It Happened To Me: A Rare Disease and Medical Challenges Podcast

#50 Neuromuscular Neurology Explained: Symptoms, Treatments, and Advances with Dr. Bucelli

To celebrate our 50th episode we are honored to welcome Dr. Robert Bucelli on the show. He is a leading expert in neuromuscular neurology and a dedicated advocate for advancing treatments for neuromuscular disorders. 
In this episode, Dr. Bucelli shares his wealth of knowledge on neuromuscular neurology, exploring topics such as:
What neuromuscular neurology entails and who is affected.
The role of genetics in diagnosing and treating neuromuscular disorders.
Common symptoms, risk factors, and diagnostic approaches.
How therapies like physical and occupational therapy play a role in management.
Lifestyle modifications, including diet and exercise, to minimize risk.
The latest advancements in research and treatment, including ASO therapy.
Strategies for coping with the challenges of living with neuromuscular conditions.
Dr. Bucelli has been a practicing neurologist at the ALS Clinic since 2011. He is an Associate Professor of Neurology at the Washington University School of Medicine in St. Louis where he serves as the Site Principal Investigator on several clinical studies relating to ALS.
 
After graduating summa cum laude from Canisius College in Buffalo, New York with a degree in biology, Dr. Bucelli went on to receive his medical degree and PhD from the State University of New York at Buffalo as part of the Medical Scientist Training Program. He then completed an internship in internal medicine and postgraduate residency in neurology at Barnes-Jewish Hospital and the Washington University School of Medicine, followed by a postgraduate Clinical Fellowship Training Program in the Department of Neurology’s Neuromuscular Section, also at Barnes-Jewish and Washington University. He is also a graduate of the Washington University and Barnes-Jewish Hospital Academic Medical Leadership Program for Physicians and Scientists.
 
Dr. Bucelli is expert in diagnosing and treating neuromuscular disorders including amyotrophic lateral sclerosis. He also reads and interprets muscle and nerve biopsies to aid in the diagnostic evaluations of patients seen at Washington University and many additional outside institutions. Dr. Bucelli’s clinical expertise guides exemplary multidisciplinary ALS care in the neuromuscular clinic. His skill in delivering drugs to the fluid surrounding the spinal cord has enabled Dr. Bucelli’s and Washington University’s leadership in trials using to turn off the production of harmful genes that cause ALS.
 
Dr. Bucelli has received numerous awards for excellence in teaching and clinical work at Washington University. He is a five-time recipient of the Eliasson Award for Teaching Excellence and has authored over 40 peer-reviewed manuscripts. He is a frequently invited guest lecturer and presenter at regional and national conferences.
 
Stay tuned for the next new episode of “It Happened To Me” in the New Year on January 6th, 2025! 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. 
 

#49 Living with NMOSD: Alex Brito's Journey of Resilience and Advocacy

In this inspiring episode of It Happened To Me, hosts Cathy and Beth sit down with Alex Brito, a remarkable advocate in the rare disease community and one of the first 100 individuals diagnosed with neuromyelitis optica spectrum disorder (NMOSD). NMOSD is a rare neurological disease that affects an estimated 6,000 Americans, causing severe and unpredictable relapses that can lead to vision loss, chronic pain, and paralysis.
Alex shares her journey, from the challenges of misdiagnosis and temporary paralysis to her empowering outlook on life with NMOSD—she affectionately refers to the condition as “her bestie.” Alex’s dedication to advocating for individuals with disabilities is evident in her work teaching adaptive technology to those with vision loss. Her incredible resilience is matched by her active lifestyle, which includes powerlifting and earning the distinction of being the first blind woman to achieve a yellow belt in Krav Maga.
Listeners will also learn about Alexion's short film, Rare Connections in NMOSD (Accessible Version), which highlights Alex’s story and helps raise awareness about this rare disease.
Key Takeaways:
What is NMOSD, its symptoms, and the challenges in diagnosing this rare condition.
Alex’s personal journey with NMOSD, including vision loss, paralysis, and finding strength in adversity.
The importance of adaptive technology and how Alex empowers individuals with vision loss.
Alex’s inspiring accomplishments as a powerlifter and martial artist.
Insights into Alexion’s short film Rare Connections in NMOSD and its impact on awareness and advocacy.
Resources Mentioned in This Episode:
Watch Alexion's short film, Rare Connections in NMOSD here
Alex mentioned using JAWS, a screen reading program for those with vision difficulties
Support organizations for NMOSD that Alex recommends in the episode are The Guthy-Jackson Foundation and The Sumaria Foundation
Learn more about NMOSD through the organization NMOSD Won’t Stop Me 
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. 

