189 episodes

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.

Once Upon A Gene Effie Parks

    • Society & Culture
    • 5.0 • 186 Ratings

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.

    A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa

    A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa

    ONCE UPON A GENE - EPISODE 141
    A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa

    Laura Dellicker is a hardworking mom who adopted a little boy named Salim four years ago. Salim has a rare disease called Epidermolysis Bullosa (EB). Laura shares her story of rare disease adoption and what inspired her decision.

    EPISODE HIGHLIGHTS

    Can you tell us about Salim?
    My son Salim is 7 years old and he has two unrelated genetic conditions. I adopted Salim from India four years ago and I was aware of his primary diagnosis of Epidermolysis Bullosa, which means his skin doesn't adhere to his body. 

    What was your motivation to adopt Salim despite his rare disease?
    I knew I wanted to adopt a child with EB after being involved in the ED world for 10 years prior after my friend's son was born with EB. Moreso, I knew Salim was my son and he just happened to be born on the other side of the world and I just did what I had to do to bring him home. 

    Where have you found support and community?
    There is a wonderful adoptive community and I have a lot of friends who have adopted kids from India. We've managed to even stay in touch with some of Salim's friends from India. I do sometimes feel a little out of place because there's no one in the adoptive community with either of Salim's genetic conditions, and I've not found another parent who has adopted as a single parent in the rare disease community. 

    What wisdom do you have for others considering adopting a child with medical complexities?
    Kids can look terrifying on paper, but they're so worth it. They mostly need love and family. It's worth it in the joy they have in experiencing the world. This isn't an easy road, but it's worth it and will force you to re-evaluate things and not take things for granted.


    LINKS & RESOURCES MENTIONED
    Effisode 050 - Global Genes RARE Disease Patient Advocacy Summit
    https://effieparks.com/podcast/effisode-050-global-genes-rare-disease-patient-advocacy-summit
    Global Genes Patient Advocacy Summit
    https://globalgenes.org/event/rare-patient-advocacy-summit/
    @teamsupersalim on Instagram
    https://www.instagram.com/teamsupersalim/


    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/
    Once Upon a Gene TV
    https://www.thedisordercollection.com/

    • 27 min
    Effisode - Global Genes RARE Disease Patient Advocacy Summit

    Effisode - Global Genes RARE Disease Patient Advocacy Summit

    Intro music by Scott Holmes

    • 5 min
    Picking the Brain of a Rare Disease Dad - With CTNNB1 Dadvocate - Casey Parks

    Picking the Brain of a Rare Disease Dad - With CTNNB1 Dadvocate - Casey Parks

    ONCE UPON A GENE - EPISODE 140
    Picking the Brain of a Rare Disease Dad - with CTNNB1 Dadvocate - Casey Parks

    CTNNB1 Dadvocate Casey Parks, is back to talk about life and how things are going so far in 2022.


    EPISODE HIGHLIGHTS

    Can you share about your career and how you show up for that in addition to being a dad?
    I'm a senior deputy prosecuting attorney and I ask juries to convict criminals of the crimes they've committed. I currently work in the county domestic violence department and deal mostly with assault and other domestic violence crimes. I love my job, but I have to be present and it takes a toll. I have to get in a specific mental headspace when I come home from work in order to disengage from trial and be present for my family. It's very hard to do.

    Do you feel like you're killing it at work and killing it at home or do you feel spread thin and feel like you're not doing a great job anywhere?
    There are days that I stare at the computer, trying to do the grunt work necessary to be an effective trial attorney, and it's hard to focus because I'm burned out. And it's the same at home- there are days when I am short and I don't feel like I'm doing a good job. 

    What's the biggest surprise you've learned about yourself as a dad?
    The amount of patience required to deal with everything we have to deal with as rare disease parents. The behaviors Ford has difficulty controlling that aren't his fault require unreal amounts of patience. I realized that I didn't have the level of patience needed and it was a shortcoming that was surprising to me. 

    What are your healthy and not-so-healthy coping skills you use through your mental health journey?
    A healthy skill is realizing when I need a break and communicating that. I try to get together with my friends once a month or so to play games. I take a break during the day to get outside and walk or get something to eat or a cup of coffee. Some unhealthy things include when I eat unhealthy foods, sit on my phone and sit like a couch potato when I should get up and exercise or something else that better maximizes the use of an important time capital. 

    Do you think it would be helpful to connect with other rare dads?
    The way I am and the way I've always functioned, friendships need to function organically. I'm not the type of socialite to go out and introduce myself to people because I want to be their friend. That's not something that's helpful for me, but if I were to meet someone organically, I think the presence in my life would be good to have a sense of connection. 


    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/

    • 27 min
    A Rare Collection - Remember Who You Are

    A Rare Collection - Remember Who You Are

    ONCE UPON A GENE - EPISODE 139
    A Rare Collection - Remember Who You Are

    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

    Madeleine Oudin
    When her daughter Margo was born, Madeleine couldn't wait to take her on adventures across the world. As Margo's due date approached, Madeleine had already applied for her passport and received it by the time she was only two months old. Her first trip to France was booked when she was three months old. Just two days before the trip, Margo had her first seizures and she was diagnosed with epilepsy. When Margo's genetic testing results were processed, she was diagnosed with two mutations in the SCN8A gene, one of a number of genes that can cause epilepsy. Despite Margo's medical complexities, extra planning and equipment, Madeleine has made her dreams of enjoying the magic of adventures with her family come true. 

