Podcasts about foxg1

On this episode, Tania Simoncelli (Vice President, Translational Impact and Engagement, Chan Zuckerberg Initiative) and Nasha Fitter (Co-founder & CBO, Citizen Health and Co-founder & CEO, FOXG1 Research Foundation) join forces to discuss how rare disease patient advocacy has transformed over time and how the biopharmaceutical industry should adapt to better meet the needs of today's patients. They dive deeper into the evolution of rare disease patient advocacy groups, why industry must move beyond the hyperfocus on “blockbuster drugs” to make progress in rare disease research, and how advancements in rare disease treatments can benefit the clinical research ecosystem for all.

Dr. Jeanine Cook-Garard meets Scott Reich, a father from Port Washington who had to face the horrible news that his very young son, Eli, was diagnosed with a rare neurological condition that severely impacts the brain called FOXG1 Syndrome – a devastating condition caused by a mutation in the FOXG1 gene that reduces the amount of a protein critical for brain development. There's no cure. There are no clinical trials. Existing research is limited.  This is why Scott created Believe In a Cure, a non-profit foundation that is working relentlessly to find and fund a cure for FOXG1 Syndrome.

Intrattenimento e informazione, musica e cultura: tutto questo è Radio Vaticana con Voi! Anche oggi 4 ore insieme per iniziare la giornata con numerosi ospiti! Protagonisti gli ascoltatori, come ogni giorno! Intervieni in diretta tramite WhatsApp al numero 335 1243 722 Gli ospiti di oggi in ordine di presenza: Maurizio Carrara, cofondatore e attualmente presidente onorario del CESVI; Luca Steffensen , presidente associazione FOXG1; fra Charbel Boustany , francescano dell'Immacolata, tra gli ideatori dell'App “Rome Pilgrim”; padre Daniele Moschetti, comboniano, missionario a Castel Volturno fra' Umberto Fanfarillo, parroco di santa Dorotea a Roma; Alessandro Guarracino, priore dell'Arciconfraternita di Sant'Antonio di Padova; Claudia Koll, attrice, regista e scrittrice, presenta il suo nuovo libro "Qualcosa di me". Conducono Andrea De Angelis e Stefania Ferretti A cura di Andrea De Angelis e Stefania Ferretti Hanno collaborato le colleghe ed i colleghi Silvia Giovanrosa, Paola Simonetti, Roberta Barbi, Robert Attarian, Giada Aquilino e Lorena Leonardi Tecnici del suono Daniele Giorgi e Alberto Giovannetti

When life turns out differently, it's all about how you perceive it. For our friend, Raquel Moore (who you may remember from our season of The Amazing Race) life has turned out very differently than she expected. She never thought she'd meet the love of her life. She never thought she'd live in the suburbs of Cleveland. She never thought she'd be a mother to a wonderful little boy, Nico, who has a rare genetic disorder called FOXG1 Syndrome. We asked Raquel to come on the show to talk more about a recent post she made on Instagram. In the post, she gave advice to parents with special needs children. (Advice that I think can apply to all parents and life in general.) Penn, Raquel, and I talk more about her outlook on this journey as well as our time together on The Amazing Race. (We are so lucky to have a friend like Raquel in our lives.) FOXG1 is still being researched and studied to find a cure. If you feel compelled to donate, you can do so with the FOXG1 Research Foundation. You can learn more about Raquel's mindset & accountability coaching business, where she also helps parents who have children with special needs here: https://www.theraquelmoore.com/ Learn more about our Summer Book Club for ADHD Is Awesome: https://theholdernessfamily.com/adhdbookclub/Come see us at Quail Ridge Books: https://www.quailridgebooks.com/event/pennkimholderness24Shop Our MerchJoin Our NewsletterFollow us on YouTubeFollow us on InstagramFollow us on TikTok Follow us on FacebookKim and Penn are online content creators known for their award-winning videos, including original music, song parodies, and comedy sketches. Their videos have resulted in over 2 billion views and 8 million followers across their social media platforms since they (accidentally) went viral in 2013. They have a best-selling book on marriage communication, a top-rated podcast, a fun-filled family card game, and most recently, they were the winners on Season 33 of The Amazing Race.The Holderness Family Podcast is produced by Ann Marie Taepke and edited and engineered by Max Trujillo of Trujillo Media and Sam Allen. Hosted on Acast. See acast.com/privacy for more information.

Being the parent of a child with an ultra-rare disease can be a daunting challenge.Nasha Fitter is no different. Her daughter Amara is nonverbal and suffers from epileptic seizures, two of the common symptoms associated with her eventual diagnosis of an ultra-rare neurodevelopmental disorder known as FOXG1 Syndrome. Motivated by her desire to learn more about this condition, she co-founded the FOXG1 Research Foundation (FRF) with her fellow peers.Through all the challenges they've faced, Nasha and FRF are set to conduct critical research in the hopes of developing a treatment for not just this condition, but other ultra-rare diseases primarily affecting children to eventually give them “the life they deserve.”Join us as we conclude season five where Nasha discusses the origins of FRF, how Amara's life has been shaped by her diagnosis, how collaboration has helped advance the Foundation's mission, and what you can do to support their ultimate goals.Show NotesFOXG1 Research Foundation FOXG1 Research Foundation's Nasha Fitter Speaks at the White House Rare Disease Forum Rare Disease | Charles River CRISPR/Cas9 Gene Editing | Charles River ASO Screening and Profiling 