#48 Sudden Cardiac Death with The Dressmaker’s Mirror’s Dr. Susan Liebman

In this episode of It Happened To Me, we are honored to speak with Dr. Susan W. Liebman, a trailblazing molecular geneticist whose work has revolutionized our understanding of protein misfolding diseases such as ALS and Alzheimer’s. Dr. Liebman has spent her career using yeast as a model organism to uncover the mechanisms behind these diseases, advancing the field of molecular genetics.  With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years.
 
Dr. Liebman joins us to discuss her newly released book, “The Dressmaker’s Mirror: Sudden Death, Genetics, and a Jewish Family’s Secret”. The book delves into her family’s journey of uncovering a previously unknown heart disease gene, blending scientific discovery with a deeply personal narrative of love, loss, and resilience.  
 
Key Topics Discussed in This Episode:
- The Discovery of a Genetic Mutation: Dr. Liebman shares how the sudden passing of her niece led to the identification of a deadly mutation in her family and how this discovery has impacted their lives.  
- Understanding Genetic Risks: Insights into the FLNC gene, its role in cardiomyopathy, and how carriers can manage their health.  
- The Role of Genetic Testing and Counseling: How family history and genetic counselors play pivotal roles in guiding families through difficult medical decisions.  
- Barriers to Genetic Testing: Challenges in accessing cardiomyopathy genetic testing and how healthcare systems can address these issues.  
- Balancing Science and Faith: Navigating religious beliefs and social stigmas while providing potentially life-saving medical care.  
- Population-Wide Screening: Ethical and medical implications of screening for genetic mutations prevalent in specific populations, such as Ashkenazi Jews.  
- Inspiring Women in Science: Dr. Liebman reflects on her groundbreaking career as a woman in molecular genetics during an era when the field was male-dominated.  
 
Dr. Liebman’s story is a testament to the power of science, family, and resilience. Through her research and advocacy, she has brought attention to the FLNC gene, which is now recognized by the American College of Medical Genetics (ACMG) as actionable, paving the way for improved cardiac care and genetic testing protocols.  
It Happened To Me Podcast Episodes Referenced:  
#24 Neuro-Ophthalmic Disorders with Dr. Andrew Carey
#27 Prevention of Blindness Society
 
Additional Resources:
The American College of Medical Genetics Actionable Genes List including the FLNC Gene
Dr. Liebman urges families to bank family’s DNA, so it’s available for genetic testing in the future. She specifically recommends Securigene during the interview. 
 
You can win a free copy of “The Dressmaker’s Mirror”! Head over to our Executive Producer’s Kira Dineen’s podcast’s Instagram, X and LinkedIn posts to enter the giveaway. You can also enter the Goodreads giveaway for additional opportunities. Can’t wait to see if you won? Buy a copy of the book through the publisher (with code RLFANDF30) or on Amazon. 
 
You can learn more about the author Dr. Susan Liebman, on her website here. If you are interested in booking her as a speaker check out her Media Kit here, you can reach out to our host Kira Dineen (info@DNAtoday.com) as she is also her Book Launch Agent! 
 
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. 

#47 Living with NAION: Rachel Schreiman’s Journey Through Vision Loss and Advocacy

In this powerful and educational episode of It Happened To Me, we sit down with Rachel Schreiman who turned her personal struggle with vision loss into a mission to support others. Rachel shares her story of resilience after experiencing two episodes of Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION), a rare and debilitating eye condition caused by insufficient blood flow to the optic nerve. These episodes left her with significant central vision loss, but instead of giving up, Rachel embraced a new path.
 
Rachel Schreiman is a CPA and musician who holds an MBA from the University of California, Irvine. In 2019 while working as the Controller for a trade association in Washington DC, she suffered two episodes of Non-arteritic anterior ischemic optic neuropathy (NAION), rendering her legally blind with significant central vision loss. After receiving rehabilitation care and training she started a new "career" devoted to others with low vision. She now works for Dr. Suleiman Alibhai OD, a low vision rehabilitation optometrist, and as a Resource Navigator for the Prevention of Blindness Society of Metropolitan Washington (POB). Both of these positions allow her to give back to others with low vision by sharing information about resources and demonstrating how to use many of the devices, assistive technologies and applications available that allow users to live full and independent lives.
 
Key Topics Discussed:
 
The Onset of NAION: 
Rachel recounts the initial episode of NAION in 2019, the symptoms she experienced, and her journey to diagnosis. She describes NAION as a "stroke in the eye," explaining how lack of blood flow to the optic nerve led to significant vision loss.
 
