It Happened To Me: A Rare Disease and Medical Challenges Podcast Cathy Gildenhorn, Beth Glassman, and Kira Dineen (DNA Today)

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:
 
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.
 
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.
 
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.
 
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.
 
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 Gildenho

In our last episode (#32), we had the privilege of speaking with Matthew Goldstein, CEO of JScreen, about genetic screening. In this conversation, we are honored to welcome his wife, Myra Sack, a writer, coach, and activist, to share her family's journey and honor the memory of their daughter, Havi, who passed away from Tay-Sachs disease in 2021.
 
Myra Sack is not only a dedicated parent but also a passionate advocate and writer. Her memoir, Fifty-Seven Fridays, is a poignant reflection on navigating life's most painful realities and finding beauty amidst grief. With a background in social impact and bereavement care, Myra's insights offer invaluable guidance for those facing medical challenges and grief.
 
Exploring Tay-Sachs Disease:
- Myra shares insights into Tay-Sachs disease, educating our audience about its impact and challenges faced by individuals with the condition.
 
Preconception Screening Journey:
- We delve into Myra and Matthew's journey with genetic testing and preconception screening, highlighting the importance of awareness and informed decision-making.
 
Coping with Diagnosis:
- Myra reflects on coping with the shock and emotional impact of Havi's Tay-Sachs diagnosis, offering personal insights into their family's journey. 
 
Fifty-Seven Fridays:
- Myra discusses her memoir, Fifty-Seven Fridays, sharing its purpose and the therapeutic process of writing it amidst grief.
 
Learning to Coexist with Grief:
- Myra shares wisdom on learning to coexist with grief, offering invaluable advice and insights for those facing medical challenges and loss.
 
Role of Support Networks:
- We explore the role of organizations like the Courageous Parents Network and E-Motion, Inc., in providing support and resources for grieving individuals and families.
 
Parting Words of Wisdom:
- Myra offers heartfelt advice and parting words of wisdom for our listeners, encouraging resilience and embracing community amidst challenges.
 
As we conclude our conversation with Myra Sack, we are reminded of the resilience of the human spirit and the power of sharing our stories to inspire and uplift others. Join us in honoring Havi's memory and embracing the journey of learning to coexist with grief.
 
Check out Myra’s organization, Emotion, which is for grieving individuals to find community and cope with loss. And of course, her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi’s diagnosis, and how they celebrated her life. 
 
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.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families. 
Matt Goldstein is a physician-scientist and entrepreneur. He has founded companies, built R&D teams, and led strategy and execution of both pre-clinical research and clinical development. Prior to joining JScreen and Emory University, Matt was a Partner at Related Sciences, a venture creation firm. As an entrepreneur at Third Rock Ventures he spent a decade building and operating Third Rock portfolio companies. He was responsible for building and leading the Immunology program at Tango Therapeutics, the centerpiece of Tango’s strategic multi-billion dollar partnership with Gilead Sciences, Inc. He also served as the development head for Tango’s lead program which entered the clinic in 1H 2022. Matt was a co-founder of Neon Therapeutics leading Translational Medicine and Early Development through completion of their first clinical study and initial public offering. He is a graduate of Swarthmore College and the MD/PhD program at Stanford University, where he pioneered novel cancer immunotherapies in the lab of Ron Levy, MD. He completed his clinical training in Internal Medicine at Harvard Medical School, Brigham & Women’s Hospital. He lives in Boston with his wife, Myra, their second daughter Kaia and son Ezra. His oldest daughter Havi died on January 20th, 2021 of Tay-Sachs disease.
A quick update that during the episode Matthew mentioned there are 4,000 genetic counselors in the USA, this number has now surpassed 5,000.  
During the episode, Matthew recommends the book Bearing the Unbearable: Love, Loss, and the Heartbreaking Path of Grief by Dr. Joanne Cacciatore. 
 
Check out his wife, Myra’s organization, Emotion, which is for grieving individuals to find community and cope with loss. 
 
In our next episode we will chat with Myra about Emotion and her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi’s diagnosis, and how they celebrated her life. 
 
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.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode we are learning about blood transfusion therapy with a focus on the patient experience. 
 
Our Executive Producer, Kira Dineen, joins as a co-host since she has a scientific background. 
 
Lori Harada is a registered nurse who also serves as Senior Manager, Technical Excellence Team, for Terumo Blood and Cell Technologies. This is a team of 12 specialists who provide education and support for both the Spectra Optia® Apheresis System and the Trima Accel® Automated Blood Collection System.
 
Lori is no stranger to this industry. She brings with her almost 40 years of nursing experience, 35 of those years in apheresis practice. With her vast knowledge of blood transfusion and related products in the field, Lori provides unique perspective, insight, and understanding to bear for customers, and ultimately patients, every day. Lori is a leader in the industry and has moderated several webinars for American Society for Apheresis (ASFA) and the American Society of Pediatric Hematology/Oncology (ASPHO).
 