In this episode of the Epigenetics Podcast, we talked with James Hackett from the EMBL in Rome about his work on epigenetic mechanisms in genome regulation and developmental programming. One of James Hackett's significant studies focused on DNA methylation and genome defense mechanisms in the germline, exploring the role of chromatin modifications in mammalian gene regulation. He delves into investigating the erasure of DNA methylation in the germline, highlighting the key role of the TET-enzymes in demethylation processes. Dr. Hackett shares insights from his research on pluripotent stem cells, where he mapped genome-wide DNA methylation and hydroxymethylation in different pluripotent states. He discusses the impact of extrinsic conditions on pluripotent states and the biases observed in lineage preferences. Furthermore, the discussion delves into the development of a CRISPR screening tool to study cell fate transitions, particularly focusing on the genetic factors contributing to germline specification. He also talks about his work on epigenetic inheritance, highlighting the importance of precise perturbations in understanding chromatin modifications and their functional implications. In a recent study, the Hackett lab focuses on systematic epigenome editing to investigate the context-dependent functions of chromatin modifications. We hear about this work, and the complexity of interactions between chromatin marks, DNA sequences, and transcription factors, shedding light on the nuanced effects of various chromatin modifications on gene expression.   References Hackett JA, Reddington JP, Nestor CE, et al. Promoter DNA methylation couples genome-defence mechanisms to epigenetic reprogramming in the mouse germline. Development (Cambridge, England). 2012 Oct;139(19):3623-3632. DOI: 10.1242/dev.081661. PMID: 22949617; PMCID: PMC3436114. Hackett JA, Sengupta R, Zylicz JJ, et al. Germline DNA demethylation dynamics and imprint erasure through 5-hydroxymethylcytosine. Science (New York, N.Y.). 2013 Jan;339(6118):448-452. DOI: 10.1126/science.1229277. PMID: 23223451; PMCID: PMC3847602. Hackett JA, Kobayashi T, Dietmann S, Surani MA. Activation of Lineage Regulators and Transposable Elements across a Pluripotent Spectrum. Stem Cell Reports. 2017 Jun;8(6):1645-1658. DOI: 10.1016/j.stemcr.2017.05.014. PMID: 28591649; PMCID: PMC5470235. Hackett JA, Huang Y, Günesdogan U, et al. Tracing the transitions from pluripotency to germ cell fate with CRISPR screening. Nature Communications. 2018 Oct;9(1):4292. DOI: 10.1038/s41467-018-06230-0. PMID: 30327475; PMCID: PMC6191455.   Related Episodes Epigenetic and Metabolic Regulation of Early Development (Jan Żylicz) H3K79 Methylation, DOT1L, and FOXG1 in Neural Development (Tanja Vogel) The Impact of Chromatin Modifiers on Disease Development and Progression (Capucine van Rechem)     Contact Epigenetics Podcast on X Epigenetics Podcast on Instagram Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Epigenetics Podcast on Threads Active Motif on X Active Motif on LinkedIn Email: podcast@activemotif.com

JOIN SRF LT on Thursday: Volunteer Info session with Leadership Team is this week:  https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.   MDBR is 3 weeks away! https://Syngap.Fund/Unite   $5k match https://x.com/phalliburton/status/1792288377049415835   It's all about therapies.  Precision Genetic and Repurposed.   Conferences are where we engage professional communities around SYNGAP1 & SRF.  - Last week I was at Milken Global.  All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program  - This week I was at the #Ultragenyx Bootcamp with our CSO https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role.  - ASGCT was last week and that means announcements…  - Kathryn and I are off to BIO in June in San Diego.   Ionis for Angelman https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX  Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y  Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO  Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ   Repurposed therapies are just as important.   Cost effective.  Globally available. They are here now.  We must act, the suffering is immense. They show us what is improvable and therefore inform clinical trial design. They are not compromising other trials.  And to even suggest that is unethical if it suggests people should hold off on helping patients.  How about we just diagnose more kids?  Or think harder about which kids go to which trials? Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.   Review of repurposed drugs: RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction.  I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here. NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx.  I am hopeful that some researcher does an investigator led trial.  But until then, ask your Neuro. ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action.  Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating.  Please share data with us if you are trying.  We are collecting case studies for Update 3.  Thank you to the team here.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,010 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 9,900 Twitter https://twitter.com/cureSYNGAP1  - 3,560 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 141 of #Syngap10 - May 20, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

On this episode of Raising Rare we talk with Megan Nolan, a rare mama working to make a difference for other Rare Families. Megan has launched the online magazine Rareparenting.com in an effort to provide rare families with resources that may be beneficial to them. Like so many other rare families, Megan has experienced the trials and tribulations of the healthcare system and how important it can be to move to the right location. She and her husband decided to use their skills and resources to build The Children's Rare Disorders Fund (https://www.thecrdfund.org/) to help support R&D. She wants the fund to help small disease organizations work together and reduce duplication of effort. Listen along as our hosts discuss the different obstacles she has faced and why certain aspects of her son's journey with FOXG1 have taken so long.Mentioned in this episode:Invitation to Check Out The AtlasThe Atlas

This week we are talking about a rare condition, FOXG1.  This  syndrome is a rare genetic neurodevelopmental disorder caused by a mutation in the FOXG1 gene. FOXG1 gene is one of the first and most important genes for early brain development and when impaired, causes cognitive and physical disabilities as well as medical complexities including epilepsy. Every child born with FOXG1 syndrome is unique as FOXG1 manifests as a spectrum where symptoms and severity vary between individuals. Our patient data shows characteristics of children with FOXG1 syndrome include: nonverbal, non-ambulatory, experience seizures, feeding problems, cortical vision impairment, movement disorders, and developmental delays. Less-severely-affected FOXG1 children often present with (ASD) Autism Spectrum Disorder as FOXG1 is an autism related gene. FOXG1 syndrome is found equally among both females and males and is geographically more prevalent where diagnostic testing is more advanced. (credits: The FoxG1 Foundation) Our guest is a mother to a child with FoxG1, Ilissa Reich.  Ilissa is a former fashion executive who transformed her career into being a fierce advocate for families of children with special needs. When her now-3-year-old son, Eli, was diagnosed with FOXG1 Syndrome, a rare brain disorder with no cure, she spun into action and co-founded Believe in a Cure (webelieveinacure.org), a 501(c)(3) non-profit foundation working to develop a treatment for FOXG1. Founded in 2019, Believe has raised millions of dollars and funded over 40 research and development projects around the world. long the way, the foundation has partnered with preeminent institutions ranging from the National Institutes of Health to Harvard, MIT, and Tel Aviv University, to biotechnology companies in Europe, Asia, and the United States. ​Renowned scientists from industry and academia serve on the scientific advisory board of the foundation, and several notable leaders serve on the foundation's lay advisory council, including former U.S. senators Joe Lieberman and Paul Kirk, the former CEO of Staples Ron Sargent, mediation czar Ken Feinberg, and many more. This journey has opened Ilissa's eyes to the experiences of countless other families who struggle each day, and despite her own anguish, Ilissa endeavored to create a platform for mothers of kids with special needs to build community and offer support. ​She has appeared on the Today show, in People magazine, and a host of other outlets profiling her efforts. A native Long Islander, Ilissa previously worked in fashion at notable brands Tibi, Free People, Splendid, and Alternative Apparel. She studied business in college at The George Washington University. She lives in Port Washington with her husband, Scott, and their three children. ​ When asked: 'What has enabled you to be successful?' she responded- “I always aspire to be a good role model for my children. I want to be someone they're proud of.”

