ANNOUNCEMENTS Don't forget to register for the NORD 2020 Living Rare, Living Stronger Patient and Family Forum streaming July 18th-19th. I'll be on the parent panel on the 19th talking about stress reduction and caregiver well being. Register here. Head over to podcastawards.com and nominate Once Upon a Gene for The People's Choice Award under the Society-Culture category. Disorder: The Rare Disease Film Festival was supposed to be held in May and was cancelled due to COVID. These films are impo...
Jul 09, 2020•37 min•Ep. 38
Founder of LakiKid: Sensory Tools for Home and Classroom with Jason Hsieh NORD, the National Organization for Rare Diseases invited me to be a speaker at the 2020 Living Rare, Living Stronger Patient and Family Forum on a breakout panel for caregivers. I'm going to be talking about stress reduction and emotional well being as a caregiver and I'd love for you to join virtually July 18th-19th, 2020. Today I'm talking to Jason Hsieh, a local father whose son was diagnosed with autism and ADHD. Ther...
Jul 02, 2020•29 min•Ep. 37
Anna Laurent on Alagille Syndrome and Her Road to Advocacy My guest today has a rare genetic disorder called Alagille Syndrome, which she was diagnosed with at 6 months old with no prognosis. Anna Laurent is a vivacious 20 year old living her best life. She's the Head of Programs & Initiatives at Our Odyssey where she helps to empower young adults impacted by chronic and rare diseases. If you know a young person with a chronic or rare disease, tell them to check out Our Odyssey. EPISODE HIGH...
Jun 25, 2020•39 min•Ep. 36
Sage Graves - Estate Planning, Guardianship, Special Needs Trusts Today we're talking about a really important topic- planning for our kid's future. Sage Graves is an attorney local to the Seattle area, here to share information about wills, estate planning, special needs trusts, guardianship and ABLE accounts. EPISODE HIGHLIGHTS Share your background and why you've chosen this type of law to practice. Let's cover the basics. What do we need to do? What do we need to think about? When should we ...
Jun 18, 2020•39 min•Ep. 35
The Ladies Behind the Edits I want my audience to know Erica and Devona, such a big part of my show. They make everything sound beautiful, put it all together and I'm grateful to have stumbled across them. EPISODE HIGHLIGHTS What is it like to hear and to edit someone's conversations in their raw form? I posted in a Facebook group about wanting an editor connected to the rare disease or disability community and Erica shared with me about Cam. Can you share a little bit about him? Have you though...
Jun 11, 2020•35 min•Ep. 34
ONCE UPON A GENE - EPISODE 033 Loving Large: A Mother's Rare Disease Memoir With Patti Hall This episode is about the larger-than-life love that a mother has for her son. Patti Hall is the author of the book, Loving Large: A Mother's Rare Disease Memoir. In reading her book, I learned a lot about the rare disease called gigantism. I’m so grateful when people share their stories about the rare disease life because it’s so important in so many ways and you never know who will be touched by it. EPI...
Jun 08, 2020•41 min•Ep. 33
As many of you know, I’ve been blessed to get to know Daniel DeFabio over the past few months. Earlier this year, he spoke on the podcast about his amazing little boy, Lucas. It is with the heaviest of hearts that I share the news of the passing of sweet Lucas. I and so many others are deeply sorry and heartbroken for the loss of this amazing little boy. Lucas was born with a rare and fatal disease called Menkes. After he was diagnosed the doctors said he would have 3-10 years to live. On Friday...
Jun 07, 2020•5 min
ONCE UPON A GENE - EPISODE 032 Beyond Quarantine: Acceptance, Empathy and a Better Normal Dan DeFabio, Co-Founder of Disorder: The Rare Disease Film Festival is joining me again. He recently wrote a blog post about the connection the masses now have to the rare disease community surrounding the quarantine. A lot of families have dealt with these aspects of sheltering in and it hasn't been as unfamiliar as it's been for others. In this episode, I'm chatting with Dan about how the Covid-19 quarant...
May 28, 2020•35 min•Ep. 32
ONCE UPON A GENE - EPISODE 031 Quarantine - What We're Missing, What We're Not, and What We Hope Sticks Around Synthiea and Effie are talking about what they miss, what they don't miss and what they hope sticks around post-covid pandemic. EPISODE HIGHLIGHTS What we miss during quarantine. What we don't miss. Effie doesn't miss how hard it used to be to get on friends' calendars when you wanted to hang out. Now you can find more time to connect through facetime. They don't miss traffic. And they ...
May 21, 2020•31 min•Ep. 31
ONCE UPON A GENE - EPISODE 030 Trust Your Instincts; An Early Intervention Can Save Your Life Anjela Yumel lived through a natural disaster, relocated to the US from the Philippines, was without her mother for a year, took on the responsibility of caring for her siblings, became a single mom, had a medically complex child Jaela, who was born with Hurler Syndrome. She's amazing and I'm honored to share this story with you. EPISODE HIGHLIGHTS Tell us about yourself and your daughter. How did you g...
