ONCE UPON A GENE - EPISODE 245 Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie Mariah Gillaspie is the mom of Abby and Emma, who both have a genetic condition called THAP12, and they're the only known patients in the world. Mariah is the Founder of Lightning and Love and an active rare disease advocate. Most recently, she's shifted her focus to community and established the Colorado Mama Tribe. EPISODE HIGHLIGHTS Can you tell us about the Colorado Mama Tribe? It's been a passion project for me that came out of necessity. When I was new to raising children with rare disease, I was very alone and lost, desperate to find someone who shared a similar story to me. It started with a small group of moms getting together and we've now grown to 400 members. We have monthly meetups for moms, which serves as a social opportunity, but also an opportunity to share and be supported by a community who gets it. We also have a yearly respite retreat and we put together care packages for moms in the hospital with their kids. We recently started providing free group and individual therapy for moms and we've started a bereavement group. How do you fundraise and support your programming? As we've grown, we've assembled different committees and we have an amazing fundraising committee who is rocking it. As a board, we largely handle fundraising and logistics to keep events mostly free and subsidized to take the burden off moms so they feel supported and taken care of through our offerings. What advice do you have for other parents who want to create something for their own community? It only takes a few people to commit to setting a time and place and showing up. Month after month, more and more people will show up and it can grow naturally. Set up a Facebook group, communicate dates and times and people will come. How has your self-care shifted through your pivot? Self care looks different and there's no time for bubble baths or massages right now. Colorado Mama Tribe has been a huge part of my self-care, forcing me to get out of the house, take time for myself away from my family and meet up with friends. I spend time out and about to reset, commiserate and celebrate. Additionally, it makes me feel better connected to my daughters because I'm allowing myself balance. LINKS & RESOURCES MENTIONED Colorado Mama Tribe on Facebook https://www.facebook.com/groups/coloradomamatribe Lightning and Love https://www.lightningandlove.org/ ONCE UPON A GENE - Episode 074 - Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation https://effieparks.com/podcast/episode-074-lightning-and-love-foundation 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 collection of voicemails from rare disease parents who relate to you situation.

ONCE UPON A GENE - EPISODE 235 Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges, strengths and about his journey of resilience.  EPISODE HIGHLIGHTS What has your diagnostic journey been like? The first few years were difficult. In 2015, I began a transition from working at a gym, running marathons and burning the candle at both ends. I developed sensitivity to food, I was fatigued and had an ongoing migraine. I went to an urgent care facility for what I thought was just a headache, but the doctor took a lot of time trying to uncover details about my health. After a routine exam, he referred me to a specialist, who referred me to a sub-specialist. Testing revealed that I had NMOSD, but despite the diagnosis, I received the good news that I would live a healthy, happy life.  How did you connect with others in the NMOSD community? I was initially connected through a clinical researcher who informed me of an upcoming patient community day. I went to the patient community day and met other patients who really inspired me. I was fortunate to connect with this community such a short time after receiving my diagnosis. Do you have any advice for someone who's newly diagnosed? It takes time to feel like you understand everything and have a handle on it. It's helpful to be involved with advocacy groups as early on as possible to learn. Give yourself the grace and permission to cry, to suck, to experience negative emotions— not because they're bad, but because they're human emotions. It's up to you to choose what you're going to do everyday, to choose what you put out in the universe, how you treat yourself and how you treat others.  LINKS AND RESOURCES MENTIONED Permission to Feel: Unlocking the Power of Emotions to Help Our Kids, Ourselves, and Our Society Thrive https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847 Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490/ Rare Connections in NMOSD, Alexion Pharmaceuticals, Inc. https://www.youtube.com/watch?v=cfnE7cxfY3s ONCE UPON A GENE - EPISODE 234 - Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd https://effieparks.com/podcast/episode-234-finding-glimmers-for-a-happier-healthier-life-with-katie-lloyd 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 162 Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca Pirozzi Gianluca Pirozzi is a dadvocate and Senior Vice President, Head of Development and Safety at Alexion, AstraZeneca. His daughter has Smith Magenis syndrome.  EPISODE HIGHLIGHTS What is your connection to rare disease and how does it connect with your work? My childhood best friend was diagnosed with a rare disease called Fanconi Anemia and he died at the age of 19. I saw the world through his eyes and I learned so much about life because of him. He is also the reason I studied medicine. Years later, my daughter was diagnosed with a rare disease called Smith Magenis. At the time I was in drug development and I changed my career to focus more on rare diseases. What role do caregivers play in the rare disease patient journey and is their advocacy essential? The caregiver plays a major role- they're the depository of knowledge and understanding of the disease. The caregiver best understands the impact of the disease on a patient's day-to-day life. Advocating through fundraising, organizing family conferences and participating in registries is important.  How has your perspective of pharma changed since becoming a rare dad? Being in the pharma business, I know how expensive it is to run clinical studies and clinical research. As a caregiver, I defend access for as many patients as possible, but I also know that without a return of investment, there would be no research that leads to advancement or development of rare disease medicine. What aspects of being a rare dad are you grateful for? I'm grateful for being reminded everyday of what is truly important in life. When I see the struggles my daughter has with simple things, she also has gratitude and happiness when she succeeds with simple things. What does it take to prepare for a family trip? We have to think steps in advance, thinking about what time we will travel so we are planning around my daughter's best time of day. We talk to the doctor about medicine to help her relax and sleep. We bring her special bed and medical stroller and call the airline ahead of time to accommodate. It's a complicated process and we plan for challenges the best we can, bearing in mind that we will also have beautiful memories and everyone will have a good time. 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

ONCE UPON A GENE - EPISODE 161 A Rare Collection - Beep Beep Beep 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 Brittany Stineman Emergency vehicles headed towards us and the sound of the vehicles coming to save my child's life played on repeat. The tears were different this time. They were tears of joy, gratitude and hope. Nash was born with an ultra-rare genetic condition called SMARD1. He was 11 months old when he was diagnosed, with a life expectancy of only 13 months and there were no treatments. No option was not an option. We started a non-profit called SmashSMARD and we focused on developing a treatment for SMARD1. We celebrated Nash's third birthday in a major way. The same emergency responders who have saved his life on multiple occasions joined the birthday parade celebrating a milestone we never imagined we'd reach.  Matt Hay In elementary school, the nurse conducted hearing tests in class. Each student took a turn wearing the headphones while the nurse turned several knobs, and each would raise a hand a dozen or so times to acknowledge they heard the beeps. When it was my turn, she only played a few beeps, or so I thought. Later in high school, I applied to the United States Military Academy. During the physical, the doctor played the familiar tones, scribbled some notes in my file and said the Army would be sending me a letter to explain what I needed to know. When the letter arrived, I learned that I failed my physical due to substandard auditory acuity and I wasn't qualified to serve in the Army. A few years into college, I could no longer hear well enough to use the phone. When I saw an audiologist, I was referred to a neurologist and MRI results revealed I had bilateral acoustic neuromas on my hearing nerves. I was diagnosed with Neurofibromatosis type 2 (NF2), a rare neurological disorder.  