#34 Bloom Syndrome with The Yasbins
In this episode we have a special discussion lined up on Bloom Syndrome, featuring our guests Melanie and Lorne Yasbin, who will share their family's experience with this rare genetic disorder.
Melanie received her J.D. from Villanova School of Law, and a B.A. in Political Communications with a minor in religion from The George Washington University.
After working for the Federal government for several years, Melanie joined a private practice where she represents railroads in negotiations with each other and before Federal agencies.Melanie dedicates time to causes and organizations whose missions speak to her. She currently serves on the Boards of the JCC of Greater Baltimore and Krieger Schechter Day School (KSDS). As a member of the KSDS Board she has served as the Chairs for Development and Governance. She is also an active volunteer for the Bloom Syndrome Association.
Lorne graduated from Temple University’s School of Dentistry in 2001 as a Doctor of Dental Medicine. He previously attended Penn State, where he received a B.S. in Microbiology. For the last 21 years Lorne has been practicing general dentistry in Frederick, Maryland. In addition to practicing chair side, Lorne is the clinical director for 14 offices in Maryland. Outside of work, Lorne is in his third year of serving on the Board of the Bloom Syndrome Association where he chairs the Community Engagement committee. When he has free time, you can find Lorne trying new restaurants throughout Maryland and Delaware, exercising to work off those meals, and relaxing in Rehoboth Beach, Delaware.
Understanding Bloom Syndrome:
Bloom Syndrome is a rare genetic disorder characterized by a range of symptoms, including very short stature, light sensitivity, immune system deficiency, and a heightened risk of developing cancer at a young age. Individuals with Bloom Syndrome may also experience chronic respiratory illnesses, recurrent ear infections, and diabetes. Notably, males may face infertility, while women undergo early menopause and reduced fertility. With only a few hundred documented cases worldwide, Bloom Syndrome presents significant challenges for affected individuals and their families.
Interview Highlights:
1. Diagnostic Journey: Melanie and Lorne share insights into their son Brady's diagnostic odyssey, highlighting the challenges they faced in identifying Bloom Syndrome. From noticing early signs to navigating various medical appointments, they provide a firsthand account of their journey.
2. Family Planning and Genetic Counseling: The discussion delves into the impact of Brady's diagnosis on family planning decisions and the role of genetic counseling in providing support and guidance to the Yasbin family.
3. Managing Cancer Risk: Given the heightened risk of cancer associated with Bloom Syndrome, Melanie and Lorne discuss strategies for managing Brady's cancer risk and navigating cancer screenings and treatments.
4. Parenting and Family Dynamics: The conversation also touches on the practical aspects of parenting a child with Bloom Syndrome, including balancing Brady's needs with those of his older brother Noah and making medical appointments a positive experience for Brady.
5. Advocacy and Advice: Melanie and Lorne conclude by offering valuable advice to listeners and sharing their advocacy efforts for individuals with rare diseases like Bloom Syndrome.
We extend our heartfelt thanks to Melanie and Lorne for their candid insights into Bloom Syndrome and their unwavering advocacy for rare disease awareness. Their story serves as an inspiration to families facing similar challenges, and we wish them all the best in their journey.
Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
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