In this episode of the Desperate for a Diagnosis podcast, host Laura Nozicka interviews Laura Badmaev, a dedicated mother and advocate for children with ultra-rare genetic disorders. Laura Badmaev, founder and chair of the ASXL Rare Research Endowment Foundation, shares her journey and experiences with her son, Alex, who has Bohring-Opitz Syndrome, a rare genetic mutation. They discuss thecomplexities of diagnosing and managing this condition, the importance of genetic testing, and the crucial role of research and community support. Laura also highlights the foundation’s efforts to support families and advanceresearch for ASXL disorders. The episode sheds light on the challenges and resilience of families dealing with rare diseases and the ongoing work to improve their quality of life.
00:00 Introduction to the Podcast and Guest00:16 Laura Badmaev's Background and Achievements 03:39 Understanding ASXL Genetic Mutations
04:03 Alex's Diagnostic Journey
07:34 Challenges and Symptoms of ASXL Disorders
08:44 The Role of Genetic Testing and Research
11:42 Support and Resources for Families 23:20 Complex Care and Palliative Support
37:44 The Foundation's Mission and Future Goals
38:55 Closing Remarks and Contact Information
Contact Laura Badmaev:
laura@arrefoundation. org
www.arrefoundation.org
Connect with Laura Nozicka
Email: lauramarie@desperateforadiagnosis.com
Website: www.desperateforadiagnosis.com
Facebook: https://www.facebook.com/DesperateForADiagnosisPodcast
YouTube @desperateforadiagnosis
Instagram @desperateforadiagnosis
TikTok @desperateforadiagnosis
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