In this episode of the Epigenetics Podcast, we talked with Tanja Vogel from the University Clinics Freiburg about her work on epigenetic modifications in stem cells during central nervous system development. During our discussion, Dr. Vogel shared that she and her team have investigated H3K79 methylation and its functional significance, which remains a topic of debate in the scientific community. They've also investigated the role of DOT1L in neural development and its implications for neuronal networks, as disrupting DOT1L can lead to conditions such as epilepsy and schizophrenia. They explored the function of the SOX2 enhancer in the presence or absence of DOT1L enzymatic inhibition. The conversation then shifts to FoxG1, a vital player in forebrain development. The team uncovered its role in chromatin accessibility and its connection to microRNA processing. Their study, utilizing ChIP-Seq, reveals FoxG1's interactions with enhancer regions and other transcription factors, like NeuroD1.   ### References Britanova, O., de Juan Romero, C., Cheung, A., Kwan, K. Y., Schwark, M., Gyorgy, A., Vogel, T., Akopov, S., Mitkovski, M., Agoston, D., Sestan, N., Molnár, Z., & Tarabykin, V. (2008). Satb2 is a postmitotic determinant for upper-layer neuron specification in the neocortex. Neuron, 57(3), 378–392. https://doi.org/10.1016/j.neuron.2007.12.028 Büttner, N., Johnsen, S. A., Kügler, S., & Vogel, T. (2010). Af9/Mllt3 interferes with Tbr1 expression through epigenetic modification of histone H3K79 during development of the cerebral cortex. Proceedings of the National Academy of Sciences of the United States of America, 107(15), 7042–7047. https://doi.org/10.1073/pnas.0912041107 Franz, H., Villarreal, A., Heidrich, S., Videm, P., Kilpert, F., Mestres, I., Calegari, F., Backofen, R., Manke, T., & Vogel, T. (2019). DOT1L promotes progenitor proliferation and primes neuronal layer identity in the developing cerebral cortex. Nucleic acids research, 47(1), 168–183. https://doi.org/10.1093/nar/gky953 Ferrari, F., Arrigoni, L., Franz, H., Izzo, A., Butenko, L., Trompouki, E., Vogel, T., & Manke, T. (2020). DOT1L-mediated murine neuronal differentiation associates with H3K79me2 accumulation and preserves SOX2-enhancer accessibility. Nature communications, 11(1), 5200. https://doi.org/10.1038/s41467-020-19001-7 Akol, I., Izzo, A., Gather, F., Strack, S., Heidrich, S., Ó hAilín, D., Villarreal, A., Hacker, C., Rauleac, T., Bella, C., Fischer, A., Manke, T., & Vogel, T. (2023). Multimodal epigenetic changes and altered NEUROD1 chromatin binding in the mouse hippocampus underlie FOXG1 syndrome. Proceedings of the National Academy of Sciences of the United States of America, 120(2), e2122467120. https://doi.org/10.1073/pnas.2122467120   Related Episodes Molecular Mechanisms of Chromatin Modifying Enzymes (Karim-Jean Armache)   Contact Epigenetics Podcast on Twitter Epigenetics Podcast on Instagram Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Active Motif on Twitter Active Motif on LinkedIn Email: podcast@activemotif.com

Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using real-world evidence, machine learning, AI, and genetic testing are showing a path to finding a treatment.  Nasha explains, "My daughter, Amara, was diagnosed at nine months of age. She began having hundreds of seizures a day. And at that point, there was information known about the FOXG1 gene. It's a really important gene for brain development. But no one was studying the syndrome and how to find a cure for it. So, I and a group of other parents, like-minded parents who, refused to just take that this is the way it is. Our children have this condition, and that's it. We started this foundation." "We've done a lot of work to get the entire world of FOXG1 to work together and then to collect patient data. That leads to my work at Ciitizen, to have all patients join the same platform, take the same surveys, and collect electronic medical records. We extract their data, so it's all on one platform. Again, that helps us understand this disease, which is critical when the population's so small." "In-person studies, which is how we collect data today, as the medical community, don't work for ultra-rare diseases. So we have to find other ways. And that's where real-world evidence comes in."  "We use machine learning and AI at Ciitizen when we're looking at something as simple as extracting data from an unstructured medical record. When you look in medical records, the part that's really interesting is the clinic notes, and they're totally unstructured. They're paragraphs. So can we start using machine learning and AI to go through these paragraphs and actually extract relevant data points to scale up our ability to understand how the disease has progressed?" #FOXG1 #FOXG1ResearchFoundation #Ciitizen #GeneTherapy #RealWorldEvidence #RareDisease #GeneticTesting FOXG1Research.org Ciitizen.com Download the transcript here

Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using real-world evidence, machine learning, AI, and genetic testing are showing a path to finding a treatment.  Nasha explains, "My daughter, Amara, was diagnosed at nine months of age. She began having hundreds of seizures a day. And at that point, there was information known about the FOXG1 gene. It's a really important gene for brain development. But no one was studying the syndrome and how to find a cure for it. So, I and a group of other parents, like-minded parents who, refused to just take that this is the way it is. Our children have this condition, and that's it. We started this foundation." "We've done a lot of work to get the entire world of FOXG1 to work together and then to collect patient data. That leads to my work at Ciitizen, to have all patients join the same platform, take the same surveys, and collect electronic medical records. We extract their data, so it's all on one platform. Again, that helps us understand this disease, which is critical when the population's so small." "In-person studies, which is how we collect data today, as the medical community, don't work for ultra-rare diseases. So we have to find other ways. And that's where real-world evidence comes in."  "We use machine learning and AI at Ciitizen when we're looking at something as simple as extracting data from an unstructured medical record. When you look in medical records, the part that's really interesting is the clinic notes, and they're totally unstructured. They're paragraphs. So can we start using machine learning and AI to go through these paragraphs and actually extract relevant data points to scale up our ability to understand how the disease has progressed?" #FOXG1 #FOXG1ResearchFoundation #Ciitizen #GeneTherapy #RealWorldEvidence #RareDisease #GeneticTesting FOXG1Research.org Ciitizen.com Listen to the podcast here