Erin Reoyo Beep, beep, beep sounds the familiar driver of the garbage truck right outside my son's room. She looks for him in the window, but he's not there to wave and cheer as she picks up the bins. I know how much my son adores the garbage truck driver and it's clear she adores him too. She doesn't know he lives with a rare, catastrophic epilepsy called Dravet Syndrome. I've never shared my son's story with the driver. Perhaps I want to spare her the worry and grief that comes with caring for someone with Dravet Syndrome.  Amanda Griffith Atkins When you were three years old, your backpack was bigger than you as you went up the steep stairs of the big yellow bus, off to your first day at preschool. Your school was equipped to care for kids with disabilities and you were safe with teachers that understood your disability. There was a lot to celebrate, but I lost something that day realizing our safe and quiet days at home were over. I waited eagerly at the end of the school day, listening for the beep-beep of the bus, and I ran out to take you into my arms. Can you believe it was ten years ago when you first stepped onto the bus? A lot has changed since then and you're nearly as tall as me now. Although your disability will never allow you to live on your own, the bus represents freedom and independence, taking you to your own world of friends, teachers and staff who love and celebrate 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 160 A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson Stormy Johnson has a son diagnosed with hemophilia. She was told she was just a carrier for the disorder. This assumption, born from the fact that mostly men are diagnosed with hemophilia, meant she didn't have answers for symptoms that were plaguing her. Other hemophilia patients encouraged her to dig deeper, which led to an even tougher road of being seen by medical professionals. Stormy is storming the castle to let everyone know that women are in fact more than carriers- she's an advocate doing great work for women with bleeding disorders.  EPISODE HIGHLIGHTS Can you share your son's diagnosis journey? When I was young, I was aware of my male cousins with something wrong with their blood, but that's all I knew. When my son was three, he had his tonsils removed and he had complications in recovery that led to emergency surgery. Initially doctors thought maybe he had a bleeding disorder, but he was released after a few days. A couple months later, he had blood in his urine that I attributed to a kidney blockage he had recently had. At a pediatrician's appointment, she recalled a patient with a bleeding disorder and she thought it was a good idea to check into things further. After my son was diagnosed, I realized what my cousins had was also hemophilia and that it affected others in my family as well- male and female. How did you find out you also had Hemophilia B?  When I would lose molars as a kid, I would bleed a lot. I also bruised easily. I had a laparoscopy when I was 18, which required a blood transfusion. There were always signs, but it was never questioned. After my son was diagnosed, I had testing done and took the results to the treatment center my son went to and I was referred. I was 47 when I got diagnosed.  What has motivated you to become an advocate? I found my voice at just the right time. I was terrified of speaking or talking to doctors, but I've learned so much through my experiences. Advocating is from my heart and it's not about me. Everything I do is for the community and it's been an amazing journey for me and my family.  What is your advice for women or even girls who may be listening and need tips for advocating for themselves and their healthcare concerns? It's very important to keep good notes and record everything. Speak to parents, siblings and family members who can shed light on childhood health matters or other family health history. Most importantly, don't give up. Fire your doctor and find another doctor. There's always someone out there who will fight with you, you just have to find them. LINKS & RESOURCES MENTIONED Portraits of Progress https://www.portraitsofprogress.com/ Bad Blood https://www.imdb.com/title/tt1773294/ BloodStream Media https://www.bloodstreammedia.com/ Remember the Girls https://rememberthegirls.org/ Sisterhood for Women Who Bleed on Facebook Group https://m.facebook.com/groups/235001807617544 Sisterhood for Women Who Bleed on Instagram https://www.instagram.com/vwd_hemo_sisterhood/ 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

ONCE UPON A GENE - EPISODE 159 Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins Spencer Bishins has a Master's degree in economics and a law degree, but after working for SSA for more than 10 years, he shifted his expertise to demystifying the complicated disability system. His first book, Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It, explores the obstacles disability claimants face as they navigate the benefits system.  EPISODE HIGHLIGHTS Can you tell us about your career and what motivated you to write your book? After law school, I accepted a job with the Social Security Administration. The SSA system sometimes feels like a computer is deciding a person's case. That's partly because the rules can be very strict and partly because they're monitoring how many cases are being paid to over a million people that file for social security disability benefits every year. Feeling like a claimant is a statistic, moving through an in-personal process where their story is lost can be frustrating. The purpose of the book is to help people understand the process better and know how to deal with situations that may arise during the process.  What is the difference between SSI and SSDI? There are two social security disability programs. Social security tax paid through payroll funds the retirement program, but it also funds the SSDI program. SSDI is only for adults, but adults can also apply for the SSI program if they don't qualify for SSDI benefits. SSI payout is a lot lower payout and a lot stricter. Kids can also receive SSI based on the standard of impairment and functioning, as referenced in the ruling SSR 09-2P to SSR 09-8P. If a child has been approved for SSI, as they approach adulthood, you'll be notified that the child will undergo an evaluation to determine if they're able to work and they may lose their benefits. If a parent has worked and earned SSDI benefits, their adult child can file a claim on their parent's earning record through a program called Disabled Adult Child (DAC) claim. The wage-earner has to be deceased, retired or disabled and in some way a social security recipient themselves.  For parents who care for their children full time and can no longer work, how can they benefit from social security disability? If you've worked long enough to earn social security credits, you may have SSDI coverage. Filing a disability claim if you've paid into the system is called an entitlement and you're entitled to receive benefits if you qualify. You can talk to a social security representative if you're considering filing a claim for yourself as a parent. If you're approved for SSDI, you can also get access to Medicare. CONNECT WITH SPENCER Facebook https://www.facebook.com/BishinsPublishing/ Instagram https://www.instagram.com/bishinspublishing/ Twitter https://twitter.com/bishinspub LINKS & RESOURCES MENTIONED Determining Childhood Disability – Documenting a Child's Impairment-Related Limitations https://www.ssa.gov/OP_Home/rulings/ssi/02/SSR2009-02-ssi-02.html Bishins Publishing https://www.bishinspublishing.com/ Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It https://www.amazon.com/Social-Security.../dp/B0B5PQ6ZYD 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 158 Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler Wendy Erler is passionate about the caregiver and patient voice being at the forefront of her work at Alexion Pharmaceuticals. Urvi Gupta is a second year medical student, working with the rare disease community to shape her professional path forward in the medical field. In this episode, I talk with Wendy Erler and Urvi Gupta about the Global Genes Rare Compassion Program.  EPISODE HIGHLIGHTS Wendy, can you tell us about yourself? I lead the patient advocacy team at Alexion, a pharmaceutical company focused on rare diseases. We work with physicians, patients, families and caregivers and my job is focused on elevating that partnership and bringing the patient and caregiver voice into everything we do.  Urvi, can you share how you became involved with the rare disease community? In a class called Clinical Correlation, we had a patient visit and they mentioned the Global Genes Rare Compassion Program, which matches up medical students with patients who have rare diseases to allow them to learn from each other. I've had three patient partners through that program and it's been amazing and inspiring to network with everyone in the rare disease community.  Urvi, how essential do you think it is to experience a true doctor-patient relationship already? So many patients say their course of treatment varies greatly based on how well their doctor listens to them. I think that's so important when it comes to rare diseases because it's not something you see often and when a patient presents a unique set of symptoms, they can't be brushed off. It's been helpful to experience and come to understand that the patient's perspective is the one that matters and what will help get a diagnosis.  