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Once Upon A Gene

Once Upon A Gene

True stories of raising rare kiddos

Latest From Series

Effisode – Making Cents of it All

Intro music by Scott Holmes
June 15, 2021

Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig

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/
June 10, 2021

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

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/
June 3, 2021

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

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/
May 27, 2021

Advocates Come in Small Packages – My Life with Blau Syndrome with Keira Howell

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/    
May 20, 2021

Once Upon A Gene

This is a space I created to share the stories of our not so typical lives. Raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating. What I know for sure is that when we can find others who 'get it,' we can find a lot more laughter, a lot more hope and feel a lot less alone.
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Host

Effie Parks

Effie Parks

Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings. After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease.

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