Nicole's storyNicole Johnson is the co-founder of the FOXG1 Research Foundation and the mother of 11-year Josie who suffers with a rare neurological condition, FOXG1 Syndrome. With more than two decades of experience in media and communications, Nicole serves as Executive Director overseeing every vertical across the organization. Nicole was a co-founder and Director of Communications for streaming music service, Qello Concerts, sold to Stingray in 2018. Prior, Nicole was a producer for CNN and NBC, and worked in Corporate Communications for several Fortune 500 companies. Nicole is also the creator and author of the "Joyfully Josie" children's book series and digital platform about disabilities and rare diseases. For more information, see her website: www.JoyfullyJosie.love. In Nicole's own words, “I always come back to the story … I have this vision of Josie in her dorm room one day, you know with her music posters on the wall…she's talking to her roommate, and she says you know I was born with this condition called FOXG1 Syndrome and it was really bad. And you know, my mom and a team of parents got together, and they started this work ... I don't have it anymore, and nobody does. And then they just carry on with their day. So that's my hope. And hope is too soft a word… that is my belief.” See below for more information on FOXG1: website:  www.foxg1research.orgWhat is FOXG1 syndrome: https://foxg1research.org/foxg1syndromeHelp support FOXG1 Research:  https://foxg1research.org/donate FOXG1 Research Foundation LinkedIn: https://www.linkedin.com/company/foxg1researchNicole Johnson LinkedIn: https://www.linkedin.com/in/nicole-johnson-foxg1/ Facebook: https://www.facebook.com/foxg1researchInstagram: https://www.instagram.com/foxg1research/YouTube Channel: https://www.youtube.com/channel/UCYuuje7VFvEu972bXtW-qDQ  

In this podcast episode, experts in Rett syndrome, David N. Lieberman, MD, PhD, and Jeffrey Neul, MD, PhD, provide a comprehensive overview of Rett syndrome (RTT), a rare but severe neurodevelopmental disorder. They begin with a discussion on the clinical characteristics and typical disease progression of RTT before diving into the various genetic markers and how they may, or may not, be used in the diagnosis and prognosis. Finally, the experts ponder the future of RTT diagnoses, touching upon how we might identify RTT and intervene earlier, potential utilization of biomarkers, and the role of measurement-based care.Presenters:David N. Lieberman MD, PhDInstructorDepartment of NeurologyHarvard Medical SchoolAttending PhysicianChild NeurologyBoston Children's HospitalBoston, MassachusettsJeffrey Neul MD, PhDDirectorPediatricsVanderbilt University Medical CenterNashville, TennesseeThis activity is supported by educational funding provided by Acadia Pharmaceuticals Inc.To claim CME/CE credit for this podcast, complete the posttest here:https://bit.ly/3WjtMjAFor additional activities in this program, visit:https://bit.ly/3kfAn0U

ONCE UPON A GENE - EPISODE 163 How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson FOXG1 Research Foundation Co-Founder and rare mom, Nicole Johnson, shares takeaways from the November FOXG1 Syndrome Science Symposium & Parents Conference.  EPISODE HIGHLIGHTS Can you tell us about your daughter Josie and about starting the FOXG1 Foundation? Josie is 11 years old and she is the cutest little girl. She's amazing in that she has FOXG1 syndrome and can't do much, and yet she's the happiest, most joyful little girl and I feel blessed to have her in my world. My mission is to give Josie and every child with FOXG1 syndrome the healthy life they deserve. On the diagnostic journey, I was blogging and that's how I met Nasha Fitter after her daughter was diagnosed. We teamed up with other FOXG1 parents across the world and formed the FOXG1 Research Foundation in 2017.  What were your top highlights and takeaways from the FOXG1 Syndrome Science Symposium & Parents Conference? We hosted two conferences in one and the first was a science symposium where scientists from all over the world met privately in Florida to present their data. I couldn't believe how much science was underway. Seeing how far we've come on the science-front was really incredible, as was the promising data that was uncovered. It was clear that this isn't a job for the scientists involved-- they are invested in helping all children with FOXG1 to live a life without suffering. The parent's conference was a blend of clinicians, scientists and FOXG1 parents that all came together to learn from each other-- to connect, learn and inspire. There was a lot of information and a lot of inspiration. What advice do you have for patient advocacy leaders in motivating their caregiver and patient population to better understand their disease, get involved and participate in fundraising? There's a lot we want to say to parents to communicate the work that's being done to improve their children's lives, but it's a challenge because people see things quickly and go on about their day. My best advice is to let the work speak for you. For anyone starting or running a patient organization, it is hard to reach your whole community and convince your whole community to get involved, but the more work you do, the more parents will see the work that's being done.  What advice do you have for advocacy leaders who want to hold a conference? If you're thinking about doing it, absolutely do it. We were able to get sponsors which allowed us to do a travel scholarship and that helped parents to come, removing the burden of cost. When we were deciding on a venue, we looked at where the majority of the families lived and chose a place that doubled as a vacation. I recommend choosing a vacation-type location that adds an extra level of enjoyment.  LINKS & RESOURCES MENTIONED FOXG1 Foundation https://foxg1research.org/ ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group with Nasha Fitter and Mike Graglia https://effieparks.com/podcast/episode-094-mike-and-nasha ONCE UPON A GENE - EPISODE 047 - Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter https://effieparks.com/podcast/episode-47-ciitizen-nasha-fitter Ciitizen https://www.ciitizen.com/ Josie's Journey Blog https://josiedevin.blogspot.com/ Pam Skillman https://foxg1research.org/resources Nikki McIntosh https://raremamas.com/ Dr. Allyson Berent https://cureangelman.org/about-fast Race to 100K https://foxg1research.kindful.com/foxg1-awareness-2022 FOXG1 Research Foundation YouTube https://www.youtube.com/@FOXG1Research/videos Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

Patient Advocates do more than raise money—they are active participants in the drug development process. While the ALS Ice Bucket Challenge garnered global attention, lesser-known patient advocates also flex their expertise to drive new treatments and cures.  In this episode, we talk with two moms, one who is a patient herself, about their work as partners in research and development, helping bring treatments for two rare diseases to the market. Susan Ruediger, Founder and Chief Mission Officer, CMT Research Foundation  Nasha Fitter, CEO, FOXG1 Research Foundation   

RARE MAMAS RISING- EPISODE 019 A Big Reason to Be Here with FOXG1 Research Foundation Co-Founder, Executive Director, and Rare Mama- Nicole Johnson Nicole Johnson is the co-founder of the FOXG1 Research Foundation and mother to Josie, who has a severe mutation of the FOXG1 gene. The FOXG1 Research Foundation is not only accelerating research to cure FOXG1 Syndrome and brain disorders but also driving change in the rare disease landscape. Bringing more than two decades of experience in media and communications, Nicole currently serves as FOXG1 Research Foundation's Executive Director overseeing every vertical across the organization. In this episode, Nicole's strength of purpose blazes bright, and she speaks with firsthand knowledge about the powerful combination of science and hope. She's a 2022 Global Genes Champion of Hope Award nominee, and she believes we are all here for a really big reason. After listening to this hope-inducing conversation, you're sure to understand why!   EPISODE HIGHLIGHTS The journey to a FOXG1 diagnosis for Nicole's daughter Josie How Nicole co-founded the FOXG1 Research Foundation and the work she's doing as the Executive Director The progress the FOXG1 Research Foundation has made, and its impact on the way natural history studies are conducted Why we are living in a “science renaissance” Nicole's concept of “Happiness Hacks” to keep from living inside the gloom     LINKS & RESOURCES MENTIONED   FOXG1 Research Foundation www.foxg1research.org What is FOXG1 syndrome?  https://foxg1research.org/foxg1syndrome   Nicole Johnson Meet Nicole & Josie: https://youtu.be/NRT7lVuBTJ4 LinkedIn: https://www.linkedin.com/in/nicole-johnson-foxg1/ Email: nicole@foxg1research.org   Global Genes https://globalgenes.org/     CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.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/