Urvi, in what ways are you interested in raising awareness of the rare disease community? I would advise all medical students interested in rare disease to join the Global Genes Rare Compassion Program. There are a lot of other rare disease organizations always looking for help and there's likely a perspective you can offer.  LINKS & RESOURCES MENTIONED Global Genes Rare Compassion Program https://globalgenes.org/compassion/ Alexion Pharmaceuticals https://alexion.com/ Connor B. Judge Foundation https://www.connorbjudgefoundation.org/ CONNECT WITH WENDY & URVI Wendy Erler https://www.linkedin.com/in/wendyerler/ Urvi Gupta https://www.linkedin.com/in/urvigupta1/ 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 - EPISODE 157 Episode 157 - The Effects of Rare Disease on Relationships and How to Cope When You and Your Partner Have Different Strategies with KCNH1 Founder and Rare Mama Michaelle Jinnette Michaelle Jinette is a wife and the mom to four boys. Her last son was born with a rare disease and she started a foundation to find and help create a therapy for kids with KCNH1 related disorders. She is also a marriage and family therapist and we're talking with her about the mental aspects of the rare disease world.  EPISODE HIGHLIGHTS What advice do you have for parents at the beginning of the rare disease journey? Find a balance of allowing yourself time to process and grieve, but try to move forward and cope in healthy ways. Find what grounds you, stay present, limit negative thoughts of the future and reach out for support from professions, friends and family.  When stuck in the comparison phase, what advice do you have for parents to move beyond that? Have perspective and be intentional about seeking and having gratitude. Bitterness will isolate you, so choose gratitude and choose to shift your focus to the abilities your child does have, to joy, to your support system, or anything else.  What tips do you have for maintaining a healthy marriage? Marriage and marriage with young kids is hard to begin with without the added complexity and stress of having kids with extra needs. You have to choose your priorities and set boundaries to focus on them. Carve time out for yourself and your spouse by hiring or asking for help. When you are together, be present and not on your phone or distracted otherwise.  In the way that men and women handle things differently, how can we ensure there's not a resulting resentment? Very frequently in relationships, there's one partner who is less comfortable with emotional connections and one partner pushing for more emotional connections. With major stressors or grief around diagnosis and health issues, women may feel like men won't talk openly and they feel isolated, when in fact, studies have shown that in conflict or emotional situations, men are dis-regulated. They're overwhelmed, but they cope by avoiding, shutting down and withdrawing. It's important to remember that while your partner may be withdrawn or holding back feelings, that doesn't mean they don't care. Try to have conversations at times when tension isn't high. LINKS & RESOURCES MENTIONED Clubhouse Gene Fixers https://www.clubhouse.com/club/thegenefixers 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 234 Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd This new series, Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light our way forward. Let's chase those glimmers together! EPISODE HIGHLIGHTS Katie, what is your vision for this series? I think many caregivers to family members who have rare diseases, or perhaps they have a rare disease themselves, find themselves in a really dark place initially. It feels like you're in a deep trench where everything feels hopeless and scary. I'm not really in that place anymore, life has moved on a little bit, and I see things differently. I feel differently from how I did four years ago. But some of the narratives I see online tend to stay in that deep, dark place, surrounded by a lot of negativity. What I would love to see is people who change that narrative, who bring light and joy to their communities, despite all the terrible things that are happening. Effie, can you talk about the stories we want to share and what we want to pull from the community? I want to feature stories from the community about when someone inspires you to be brave, or stories about perspective changes and parent positivity. I believe we rise by lifting others and even celebrating someone's achievement or highlighting someone's inspiring content shifts the narrative. The bead doesn't need to be hidden, but the good needs to be highlighted. We'd love to hear stories of bravery and community connection, how positivity has affected you, how situations have manifested into new relationships and circumstances. We want to hear about the little Glimmers and the big ones too. Effie, what is your advice for protecting yourself from negativity? As a caregiver who was so sad, disconnected and deeply isolated, I reached out through podcasting and got everything I needed without giving anything, because I didn't have anything to give at the time. Through this, I found my community and my people. When you're in the thick of it, you need support and embrace, and that's what listening to other people's stories did for me. My advice is to seek out a space where you can just receive, like this podcast. Katie, what would you like to leave our friends with today? Please don't look at this as a crusade against all negativity, because sometimes things just aren't wonderful. Instead, start to take notice of glimmers that are happening in your life and see what happens if you turn your attention to it. LINKS AND RESOURCES MENTIONED HNRNP Family Foundation https://www.hnrnp.org/ ONCE UPON A GENE - Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd https://effieparks.com/podcast/episode-125-katie-lloyd 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.fac ebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 156 A Rare Collection - Batten Down the Hatches 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 My best friend- Kelly Vandewerker Prior to 2015, I lived a life unaffected by rare disease. When Effie became pregnant, I hosted her baby shower and couldn't wait for her baby to be born. I had a three year old and one year old at the time and imagined them being best friends, going to summer camp together, and spending summers together on our boat. When Ford was born, we knew something wasn't quite right and over the months that followed, he was placed on a feeding tube and made regular trips to the ER. When we had our scheduled girls weekends, Effie didn't want to talk about it- she was angry. As her friend, I didn't know how to support her and outside of sending meals, I didn't know what she needed. When Ford got his CTNNB1 diagnosis, it empowered Effie to stand up and fight. She knew what Ford was up against, she found a tribe of people and she found her voice. With that, she was able to share how her friends and family could support her and her family. I found my passion in helping Ford through fundraising, advocating, building programs and helping schools write grants to fund programs. When it comes to rare diseases, we're all learning and there are a lot of unanswered questions, so support research, support your friends and love on all the amazing rare kiddos.  Best friend to Parvathy Raman Krishnan- Sri Vidhya Parvathy and I attended school together in India from kindergarten through 12th grade. We knew each other by name and nothing more and came to the United States at different times. When my husband and I learned Parvathy and her husband lived close to us, we met with them and immediately had a spark between our families- like we knew each other forever. As our friendship grew blissfully, Parvathy's husband broke the devastating news to us that their oldest child had been diagnosed with a rare disease. My husband and I didn't know how to respond, whether to ask questions or give their family space. We decided to stay quiet, masking our heavy hearts. I started researching medical terms and gaining understanding so I could talk to my friend. It brought depth to our relationship and it gave us a bigger purpose. I'm always in awe of Parvathy and her husband's grit and determination to handle things, to inspire the world- spreading the message that nothing is too big to handle, merely by living their life everyday.  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 - EPISODE 155 CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy Adam Clatworthy is a passionate advocate and blogger with a focus on the importance of the caregiver voice and how much expertise we, as parents, caregivers and patients bring to the table.  EPISODE HIGHLIGHTS Can you tell us about your family? My wife is a pediatric nurse and I work in communications. We have a daughter named Daisy who will be 7 years old soon and a son named Alfie who is 17 months. We lost my daughter Lola just over a year ago. Our rare disease journey started with Lola and we didn't know what it was until about 18 months ago. When she was born, there were things that initially worried us and then her first seizure happened when she was 4 months old. Despite seeing several specialists over the following months, doctors didn't know what was causing Lola's symptoms. After Alfie began displaying the same symptoms as Lola, we went back to the geneticist and we were able to confirm the condition they both had was CRELD1.  