#196 Mitochondrial Disorders with Devin Shuman and Lissa Poincenot

This week we are joined by two mitochondrial experts who are very active in the rare disease community. We are focusing our conversation on a condition called Leber Hereditary Optic Neuropathy (LHON). Lissa Poincenot is a patient advocate with the United Mitochondrial Disease Foundation and she has a son that has been diagnosed with LHON. Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who also has a nano-rare mitochondrial disorder called GUK1. Lissa received a Bachelor’s degree from Princeton University, and an MBA from UCLA. Her professional career was devoted to developing and leading marketing teams at various large companies. In 2008 Lissa’s oldest son, Jeremy, suddenly became legally blind at age 19 due to a rare mitochondrial disorder called Leber Hereditary Optic Neuropathy (LHON). Jeremy has become a World Blind Golf Champion and Professional Inspirational Speaker. Lissa is a passionate LHON Advocate, devoted to advancing the science, educating about the disorder, and developing a vibrant, collaborative LHON community. She resides in Carlsbad, California.Devin received her Bachelor’s degree in Psychology from Smith College in Northampton, Massachusetts in 2014 and her Master’s degree in Genetic Counseling from the University of California, Irvine in 2017. She currently resides in Bellevue, Washington. In addition to her role at Genetic Support Foundation, Devin currently serves on the Medical Advisory Board for the GRIN2B Foundation and volunteers as the Young Adult Coordinator for the United Mitochondrial Disease Foundation. Her prior genetic counseling roles have included working at a telehealth genetic counseling company, a high-risk maternal fetal medicine clinic, a neurodevelopmental clinic, and an autism family registry. Devin is passionate about rare disease advocacy, public speaking, and inclusive care for LGBT and disability communities. On a typical Friday night, you’ll find Devin running a virtual support group for teens with mitochondrial disease – often with her Flemish giant rabbit or African grey parrot making an appearance.On This Episode We Discuss:Function of the mitochondriaGeneral symptoms that people with mitochondrial disorders experienceHow mitochondrial DNA impacts the inheritance pattern of mitochondrial conditionsHow the percentage of affected mitochondria correlates with the severity of symptomsJeremy’s journey to a LHON diagnosisThe percentage of people with the pathogenic variant for LHON that experience blindnessWhy people assigned as male at birth are more likely to be affected by LHON than people assigned female at birthTreatments available and clinical trials underwayDevin’s diagnostic odyssey and her unique perspective as a genetic counselor/patient advocateThe support group that Devin leads for teens with mitochondrial disordersTo learn more about mitochondrial disorders, visit the United Mitochondrial Disease Foundation, MitoAction, and the Mitochondrial Medicine Society. You can also check out Devin’s Ted-Ed Mitochondrial DNA talk, read about mitochondrial donation, and watch this video about mitochondrial fission and fusion.To learn more about Leber Hereditary Optic Neuropathy specifically, visit the LHON website, and check out the LHON Facebook group. In this episode, we mentioned some of the support groups that Devin leads. If you have a mitochondrial disorder and want to connect to others in the community, check out the Facebook support groups for teens-20s and 20s-40s. Devin also runs a weekly Zoom support call for ages 16-35, you can register here.Be sure to check out FreshCrayons on Etsy for your own mitochondrial plushy pillow that Devin showed off in the video! And enter our giveaway for a mitochondrial sweatshirt on Twitter, LinkedIn, and Instagram. If you found this episode topic interesting, check out episode 170 for more info about mitochondrial disorders, specifically primary mitochondrial myopathy. Stay tuned for the next n