Kiana caught up with Believe in a Cure co-founder Scott Reich to discuss how his son Eli inspired him and his wife to start the organization, as well as what they're doing to help find the cure for FOXG1 syndrome.

Scott Reich, Co-Founder of Believe in a Cure, steps onto the New York Launch Pod to discuss his non-profit foundation that is looking for a cure for FOXG1 Syndrome, a rare neurological disorder which has affected his son Eli. Scott began his foundation when his Eli was recently diagnosed with FOXG1 Syndrome, a neurological disorder that will prevent him from ever speaking or walking. Despite the devastation this caused Scott and his wife Ilissa, they decided that they were going to fight this disease for the sake of their son and all others affected by FOXG1 Syndrome. Since then, Scott and Ilissa have received an influx of support through personal donations, scientists and doctors who have dedicated their time and resources and friends who have connected them with someone who may be of help. In this episode we discuss FOXG1 Syndrome, how people can get involved to find a cure, how Scott and Ilissa were able to build a foundation from the ground up and much more. For more information on Believe in a Cure visit: webelieveinacure.org Transcript available at: nylaun.ch/believeinacuretr This episode has been sponsored by RezCue, the Housing Stability and Tenant Protection Act compliance software for landlords. For more information on RezCue visit: rezcueme.com

Guests: Nasha Fitter and Nicole Johnson - In this course, Michelle is joined by Natasha Fitter, CEO and Head of Research, as well as Nicole Johnson, President of Communications, for FOXG1 Research Foundation. These two co-founders are here to share how their very personal parenting walks of children with FOXG1 Syndrome, led to the birth of this amazing Research Foundation that is changing the lives of countless children around the world. FOXG1 is know for causing varied and severe Pediatric Feeding Disorders. Not only will Natasha and Nicole share the history of the Foundation, but they will also discuss their latest research, and recommendations for best practice for evaluation and treatment of individuals with PFDs secondary to FOXG1.

ONCE UPON A GENE - EPISODE 047 Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter Nasha Fitter is the mother of three daughters, one of which was diagnosed with a rare disease called FOXG1. After her daughter's diagnosis, she got to work and co-founded the FOXG1 Research Foundation. She's dedicated to leading the research strategy and finding a cure for every child in the world with FOXG1 syndrome. She's here to talk to us about her work as the Director of the Rare and Neurological Disease Division for Ciitizen, a technology company that enables fast and seamless access to patient data. In this episode, you'll learn about the most innovative medical record platform that will be open and accessible to parents, caregivers, clinicians, academics, bio pharma and researchers. Their goal is to eliminate the slow, manual and expensive processes that are currently used to collect data.  EPISODE HIGHLIGHTS Tell us about you, your family and how you came to be a part of the rare disease community.  I have three children and my youngest daughter, Amara was diagnosed with FOXG1 syndrome when she was 9 months old, right after she started having seizures. Before that, I worked in education technology, but when this happened to Amara, my focus became her and how I could drive scientific research forward. I started the FOXG1 Research Foundation with a group of other parents and that has taken me along a journey where I came in contact with Ciitizen. I thought they were going to solve a need I was having within the FOXG1 community and that's how I became completely immersed in this research and community. Tell us about Ciitizen and your role there. Ciitizen is a platform that's patient mediated. Ciitizen collects all of your medical documents, digitize them and put them on a portal for you so you can easily access them and send them for second opinions. They have spent the last few years investing in machine learning and AI technology to read unstructured medical documents and extract data from them. This information in the aggregate can be used by academic researchers to further their research and understand disease progression and by bio pharma companies looking for natural history studies. Ciitizen is also working on clinical trial matching where patients can be matched to trials to be a part of.  How do you get started if you want to have medical records digitized? If you are a breast cancer patient, you can go to the website and sign up now. For other disorders, we're working with advocacy groups to build out the ontology, the framework of the disease. In the rare disease neurological space for example, we have started working on rett syndrome and mitochondrial diseases. We first engage with the advocacy group, get to understand the disease, talk to clinicians and invite patients to join the platform.  Can doctors, geneticists and scientists access the platform and perform their own search? The platform is free for clinicians and academic researchers who are the most excited about this program because they don't have accessible information about everyone in a rare disease community. Clinicians are finding this is a really easy way to look at data in a scaled way for a specific disease group. When you go to a clinician for a second opinion, they have to gather and sift through your prior medical records. Now they can use a neuro card where we have listed out all the critical elements with easy access to the records and get a good sense of data before your appointment. We're saving clinicians a ton of time.   If all these medical records are in this database, how do we protect our privacy? Ciitizen is HIPPA and GDPR compliant, all of your data is stored securely and with an audit trail. You own all the medical records, so no identifiable information can be shared with anyone unless you choose to share them. All Ciitizen can do is share your non-identifiable aggregated data, which means everyone in you cohort with a shared disease has aggregated information that can be shared with researchers trying to find a cure for your disease. The security is really important.  How can parents and caregivers help move this platform forward? It's a joint effort. We are onboarding SYNGAP patients next week and we have a partnership with that advocacy group to find a cure. Having advocacy groups is so critical. Within the rare disease community, groups need to centralize and come together. We're hoping to work with various advocacy groups to help them in a joint effort and to bring in patients. What is a natural history study? A natural history study is clinician-entered data that can be supplemented with patient outcomes. Traditionally, academic centers will conduct a natural history study, patients will travel every few months for doctors to collect information. The problem with the model of these natural history studies is that they're expensive, they decide who they share it with and what they do with the data. The beauty of a digital natural study is that data can be collected from anywhere globally, patients don't have to travel and the data can be shared with every pharma company interested in the disease.  What final thoughts do you have for parents and caregivers? The main takeaway for patients is that you have a strong voice and your data can go far. For advocacy leaders, it's your responsibility to gather your patients and create digital natural history studies. It's important for the community that you provide data that helps them make better decisions and that you're providing academic researchers and pharma companies access to data that helps your disease get on their radar. It's important for advocacy group leaders to take initiative and for patients and community members to contact your advocacy leader about a natural history study.  LINKS AND RESOURCES MENTIONED FOXG1 Research Foundation https://www.foxg1research.org/  Ciitizen https://www.ciitizen.com/ EPISODE 041 - Time is Brain: SYNGAP Research Fund with Mike Graglia https://effieparks.com/podcast/episode-41-syngap-research-fund The Patient Record Scorecard https://www.ciitizen.com/scorecard/ EPISODE 043 - David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action https://effieparks.com/podcast/episode-43-david-fajgenbaum CONTACT NASHA FITTER nasha@ciitizen.com nasha@foxg1research.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/