Reflecting on what you know now about Lola's medical care, how do you approach Alfie's appointments? We feel heard and our neurologist recently presented a case study about the importance of listening to parents as part of the diagnosis phase. He reached out to us to understand as much as possible. When we talk about Alfie's treatment options, we feel heard when we share what did and didn't work for Lola. We're also exploring therapeutic and more natural remedies as well, so we're more resistant to trying multiple drugs and we seek out experts in fields that support the use of supplements and more natural remedies. While those remedies aren't always recognized in the general medical population, we have pushed to get guidance from the right people and bring it all together to work the best it can for Alfie.  What has been your experience connecting with other rare disease dads? I find that it's a struggle for men to talk about things and it's helpful to have an outlet to get things off your chest, vent, and get the pain and anger out of your head. Since starting the journey with Lola, I have lost touch with a lot of my friends because they didn't know how to be around me. There are a lot of moms in the rare disease community, which is great for my wife, but there aren't a lot of dads in the support groups. LINKS AND RESOURCES MENTIONED Global Genes Patient Advocacy Summit Recordings https://www.cvent.com/ CRELD1 Warriors Website https://www.creld1.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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 154 A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis Terry Pirovolakis is a rare disease crusader and father to Michael, who has SPG50. He made a gene therapy for his son in only 18 months. The work he has done will also transform the way rare diseases are treated. He's hosting free monthly 101, 102 and 103 gene therapy courses to help other families advance their programs. Learn more by visiting Terry's website, cureSPG50.org or by connecting with him on social media. EPISODE HIGHLIGHTS Can you share a little bit about Michael's diagnosis? Michael was born healthy, but wasn't hitting milestones like my other children. We learned through testing that he had a disease called Spastic Paraplegia Type 50 (SPG50). Shortly after the diagnosis, we began researching and reading articles, we flew to meet with experts in gene therapy and signed a contract a month later to start a gene therapy program which kicked off our journey. Is there a point where it's too late for gene therapy? I don't think it's ever too late for gene therapy. My perspective is that if children can get it from 1-6 months old, gene therapy can be a cure. After that, gene therapy becomes less of a cure and more of a treatment. Unfortunately for Michael, gene therapy is a treatment and not a cure, but our goal is to cure kids by getting SPG50 on the newborn screening panel so we can cure kids- not treat them.  What is your advice for other families who are on a journey to fund gene therapy and drug development? Families have to understand that a lot of money has to be raised and they have to be willing to give up a lot to get the money you need. You have to have a solid family and the right team. Get your community involved, get friends and family involved and think outside the box to spread awareness about your disease. I encourage families to take my classes and reach out to me throughout the gene therapy and drug development journey. CONNECT WITH TERRY Website https://www.curespg50.org/ Facebook https://www.facebook.com/CureSPG50 Instagram https://www.instagram.com/cure_spg50/ Twitter https://twitter.com/CureSPG50 Email info@CureSPG50.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 TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 153 Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi Bre Gastaldi is known as the Inclusive Educator and she teaches school districts how to implement inclusive practices. She's also a special education teacher. She joins me for a discussion on diversity and inclusion in all aspects of education and the school setting.  EPISODE HIGHLIGHTS Can you tell us about yourself and your work as an inclusion expert? I got into special education by way of my own neurodivergence. I was diagnosed with ADHD in middle school, studied psychology as an undergrad and I started understanding myself better and fell in love with psychology and working with kids. I got my masters degree and began teaching, eventually becoming an inclusion specialist. I was also looking for ways to include my students in a variety of activities. My students excelled because of it, the school culture shifted and I began working with other teachers and administrators to improve inclusion practices. I have since branched off and became the Inclusive Educator.  What is the biggest misconception around inclusion? Inclusion isn't a program because true inclusion exists within your child's general education classroom- it's not a class they go to. If only certain students can be in an inclusion program, it isn't inclusive. Inclusion is an undeniable sense of belonging from the time a child walks into a classroom. It's a feeling of belonging and being valued and celebrated.  How does inclusion affect a general education student? A 2008 analysis of several studies found that inclusion had a neutral to positive impact on neurotypical students in 81% percent of studies. When there's an inclusive classroom and culture, all students are learning more. School districts doing a good job being inclusive reveals an increase of graduation rates. Inclusion impacts general education students in that they improve in academics, but they're also socializing with a reduced sense of fear, they generally have a stronger self esteem and better sense of self. What are your top tips for inclusion? Let your child lead because they will tell you one way or another when they're ready to participate more. As a parent, be intentional about making positive connections with the multidisciplinary team. If your child isn't being included, start slowly with focusing on what their interests are. LINKS & RESOURCES MENTIONED The Inclusive Educator Website https://www.theinclusiveeducator.com/ Connect with Bre on Instagram https://www.instagram.com/the_inclusive_educator/ 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 152 A Rare Collection - Underestimated 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 Ryan Sheedy, Dad to Reynolds When I think about the word underestimate, I think about an underdog. As a kid my favorite movie was Rudy, the story of Daniel Ruettiger, a young man determined to play football for the University of Notre Dame. Rudy was too small, didn't have the grades to go to college and he was dyslexic. Now that I'm a dad, I love this movie even more because my son Reynolds is a real-life Rudy. He was diagnosed with an ultra rare disease called Costello Syndrome at 18 months old. Reynolds has spent 103 days in the hospital, has undergone countless surgeries, his medical team consists of 30 doctors and with an ultra rare disease, he is incredibly complex and medically fragile.  Reynolds never quits, he inspires many and reminds me to never underestimate the power of determination.  Stephen Hager, Dad to Emma When we were pregnant with our daughter, we underestimated how she would completely define who I was. When a neurologist explained her condition to us and said she would only live a few more months, we underestimated how resilient she would be. We underestimated the bureaucratic red tape we would encounter to get equipment and services. When we got services, we underestimated how draining it would be to take her to therapy five days a week. I underestimated how hard this life would be and how often I would need support. I also underestimated how readily people would offer support.  Christopher Andrade, Dad to Logan My wife Katie and I are raising three children. I always knew I wanted children, but underestimated how much I would love them. I love my children fiercely. Logan was diagnosed with Noonan Syndrome at a year old. Regardless of his condition, he was still my perfect son and nothing would change that. It was a struggle to get through the six months after Logan's diagnosis. I underestimated how painful it would be to be a parent. I remember the day the oncologist told us our son had cancer. I underestimated how painful it is to watch our children hurt and struggle, enduring things they shouldn't have to. It was brutally hard. When it came to his heart surgery, I underestimated what it would be like to see him after and the journey to recovery. When I started advocating online, I underestimated the toll it would take on me. 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 - EPISODE 151 Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson Adam "Dadvocate" Johnson and Katie Lloyd are on the podcast, joining me for a lighthearted chat about Brené Brown, a research professor who has spent the past two decades studying courage, vulnerability, shame, and empathy.  