Risk Factors and Triggers for NAION:
Rachel discusses possible risk factors, such as sleep apnea and cardiovascular issues, which can contribute to the development of NAION. She shares insights into lifestyle adjustments and precautions she now takes to help manage her health.
 
Navigating a Second Episode:  
Five months after the first NAION episode, Rachel suffered another in her other eye. She reflects on the impact of this second event, the rapid response from her medical team, and the steps she took to prepare for further adaptation to vision loss.
 
Diagnosing and Treating NAION:  
Rachel describes the challenges of diagnosing NAION, which can be easily mistaken for other conditions such as multiple sclerosis, brain tumors, or stroke. She also explains the diagnostic process and the types of specialists who are essential for accurate diagnosis and care.
 
Adapting to Vision Loss:
Rachel opens up about the difficult decision to stop driving and the profound impact it had on her independence. She shares the changes she made in her home and daily routines, along with the support she received from her husband and family, which helped her navigate life with low vision.
 
Coping Strategies for Low Vision:  
Rachel reveals the practical and emotional strategies she uses to cope with vision loss, from using assistive technologies to finding new hobbies and ways to stay connected with her passions.
 
Advocacy and Empowerment in Low Vision Care:  
Through her roles with Dr. Alibhai and the POB, Rachel describes her work in educating others about low vision resources, providing hands-on training with assistive devices, and guiding patients and their families through the journey to independence. She also highlights the services POB offers for those with low vision and encourages listeners to seek support early in their vision loss journey.
Resources Mentioned:
 
- Episode 24 with Dr. Andrew Carey – For more on optic neuropathies, including NAION, check out our conversation with neuro-ophthalmic specialist Dr. Carey.
- Episode 27 with Prevention of Blindness – Learn more about POB’s programs and resources for individuals with low vision on POB’s website. 
- Assistive Technology Resources – Recommended apps and devices for managing life with low vision: Seeing AI, VoiceDream, BeMyEyes, Aira. 
 
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. 

#46 Decoding Colon Cancer: Expert Insights on Screening and Genetics from Gabrielle Shermanski

To learn about colon cancer, we are joined by Gabrielle Shermanski. Gabrielle Shermanski completed her Master of Science in Human Genetics at Sarah Lawrence College in 2020. She is a licensed, board-certified Genetic Counselor at Geisinger with 4 years of clinical experience in adult oncology. Gabrielle's primary interests include helping patients with inherited breast cancer syndromes and inherited GI syndromes facilitate further care and communicate results to family members. Gabrielle has a strong interest in education, mentorship, and outreach opportunities. Her hobbies outside of work include cooking and hanging out with her puppy, RJ.
 
During the episode Gabrielle mentioned the National Comprehensive Cancer Network’s colon cancer guidelines, which you can find 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.

#45 Adapting to Blindness Before 30 with Zach Ship

In the second part of our conversation with Zach Ship, hosts Cathy and Beth explore the next chapter of his journey—an unexpected health crisis that led to blindness and hearing loss. 
 
Before listening to this episode, check out the first part of our conversation with Zach about his kidney transplant. This is our previous episode (#44). 
 
While on vacation in Madrid, Zach suffered from encephalitis, or brain inflammation that resulted in a vasculitis, which is effectively a stroke to the eyes. This episode dives deep into Zach’s physical and emotional recovery, the challenges of adapting to a new way of life, and his determination to thrive despite the obstacles.
 
Zach recounts the difficult early days after losing his sight and hearing, his extensive rehabilitation process, and how he rediscovered a sense of purpose through work, blind baseball, and advocacy for the disabled community.
Guest Bio:
Zach Ship is the Director within the Finance organization at Harry’s Inc., where he continues to work full-time after adapting to significant vision and hearing loss. After a health crisis led to blindness, Zach embarked on a new chapter of life, tackling new challenges with optimism and determination. He is passionate about disability advocacy and is involved in blind baseball.
Key Discussion Points:
The Health Crisis in Madrid: While on vacation, Zach began experiencing symptoms of encephalitis, a serious brain inflammation that led to a stroke. He details the events that led to him being hospitalized and the devastating impact on his vision and hearing.
Coming to Terms with Blindness: Zach describes the shock of waking up in the hospital unable to walk, see, or hear properly. He shares his initial emotions and how he began to come to terms with the reality of his new situation.
Rehabilitation and Learning to Adapt: After a month in the hospital, Zach spent an extended period in a rehabilitation facility learning to walk and care for himself again. He reflects on the physical and emotional toll of the rehab process and how he adapted to the challenges of daily life as a blind person.
Returning to Work: Zach shares how Harry’s Inc. supported him during his recovery and the accommodations they made when he returned to work full-time. He offers insights into the workplace adjustments necessary for someone with visual and hearing impairments.
Blind Baseball and Advocacy: Zach found a new passion in blind baseball and has since become a strong advocate for the disabled community. He explains how blind baseball helped him rediscover his love for sports and provided a sense of camaraderie and accomplishment.
 