Tori is an avid canoeist and backcountry adventurer who lives in the small town of Magnetawan, Ontario with her husband, Jim, and her 21 month old son, Wesley. She has been paddling whitewater for the last 7 years and has navigated some of Ontario's most challenging white water rivers. Her more substantial trips include fly-in remote wilderness rivers in Northern Quebec, Northern Saskatchewan and the Northwest Territories. She has also completed a 100 mile, 8 day backpacking trip through the Rockies from Jasper to Grand Cache. In early 2020, her experience and passion inspired her to create Paddle Like a Girl, which is an overnight workshop geared towards women who are interested in learning how to plan and execute their own backcountry canoe trips. Some notable moments in this episode: 14:45: Gaining confidence and empowerment through outdoor sports 15:35: How society leads women to believe they're weak 25:00: Actionable steps for how to open up space for BIPOC and other groups less represented in the outdoors 42:00: Sport as common ground Follow Paddle Like a Girl: Website: https://www.paddlelikeagirl.com Instagram: https://www.instagram.com/paddlelikeagirl_/ Follow Tori: https://www.instagram.com/torigoesoutside/ Also mentioned in this episode: Cliff Jacobson: https://www.cliffcanoe.com Tori's fundraiser for FOXG1: www.campforacure.com --- Support this podcast: https://anchor.fm/socialsport/support

Listener Vivek got in touch with a question about a rare genetic disease his son has, called FOXG1 Syndrone. In fact, it's so rare - and so newly-discovered - that only about six hundred people in the world have been diagnosed. Kids with FOXG1 have severe developmental delays; in Vivek's words, "everything that can go wrong - it's gone wrong with him." But the parents of FOXG1 children have been unusually tenacious when it comes to shaping the course of science. In this programme we meet those people blurring the line - metaphorically speaking - between the brain and the heart. Like this podcast? Please help us by supporting the Naked Scientists

