Rare Connection Episode 9: Malan Syndrome with sky from Oklahoma

Send us Fan MailJoin me as I talk to Sky ,   mother of 3 children. about her daughter Presley's diagnosis with Malan Syndrome. Malan Syndrome is an overgrowth disorder that is considered as ultra rare.  Their are only 300 cases of this condition world wide.  Join me as I ask about her 8  year journey to diagnosis, Symptoms, Her role in Co-founding The Oklahoma Rare Coalition and the Malan Syndrome's Advocacy board which also deals with Arterial Tortuosity Syndrome (ATS).   The impact that Malan Syndrome has had on her family, resources and More.  You can visit the Malan Syndrome Foundation Website by going to https://www.malansyndrome.org/  If you would like to donate to this podcast you can go to https://www.buzzsprout.com/2204433/support Please consider subscribing to Rare Chef here on YouTube.  Feel free to comment below.Chapter Markers00:00 Intro04:54 Malan Syndrome Explained06:43 Diagnosis journey08:30 How Presley was diagnosed09:29 Fragile X Explained10:05 Coping with uncertainty11:43 Inspiration for cofounding the Oklahoma Rare Coalition14:21 Support & Resources15:20 Impact of coalitions on family16:22 Challenges Sky Faced as a rare Parent Advocate18:52 Issues that need ti be addressed to improve the lives of Malan Syndrome patients19:56 How medical professionals and the public can better support Malan Syndrome patients20:43 Steps to take to advocate for more resources for rare disease patients21:49 Hopes for the future22:37 Advice for New Parents23:37 How Presley's journey has changed Sky's perspective24:44 Final Thoughts26:05 ConclusionSupport the show