Decoding ASXL Mutations: Hope and Advocacy in Rare Diseases with Mom and Rare Disease Advocate, L... скачать в хорошем качестве

Decoding ASXL Mutations: Hope and Advocacy in Rare Diseases with Mom and Rare Disease Advocate, L...

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 the complexities 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 advance research 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 Guest 00:16 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. aarefoundation. org Connect with Laura Nozicka Email: lauramarie@desperateforadiagnosis.com Website: www.desperateforadiagnosis.com ⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠:   / desperateforadiagnosispodcast   YouTube ⁠⁠⁠⁠@desperateforadiagnosis ⁠⁠⁠⁠⁠ (   / @desperateforadiagnosis  ) Instagram ⁠⁠⁠⁠ @desperateforadiagnosis ⁠⁠⁠⁠ (   / @desperateforadiagnosis  ) TikTok @desperateforadiagnosis