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    Kids & Family

    Once Upon A Gene

    As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time – I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.

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    Latest Episodes:
    Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig Jun 10, 2021
    Show notes

    ONCE UPON A GENE - EPISODE 086

    Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig


    Angela Lindig's daughter had a diagnosis of Atypical Rett for years, but was recently diagnosed with HNRNPH2. Angela runs Idaho Parents Unlimited, which supports, empowers, educates and advocates to enhance the quality of life for Idahoans with disabilities and their families. Amber is also working on a campaign about why diagnosis matters and is working to help families access whole exome sequencing (WES) tests.


    EPISODE HIGHLIGHTS


    Can you tell me about yourself and your family?

    I am the Director of a parent center and my work is in working with children who have disabilities and my own child is what brought me to this work. My daughter Amber is 25 years old and is dealing with an ultra rare genetic condition that was diagnosed when she was 23. I knew something wasn't right when Amber was 4 months old. It was at a class reunion we attended where everyone had babies that I was able to observe. Amber was floppy and had low muscle tone and she wasn't doing things I noticed the other babies doing. We talked to the pediatrician about the delays we saw and at 5 months old, she had an MRI done that didn't reveal anything and we started early intervention services. The testing continued for many years looking for what Amber's condition could be.


    If Amber didn't get her diagnosis, what would be different in her health journey?

    Her diagnosis is HNRNPH2 disorder, a mutation on that gene on the x chromosome and there are only about 100 identified families affected. We're all learning together and we've identified a lot of characteristics in Amber, like a conical vision impairment and self-injurious behaviors. The collective knowledge will lead to treatments of symptoms and the whole condition.


    Was there grief in getting a new diagnosis?

    I had no grief with the new diagnosis. I burst into tears when we got the diagnosis because it was such incredible relief to finally know and have the opportunity to connect with other people.


    Can you share about Amber's adult independent living arrangement?

    I have a friend who has a daughter that's two years younger than Amber and has angelman syndrome. We talked and then brought our daughters into the conversation and they wanted to live together. We rented a town home to ensure they would be compatible roommates and we arranged a supportive living agency to provide staff. After 9 months when we realized the arrangement was working well, we bought a home the girls live in and we stay very connected every day. Amber is thriving and the support staff keeps her as involved in the community as possible. There may even be opportunities for supportive employment in the future, dependent on her continued developmental growth.


    LINKS & RESOURCES MENTIONED

    Online Mendelian Inheritance in Man

    https://www.omim.org/

    Idaho Parents Unlimited

    https://ipulidaho.org/

    The Yellow Brick Road Project

    https://yellowbrickroadproject.org/

    Writing Wizard

    https://lescapadou.com/wp/en/writing-wizard-app/


    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/


    Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles Steward Jun 03, 2021
    Show notes

    ONCE UPON A GENE - EPISODE 085

    Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles Steward


    Charles Steward was one of the first scientists to work on the human genome project, led the original research analysis for human chromosome 10 and has established international collaborations on various projects. He's currently the Patient Advocacy and Engagement Lead for Congenica. He's a brilliant scientist and a super DadVocate to two children with rare diseases and medical complexities.


    EPISODE HIGHLIGHTS

    Can you tell us about your background and experience with rare disease?

    In 2013, my wife and I had a baby girl and she was in intensive care for a month as a result of being born prematurely. My daughter was about 8 months old when we noticed she wasn't doing things she had been doing- taking interest in things and her surroundings, laughing or smiling. She started making movements, her eyes rolled and her head would shoot to one side. She was diagnosed with West Syndrome, a serious type of epilepsy that can be fatal. My son was born at 28 weeks and suffered catastrophic brain damage during birth. Being a genome scientist and the father of two children with severe neurological disorders I've thrown myself into the world of advocacy and have a specific interest in cerebral palsy and epilepsy.

    As a scientist and then a rare disease dad, what did you notice from the patient perspective?