    Alyssa Poskarbiewicz
    As a new mom to a son, Alyssa embraced her new title of mom. When she became a mom to her daughter, born six weeks early, her experience was much different. At just a couple days old, Alyssa learned that her daughter had multiple medical complexities. She had her first surgery at only five days old and was diagnosed with CHARGE syndrome.  Navigating hospital life, forced to face painful and gut-wrenching moments, motherhood didn't look like Alyssa imagined.The expectation of what motherhood would look like wasn't reflected in being a mom to her daughter-  it was terrifying. Shifting roles from mom to her son and mom to her daughter is complicated, messy, confusing and exhausting, but it's changed Alyssa. Her son made her a mom, but her daughter makes her a better mom. 

    Kaitlin Walden
    We're not just rare disease parents. We're still individuals who long for things, who need to feel fulfilled and nurtured. As a parent of a medically complex child, Kaitlin found herself losing touch with who she was, and instead, found herself navigating a world of advocacy and living the life of an active duty military spouse. The journey with rare kids is hard work and nothing detracts from the sacrifices that have to be made, but we're capable of being someone else too. Don't lose sight of your seed in the garden, water it, nurture it, and let it blossom.

    Erin Monast
    Early in her rare disease parenting journey, Erin recalls the guilt of doing anything besides parenting. After redefining the meaning of self care, Erin rediscovered the voice inside-  the one saying "I'm still here". Self care is doing anything that makes you feel most like yourself. Erin now puts herself at the top of the list so she can be better at all that she does. Listen to the voice inside and let it guide you back to the truest version of 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/

    • 24 min
    Effisode - Find Your Fairy Godmother

    Effisode - Find Your Fairy Godmother

    Intro music by Scott Holmes

    • 5 min
    Episode 138 - When Your Child is Facing the Most Severe Form of Human Epilepsy You fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer Merriam

    Episode 138 - When Your Child is Facing the Most Severe Form of Human Epilepsy You fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer Merriam

    ONCE UPON A GENE - EPISODE 138
    When Your Child is Facing the Most Severe Form of Human Epilepsy You Fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer Merriam

    Jenifer Merriam and Niki Markou are courageous moms, serving on the Board of Directors for Chelsea's Hope Lafora Research Fund. Lafora disease is a severe, progressive, fatal form of epilepsy that manifests in teens. They share what it's like to cope with a child's suffering with a rare disease with no cure. These moms are working together to fund research for medical therapies and were recently awarded a Chan Zuckerberg Initiative Rare As One grant, which will help in their race against time for their children. 

    EPISODE HIGHLIGHTS

    Niki, can you introduce yourself?
    I live in Sydney, Australia and have an 18 year old daughter who has Lafora disease. She was healthy until she was 14, when she fell down and had a seizure. 

    Jenifer, can you introduce yourself?
    My daughter was a healthy teen and around age 15, she started experiencing myoclonic jerking in her hands and arms. Eventually she began having frequent seizures, cognitive decline and was diagnosed with Lafora disease.

    What are your current barriers for gaining access to treatments for Lafora Disease?
    In the labs, they've found therapies, but we don't have any human clinical trials, which is what we're raising awareness around. With therapies available, we want to get our children to clinical trials to see if the therapies work. We've had planned clinical trials before that haven't successfully happened because there aren't enough Lafora patients for a return on investment. 

    What are you doing to move forward in finding potential treatments for Lafora?
    We talk to a lot of organizations for similar diseases, talk to professors and biochemists around the world, meet and brainstorm, seek alternative pathways and drugs that could be used. Every minute we have we are taking this on, trying to find a solution.

    LINKS & RESOURCES MENTIONED

    Chelsea's Hope Lafora Children Research Fund
    https://chelseashope.org/
    Lafora Disease Families on Facebook
    https://www.facebook.com/groups/laforadiseasefamilies/
    Chan Zuckerberg Initiative 
    https://chanzuckerberg.com/


    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/
    Once Upon a Gene TV
    https://www.thedisordercollection.com/

    • 36 min

Customer Reviews

5.0 out of 5
186 Ratings

186 Ratings

Project Moho ,

Once upon a gene

Effie’s podcast is a godsend to all those impacted by gene disorders.

DD-man ,

If rare disease or disability impacts you listen to this.

I’ve heard so many rare disease families stories. I’ve shared my own. The single most reported pain point is feeling isolated. Effie’s podcast fixes that. She gathers people who “get it” and listens and engages and lets them become less alone. The truths she shared are powerful. We can all learn from her and her amazing guests. ( Not just those directly touched by rare diseases. )

CrimeJunkyCaitlin ,

Life saver

What an incredible place of hope, honesty and encouragement. On the same day I got my son’s diagnosis, my sister in law told me to listen to one of the episodes geared towards newly diagnosed families in those early, difficult days. It gave me so much hope when I could barely see straight. Each episode makes me feel less alone and inspires me to be a better advocate and mother to my son.

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