During her career, Lori has held positions ranging from apheresis operations and clinical training to sales and marketing. But her true love is education. Seeing a new operator catch the passion of treating patients with apheresis is what brings her the most joy, along with instilling knowledge in her specialists so they share that passion of improving a patient’s life. In her free time, Lori enjoys living in Colorado, where she skis, hikes, and plays golf.
 
Carly Newton is a Registered Nurse at Terumo Blood and Cell Technologies. She has over 15 years of experience helping Healthcare Professionals that treat Sickle Cell Disease patients with Red Blood Cell Exchange all over the globe. Specializing in apheresis treatments, Carly uses that experience to educate Health Care Professionals on the most effective ways to prescribe Red Blood Cell Exchange.
 
By focusing on differentiating the different types of transfusion therapies available to Sickle Cell Disease patients, Carly has been able to put the Registered Nurse degree she earned at The University of South Australia to good use. Carly may spend her days at the Terumo Lakewood campus, but it’s the patients and helping them live their best lives that gets her up in the morning. When she’s not at Terumo, Carly loves spending time in the great outdoors and enjoying everything the Colorado Rockies have to offer.
 
If you want to learn more check out Terumo’s website here. 
 
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. 
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In honor of Rare Disease Month, we're thrilled to welcome a special guest to our podcast episode: Wes Michael, President, and Founder of Rare Patient Voice. With over two decades of experience in rare and orphan diseases, Wes has dedicated his career to amplifying the voices of patients and caregivers in medical research and development. Join us as we delve into the story behind Rare Patient Voice, its mission, and the invaluable role it plays in shaping the future of healthcare.
 
Before we dive into our conversation with Wes, let's take a moment to acknowledge Rare Disease Month. Did you know that Rare Disease Day falls on the last day of February? It was chosen because February, with its rarest day, the 29th, represents the perfect opportunity to raise awareness and celebrate the strength and resilience of individuals affected by rare diseases.
 
Now, let's turn our attention to our esteemed guest, Wes Michael. With his wealth of experience in market research and healthcare, Wes founded Rare Patient Voice in 1998 with a vision to empower patients and caregivers to make their voices heard in the medical research and development process.
 
Insights into Rare Patient Voice:
- Wes shares the inspiring story behind the creation of Rare Patient Voice and what inspired him to establish this organization.
- We learn how Rare Patient Voice connects patients and caregivers with opportunities to voice their opinions on medical products and services, ensuring their voices are heard and valued.
 
Empowering Patient Voices:
- Wes discusses how Rare Patient Voice ensures diversity and inclusivity in the patient populations it represents in research studies and surveys.
- Insights into the role of patient advocacy groups in amplifying patient voices and collaborating with Rare Patient Voice to drive impactful change.
 
Shaping the Future of Healthcare:
- Wes shares his perspectives on the future of rare disease research, patient engagement, and the invaluable role patient insights play in shaping healthcare advancements.
 
Inspiring Action:
- As we wrap up our conversation, Wes leaves our listeners with a powerful message about the importance of elevating the voices of individuals affected by rare diseases and the profound impact they have on shaping the future of healthcare.
 
Rare Disease Month serves as a poignant reminder of the strength, resilience, and unwavering spirit of individuals in the rare disease community. We extend our heartfelt thanks to Wes Michael for sharing his insights and dedication to empowering patient voices through Rare Patient Voice. Together, let's continue to raise awareness, drive change, and advocate for a brighter future for all those affected by rare diseases.
 
Be sure to check out Rare Patient Voices on their website. 
 
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.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this riveting episode of 'It Happened to Me', join co-hosts Cathy Gildenhorn and Beth Glassman as they sit with Dr. Esen Akpek, a leader in corneal and stem cell transplantation. Listen as Dr. Akpek sheds light on emerging research around a groundbreaking synthetic corneal device. This conversation is a beacon of hope for those at high risk of failure from traditional donor corneal transplants and for anyone interested in advancements in ophthalmology.
Discover the intricacies of corneal transplantation, the common eye disorders that affect corneal transparency, and the importance of regular eye check-ups and vaccines in preventing such conditions. Expect a deep dive into the complexities of developing an artificial cornea, the multiple challenges faced, and the potential life-changing impact it holds for individuals around the world.
Led by Dr. Akpek's expertise and research, explore the evolving landscape of corneal transplants, the struggle with rejection rates, and the prospect of an acrylic glass cornea as a more sustainable alternative. Despite the inevitable hurdles in the journey, the promising success rate paints an optimistic future for vision impairment globally.
Be sure to check out Dr. Akpek’s previous interview on Episode #28 where she shared her expertise on dry eye, what it is and what we can do to relieve it.  
Dr. Esen Akpek (she/her) is the Bendann Family Professor of Ophthalmology at The Wilmer Eye Institute, The Johns Hopkins University Medical School. Her area of expertise is in the fields of ocular surface diseases and corneal transplantation. Her current research centers around developing a synthetic corneal device for patients who are at high risk of failure with donor corneal transplantation. She combines the rare characteristics of superior surgical skill and patient empathy. You can learn more about Dr. Akpek on her Johns Hopkins’ listing here. 
We would like to disclose, our co-host Beth Glassman is a patient of Dr. Akpek.  
You can also 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.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.