/vwd_hemo_sisterhood/ 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

ONCE UPON A GENE - EPISODE 159 Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins Spencer Bishins has a Master's degree in economics and a law degree, but after working for SSA for more than 10 years, he shifted his expertise to demystifying the complicated disability system. His first book, Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It, explores the obstacles disability claimants face as they navigate the benefits system.  EPISODE HIGHLIGHTS Can you tell us about your career and what motivated you to write your book? After law school, I accepted a job with the Social Security Administration. The SSA system sometimes feels like a computer is deciding a person's case. That's partly because the rules can be very strict and partly because they're monitoring how many cases are being paid to over a million people that file for social security disability benefits every year. Feeling like a claimant is a statistic, moving through an in-personal process where their story is lost can be frustrating. The purpose of the book is to help people understand the process better and know how to deal with situations that may arise during the process.  What is the difference between SSI and SSDI? There are two social security disability programs. Social security tax paid through payroll funds the retirement program, but it also funds the SSDI program. SSDI is only for adults, but adults can also apply for the SSI program if they don't qualify for SSDI benefits. SSI payout is a lot lower payout and a lot stricter. Kids can also receive SSI based on the standard of impairment and functioning, as referenced in the ruling SSR 09-2P to SSR 09-8P. If a child has been approved for SSI, as they approach adulthood, you'll be notified that the child will undergo an evaluation to determine if they're able to work and they may lose their benefits. If a parent has worked and earned SSDI benefits, their adult child can file a claim on their parent's earning record through a program called Disabled Adult Child (DAC) claim. The wage-earner has to be deceased, retired or disabled and in some way a social security recipient themselves.  For parents who care for their children full time and can no longer work, how can they benefit from social security disability? If you've worked long enough to earn social security credits, you may have SSDI coverage. Filing a disability claim if you've paid into the system is called an entitlement and you're entitled to receive benefits if you qualify. You can talk to a social security representative if you're considering filing a claim for yourself as a parent. If you're approved for SSDI, you can also get access to Medicare. CONNECT WITH SPENCER Facebook https://www.facebook.com/BishinsPublishing/ Instagram https://www.instagram.com/bishinspublishing/ Twitter https://twitter.com/bishinspub LINKS & RESOURCES MENTIONED Determining Childhood Disability – Documenting a Child's Impairment-Related Limitations https://www.ssa.gov/OP_Home/rulings/ssi/02/SSR2009-02-ssi-02.html Bishins Publishing https://www.bishinspublishing.com/ Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It https://www.amazon.com/Social-Security.../dp/B0B5PQ6ZYD 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

Intro music by Scott Holmes