    One of the most amazing things was being in contact with clinicians because they genuinely care for patients. Some of the clinicians that worked with our family, I also worked with professionally through Congenica. I also spoke a lot with scientists and I noticed that there was little exposure to the patient voice. When I spoke to them about it, they were struck by the importance of what they were doing. If patients can get in front of scientists, it makes a difference in the work they do.

    How do you balance your career, advocacy work and being a dad to two kids with severe healthcare needs?

    My children are healthy in that their seizures are controlled. My wife cares full time for the children and she spends the day talking to therapists, talking to physicians, arranging appointments and coordinating equipment maintenance. It's sometimes difficult to separate my career and advocacy work because I'm always connecting and speaking with people and sharing ideas and my passion is more than a career.

    What advice do you have for other dads?

    People deal with things and cope in very different ways. What's important for me is to be supportive of my wife who does the heavy lifting. I think it's a dad thing to do throwing myself into my work. It's difficult, but important that as dads, we share the burden.


    LINKS & RESOURCES MENTIONED

    Rare Disease Fair

    http://rarediseasefair.com/

    Congenica

    https://www.congenica.com/

    International Cerebral Palsy Genome Consortium

    https://icpgc.org/


    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/



    Effisode - Putting the Play in Playground with DadVocate - Casey Parks Jun 01, 2021
    Show notes

    Intro Music by Scott Holmes


    Relief and Inspiration for Mothers of Children with Rare Diseases with Angel Aid Cares Founder - Cristol O'Loughlin May 27, 2021
    Show notes

    ONCE UPON A GENE - EPISODE 084

    Relief and Inspiration for Mothers of Children with Rare Diseases with Angel Aid Cares Founder - Cristol O’Loughlin


    Angel Aid Cares works to provide connection, relief and support to caregivers. The founder, Cristol O'Loughlin is sharing her story that begins with her role as a rare sibling and unfolds with heartbreak, passion, grit and grace.


    EPISODE HIGHLIGHTS


    Tell me about your childhood and how you're connected with rare disease.

    I am the youngest of five children. I have 4 older brothers and my oldest brother is still living. Three of my four brothers were born with Mucopolysaccharidosis (MPS) disease, also known as Hunter syndrome. My brothers were very sick and passed away at 12, 18 and 19 years old.


    Tell us about Angel Aid Cares.

    In my mid twenties, I started thinking about having a family and the questions around fertility and being a carrier of a rare and deadly disease. I started looking into genetic testing and what I learned about MPS was impactful enough that I wanted to do something about it. I met other families and children at a conference and came back with a lot of passion in my heart. I connected with my sorority sisters and we decided to fund raise with the National MPS Society. We threw parties and pulled together money, it was matched by the National MPS Society and we launched and released our first research grant. That grant went to a researcher named Dr. Emil Kakkis, the CEO of Ultragenyx. He had the novel idea to take a missing enzyme and create a synthetic version to flush through the body. That research went on to clinical trial and eventually standard of care treatment for young patients of Hunter syndrome. Young men who used to pass away in their teens like my brothers are now on active treatment. What's missing from the rare disease community is the mental health and wellness resources that Angel Aid Cares is focusing on. We launched as a 501c3 and we focus exclusively on mental health and wellness services for mothers and all caregivers in the rare disease space.


    What do you want listeners to take away from this episode?

    Sustainable self care comes from small little things you do to remind yourself that you are you. Separate from the person you're caring for, you deserve the love, empathy and care you give to others. If you need help, text SIGNS to 741741 and access the 24/7 Crisis Text Line.