EPISODE HIGHLIGHTS Adam, what are some of your favorite quotes and why? One that stands out in terms of transitioning into the rare disease space is from Daring Greatly and says, "What we know matters, but who we are matters more." This was impactful to me because when rare disease happened and I was losing my career, transitioning into survival mode, I had to find myself again and remember that who I was mattered more.  Katie, can you share a quote that has impacted you? It's very scary to be vulnerable and it reminds me of the quote, "Tell the story of who you are with your whole heart." Last time I was on the podcast, I shared vulnerable thoughts and feelings and later worried about who would hear them. This quote reminds me that it's important to open up and share and that it helps others feel they're not alone. Brene talks a lot about shame and says, "Shame is the fear of disconnection." When we are vulnerable, especially talking about rare disease, we connect and we feel more open and less ashamed. LINKS & RESOURCES MENTIONED Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd https://effieparks.com/podcast/episode-125-katie-lloyd Episode 052 - Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story https://effieparks.com/podcast/episode-052-adam-johnson-mitochondrial-myopathy Brené Brown, TEDxHouston: The power of vulnerability https://www.ted.com/talks/brene_brown_the_power_of_vulnerability Dare to Lead https://brenebrown.com/book/dare-to-lead/ Atlas of the Heart https://brenebrown.com/book/atlas-of-the-heart/ Brené Brown: Atlas Of The Heart on HBO Max https://www.hbomax.com/series/urn:hbo:series:GYivWaAXEZMLDwwEAAACz Daring Greatly: How the Courage to Be Vulnerable Transforms the Way We Live, Love, Parent, and Lead https://www.amazon.com/Daring-Greatly-Courage-Vulnerable-Transforms/dp/1592408419 Parents As Rare Podcast https://rarediseasedad.com/parents-as-rare-my-pod A Very Rare Adventure Blog https://averyrareadventure.com/ The Imaginary Dad Podcast on YouTube https://www.youtube.com/channel/UCxSX6fMdpfcruG_Tt3JJ0TQ/featured 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 150 Rare Disease Families Have Plenty of Hope - They Need Help with Drug Development with NF2 Biosolutions Found - Nicole Henwood and Vibe Bio Co-Founder Alok Tayi Alok Tayi is a seasoned scientist and co-founder of Vibe Bio. Alok started Vibe Bio because the biggest obstacle in treating patients with overlooked diseases isn’t finding potential treatments — it’s funding them. Together we speak with Nicole Henwood, a rare mother, physician and president of NF2 Biosolutions, partnering with Vibe Bio to create Merlin Therapeutics, one of the first biotechs leveraging crypto's economic and coordination tools to fund research and drug development. EPISODE HIGHLIGHTS Nicole, can you introduce yourself?  I am a physician and my 11 year-old son AJ was diagnosed with neurofibromatosis type two (NF2) when he was 6 years old. I realized very quickly that what was available for treatment was not what I wanted to be available for my son. I founded a 501c3 charity called NF2 BioSolutions, focused on accelerating gene therapy research for NF2. Alok, can you introduce yourself?  Last year my daughter was born very sick and spent a long time suffering in the hospital. The condition she has is common and the biology behind it is well understood, but there were no therapeutic options available to her. That’s what motivated me to create Vibe Bio, which will give patients more ownership over the drug development process and a community to support them along the way.  Vibe Bio is considered a DAO, what does this mean?  A decentralized autonomous organization (DAO) is a digital collective of individuals focused on a common mission, and the actions of this collective are mediated by voting and governance through a token that we all hold. Vibe Bio is building a community of patients, scientists and partners to help identify and vet potential treatments in the rare disease space. We then actually fund the drug development activities from those programs using cryptocurrency token sales.  Can you tell us about your partnership between NF2 Biosolutions and Vibe Bio?  We’re excited to announce two partnerships with NF2 Biosolutions and Chelsea’s Hope, which are focused on NF2 and Lafora. These patient groups have developed a community of patients, caregivers and scientific leaders in the space. The challenge is that they’re able to show that medicines work in a pre-clinical context, but they lack the capital to get them into a clinical trial. There’s a lot of excitement around the work that we’re doing because we’re hoping to show how the patient and community driven model allows us to advance medicines and unlock the development of candidate treatments. LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Vibe Bio https://www.vibebio.com/ NF2 Biosolutions https://nf2biosolutions.org/ Merlin Therapeutics https://merlintherapeutics.com Chelsea’s Hope https://chelseashope.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 TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 233 Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing LINKS AND RESOURCES MENTIONED Project Findout https://projectfindout.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/

ONCE UPON A GENE - EPISODE 149 Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman Zachary and Geri Landman are the parents of Lucy, who was born with PGAP3 during the pandemic. They're brilliant and driven, seeking treatments through their nonprofit, Moonshot for Unicorns.  EPISODE HIGHLIGHTS Can you share a little bit about Lucy? Lucy is our adorable 14 month old daughter, born during the pandemic. Initially she was growing and developing like our two older daughters. When we began introducing food in a baby chair, Lucy would slump over. We weren't too concerned, but our pediatrician later referred us to a neurologist who recommended physical therapy. Lucy later underwent MRIs, a nerve conduction study, EEG to look for seizures and a spinal tap to look for potential infections or neurotransmitter deficiencies. After a final genetic test returned results, we were notified that Lucy had two bad copies of her PGAP3 gene. Because it was an ultra-rare diagnosis, there were no treatments, no therapies and no research around potential clinical trials.  What inspired you to start Moonshot for Unicorns? We didn't want any rare disease parents to go to bed the night of their diagnosis feeling the way we did- that there were no treatments and cures. A week after Lucy was diagnosed, we went into action mode, read every scientific paper available, emailed every author of every paper, learned all the details we could and started making connections with other families. We started Moonshot for Unicorns with a focus on PGAP3, but the goal is to develop therapies for the other single gene disorders that don't currently have treatments. Today, gene therapy is underway for PGAP3 and we're also doing drug repurposing work.  What has been your experience with drug repurposing so far? The labs are independent companies, some academic and some for profit, and you put your experiment in the queue and they give you a cost and timelines, which can vary and stretch out over months. We were told it could be up to 9 months until the lab would get to our experiment, so we started exploring the idea of a pop up lab. Going this route has given us a hands-on ability, we get regular updates and the possibilities are endless. LINKS & RESOURCES MENTIONED Moonshots for Unicorns https://www.moonshotsforunicorns.org/ @lucythepgap3goose on Instagram https://www.instagram.com/lucythepgap3goose/ Little Zebra Fund https://littlezebrafund.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 TV https://www.thedisordercollection.com/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 148 Rare Disease Siblings, The Glass House Children - Bulletproof and Shattered - With SMA Sibling Cara Freedman August is Spinal Muscular Atrophy (SMA) Awareness Month and sibling Cara Freedman joins me to discuss her experience growing up with her older brother Jack. EPISODE HIGHLIGHTS Can you tell us about your family? I'm 22 years old and just graduated college with a degree in biochemistry and molecular biology. My older brother passed away in October from SMA Type 1. He was wonderful, always had a smile on his face and acted like he didn't have a care in the world.  What was it like to be the sibling to Jack growing up? Before I went to school, I didn't know that having a brother like Jack was out of the norm. Attending school changed everything when I realized my peers noticed Jack in a way I hadn't before. It made me feel different and I isolated myself for a bit. If 22 year old me went back to elementary school, I'd do something and stand up for myself. I treated Jack like a normal older brother, he teased me, I ignored him, he'd run me over with his wheelchair, and we did the typical sibling things.  What helped you cope when you were growing up? When I met people, it helped me feel normal to withhold that I had a brother with a rare disorder so they could get to know me first. It helped me to gain power back. I also spent a lot of time by myself, learning who I was and learning that I didn't rely heavily on anyone else.  