ONCE UPON A GENE - EPISODE 105 Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona  Christopher Velona is a rare dad on a mission, driving the goals of Project Sebastian. He joins me to share open, honest and vulnerable experiences from his life since his son Sebastian was diagnosed with Battens disease. EPISODE HIGHLIGHTS Can you tell us about your family? I have two boys, ages 16 and 18, Gage and Sebastian. Sebastian has a rare disease called Batten disease variant CLN8. As a result of seizures, we were misdiagnosed with epilepsy. When Sebastian later had an onset of issues unrelated to epilepsy such as tripping, speaking, difficulty seeing and fine motor skill loss, we were referred for genetic testing and the diagnosis of Batten disease was confirmed.  What did you do with the diagnosis? I did everything the doctor said not to do. I went to WebMD and Google, scouring the internet for Batten disease and reading all the horrible stories online. I was also going through a divorce at the time and I was very angry, sad, resentful and lost. As the diagnosis only further drove us apart, I didn't have the support of a partner.  What has helped you transition into being a single dad and managing Sebastian's diagnosis? I had the support of my family and friends. I'm sober from drugs and alcohol for almost 26 years and I believe in Alcoholics Anonymous, applying the twelve steps to my daily life. With life-changing news, I had to really rely on my tools or face depression. I didn't want to believe it and it was challenging, which led to depression. I used the steps, went to meetings and was able to pull myself out of the depression. I found a mom that gave it to me straight- Kristen Gray from Charlotte and Gwenyth Gray Foundation. She has two children with Batten disease CLN6. She's been a great friend and great support system.  Can you tell us about Project Sebastian? Currently, there's no cure for Batten disease, but there are treatments available to prolong the life of the child. Project Sebastian makes a lot of noise, attacking advocacy and research efforts from all sides. I called my government officials and we co-authored Senate Joint Resolution 25 for Batten Disease Awareness Weekend, which went through the California State Senate and House and unanimously passed. As a result, the first weekend in June is Batten Disease Awareness Weekend for the state of California. RESOURCES AND LINKS MENTIONED Charlotte and Gwenyth Gray Foundation https://www.curebatten.org/ Neurogene https://www.neurogene.com/ Project Sebastian Website https://www.projectsebastian.org/ 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

Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona

Effisode - Two Disabled Dudes

ONCE UPON A GENE - EPISODE 104 A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt 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. Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt share stories of courage. EPISODE HIGHLIGHTS Felix Townsin The day his sister lost her life to Blau Syndrome, Felix thought his world was over. Courage is the ability to do something that scares you or to have strength in the face of grief and pain. Felix knows he's learned to be courageous from Lexi, and he's learned that courage is moving through the pain with no shortcuts.  Erica Jolene Stearns Erica learned courage at a young age. As she grew, having courage meant going to the swimming pool with trach tape covering her trach, assuming the risk of diving into the water, and answering inquiries about her scars. She frequently found courage in herself when confronted by bullies. It took courage to ignore them and strength to persevere through the pain, facing the bullies again and again every day. In adulthood, courage was wrong with her child and saying it over and over again when she felt no one was listening.  Mahrynn McLaughlin Mahrynn shares a lesson from improv class. Leaning into living with her disability, Mahrynn sometimes feels too much or too little. In living with and not despite disability, she's learning to live courageously.  Brianna Colquitt Brianna used her training in CPR when she found her neighbor unconscious. She researched the heart, the signs and symptoms of a heart attack, which later helped her to quickly notice the signs in her dad. Through these experiences, she began working with the American Heart Association and has pursued a career in nursing. 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/

A Rare Collection - Rare Disease Storytelling with Felix Townsin, Erica Jolene Stearns, Brianna Colquitt, and Mahrynn McLaughlin