During the episode Zach mentioned our most popular episode was with Brooke Eby (Episode #16). He also mentioned JAW, Job Access With Speech, which is the world’s most popular screen reader, developed for computer users whose vision loss prevents them from seeing screen content or navigating with a mouse.
 
Check out the upcoming documentary that Zach will be featured in here. If you are feeling generous you can also consider donating to the documentary’s funding here! 
 
Another resource we want to highlight is organdonor.gov, where you can learn more about organ donation.
Zach’s strength and positivity shine through in this episode as he describes how he has adapted to life after losing his sight and hearing. His journey is a powerful reminder that even in the face of immense challenges, it is possible to find new passions and live a fulfilling 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. 

#44 How a Kidney Transplant Saved Zach Ship’s Life at 19

In this episode of It Happened To Me, hosts Cathy and Beth sit down with Zachary Ship, a remarkable individual who has faced incredible health challenges. This is part one of the conversation where Zach shares the powerful story of how his mother, Shari, donated a kidney to save his life. Shari was a guest on our last episode of It Happened To Me (#43). At just 19 years old, Zach was diagnosed with end-stage renal failure due to an autoimmune disease. He takes us through the emotional rollercoaster of receiving a life-saving transplant from his mother while navigating the challenges of young adulthood.
From the first signs of illness as a teenager to his recovery after the transplant, Zach’s journey is one of resilience, family strength, and determination. Tune in to hear how Zach’s life was forever changed and how he adapted after receiving the gift of life from his mom.
Guest Bio:
Zach Ship is the Director within the Finance organization at Harry’s Inc. A graduate of NYU’s Stern School of Business, Zach was diagnosed with end-stage renal failure during his freshman year of college, resulting in a kidney transplant from his mother. Zach’s incredible journey to recovery is a testament to his strength and his family’s support.
Key Discussion Points:
The First Signs of Trouble: Zach shares how a routine urine test for sports led to the discovery of a serious autoimmune disease that attacked his kidneys, forever altering the course of his life.
A Family United: As Zach’s health declined, his mother Shari stepped forward as his kidney donor. Zach describes the process of preparing for the transplant and the emotions involved in receiving such a profound gift from his mom.
Facing Kidney Failure at 19: At an age when most people are focused on college and social life, Zach was told he was in end-stage renal failure. He details the physical toll of renal failure, the symptoms, and the medical interventions required.
The Transplant Experience: Zach explains the transplant surgery itself, what it felt like to receive his mother’s kidney, and how the medical team managed the process to ensure a successful outcome.
Life After the Transplant: Zach returned to school just a month and a half after the surgery, a remarkable recovery. He reflects on the precautions he had to take post-transplant and how he adapted to life after the operation, learning to navigate new health challenges while trying to live a normal college life.
Please help support Zach by making a donation for his team’s travel funds so they can compete in 2024 World Baseball Softball Confederation’s (WBSC) Blind Baseball International Cup taking place just outside of London. The United States Blind Baseball Association (USBBA) is a charitable, non-profit corporation. USBBA is dedicated to the development, management, regulation and promotion of their mixed gender adaptive sport of Blind Baseball.

If you are able to assist us in our 2024 fundraising efforts, please make checks payable to U.S. Blind Baseball Association, and mail to the address below or use these QR codes to send money through Venmo or PayPal. 
 
U.S. Blind Baseball AssociationP.O. Box 312Lindenhurst, NY 11757
 
Another resource we want to highlight is organdonor.gov, where you can learn more about organ donation.
 
Check out the documentary that Zach will be featured in here. If you are still feeling generous you can also consider donating to the documentary’s funding here! 
Stay tuned for the next new episode of “It Happened To Me” where we continue our conversation with Zach to learn about his vision loss and adapting to this disability as an adult! 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. 

#43 Shari Ship on Donating Her Kidney to Son

Shari Ship's story is a remarkable tale of a mother's unwavering love and sacrifice for her son. As a widow and caregiver to her 97-year-old mother, Shari selflessly donated a kidney to her son Zachary, who was diagnosed with a rare autoimmune disease called membranous nephropathy that attacked his kidneys. Despite the challenges of caring for her ailing husband who passed away from lung cancer, Shari remained steadfast in her commitment to her family.
 