May 14, 2020•38 min•Ep. 30
ONCE UPON A GENE - EPISODE 029 Put On Your Own Oxygen Mask First My sister, Christy Foster is a CranioSacral therapist, pioneering educator, speaker and mentor in the field of body-mind integration. She specializes in teaching health and wellness practitioners on how to interpret the subconscious language of the body. Her mission is to empower and create self-awareness. Christy is joining me for a sister chat on ways to take care of ourselves and pay attention to the ways our bodies tell us to c...
May 07, 2020•30 min•Ep. 29
ONCE UPON A GENE - EPISODE 028 Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival Bo Bigelow is the co-founder of Disorder: The Rare Disease Film Festival. He's joining today to talk about life in quarantine and his beautiful daughter Tess, who inspired him to produce a podcast, Stronger Everyday. LINKS AND RESOURCES MENTIONED Disorder: The Rare Disease Film Festival https://www.rarediseasefilmfestival.com/ Episode 15: Films and Fatherhood with Daniel DeFabio ht...
Apr 30, 2020•36 min•Ep. 28
ONCE UPON A GENE - EPISODE 027 Therapy Check-in with Rose Reif My next guest, Rose Reif, is a very special therapist with over 20 years of experience helping people with disabilities and their families. Imagine talking to a therapist who knows your language and the jargon you use- it's comforting to know someone like her exists. She has so much understanding and her approach to mental health for our world is gentle and insightful. EPISODE HIGHLIGHTS Tell me about what you do and why you do it. W...
Apr 23, 2020•38 min•Ep. 27
ONCE UPON A GENE - EPISODE 026 How Our Rare Kids Can Shape Us Molly D'Angelo is sharing her adorable son's story with us who has a rare genetic disorder of obesity. People can be very judgmental and cruel. Rare parents watch their kids struggle so much and we have fear about their futures on a regular basis. We grow a thick skin, but even we are not immune to the ignorance and unkindness we can receive. Stories like Josh's help spread awareness and educate us all to have more compassion and unde...
Apr 16, 2020•34 min•Ep. 26
ONCE UPON A GENE - EPISODE 025 A Grandfather's Story of Guardianship, Caregiving and Advocacy Parents and caregivers often hear, "I don't know how you do it". We do it because we have no choice and we do it well because we do have a choice. We do it because we're human beings who love each other. This is a touching story of hope, kindness and giving back. Jeremy Kredlo is sharing his story of becoming the legal guardian of his granddaughter, Kylee. EPISODE HIGHLIGHTS Tell everyone who you are an...
Apr 09, 2020•42 min•Ep. 25
ONCE UPON A GENE - EPISODE 024 CHOOSING HOPE Jill Hawkins is a parent advocate and mom to three children, two of which share the same variant on the FAM177A1 gene. This undiagnosed disease is believed to be the cause of our kiddo's disabilities and her family is on a mission to find others and get more answers. Like many of the parents in this rare world, Jill has found whatever free sliver of time in her days or nights to search for others with the same genetic variant or someone studying it. P...
Apr 02, 2020•34 min•Ep. 24
ONCE UPON A GENE - EPISODE 023 Mental Health and Coping During Covid-19 I hope you're all as safe and healthy as you can be right now. Dr. Laura Black is a Childhood Adolescent Psychiatry Fellow and she's providing tips to us on talking to your kids about COVID-19 and managing your heightened stress and anxiety. She also leads us through a mindfulness exercise, so be sure to take a few minutes for yourself at the end of this episode and share it with a friend or family member who can benefit. EP...
Mar 26, 2020•38 min•Ep. 23
ONCE UPON A GENE - EPISODE 022 School Closures and FAPE After the schools closed, I saw an uproar on social media, reading a lot of incorrect information, worry and confusion. This episode is geared to helping form realistic ideas about why distance learning isn't for all students and find acceptance of this topic. This is a huge hit to everyone, but joining me to help us all take a deep breath on the matter is Jen Cole. EPISODE HIGHLIGHTS Tell us about your position at Pave. I'm the Director of...
Mar 19, 2020•28 min•Ep. 22
ONCE UPON A GENE - EPISODE 021 Healthier Healthcare for All Christie Olson is interviewing me and we’re firing up a conversation about the healthcare challenges along my journey with Ford in hopes that it shines a light on some of these issues that parents face regularly. Let’s talk about how we know each other and how we met. At our mutual favorite place, Kindering,our local birth to three center, there’s a program for kids around 16 months old where you can bring them out of the home setting a...
Mar 12, 2020•41 min•Ep. 21
ONCE UPON A GENE - EPISODE 020 Morgan’s Wonderland Morgan's Wonderland in San Antonio, Texas is one of the most magical places on Earth. It's a shrine of inclusion. They're changing the game in what accessibility and inclusion mean with a theme park designed with disabilities at its core. From young to old, with or without a disability, Morgan's Wonderland is a place to encourage everyone to gain a greater understanding of each other. Nikki and Brooke join me on this episode to talk about Morgan...