ONCE UPON A GENE - EPISODE 103 How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue and Decision Fatigue with Counselor Rose Reif Rose Reif is a therapist with over 20 years experience specifically tailored to those with disabilities and caregivers and she's back to share her knowledge about the three types of fatigue we face and how we can find more balance. EPISODE HIGHLIGHTS What can we do as caregivers when the things we're doing for ourselves aren't enough? Ask someone devoted to you and ask what they see you doing that could be delegated to someone else. Usually it's not the things you're doing for yourself that's a problem, but it's the things you're doing to maintain everyone else. While we as humans like routine, we also get bored easily, so consider if the things you're doing for yourself aren't fulfilling or valuable anymore.  How do you handle potentially negative feedback if you get it? I encourage people to think of their lives as a compelling story where they're the hero. If we think of all the heroes we love, the characters have a guide and every hero needs a guide and truths along the way. Remember there's a reason you've gotten to the point you are where you're burned out and tired and acknowledge the greatness of having people in your life who speak honestly and make suggestions.  Can you explain what self care is? It's not the weekend mountain retreat doing yoga. Self care is boring. Self care is sitting down and doing a budget at the beginning of the month so you have accountability, can make wise decisions for yourself and avoid money stress through the month. Self care is brushing your teeth, making yourself doctor's appointments and committing to little acts through the day to care for yourself.  What is compassion fatigue? Compassion fatigue is when you experience a secondary traumatization, spending so much time with people who have gone through traumatic events that a person inherits the trauma experience. Compassion fatigue has physical ramifications in overall health and has a physical drain on the body. Compassion fatigue leads to an experience of trauma responses, dis-associating and going numb, losing the ability to care. Compassion fatigue is being newly studied in parents raising disabled kids. Can you describe Decision Fatigue? It has more to do with the decision maker and their wellbeing than the decision at hand. I encourage people to pre-make decisions and find ways to cut down on how many decisions you have to make in a day, especially where big decisions may be ahead. RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 027 - Therapy Check-in with Rose Reif Taking Care with Rose Reif on The Disorder Channel Reif Counseling Services TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram Built Ford Tough Facebook Group Once Upon a Gene on Clubhouse

How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue, and Decision Fatigue with Counselor Rose Reif

Effisode - The Kids Do NAPA Center in Los Angeles

ONCE UPON A GENE - EPISODE 102 Strength: How We View It, Define It and How It Changes As We Move Through Life With Rare Disease and Chronic Illness - Marni Cartelli At a time in her life that everything felt out of control, Marni Cartelli took action. She is making changes for herself and our entire community, like the upcoming October 29th #Press4Hope Challenge. EPISODE HIGHLIGHTS How did you come into the world of rare disease and chronic illness? I entered the rare disease community in 2015 when I had an accident at my job as an OR Scrub. My shoulder dislocated and the pain was more severe than it should have been, even after my shoulder was back in place. Over the next year, we searched for answers for why the pain was increasing and why my shoulder repeatedly dislocated. One day my arm went blue and cold and my doctor knew what it was- a rare condition called sympathetic dystrophy (RSD) or complex regional pain syndrome (CRPS).  What experiences left you feeling the most hopeless and defeated? Soon after I finally had a diagnosis, I lost my job because of it. The other was through the course of fighting for treatments I needed, appeal after appeal. Going head first into advocacy was a wonderful way to connect to the rare disease community, but I did it without addressing the physical or mental challenges I was dealing with. When the pandemic hit and all my activities shut down which resulted in tremors, sweating, swelling, I couldn't dress and struggled to feed myself. I realized I never addressed my emotions, but buried them under things to do until I started on my journey of self-reflection that I never took the time to do after being diagnosed. What led you to choose a course of self-reflection? I was in a place to receive the message. Sometimes we hear things and we're not ready to hear them or take action, especially in the rare disease face. I realized I was done living my life in fear.  What is the #Press4Hope Challenge? The #Press4Hope Challenge will be taking place on October 29th at TCBOOST Sports Performance in Chicago. It's a fundraising event for Uplifting Athletes where I will be lifting my max amount of weight as many times as possible in ten minutes with a goal of breaking Northwestern's record of 6,525 pounds. I want to press over 7,000 pounds for the more than 7,000 rare diseases identified in the community.  RESOURCES MENTIONED ONCE UPON A GENE - Episode 095 - A Rare Collection- Skin in the Game with Adam Johnson, Nathan Peck and Marni Cartelli https://effieparks.com/podcast/episode-095-rare-collection-skin-in-the-game Barby Ingle http://barbyingle.com/ Uplifting Athletes https://www.upliftingathletes.org/ TCBOOST Sports Performance https://tcboost.com/ CONNECT WITH MARNI CARTELLI Marni on Instagram https://www.instagram.com/purrr_fectlyrare/ Marni on Twitter https://twitter.com/Purrfectly_Rare 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 on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene

Strength - How We View It, Define It and Move Through Life with Rare Disease and Chronic Illness with Marni Cartelli

