Wiedemann-Steiner Syndrome With Melissa From New Jersey

Send us Fan MailWhat happens after a family finally gets a name for a rare condition?In this episode of Rare Connection, Joanna talks with rare disease advocate, author, and Rare Genes Movement co-founder Melissa White Boyer about her son Parker's journey with Wiedemann-Steiner syndrome (WSS), a rare genetic disorder associated with changes in the KMT2A gene.Melissa shares the signs that eventually led to Parker's diagnosis, what it was like to receive an answer for a condition few people have heard of, and the challenges that continued after the diagnostic odyssey was over.We also explore why rare genetic disorders don't always look like their textbook descriptions, how WSS can overlap with other genetic syndromes, and what happens when families find themselves educating healthcare professionals about their child's condition.Melissa discusses the gaps she encountered after Parker's diagnosis and how those experiences helped lead to Rare Genes Movement, which supports families across rare diagnoses.We also talk about inclusion and Melissa's children's book, I Am Rare, including one particularly powerful question from the story: Does the world have room for me? Melissa explains what she wanted that message to mean for children with rare conditions—and for the people and communities around them.In this episode:Parker's road to a Wiedemann-Steiner syndrome diagnosisWSS and the KMT2A geneWhy someone with WSS may not have every "classic" featureConditions that can resemble WSSNavigating healthcare after a rare diagnosisWhen parents know more about a rare condition than their healthcare providersThe gaps that inspired Rare Genes MovementInclusion, belonging, and disabilityThe story and message behind I Am RareWhat Melissa hopes doctors and researchers will learn from families like hersRare disease is more than a diagnosis—and a medical chart can never tell us everything about the person behind it.Check out Melissa's Book I Am Rare available on Amazon:  I Am Rare: White Boyer, Melissa, Piwowarski, Marcin: 9798993195902: Amazon.com: BooksSupport the show