 Excerpt from HOPE FOR THE CAREGIVER on American Family Radio: 8/24/2019 It’s starting to dawn on a lot of us …some of who are newer to this, not so much, but a lot of us have that realization, “Man, this thing is not going to have the happy ending, it's not going to have the happy ending that we want, it's not going to get pretty. In fact, it's going to probably get worse.” And what do you do with that information? What does hope look like in that? And as I've struggled through these things and I've worked through these things myself, I determined I was going to offer this to my fellow caregivers to ways that they can point them to safety, point him to high ground where they can just catch their breath. And I got people that call in to the show that want to kind of insert their story into it, you know, “I've been taking care of my children,” but they're not special needs children, they're just children, I've got children. But this is not “Hope for the Parent;” this is not “Hope for the Homeschooling Parent,” …this is Hope For The Caregiver. This is not to teach you how to care-give, this is not to do any of those things, this is Hope For The Caregiver, who… that one person who is up night after night after night doing laundry. Back and forth at doctors’ offices. Looking at the bills mounting up. Listening to somebody who…they are wiping their bottom… and getting cussed at by the same person. Somebody whose father abused them as a child and now they're having to help him go to the bathroom.   This is who the show is for …to let you know that God has not forgotten you, He has not abandoned you. This is not some kind of curse from God, that's not what's going on here. And this is your time. As it was said in the scripture at the beginning of it, “Anxiety in a man's heart weighs him down, but a good word makes him glad; a good word makes him glad.” How many of you right now are feeling so anxious, that are so weighed down? I can't take this burden off of you, you can't take mine off of me, but what we can do is help each other adjust this pack a little bit easier, and what we can do is we can build each other up and equip each other to be stronger as we carry it. What's happening is we're trying to muscle our way, white-knuckle our way through this and we're getting weaker by the day. I get that. And so, what I'm trying to do on this show, what American Family Radio is helping me do is to come along and strengthen you for this journey. That's what it means when we bear one another's burdens. We're equipping each other to do this. We're not going to let you just get crushed by this. We want to point safety and we want you to know that your peace is available, it's right now, that peace that you're craving is available right now! You don't have to wait for the funeral to be over… to have peace in your heart, you don't have to wait for that magical surgery that's going to fix this or that, whatever that treatment is. You don't have to wait for that you don't have to wait for your loved one to stop acting the way they're acting, to stop drinking …stop putting drugs into their body. You don't have to wait for that to have peace, you can have that right now; no kidding, right now. It's not going to come without tears and it's not going to come without reinforcement and work and somebody pointing you to that place. And I floundered around for so many years where people came… when people came up to me and just offered me stuff that we just looked at them like, “What's the matter with you?” But I was young …and I didn't know much, and I didn't know how to respond to that. I didn't know how to push back on that and say, “No, this is not wrong.” And bad theology has caused more damage for people, and we've got a lot of bad theology going on out there. So, when we sit down here with this network we said: “You know what? We're going to put good theology in a way that caregivers can really understand into their hearts. We want to make sure that you clearly understand what the gospel means in this situation, that even as you are doing the things that you're doing, changing a dressing or a colostomy bag or picking up your special needs child and getting them to the toilet, that even in those moments when your heart is breaking, that the peace of God which transcends all understanding can still flood your heart in those moments; that's what the show is about.” 888-589-8840, 888-589-8840. Peter: Ernie in Alabama. Ernie, good morning, how are you feeling? Ernie: Good morning at Mr. Rosenberger. I should call you brother Rosenberger. Thank you for taking my call. Peter: Well, you can just… how about you just call me Peter? You can just call me Peter. Ernie: Peter, well, thank you thank you, Peter, thank you for your program, it's amazing. It has to be providential, I was telling the lady when I call that we’re caregivers for our granddaughter along with her mother. She's a teacher and so we take care of her, and she's 5 and a half years old, she’ll be 6 in October, so she's almost 6, and he suffers from FOXG1 syndrome. And FOXG1 is a deletion of 1 little gene in the 14th chromosome, and the symptoms are that she cannot… she cannot fit by herself nor stand by herself, she can support weight, but you cannot walk, she cannot crawl, she cannot sit from lying… in lying position, she cannot talk. She loves music, she loves people, she's aware of her surroundings, she understands her name and she cannot sing or do her ABCs. We take her to school, they have a real nice class, the… that happened at conception when the deletion misconstruction of her genetic code. And also, her problem also is the communication between her little brain to the different autonomous system. Peter: Ernie, let me… Ernie, let me stop you for a second. One of the things we caregivers are very good at doing is we can rattle off our loved one’s chart, we could get down to the chromosome and DNA level, we could tell everything about our loved one. Ernie, how are you feeling? Ernie: Yes, and this is one of the reason that it's a miracle, providential I would say. I'm a Christian, I believe in the power of Jesus, I believe in… Peter: Ernie, I got… Ernie, Ernie, I got all that. How do you feel right now? Ernie: Oh, yes, it’s exactly like what you say. The theology when people approach you and for example, like they say, “You know, the reason that your granddaughter is the way she is is because God knew that you were going to be a good provider.” Peter: But Ernie, Ernie, you're still… you’re still not answering my question. I want you to take 1 word and tell me how your heart feels right now. Ernie: Oh, it's devastating, it is devastating to go through what we go through and… Peter: Well, it is devastating, and if you could do something for me, can you hang on? Don't hang up because we got to take a quick break, but I want to talk about [feeling] devastated, okay? Can you hang on with me? Ernie: Sure. Peter: Just hang on, don't go anywhere, we're going to take a quick break and I want to talk about this a little bit more. This is Hope For The Caregiver, this is Peter Rosenberger and this is the show for you as a family caregiver. You voluntarily put yourself in a situation where you’ve got to help an impaired loved on, how are you feeling? How are you feeling? How is your heart doing? Ernie and I are going to talk about that when we get back. 888-589-8840, we'll be right back. BREAK Welcome back to the show for caregivers, this is the nation's number one show for the caregiver and you know what? Because of AFR, we're out in front of this with the gospel. We're not giving you New Age, psychobabble, Hallmark cards …We're giving you the authority and the clarity of the gospel in your situation as a caregiver. 888-589-8840, 888-589-8840; let me go back to Ernie. Ernie, you see what I'm talking about here when I ask you how you're feeling and it took you going through your granddaughter’s chart and talked about all the things … you used a lot of words, but when it comes down to really how you're feeling, it's devastating to watch this. And that's what I want to talk about with you, I want to see how are you doing because I want to be able to speak to that devastating place in your heart. It is a hard thing to watch your family member, somebody you love deeply to be this way …and to go with these things and wondering with it. So, talk a little bit more about how are you feeling in this, Ernie? Ernie: The… Peter, the most devastating part of all is whenever you see her suffering in pain in anguish, whenever you see her going into seizures, the first thing that comes in is to… it tries your faith. And then you would say you will say things like, “God, we've been praying for 6 years and look,” and then you say, “Do you care? Are you listening?” But then as soon as you say it and then whenever the seizures subside and she's feeling better, then the guilt of knowing then I didn’t have enough faith, enough staying on his world to trust him through this awful time. And that’s one… that's the most devastating part is the fact that I know that he cares, I know that he listens, I know that his hand is long to reach and help, but we do not understand why, and it goes to the why. And then so that is… and then you go through the period devastation of our faith, the devastation and, you know, we just feel so low… Peter: Well let me… Ernie: .. the fact that we tapped out.   Peter: Let me… let me speak something very specific to you in that, Ernie. And thank you for that, Ernie, thank you for trusting me with your heart because that now we're having a real conversation, because you do, you question why God is doing something, after the seizure is done, you breathe a little easy and then you feel guilty for it.   And no, no, no, I want you to understand that it's not your faith, it's not how much faith you have, it's not the fact that you could squint your eyes real hard and pray, it's the fact that you are calling up to God in the first place. That is the indication of your faith.  That you recognize that there is a God and that He is supreme over this.   You don't understand it and it hurts your heart  …and it frustrates you to watch your granddaughter go into these seizures, I get that, but the fact that you are calling out to this God at all, Ernie, is an indication that your faith is. And I want you to… I want you… I'm going to give you something very specific today because everything we do here is specific and focused on a caregiver, but I want you to remember this Psalm: Psalm 13.   And I'm going to read it to you, but I want you to look it up, and every time you feel this way, every time you struggle with this, would you go back and look at this Psalm? Let's see what it says, “How long, Lord, will you forget me forever? How long will you hide your face from me? How long must I wrestle with my thoughts and day after day have sorrow in my heart? How long will my enemy triumph over me? Look on me and answer, Lord my God, give light to my eyes or I will sleep in death and my enemies will say, ‘I've overcome him,’ and my foes will rejoice when I fall.”   And here you go, here you go, Ernie, this is for you, this is what David says,   “But I trust in your unfailing love. My heart rejoices in your salvation, I will sing the Lord's praise for he has been good to me.”   Do you see the train of thought that he did as he wrote this Psalm under the guidance of the Holy Spirit? Because he cried out, “How long, Lord?”   You've been praying for 6 years with this granddaughter, you've been watching this situation unfold, and those questions that come, “How long are you going to let me just basically go to bed with his tears pulling… flowing from my eyes?”   But as he as he works his way through this, he comes back he said, “But here's what I'm going to do.”   And this is where you are, Ernie, you're in that Psalm 13 place where it is very, very difficult, and there are so many tears that come and you're saying, “How long?” and yet, you are still recognizing that that you have a Savior, you have a God who is who is keenly aware of this and you're conflicted on any given day. Every caregiver, every one of us understand that conflict that comes in our hearts. And I want you to know that I appreciate you very much taking the time to just call and share your heart. It takes a while to get down to it because we want to rattle off all the chart, but what we're interested on this show right now, Ernie, is your chart, the chart of your heart, of how you feel.   And does that Psalm 13, can you… would you hang on to that for me? When you get to those places, would you hang on to it and go back and just spend some time reading Psalm 13?   Ernie: I will and I will share it with my wife and my daughter. And I cannot thank you enough for your compassion, for great thing that you're doing. And just yesterday she had another episode, and I was in my way this morning to a Bible study we do on Saturday mornings, and not only that, but there are also people in my group that have Alzheimer's, loved ones with Alzheimer's and I'm going to share this morning as soon as…   Peter: This is the show for your group, this is the show…             HOPE FOR THE CAREGIVER is an outreach of Standing With Hope   Ernie: I will.  Peter: … for your group and your daughter. And would you… would you read…? Do me do me a favor, just I'm asking you to just kind of take a little bit of a leap of faith, not just share this with your wife, but would you and your wife and your daughter sit around the table and would you hold each of their hands and will you read Psalm 13 to them, read it very, very, very slowly.   Ernie: I can do it with them, that would be…   Peter: Now, there will be some… there'll be some tears, there'll be some tears there, Ernie.  OK? I'm just giving you a heads up, all of your eyes will fill with tears. But if you will stand in that gap as “the Godly priest of your home manner” …and read these words to your family, I promise you…   Ernie: I’m sure that will be…   Peter: I promise you something, and I want you… actually, I want you to call us back and tell us what happens in that moment. It won't be easy, it'll be… it'll be difficult, there'll be tears, but I want you to have that…   .. Actually, you know what?  You don't want you don't need to call us back and tell us because that's a private moment with you and your family and God, but I believe that you'll… you'll know that you are stepping into a different place with your family in your relationship with God. But physically touch your wife and your daughter, hold their hands and read the scripture out loud, and read it slowly, I mean slowly, because our hearts move a lot slower than our mouths and our heads. And thank you for…   Ernie: It’s the correct Psalm.   Peter: Pardon me?   Ernie: It’s the correct Psalm, Psalm 13, so I surely will do that. And thank you so, so much for that, and I know that we expect victory from this, just the fact that, like you said, that he's there and he's there for us and… but…   Peter: The victory is… the victory is already there, this journey is… is honing you down to be in that place with God that you would not be otherwise.   The victory was assured at the cross and we have to walk in that victory.   Now, sometimes we think victory is when they stop having seizures, there's victory when they're having seizures, there's victory when all of this stuff is happening. As my wife groans in pain at various times, there's victory while she's groaning in pain. Somehow we've equated victory with problem-solving, and victory is a whole lot different.   And we can have victory, we can have peace, we could have joy right in the midst of these things. Now, I'm not saying this like I own this I'm saying this like I believe this …and I need to hear it over and over …and over again myself. You tracking with me?   Ernie: Yes.   Peter: So, the next time… next time your granddaughter has a seizure, I want you to understand that you have victory even in the midst of that seizure. The victory has not been stripped from you because it was not your victory, it was God's victory through what he did at the cross, that's our victory. And you hang on to that, hang on to that and help your wife and your daughter hang on to that.   Ernie: I sure will.   Peter: And that's how we're going to do it together. And, Ernie, I want you to know how much I appreciate you calling and sharing your family's journey. And you're important to us, we're part of the body of Christ, you're my family and we're going to we're going to we're going to strengthen each other together.   Ernie: Thank you.   Peter: And you've helped… you've helped strengthen me this morning, Ernie, so thank you.   Ernie: Well, thank you, thank you for your program and may God bless you.   Peter: Well he does and he has, and you go to your Bible study right now and share this with the Bible study there and then I'd like to hear from you in the future about just how you doing, okay?   Ernie: I will, thank you.  