ONCE UPON A GENE - EPISODE 101 Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special: Antidotes to the Obsessions that Come with a Child's Disability Author Melanie Dimmit received her son's cerebral palsy (CP) diagnosis and she scoured the world for hope, stories, insight and companionship- desperate to know what she was up against and that everything was going to be okay. The result is her book, Special: Antidotes to the Obsessions that Come with a Child's Disability. EPISODE HIGHLIGHTS When you say not to feel ashamed of your feelings, what does that mean? At the beginning, it's hard because you have thoughts and feelings that make you feel like a terrible person because most of us come to disability with no experience or knowledge. I thought my son having a cerebral palsy diagnosis was the worst thing that could ever happen to me or him and it felt like the end of the world. You think terrible things, you feel like you can't talk to anyone about how you're feeling, and you have layers and layers of guilt. Getting a diagnosis and learning that your child's life won't be how you imagined is a form of grief. All of this is normal. Give yourself time and don't beat yourself up as you process through the thoughts and feelings you initially have.  Were you good at processing your feelings and moving on? I was good at being in denial and I didn't accept Arlo's disability for about six months. I began to see a psychologist who helped me to feel anger and sadness, to acknowledge how hard it is and that it's okay to feel how I feel. Professional help and connecting with other parents while writing my book helped me feel less alone. What moments with Odie do you savor because of Arlo? Everything. As she was growing up, it blew our minds how easily things came to her as we were working so hard with Arlo. Arlo is nonverbal, he doesn't roll, he doesn't sit and left to his own devices lies on the floor with a big smile on his face. He needs a lot of support, nothing comes easy and he's worked incredibly hard for head control, core strength and fine motor skills. There's a bitter-sweetness to Odie growing and hitting milestones, but having Arlo has made us more relaxed and better parents to Odie. If you were asked to submit a story to your book today, what would it be? Special is a gaping wound for me, though I'm glad it's there for parents just starting their journey. I feel entirely different now. The old me wouldn't want to hear the new me saying it's fine. I'd say to old me that I know I think people are pretending it's okay when it's not, and they're making the best of the scenario, but I promise that's not true. I promise you that you'll never wish this away. It's hard, unfair at times, times that Arlo is unwell and it's awful, but I wouldn't change any of it. Arlo is a phenomenal person, he's so much cooler than you can imagine. You are happier and more fulfilled than you ever would have been without Arlo. RESOURCES MENTIONED Special: Antidotes to the obsessions that come with a child's disability https://www.amazon.com/Special-Antidotes-obsessions-childs-disability-ebook/dp/B07QPDQC27 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 on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene

Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special - Antidotes to the Obsessions that Come with a Child's Disability

Effisode - Road Trip to NAPA Center

ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point 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. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich’s Ataxia Kyle was diagnosed with Friedreich’s Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben.  Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. 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/

A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

ONCE UPON A GENE - EPISODE 099 Strength and Inspiration Found Through Rare Disease for Advocacy and a Patient First Movement with CEO of Optime Care - Donovan Quill Donovan Quill has made it his personal mission to help patients who suffer from an orphan disorder that has affected his entire family, Alpha-1 Antitrypsin Deficiency. His advocacy efforts have led to his role as the CEO and President of Optime Care, a nationally recognized pharmacy, distribution and patient management organization. Donovan is also the host of the Rare Voices podcast.  EPISODE HIGHLIGHTS Can you tell us about the Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitrypsin Deficiency is a genetic disorder where the body doesn't make a protein that protects your lungs or liver from deterioration. Most of my family suffers from the lung effects of the disease, but my father had both the lung and liver related effects of the disease and passed away from liver failure. Most of my aunts and uncles passed away in their 40's from lung and liver components of Alpha-1 and my father passed away at 69 because of his treatment and the care model he managed and lived. What was the defining moment that shaped how you run Optime Care? My father had a bright light about him, was education focused and always wanting to learn and that rubbed off on me, learning as much as possible about the patients we serve and the disorders we work with. My parents instilled traits in me to do the right thing, make sure people are cared for, and treat everyone with respect. Diagnosis day is something my family experienced several times and it helps me to think about how patients react to and experience diagnosis and all that they go through. What rare patients go through on a daily basis has shaped what we are as a company, how we develop care plans and treat patients. What is the most meaningful thing that has happened since starting your company? I say the greatest metric we have is the relationships with our patients and the success of the company. The individuals who support the mission get letters from patients, invites to personal events like birthdays, holiday dinners and celebratory milestones. Patients stop in to see us when they're traveling in the area to meet their care coordinators and pharmacists. That's what has been the most rewarding for me, seeing the impact the care coordinators, pharmacists and nurses have on patients. It's a special, magical experience. Can you talk about the Rare Voices Podcast? Everyone has a voice and to really understand the rare disease world, you have to look at the patient perspective and also understand there's a lot that goes into bringing a drug to market, getting a drug covered or building a care program. So many people become their own advocates and push to bring about change in the world of rare disease, so we've found people to tell their story on the podcast. People aren't running away from their story, they're not hiding their story- they want to tell it and there's a mission behind it. The more we can get people to tell their story, the more awareness we can get around disorders and diseases that affect only a small number of patients. We want people to be aware of rare diseases that need more attention so we can get research, development and resources for finding treatments and cures. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Optime Care https://www.optimecare.com/ Donovan Quill Linkedin https://www.linkedin.com/in/donovan-quill-428a9211 Rare Voices Podcast https://www.optimecare.com/rare-voices/