    CONNECT WITH ANGEL AID CARES

    Angel Aid Cares Website

    https://www.angelaidcares.org/

    Angel Aid Cares on Instagram

    https://www.instagram.com/angelaidcares/

    Angel Aid Cares on Facebook

    https://www.facebook.com/angelaidcares

    Angel Aid Cares Resources

    https://www.angelaidcares.org/partners

    Angel Aid Cares Events

    https://www.angelaidcares.org/events


    LINKS & RESOURCES MENTIONED

    Bloodstream Media - Once Upon a Gene

    https://www.bloodstreammedia.com/shows/once-upon-a-gene

    Caring for the Caregivers TEDx Talk

    https://www.angelaidcares.org/tedx

    National MPS Society

    https://mpssociety.org/

    Ultragenyx

    www.ultragenyx.com


    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/


    Advocates Come in Small Packages - My Life with Blau Syndrome with Keira Howell May 20, 2021
    Show notes

    ONCE UPON A GENE - EPISODE 083

    Advocates Come in Small Packages - My Life With Blau Syndrome With Keira Howell


    Keira Howell is a twelve year old living with Blau Syndrome joining me to share her story of living with a chronic disease.


    EPISODE HIGHLIGHTS


    Tell me about yourself.

    I'm twelve years old and I have Blau Syndrome. I love to act, sing and do anything related to musical theater.


    Why would you like to tell your story?

    I've done presentations at school, but want to expand the people who know my story through the podcast because it's a rare disease and I want to spread awareness.


    What is Blau Syndrome and what are the symptoms?

    The symptoms that affect me are arthritis, uveitis, rashes and swelling. Blau Syndrome is a whole body inflammatory disease and it can impact major organs like the kidneys, heart and liver and can be life-threatening. Someone with Blau Syndrome can be fine one day and have a flare up the next, so the disease can cause life-threatening problems very quickly.


    What's it like as a young person living with Blau Syndrome?

    If I'm going on a walk with friends or family, I tend to get sore. Riding a bike and gripping the handle bars, my fingers get very sore. When I play tennis, I have to wear wrist tape. Physical activities are what most affects me. Otherwise, it doesn't affect me physically. No one can tell I'm sick by looking at me.


    How does your disease affect you at school?

    Before the pandemic, I was leaving school early more than once a week for stomach problems or being sore. I sat out of PE class often.


    What strategies help you stay positive?

    Whenever I go to an infusion, instead of focusing on the negative, I find a positive-- I love my nurses, they give me candy, there's a vending machine with great snacks, my mom and I go to lunch after and we go get a treat. I always know there's a plus side to infusions or hospital trips.


    What have you done with the Cure Blau Syndrome Foundation?

    We had an auction a couple months ago to raise money for more testing and find a cure. I hosted a segment of Ask A Researcher which has interviews with doctors or researchers on community questions. It's exciting to be part of the foundation and I've met a lot of fantastic people.


    What do you hope to do with your life as an adult?

    I hope I'm cured, spreading awareness, have a good education, a podcast, am an actress and just living life and traveling!


    LINKS & RESOURCES MENTIONED

    Cure Blau Syndrome Foundation

    https://www.curebs.com/

    Ask A Researcher on Instagram

    https://www.instagram.com/p/B7wloz4lUMA/

    Donate to Cure Blau Syndrome Foundation

    https://www.curebs.com/donate-1

    Seattle Rare Disease Fair Virtual Conference (2021)

    http://rarediseasefair.com/?p=164


    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/



    Effisode - Unexpected Moments in the Stairwell May 18, 2021
    Show notes

    Intro music by Scott Holmes


    Rare Disease - The Ultimate Special Teams with Uplifting Athletes with Rob Long May 13, 2021
    Show notes

    ONCE UPON A GENE - EPISODE 082

    Rare Disease - The Ultimate Special Teams with Uplifting Athletes with Rob Long


    Rob Long is the Executive Director at Uplifting Athletes and is a rare brain cancer survivor. His passion and drive for Uplifting Athletes makes him an inspirational hero and he fights relentlessly everyday so others don't have to face challenges in isolation.


    EPISODE HIGHLIGHTS


    Can you share your story about discovering a rare illness in college?

    In my senior year at Syracuse University, I was focused on the NFL city I was going to end up in and I was one of the best football players in the country in the draft that year. Through my senior year, I wasn't feeling like myself. I had sensitivity to light, I was ill in the mornings and had headaches almost every day. I disregarded the symptoms until one morning I woke up really sick and saw a doctor. I got an MRI which revealed a large growth in my brain. I saw a specialist the next day and a few hours later was on a plane home to see a neurosurgeon.