What boundaries did you have growing up to protect your mental health? Something that helped was accepting that it was okay to want to get away to be alone and separate myself from chaos. It was also common for me to reserve medical talk for only when it was necessary. I did my best to remind myself that it was okay not to fit into a sibling mold and feel what I needed to feel. What effect has growing up with Jack had on you as an adult? I gained patience for myself and others and empathy through caring for other people. I find myself to be an empath and feel a lot of what other people feel, mostly because I could never feel what Jack and I always want to get into other people's shoes and understand who they are. I still care too much about what others think about me. LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Episode 090 - Mental Health and chronic stress with Rare Disease Dad and Psychologist Al Freedman, Ph.D https://www.bloodstreammedia.com/once-upon-a-gene-episodes/episode-090-mental-health-and-chronic-stress-with-rare-disease-dad-and-psychologist-al-freedman-phd NORD https://rarediseases.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 TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 147 A Rare Collection - Easier Said Than Done 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 Katie Stevens, Executive Director of Team Telomere It's back to school season which has me thinking about how the education system so often fails the most vulnerable children. In 2015, we moved from Idaho to Boston. My son was set to be the sixth patient in the world to undergo a clinical trial for people with Telomere Biology Disorders. We had been searching for the best treatment for my son for years. His body was no longer able to fight viruses and infections, he couldn't stop bleeding and he didn't have enough red blood cells to keep him from feeling easily winded. He was a 12 year old boy whose day-to-day was filled with worry and he just wanted to be "normal". Getting your child an education when critically ill or disabled is easier said than done. I'm thankful for the teachers that stood up for my child. Education for the most vulnerable children of our society shouldn't be dismissed.  Parvathy Krishnan, Foundation Alliance Manager at Global Genes As a child I was always told nothing was impossible and everything would be okay if I saw the positive. I truly believed the ups and downs of life were part of the journey and I just had to see the positive. When I had my first child, I had my parenting journey mapped out and anticipated ups and downs. It was instead filled with potholes, car crashes and train wrecks. It was hard to see the positive when everything seemed bleak. Through our diagnostic odyssey, and through various aggressive treatments taking place concurrently for both of my children, it was hard to find the positive and I felt like I was failing. Hope was a mirage. I felt a medical breakthrough was the only positive that would give me closure. But I was wrong. A smile from my children was the positive I needed. While it's easier said than done to find the positive, even when it feels impossible, remember to turn on the light and hope that this too shall pass.  Becky Tilley, Koolen De Vries Syndrome I'm a passionate writer and advocate. In all the articles and blogs I've written, you'll see the common sentiment to celebrate your uniqueness, be yourself, and enjoy being you. In real life, that's challenging to do. The symptoms of Koolen De Vries Syndrome that myself and my two youngest children share can vary from mild, to moderate, to severe. I grew up with learning disabilities. I was an easy target for bullies. I never learned what it was to love and celebrate what made me different and this is something I want for my children. I want them to be empowered in who they are. For them to do that, I need to be an example, especially as a mom that shares the same syndrome. I feel a responsibility to them to celebrate being unique and inspire my children to do the same. 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 146 When Your Career and Personal Life Collide - VP of Medical and Science Strategy and Head of Syneos Health's Rare Disease Consortium FSHD Rare Dad - Raymond Huml Ray Huml and his wife have two kids with Facioscapulohumeral Muscular Dystrophy (FSHD). He's an author, Vice President of Medical and Scientific Strategy and Head of the Rare Disease Consortium at Syneos Health Clinical Solutions. EPISODE HIGHLIGHTS As a family, how do you navigate metal health? We've decided as a family to take what's not good and make it good. We reach out to the professionals we need to for mental and physical health. My dad used to say we're all composed of body, mind and spirit and they're all interwoven, so you have to address all aspects.  How do you find patients to participate in clinical trials? There has to be a compelling argument for why a person should participate in a clinical trial. I lobby heavily in the FSHD Society to develop ICD-10 codes for Muscular Dystrophy, including FSHD, so patients can be tracked. That provides a digital footprint of identifiable patients with a diagnosis. With HIPPA rules, you can't contact patients directly, but the data can be used to know how many patients there are.  What advice do you have for patient advocacy groups to get ICD-10 codes approved? Be persistent and advocate for each rare disease individually so it's more easily differentiated and tracked. How have things changed for you as a caregiver as your children have grown into adults and gone away to college? We've changed our life in order to support them, traveling often to help how we can, encouraging them and staying connected.  CONNECT WITH RAY Email: raymondhuml@gmail.com or raymond.huml@syneoshealth.com LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ FHSD Society  https://www.fshdsociety.org/ Accelerating Rare Disease Drug Development: Lessons Learned from Muscular Dystrophy Patient Advocacy Groups https://link.springer.com/article/10.1007/s43441-020-00221-4 Parent Project Muscular Dystrophy https://www.parentprojectmd.org/ Accelerating Rare Disease Research by Listening to the Patient Voice https://www.syneoshealth.com/insights-hub/incorporating-the-patient-voice-into-the-rare-disease-drug-development-paradigm Muscular Dystrophy Association https://www.mda.org/ Books by Raymond Huml https://www.amazon.com/s?i=stripbooks&rh=p_27%3ARaymond+A.+Huml&s=relevancerank&text=Raymond+A.+Huml&ref=dp_byline_sr_book_1 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/

ONCE UPON A GENE - EPISODE 145 Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad Shazia Ahmad is the Senior Director and Head of Patient and Physician Services at UBC. She earned a BS in physiology and neurobiology from the University of Maryland and has over 20 years of experience in the therapeutic development industry.  EPISODE HIGHLIGHTS Can you talk about your work designing clinical trials? I started my career at the NIH as a Research Coordinator and that's where my work in rare diseases and infectious disease started. I worked closely with patients, parents, caregivers, and care partners. At UBC I've been involved in heading up the patient services division which handles patient advocacy and stakeholder engagement. What invigorates my passion for the rare disease space is my own personal journey. I have a daughter with Kawasaki disease (KD). Because we received a diagnosis in a timely way before going into phase two of KD, we were able to get treatment for her to recover completely. It left a mark on me in my career moving forward to focus on integrating advocacy and understanding the patient journey, and the impact on the families in any program that I would support in healthcare moving forward.  Why should families seek out clinical trials? I think it's so important for families to understand the impact that their participation could make in participating in clinical trials because it's hope and a possible treatment. But most importantly, it's helping the overall patient community for that particular diagnosis, which is huge and it's critical.  What transformational changes are you seeing around designing trials and gathering a more diverse population?  As I work on clinical trials, I'm seeing more advocacy organizations partnering with the industry and making an impact early on. I'm also seeing a lot of the new technologies coming out for improving diagnosis, creating more communication, education and awareness about rare diseases in general, not just clinical trials. There's a lot of good collaboration going on within patient communities.  What are the gaps with industry right now and how do we bridge that with advocacy?  Industry is starting to do a better job in understanding the journey and bringing that into design and implementation. What often happens is they complete the clinical trial and sometimes that awareness and continuous conversation with that patient community is not ongoing. We need more community building within industry to keep those communities engaged and there are gaps there. We also need more sponsors to work together. There's so much that we could do if we really conquer some of these rare diseases together and come together as a community to create a bridge where we can learn from each other.  LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ UBC https://ubc.com/ Shazia Ahmad - Linkedin https://www.linkedin.com/in/shaziakahmad 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 144 Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman Gay Grossman is the co-founder of ADCY5.org and she's a mom to her 25 year old daughter Lilly who lives with a rare disease. She's been an advocate for everyone in the rare disease community for over 20 years. She shares her knowledge with us about IEP's and how to be the fiercest, most equipped advocates we can be. EPISODE HIGHLIGHTS What is the difference between 504 and IEP? A 504 is the plan utilized to help kids that may need adaptations or accommodations in the classroom. An IEP is a federal document that has to be followed by school districts that provides individual support to a single child. An IEP is changed yearly and often to ensure a child has the accommodations needed to access their education.  How can parents prepare for and restructure IEP meetings?  Several people will be there and the first step is generally to go around the room reading reports about a child's diagnosis and challenges. Ahead of the meeting, request that all reports are provided a week before the meeting so you can create an agenda. Read the reports at home and create an agenda that begins with an overview of top needs and how to meet those needs.  Who writes an IEP and what should parents know about it? The IEP is written by the school. Take the IEP home, review it and ensure you understand it before you sign it. An IEP is a legal contract, so it's important to document, take good notes, communicate through email, and cover yourself. You can call an IEP meeting any time of year, but avoid the end of the school year to maximize time and attention. It's okay to hire an advocate or attorney or invite a friend to be in attendance at the meetings.  What advice do you have for parents going into their first IEP? If a goal doesn't seem measurable, it's not a goal you care about, or it's not a goal your child strives for, make a new goal. Focus on highlighting goals that are helpful so you can change goals that aren't helpful. Request a meeting with the school, visit the classroom to familiarize yourself, ensure the goals that you've prioritized are obtainable.  LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Individuals with Disabilities Education Act (IDEA) https://sites.ed.gov/idea/ ADCY5.org https://www.adcy5.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 TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 148 A Rare Collection - I Will Never Forget 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 Elli Brimble As a researcher and genetic counselor, I work behind the scenes to help families craft their own stories. I met Nasha Fitter in 2016 when her daughter developed infantile spasms during a family vacation, resulting in an emergency flight home and hospitalization. The response to treatment was immediate, but an epilepsy gene panel result revealed that the spasms were caused by a change in one copy of the FOXG1 gene. Weeks later, Nasha and I would start corresponding about what resulted in a foundation dedicated to funding science and research for FOXG1 syndrome. Nasha quickly became an expert in biology, clinical trial readiness, drug development and fundraising. Today, Nasha and I work as partners, championing the product we built through this shared experience and all the ones that came after.  Kira Dineen As a graduate student, studying to become a genetic counselor, I met a couple I will never forget that widened my perspective on rare diseases. In a prenatal setting, we're reviewing family health history and the mother of that baby shares that her biological niece has a rare disorder. The mother wanted to test her baby for the rare disorder her niece had and the father didn't want to do testing during pregnancy. The father highlighted how much joy the niece brought to the family and that he would want to have a child with the same disorder. As a student, it was a turning point to talk to someone who had such a positive and rewarding relationship with someone with a rare disease. I want to see more celebrations of rare diseases like this couple shared with me. Abigail Turnwald I'll never forget receiving the first positive genetic test result during graduate school. Just as the parents, I really hoped it would be negative and when I saw the positive result, my heart sank. I dialed their phone number, listened to the rings and hoped they didn't answer because I didn't want to deliver the news. I practiced what to say to make sure I had the words just right. I learned in graduate school that when you give a diagnosis, families will remember the words you said forever. This was the first diagnosis I gave and I will never forget. Some days I still think of the family and wonder if I said the right words and what would have made receiving the news easier. I know when I deliver a diagnosis, lives are forever changed and parents will never forget that moment, and neither will I. 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 - EPISODE 232 Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC Abby Turnwald is a genetic counselor here to talk about genetic testing and the crucial role genetic counselors play in guiding families through the complexity of genetic testing and understanding the results. We'll discuss what parents can expect for their first appointment, the importance of seeking a referral, tips for navigating insurance coverage and the significance of re-analyzing genetic reports.  EPISODE HIGHLIGHTS What is genetic testing and what does the first appointment involve? Genetic counseling appointments are for a specific reason, condition, or symptom and can be with just a genetic counselor or with a genetic counselor and a geneticist, which is a physician. A genetic counselor will gather intake information about your child's medical history, family history and developmental history. They will also discuss genetic testing options and answer any questions you may have. Depending on insurance, sometimes genetic testing will happen at the first appointment, and sometimes it will require prior authorization. A physician may do a physical exam and work closely with the geneticist to determine the best plan for your child.  Why is it important for parents to consider doing genetic testing? There's a lot more to a diagnosis because there's likely a genetic cause. Finding a genetic cause can be helpful in parents not holding onto any guilt they may feel. It can also open you up to a community for specific conditions where other parents are actively advocating for their children. Other genetic conditions may have health conditions parents may not know about, so it's important to know. Genetic testing can tell you the recurrence risk if parents are considering growing their family. Even if we don't find a genetic answer, it rules out a lot of other genetic conditions and that can be helpful for your care team.  Can you talk about the barriers to genetic testing and how to overcome them? The biggest barrier is the wait time to get to genetic testing after you have a referral. It's often about a year, but go ahead and schedule it and look for other places you may be able to go. You can also ask your provider to order genetic testing before you see genetics. If your doctor doesn't think genetic testing is necessary, ask for the referral anyways. Genetic testing should be for anyone who has symptoms that are unexplained. Most insurance covers genetic testing now, but if a claim is denied it can be appealed. There are also more and more labs offering sponsored genetic testing if your child meets certain criteria.  LINKS AND RESOURCES MENTIONED Project Findout https://projectfindout.org/ Probably Genetic https://www.probablygenetic.com/ CTNNB1 Connect & Cure https://curectnnb1.org/ NSGC Find A Counselor Directory https://findageneticcounselor.nsgc.org/ Follow Abby Turnwald on Instagram https://www.instagram.com/pedsgcabby/ 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 142 Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza Yosr Hamza is a lawyer, caregiver, and mom and she joins us to talk about what it's like to be a parent to a child with a rare disease in the Middle East, where rare disease isn't as accepted or normalized.  EPISODE HIGHLIGHTS How have you navigated having a child with a rare disease and discovered your powerful voice to embrace your child? For an entire year, I didn't share my secret that my son had a rare disease outside of my family.  I was my own judge and was scared of anyone judging my capability to work and manage everything. I had to embrace it on my own first before I could grow stronger and move past wanting to hide something that makes me who I am. I now see it from the perspective that if someone can't embrace it, that's on them, not me. I wouldn't be able to embrace my own diversity and be my most authentic self without going through what I have with my child and his journey.  