Mar 05, 2020•27 min•Ep. 20
ONCE UPON A GENE - EPISODE 019 Neena Nizar and the Jansen's Foundation My guest today was misdiagnosed for decades and now she shares a diagnosis with her two young boys. They were all born with an extremely rare disease called Jansen's Metaphyseal Chondrodysplasia. With this disease, the body loses its ability to form bone properly and numerous surgeries are often required to correct the bones. Neena Nizar moved her family from Dubai to America to get the help they needed for this disease. She ...
Feb 27, 2020•38 min•Ep. 19
ONCE UPON A GENE - EPISODE 018 Distressed Genes Aren't Just a Fashion Statement Self care is more than a buzzword or a good intention. Synthiea and I are discussing how we create space for self care, mental and physical health and how doing small things can make a big impact. EPISODE HIGHLIGHTS Here are some things you can do to manage stress, take care of yourselves and find some calm in the tornado that is parenthood with a child with special healthcare needs. Sign up for a meal delivery subsc...
Feb 20, 2020•42 min•Ep. 18
ONCE UPON A GENE - EPISODE 017 The Value of Genetic Counselors Podcasts have played a huge part in finding community and they’ve served as a way of educating myself. I loved Eleanor Griffith's mission in her podcast, Patient Stories. After being a guest on her podcast, I emailed her a few months later and asked for tips to get my own podcast off the ground. She was so gracious with all her shared wisdom. In addition to her podcast, Eleanor is a Genetic Counselor and Founder of Grey Genetics. I'v...
Feb 13, 2020•46 min•Ep. 17
ONCE UPON A GENE - EPISODE 016 The Lucky Few I'm super excited to be talking with a super rad dad, Jordan Steele. He married his high school sweetheart and is the father to five year old twins and an almost one year old son who has down syndrome. He's genuine, fun and a lover of life. Jordan is also an emmy winning meteorologist and host on KING 5 Seattle. EPISODE HIGHLIGHTS Tell us about your son Kinlin, who has down syndrome. Kinlin is 11 months. We had a great pregnancy, he was healthy and we...
Feb 06, 2020•26 min•Ep. 16
ONCE UPON A GENE - EPISODE 015 Films and Fatherhood Daniel DeFabio is joining us today to share his experience and perspective as a father of a son with a rare disease called Menkes. Daniel is a contributing author to The Mighty and the Co-Founder of the Rare Disease Film Festival. EPISODE HIGHLIGHTS Tell us about your son Lucas. The good news is that he has just turned eleven years old. He was diagnosed with Menkes at age one and we've been dealing with this rare disease journey for ten years. ...
Jan 30, 2020•39 min•Ep. 15
ONCE UPON A GENE - EPISODE 014 A Fellow CTNNB1 Mama Tara Bryant is a special warrior mom who has a young son with CTNNB1 and she's sharing her heartfelt story with us. I connect with her as a mom, going through the same things with CTNNB1, we're both hair stylists and I love the real stuff she shares- stuff we're all living through and not necessarily talking about all the time. LINKS AND RESOURCES MENTIONED Parent’s Facebook Group Proloquo2Go TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple...
Jan 23, 2020•24 min•Ep. 14
ONCE UPON A GENE - EPISODE 013 Sibling Support On the topic of siblings again this week, we'll be talking about the sibling perspective and the support available with Emily Holl, the Director of the Sibling Support Project. Emily is a social worker, writer, trainer, and sibling. Over the past 16 years, she has provided workshops, training, and groups for siblings, families, and individuals with disabilities. She has presented and written extensively on sibling issues, has conducted and published...
Jan 16, 2020•35 min•Ep. 13
ONCE UPON A GENE - EPISODE 012 My Favorite Pair of Genes As my daughter Esme's first birthday is approaching, it's bringing up a lot of feelings. This is an episode of deep thoughts with Effie. EPISODE HIGHLIGHTS I've wanted to be a mother my entire life. I was blessed with an exceptionally nourishing mom and I had 12 siblings. Naturally, I wanted to have a bunch of kids myself and I wanted to give my kids siblings that would be by their side no matter what. When I met the man of my dreams, he s...
Jan 09, 2020•10 min•Ep. 12
ONCE UPON A GENE - EPISODE 011 Rollin' With Spina Bifida Joining me today is Whitney Stohr, a master advocate for her son and others in the community. There's a lot to learn from her family and a lot of good information in our conversation. CONNECT WITH WHITNEY Whitney Stohr on Facebook: https://www.facebook.com/whitney.stohrhendrickson Malichi’s Journey on Instagram: @rollin.w.spinabifida Instagram: #spinabifida #redefiningspinabifida #hydrocephalus LINKS AND RESOURCES MENTIONED Children's Vill...
Jan 02, 2020•41 min•Ep. 11
ONCE UPON A GENE - EPISODE 010 My Pfeiffer Pfamily Synthiea Kaldi was the first person I knew to call when I was told something was wrong with Ford. I admire her so much and would be lost without her humor and understanding. Finding someone like Synthiea, someone who lives with a lot of hard stuff but can also find the humor in it, is a really valuable resource for your mental health and general outlook. It's not easy being a parent, especially when your child has a complex medical need. Synthie...
Dec 26, 2019•33 min•Ep. 10