    How did your diagnosis leave you feeling?

    I had never felt so alone and isolated, but at the same time, I knew my teammates and the football community were there to support me. There was nothing anything could say to provide comfort. I just wanted a doctor to tell me that I was going to be alright, and no doctor was able to tell me that. No matter how supportive my friends, family and teammates were, my time was finite and it was a challenging experience.


    Where did you find support?

    It was a journey. For so long, I tried to escape my reality through football. Despite my diagnosis and treatment protocol, I maintained the idea that I wanted to play football in the NFL and I wasn't going to let cancer determine when I was done playing or living my life. That attitude kept me going and I kept training and kept working out to stay healthy. I wanted to find a way to cure cancer through making it to the NFL and raising a lot of money. It wasn't until later that I discovered I was suffering from PTSD and mental health issues that stemmed from my diagnosis. When I connected with a mental health professional, I found ways to talk through what I experienced and get the help I needed and change my life for the better.


    What is Uplifting Athletes?

    Uplifting Athletes is a nonprofit organization and we work to serve the rare disease community to inspire hope through the power of sport. We developed a program to uniquely impact rare disease research through the Young Investigator Draft program. We draft, support, celebrate and fund the top rare disease researchers across the country to honor the work they're doing and fund rare disease research. Patient advocacy organizations nominate rare disease researchers to be recognized by Uplifting Athletes for the Young Investigator Draft.



    LINKS & RESOURCES MENTIONED

    Uplifting Athletes

    https://www.upliftingathletes.org/

    Young Investigator Draft

    https://www.upliftingathletes.org/young-investigator-draft

    Seattle Rare Disease Fair Virtual Conference (2021)

    http://rarediseasefair.com/?p=164


    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/


    Rare Disease Adoption with Josh and Monica Poynter May 06, 2021
    Show notes

    ONCE UPON A GENE - EPISODE 081

    Rare Disease Adoption with Josh and Monica Poynter

    Josh and Monica Poynter have a son named Tag with severe Hemophilia Type A, a rare genetic disease which makes him vulnerable to prolonged bleeding. Despite this, these rare parents knew they wanted to grow their family. They were unable to have another biological child and welcomed their adopted son Trey into their family. Trey shares the same genetic disease as Tag. He was abandoned at 2 years old and spent 7 years living in an orphanage in China. Trey is now in his forever home with his forever family and Josh and Monica share their heartwarming family and adoption journey story with us.


    EPISODE HIGHLIGHTS

    What type of Hemophilia do Tag and Trey have and how are they affected by it?

    They both have Hemophilia Type A and are missing the factor VIII clotting protein. If they're not receiving medication to prevent bleeding, they bleed easily and bleed longer. Without a preventative regiment, bleeding can be life threatening.

    What empowered you to adopt another child with the same rare disease?

    Once Tag started a preventative regiment and wasn't bleeding, it became routine and we became more comfortable. At this point, I think it would be more difficult to have a child without Hemophilia.

    What obstacles did you face with adoption?

    We knew our family wasn't done growing. When we started the adoption process, we found Trey, read his story and saw a video of him trying to walk with an active bleed in his knee. He had the biggest smile on his face and we were all-in. There was a sense of urgency that we had to hurry. Our family was behind us to support us and help us fund raise, watching Tag while we traveled and interviewed.

    What would you tell other families considering adoption of a rare disease child?

    You can give a child with a rare disease a completely different life and a different perspective on how to live their life. It is life changing for the child, but even more so for you as a parent. It's a challenge, it's work, it's stressful-- but it's worth it in the reward of blessings you experience. We started with no knowledge. If it's something you're considering, take the first step in faith. Help is available and you’ll get through it, but you have to take the first step.