What tools and resources helped you to move through the initial emotions after your child was born? One thing I've learned through my journey is to really feel every feeling. I no longer fight back sadness, when I'm down, when I can't do something. It can take a day or two sometimes, but the importance is recognizing when I need to take a break and take time to care for myself. If you're not okay, you can't care for anyone else. I learned that I don't delegate well, but I eventually learned to recognize who was around me, willing to support me and I prepared ideas of things I was able to delegate. It's also been important for me to keep an open mind and not decide in advance what my journey should look like. Being very career oriented, having a plan for myself, it was difficult to realize that I no longer need to win, but I just have to stay in the race.  As a caregiver, what are your goals for yourself and your child? I hope to have a space for caregivers and children like my son in my region. It's unfortunate that there are no resources and we have to fight for everything. There are no nurseries or schools and it creates a need for support. The help and resources are not here and the government isn't investing in it. I'm being vocal about this to hopefully inspire other parents to speak out. I hope by sharing my story, I can connect with someone who can help me make a change and create a voice for caregivers.  LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Mejo https://www.mymejo.com/ The Caregiver Lawyer on Instagram https://www.instagram.com/thecaregiverlawyer/channel/?hl=en 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/

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/

Intro music by Scott Holmes

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/

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/

Intro music by Scott Holmes

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/

ONCE UPON A GENE - EPISODE 137 Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals Chris Peetz is the CEO of Mirum Pharmaceuticals, a pharmaceutical company focused on rare liver diseases. They work closely with patients and advocacy groups and have genuine connections which reinforces their sense of urgency to create treatments for liver-related diseases and help to make lives better.  EPISODE HIGHLIGHTS How was Mirum founded? Our current programs include two different medicines. LIVMARLI (maralixibat) is for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) and another is currently in development for other liver conditions. These programs were being developed by a larger company who decided not to work further on the program. Our co-founder had a relationship with families involved with the clinical studies of maralixibat and, upon seeing how good the patients were doing, decided to start the company and get the program back on course.  What does LIVMARLI do and what symptoms does it treat for Alagille patients? LIVMARLI is an oral liquid medicine that blocks the absorption of bile acids in the GI tract. In clinical studies, we've seen the itch that patients experience improves.  How do you decide what rare diseases to focus on and what's in the Mirum pipeline? We're currently focused on broadening access to LIVMARLI for ALGS patients and taking what we've learned and applying it to other liver diseases that have similar issues with bile acids.  How can rare disease advocacy groups help to push to get treatments approved? The impact patient groups have in working through the regulatory process is massive. They play a big role in providing a voice and awareness to help educate regulators. Patient groups do a lot to educate regulators, but also researchers so they can better understand the complex aspects of a rare disease. LINKS & RESOURCES MENTIONED Once Upon a Gene TV https://www.thedisordercollection.com/ ONCE UPON A GENE - EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome Mirum Pharmaceuticals https://mirumpharma.com/ Mirum Access Plus https://www.livmarli.com/ The Alagille Syndrome Alliance https://alagille.org/ ClinicalTrials https://clinicaltrials.gov/ 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 136 The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy Jessie Cline is the Founder of Climb Intensive Pediatric Therapy and Erin Garrison is a Physical Therapist. Sometimes when you need something done (or always in the world of rare disease) you have to do it yourself. Together, Jessie and Erin have joined forces to offer physical therapy and dynamic movement intervention (DMI) services to children to help them reach therapeutic goals quicker than through typical therapeutic interventions. Climb Intensive Pediatric Therapy is the first and only pediatric therapy clinic in Tennessee to offer DMI therapy services. EPISODE HIGHLIGHTS What inspired you to take Crew's early intervention therapy to an intensive level of therapy? The early intervention model is to train, educate and equip parents.Crew was responsive to the therapy he was receiving and needed the intensive therapy to jump start and boost his therapy progress so we could further build on that. What is the science behind intensive therapy? Intensive therapy is two to three hours of therapy everyday, five days a week, for several weeks at a time. When you work through therapy at that intense level, while it's hard, you see more drastic results sooner. The brain is challenged by repetition and stimulated to open up new neuro pathways. What inspired you to open Climb Intensive Pediatric Therapy? When I was with Crew at LEAP Pediatric Physical Therapy, there was a sense of community and it was a safe space to allow kids to interact. When I returned to Tennessee, Erin and I began collaborating on how we could create that same community here with the best experience and care for kids and their parents. What services does Climb Intensive Pediatric Therapy offer? We currently offer DMI therapy services and physical therapy. We're hoping to also add speech therapy, feeding therapy and occupational therapy services soon. CONNECT WITH CLIMB Website https://www.climbintensive.com/ Facebook https://www.facebook.com/Climb-Intensive-Pediatric-Therapy-101004829103700 Instagram https://www.instagram.com/climb_intensive_peds_therapy/ LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K LEAP Pediatric Physical Therapy https://www.leappedtherapy.com/ NAPA Center https://napacenter.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 - EPISODE 135 A Rare Collection - Up at Night 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 Mike Gralia, Dad to Tony and Founder of the Syngap Research Fund Mike recalls the nights insomnia kept him awake, looking at Tony as he rested, and wondering what his life would hold. In the darkness of night, his fears had the freedom to emerge. Tony wouldn't sleep without hours of walking the hall, singing and rocking. Then he'd wake up in the middle of the night crying. Mike and his wife had demanding jobs and the lack of sleep took its toll. When he was three years old, Tony began having seizures and he was diagnosed within a year with SynGAP1, which causes major sleep disturbances. Each day as the sun sets, Mike knows he's going to watch the rerun of a series he knows all too well.  Jennifer Sills, Mom to Jules and Founder of CSNK2A1 Foundation Jules, who has Okur-Chung Neurodevelopmental Syndrome (OCNDS), suffers from a severely disrupted sleep pattern. Jennifer shares of her loneliest nights, staring at the computer, searching for answers for Jules and an explanation for her symptoms. After Jules was diagnosed, the late night internet searches continued and revealed there were no OCNDS resources. Now, the nights aren't as lonely, as Jennifer has discovered over 190 families affected by OCNDS worldwide. She finds comfort in her community and knows she's not the only parent suffering from crushing fatigue. She finds comfort in reflecting on all that Jules has taught her about having purpose and perspective. Charlene Son Rigby, Mom to Juno and Founder of STXBP1 Foundation As a night owl in college, Charlene spent countless hours hanging out with friends. After college, being a night owl leant itself well to life in the startup world. She prided herself on only sleeping 5 to 6 hours a night with so much to do. After having kids, nights became quiet and peaceful, a time to focus on projects and creative work. When her daughter Juno was diagnosed with STXBP1 disorder, her nights turned into hours of worry and researching medical papers. Nights were driven by urgency to help Juno and driven by fear for her future. But nights were also driven by optimism and a belief that science could and would help.  Sunita Malepati, CACNA1A Foundation Sunita was told when she had her first child, sleep when the baby sleeps, but she was never good at taking that advice. Sunita pulls a second shift, staying up late, trying to figure out how to cure her daughter's rare disease, a CACNA1A-related disorder. After receiving a diagnosis, Sunita turned her grief and despair into hope and action. The CACNA1A Foundation became her second shift. As a rare disease patient advocacy organization, the foundation is focused on finding treatments and cures for the CACNA1A community by building a collaborative network of patients, families, clinicians and scientists.  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/

Intro music by Scott Holmes