Unfiltered Treble
Send us Fan Mail [https://www.buzzsprout.com/2500123/fan_mail/new] A kid can be shy in person, bold on stage, obsessed with Elsa, and still be carrying pain most adults couldn’t tolerate. Harper is almost three, and she lives with CM-AVM syndrome caused by a RASA1 gene mutation, a rare vascular malformation that can affect blood vessels throughout the body. We’re Amanda and Stephanie, and we’re joined by Harper’s mom, Michaela, to tell the story behind the smiles: the NICU days, the moment a “rash” didn’t change, and the year-long path to a diagnosis that arrived with a room full of specialists and a whole new vocabulary. Michaela breaks down what capillary malformation arteriovenous malformation can look like day to day, including swelling, bleeding, shortness of breath, and constant pain in multiple spots. We talk honestly about the fear of what could happen if AVMs spread to the brain or spine, and what it does to a family when local care turns into “there’s no treatment.” That frustration pushes Michaela into the role so many rare disease parents know too well: becoming the researcher, the coordinator, and the advocate. Then the story shifts to a lifeline overseas: Dr. Colletti in Italy and the MESP treatment approach, plus the reality of raising tens of thousands of dollars to access it. We also get into faith, community support, and why families are pushing hard for FDA approval so parents won’t have to leave the country for relief. If Harper’s story moves you, please subscribe, share this episode with one person, and leave a review so more families living with rare conditions feel seen. CM-AVM Syndrome RASA1 Gene Mutation Rare Disease Awareness Pediatric Vascular Malformation Medical Advocacy FDA Approval for Rare Disease Treatment Special Needs Parenting Chronic Pain in Children Healthcare Access Rare Disease Family Story Support the show [https://www.buzzsprout.com/2500123/support] 🎧 Thanks for tuning in to this episode of Unfiltered Treble. If today’s conversation resonated with you, be sure to follow, rate, and review on Apple Podcasts, Spotify, or wherever you listen. Your support helps our sisterhood grow!
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