Strength and Inspiration Found Through Rare Disease for Advocacy and a Patient First Movement with CEO of Optime Care - Donovan Quill

Effisode - Ford Goes to Kindergarten

ONCE UPON A GENE - EPISODE 098 Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan Perlstein Ethan Perlstein is Founder of Perlara and on Clubhouse every Tuesday and Thursday in the Gene Fixers Club.  EPISODE HIGHLIGHTS What inspired your work as an entrepreneurial scientist at Perlara? It started at a professional crossroads when my sister received a rare disease diagnosis and it opened my eyes to the rare disease world. With a new personal connection to rare disease, having heard from patient groups on Twitter and being a professional crossroad, Perlara was born.  Talk about the relaunch of Perlara 2.0. Originally Perlara 1.0 set out to be the first biotech public benefit company (PBC) with a patient-centered model, finding families and foundations to be drug co-developers. Perlara 2.0 revolves around cure sherpas and guided cures. Guided cures is the process of finding medicines for ultra-rare disease with cure sherpas- scientists who devote time to a family or foundation on their rare disease journey. At Perlara, we are acting as a marketplace to match up cure sherpas with families and foundations that need a guided cure.  How can patient groups create a self-sustaining financial model? Crypto technology is being applied in the world of financing and there's over a trillion dollars of value sitting in crypto assets, mostly bitcoin. This could be put to work through communities staking liquidity pools and putting crypto to work. Communities could also issue coins in stock as a way to fund raise. Small communities can find creative ways to bypass traditional funding gatekeepers and access potential market value and put it to work. Pioneers are needed to explore crypto enabled crowd-funding. Taxes and pharma profits are another way to raise funds. Funding follows the plan, not the other way around. What do you mean by that? With a focus on a deliverable, project, tangible goal- something to fundraise around with a crowd-funding campaign. It's great energy, but the challenge is when you've spent the funds and didn't get the desired outcome. The temptation in the beginning is to take any action, but energy should be thrown into more than one project and have a bigger plan so you can fundraise for contingencies and access additional funding partners. Where should parents seek out resources to begin fundraising and building a plan? Perlara, along with other organizations, offers resources to start. The first resource should be the scientist who has dedicated their career to the gene responsible for the rare disease. Identify who the scientists are in the beginning and make those connections. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Gene Fixers Club  https://www.joinclubhouse.com/club/thegenefixers Perlara https://www.perlara.com/ Ethan Perlstein on Twitter https://twitter.com/eperlste 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 on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene

Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan Perlstein

ONCE UPON A GENE - EPISODE 097 A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom - Carole Bakhos Carole Bakhos' eight year old daughter Yara was diagnosed with Jordan's Syndrome five years ago. She shares how being Yara's mom has been an enabling journey of love, fear, joy and hope. Carol is the Project Manager for Jordan's Guardian Angels.  EPISODE HIGHLIGHTS Can you tell us about your family? We started on the rare disease journey when my daughter was two years old, diagnosed with a rare disease in the gene PPP2R5D, now known as Jordan's Syndrome. At the time, there were six children in the world who were known to have the disease, so we weren't given a lot of information. Our journey started as one of fear of the unknown and isolation. The diagnosis wasn't the end of our journey, but the start of a world of self-educating, learning and connecting. Now we have a global family that understand our experience. How did meeting others help you take action and accept Yara's diagnosis? You realize it's not just about your child, but it's much bigger than that and the impact becomes that much bigger, more powerful and rewarding.  Were you able to keep working or did you stay home to care for Yara full time? The first three years, I tried to do it all— working and focusing on my career, meeting with Yara's therapists at lunch, coming home to work with Yara, staying up all night reading and researching, creating activities for her and obsessing over it all. I got used to this routine and one day I knew I had to stop. I took six months off to focus on Yara, getting research started, collecting data and organizing the group. It was a tough decision and I struggled with it. Fate was kind to me and I'm now able to channel my skill and passion into my work with Jordan's Guardian Angels, connect with other families and make a difference. What are your tips for changing your perspective and mindset in these circumstances? I remember a moment of sulking and I thought about Yara and realized I was letting a beautiful thing that came into my life be a source of pain. I didn't want her to bring me anything but joy. I decided to love and celebrate Yara and give her a chance to make me happy. While thinking of the future can sometimes feel overwhelming, I want to ensure I give Yara the opportunity to continue filling my heart with joy. What work is Jordan's Guardian Angels doing? Jordan's Guardian Angels was started by the Lang family after their daughter Jordan was diagnosed with what is now called Jordan's Syndrome. The foundation has put together a research team from ten institutions and we meet every other month to share updates on the work and treatments path. We were able to get a grant that launched our work forward and we continue to open doors and turn stones over. Jordan's Syndrome has now been connected to Epilepsy, Autism, Alzheimer's, Parkinson's and the work we're doing can potentially bring answers to all these sub groups too. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Jordan's Guardian Angels https://jordansguardianangels.org/ A Rare Reality: the JGA Podcast https://jordansguardianangels.org/a-rare-reality/ 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 on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene

A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom - Carole Bakhos

Effisode - From the Sidelines

ONCE UPON A GENE - EPISODE 096 Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie Short Billie Short is the mom of a 20 year old daughter that has an undiagnosed rare disease. She shares what it's like to be a caregiver with chronic stress.  EPISODE HIGHLIGHTS Share a bit about yourself and your daughter. I've been caring for my adult daughter Emily for 20 years. She was a typical baby when she was born and I had an easy birth. At about three months old, I noticed she wasn't meeting milestones and we started testing. We've continued testing and determined she has some sort of genetic anomaly and we don't know what it is. Emily is non-verbal and non-ambulatory and has a lot of the same symptoms of Rett Syndrome.  How do you embrace not having a diagnosis? I'm at peace right now. If Emily never got a diagnosis, I would be okay. She is physically healthy and she's outgrown a lot of issues and I'm grateful for that. Recently, I've become more curious to seek answers as testing has changed, but not having a diagnosis offers some comfort in ignorance because I'm present focused and not diagnosis focused.  How have you managed your stress as a caretaker? The first 18 years, I was bitter and angry. In the last 2 years, I've learned to find the calm in the chaos and the zen in the zoo. It's been a mind change because this is our life and it's a beautiful life. I embrace the chaos and roll with it. My husband has depression which was brought on in part when Emily was born. When Emily was 18, he was able to get the resources he needed and we were able to break through that. So many parents don't take time to take care of their own health because they're focused on their children and when something forces you to face it, you have to re-evaluate everything.  How do you feel healthier as a caregiver? I started out trying to lose weight I gained over the years and I learned a lot about self-care and caregiver burnout. I learned to focus on my physical and mental well-being so that I could continue caring for Emily in the future. I also shifted my thinking of caring for Emily as a gift, not a burden. Changing the way I thought about caring for Emily really changed things. I'm a caregiver of myself first and ensure I'm rested, eating well and getting help from my resources so that I can be a caregiver to my daughter with an open heart, not resentment. How did you implement better self-care? I started turning the tv off and going to bed earlier so I could get up earlier and journal. I have an accountability group, I plan meals and plan as much as I can with my superpower- pivot and adapt. I know my plans may get interrupted, but I will figure out how to block time out later for it so it still happens. Part of my self-care has also been listening to podcasts which is getting me connected and helps me feel like I have the bandwidth to support other moms. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Conversation for Change https://conversation4change.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/  Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene

Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie Short

As a new parent of a child with special needs, 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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Once Upon A Gene

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