    LINKS & RESOURCES MENTIONED

    Hand in Hand International Adoptions

    https://www.hihiadopt.org/

    Kentucky Hemophilia Foundation

    https://www.kyhemo.org/

    EPISODE 078 - Media with a Mission with Believe Limited CEO Patrick James Lynch

    https://effieparks.com/podcast/episode-078-media-with-a-mission-with-believe-limited-ceo-patrick-james-lynch


    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/


    Effisode - Empathy Puts Some Pep in Your Step May 04, 2021
    Show notes

    Intro music by Scott Holmes


    Rare Disease and Grief - Its Ok That You're Not Ok with Megan Devine Apr 29, 2021
    Show notes

    ONCE UPON A GENE - EPISODE 080

    Rare Disease and Grief - It’s OK That You’re Not OK with Megan Devine

    Megan Devine is the author of It's OK That You're Not OK, a psychotherapist, a grief advocate and communication expert dedicated to helping people face their toughest experiences. This book, her story and explanation of grief changed everything for me. After this episode, be sure to get a copy of the book for yourself, join her community and check out her new illustrated journal, How to Carry What Can't Be Fixed.

    EPISODE HIGHLIGHTS

    Can you share the background on how your book came about?

    I've been a psychotherapist for about 18 years working with trauma, but when my partner died in an accident, my perspective on loss changed. I saw that the way we talk about grief in culture is flawed. When my partner died, I closed my practice. I began speaking about grief publicly, training and writing books to do what I could to help grieving people feel more heard and supported. Today, I'm a psychotherapist, author and grief advocate and I talk about the ways we get grief wrong and what to do better for us and for others.

    What are the biggest misconceptions about grief?

    Grief usually belongs to death, but grief is a spectrum and you get to claim grief for yourself. Just because other people may have it worse doesn't mean you can't grieve. You don't have to demote your grief based on other people having more of a right to be grieving. All grief is valid, but that doesn't mean that all grief is the same. If we can be curious about the different ways we grieve, it's a way for us to come together to talk about it and meet each person's loss and grief with curiosity instead of trying to fit it into a one-size-fits-all package.

    What do you mean by "some things can't be fixed and they must be carried"?

    We live in a problem-solution culture. Not everything has a solution and not everything works out for the best. It's not our job as humans to rise above everything. It's not realistic.

    Tell me about the movement you've created for people to acknowledge their grief.

    When we tell the truth about grief and let people tell their truth about their own experience, they get to just be in pain. If you think about grieving, you often find that you have to defend your grief and experience. That need to defend your experience causes annoyance and suffering because you're expending energy on defending your right to feel how you feel instead of feeling supported. Refuge In Grief is online, on Instagram, Facebook and Twitter. Refuge In Grief is the grievers community. We have to start normalizing grief and talking about what it's really like and what power there is in healthy grief. There's also a Writing Your Grief course that has awesome writing prompts, but mostly a magical community that forms during the live sessions. We open new sessions about every five weeks.

    How can we show up for someone who is grieving and support them?

    Interrupt your impulse to fix. It's human to find it difficult to watch someone you care about in pain and not try to make it better. Recognize your impulse to make it better and think about what you can do that would feel supportive in the moment. Don't assume you know what someone needs, don't jump in with solutions, but instead acknowledge and offer what you can offer and ask if your offering is helpful.


    LINKS & RESOURCES MENTIONED

    It's OK That You're Not OK

    https://www.amazon.com/gp/product/B073XXYKLP/ref=dbs_a_def_rwt_bibl_vppi_i0

    How to Carry What Can't Be Fixed

    https://www.amazon.com/gp/product/1683643704/ref=dbs_a_def_rwt_bibl_vppi_i3

    Writing Your Grief

    https://refugeingrief.com/writing-your-grief/

    Speaking Grief Documentary

    https://speakinggrief.org/

    Refuge in Grief

    https://refugeingrief.com/

    Refuge In Grief on Instagram

    https://www.instagram.com/refugeingrief/

    Refuge In Grief on Facebook

    https://www.facebook.com/refugeingrief

    Refuge In Grief on Twitter

    https://twitter.com/refugeingrief


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