Join 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 Markers
00:00 Intro
04:54 Malan Syndrome Explained
06:43 Diagnosis journey
08:30 How Presley was diagnosed
09:29 Fragile X Explained
10:05 Coping with uncertainty
11:43 Inspiration for cofounding the Oklahoma Rare Coalition
14:21 Support & Resources
15:20 Impact of coalitions on family
16:22 Challenges Sky Faced as a rare Parent Advocate
18:52 Issues that need ti be addressed to improve the lives of Malan Syndrome patients
19:56 How medical professionals and the public can better support Malan Syndrome patients
20:43 Steps to take to advocate for more resources for rare disease patients
21:49 Hopes for the future
22:37 Advice for New Parents
23:37 How Presley's journey has changed Sky's perspective
24:44 Final Thoughts
26:05 Conclusion