A woman suspect was identified on surveillance camera at a wedding in Alabama allegedly taking money that was supposed to be donated to FOXG1 Syndrome research. The newlywed's daughter have the condition. Anna Perez Todd and her husband Lee Todd join the podcast. International FOXG1 Foundation: https://foxg1.org

Traditionally, calligraphy is written on paper, but in this episode, we branch outside of the notebook to talk about writing on non-traditional surfaces with our guest Marisa Jackson of Marisa Made. From glass to wooden ornaments, we talk about prepping surfaces, tools of the trade, and the special job of creating calligraphy for clients. Marisa is a professional calligrapher and artisan in West Virginia who has lots of experience selling her art in a variety of forms. She's an incredible advocate for her son Maxwell, who was diagnosed with FoxG1 syndrome. Marisa is a huge asset to the calligraphy community and we are excited to share her story and experience in today's episode. View show notes at: tinyurl.com/ep4-calligraphypodcast Follow us on Instagram at @thecalligraphypodcast Listen and Subscribe: iTunes Spotify Google Play Stitcher  

An interview with Extra Life Team WV Fox member Marisa, mother of Hero Kid Maxwell. This episode is part of series of Extra Life bonus content. Support Team WV Fox by donating to Extra Life. Your donations go directly to the Cincinnati Children's Hospital to help kids in need. Follow Maximum Pew Pew at our website, on Facebook, or on Twitter. If you are enjoying Maximum Pew Pew, consider donating via Patreon. Your contributions will help offset hosting, put snacks on the table, and commission artists and makers that we love.

Tech Entrepreneur, Husband and Father of 3 - Jason Lehmbeck, joins Ted to talk about the challenges of parenting a son with a very rare genetic disorder (FOXG1) and why he's launching New Podcast with his Co-Host, Blogger, Elizabeth Aquino, to offer a platform for parents and caregivers of special needs children.

This episode I had my buddy Alec on! You may remember Alec from early episodes of Magic With Zuby. We discussed Magic Arena, DnD, content creation and the fundraiser he is working on raising money for his daughter who has FoxG1. Had a really great time with him on. Be sure to check out Alec's Twitch and Youtube channel as well! Alec's Channels and Fundrasier:Twitter: https://twitter.com/AlecTheDurdleTwitch: https://www.twitch.tv/alecthedurdleYoutube: https://www.youtube.com/channel/UCwNU4Hn7bfpFCnvbL0wgqAwDonate to MoseleyMeds: https://www.facebook.com/donate/1337231469711671/ Dominaria Bundle Giveaway! Contest ends 4/28https://gleam.io/B66hU/dominaria-bundle-giveaway Zuby is scheduled to be at:Grand Prix Dallas May 4-6Grand Prix Orlando August 10-12Grand Prix Atlanta November 2-4 You can support Magic With Zuby on Patreon here:https://www.patreon.com/magicwithzuby Magic with Zuby can be found at:Facebook: facebook.com/magicwithzubyTwitter: @magicwithzubyGmail: mtgzuby@gmail.comiTunes, Google Play, Tunein Radio, Stitcher Magic With Zuby is sponsored by the following:Legitmtg.com: Order any Magic singles or sealed product that is over $2 and get free shipping to anywhere within the United States!Manatraders.com: Tired of buying singles in order to play in events on Magic Online? Manatraders allows you to rent any cards and decks you want for a monthly price! Be sure to check them out and use coupon code "MTGZuby" when you check out and get 15% off your first 3 months!