When Zachary's condition worsened, leading to end-stage renal failure, Shari made the courageous decision to become a living kidney donor for her son. With the support of her 85-year-old mother and the compassionate medical team, Shari underwent a rigorous testing process, including a psychiatric evaluation, to ensure her eligibility as a donor.
 
The transplant surgery was a success, despite a last-minute scare, and Zachary's life was saved. Shari endured the pain and recovery process with determination, fueled by the immense love for her son. Zachary's immediate improvement, from "drowning in his own fluid" to urinating normally, was a testament to the transformative power of this selfless act.
 
Shari’s inspiring story highlights the strength of a mother's love, the resilience of the human spirit, and the profound impact of organ donation in saving lives. Her unwavering support and her son's remarkable recovery serve as a beacon of hope for families facing similar challenges.
 
Key Lessons
 
Shari Ship's selfless act of donating a kidney to her son Zachary, who later became visually impaired.
 
Shari's courageous decision to donate her own kidney when Zachary's condition worsened, demonstrating her unwavering commitment to her son's well-being.
 
The family's resilience and the power of a parent's love, as evidenced by Zachary being described as "indomitable" despite the challenges they faced.
 
Please help support Shari’s son Zachary by making a donation for his team’s travel funds so they can compete in 2024 World Baseball Softball Confederation’s (WBSC) Blind Baseball International Cup taking place just outside of London. The United States Blind Baseball Association (USBBA) is a charitable, non-profit corporation. USBBA is dedicated to the development, management, regulation and promotion of our mixed gender adaptive sport of Blind Baseball.

If you are able to assist us in our 2024 fundraising efforts, please make checks payable to U.S. Blind Baseball Association, and mail to the address below or use these QR codes on our website (ithappenedtomepod.com) to send money through Venmo or PayPal. 
U.S. Blind Baseball AssociationP.O. Box 312Lindenhurst, NY 11757

Another resource we want to highlight is organdonor.gov, where you can learn more about organ donation.
In the next new episode of “It Happened To Me” we interview Shari’s son Zachary about his perspective on the experience about his health issues. 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. 

#42 Huntington’s Disease with Tanita Allen

In this episode of It Happened To Me, hosts Cathy and Beth are joined by Tanita Allen, a resilient advocate for Huntington’s Disease (HD) and the author of the touching memoir, We Exist. Tanita shares her personal journey with HD, from her initial symptoms and challenging diagnostic process to her current role as a self-advocate and member of The HD Community Advisory Board.
 
Tanita discusses the complexities of living with HD, a condition often described as a combination of Parkinson’s, ALS, and Alzheimer’s. She offers insight into the importance of genetic testing, the impact of environmental factors on her early onset, and the emotional journey of being the first in her family to be diagnosed with this rare genetic condition. Additionally, Tanita shares her five key strategies for maintaining a hopeful disposition in the face of medical challenges.
 
Tanita Allen is a dedicated advocate for Huntington’s Disease and the author of *We Exist*, a memoir documenting her journey with HD. She holds a Bachelor of Arts in Public Affairs and is a certified paralegal. Tanita's advocacy work is enriched by her extensive experience in customer service and sales. She is a member of The HD Community Advisory Board and has been featured in Forbes, where she discussed the significance of self-advocacy and collaboration.
 
Key Discussion Points:
 
Understanding Huntington’s Disease (HD): Tanita describes HD as a trifecta of Parkinson’s, ALS, and Alzheimer’s. She shares her experiences with the hallmark symptoms and discusses the prevalence of HD in the population.
Diagnostic Journey: Tanita opens up about the challenges she faced in receiving a diagnosis, particularly the added complexity of being a Black woman. She details her experience with genetic testing, including the significance of CAG repeats in the HTT gene and how her results correlated with her early onset of symptoms.
Emotional Impact and Family Dynamics: Tanita reflects on how she processed her diagnosis and the emotional toll it took, especially as the first person in her family to be diagnosed with HD. She also shares the story of another family member who was later diagnosed.
Five Strategies for Hope: Tanita outlines the five key strategies she discusses in her book for maintaining a hopeful outlook:Embracing Change and Adapting
Learning from Difficult Moments
The Power of Community
Celebrating Milestones
Making Self-Care a Priority
Advice for Others: Tanita offers parting advice for those facing medical challenges, emphasizing the importance of self-care, community support, and staying hopeful.
Please check out Tanita’s book, “We Exist”. You can order a copy directly from her website, tanitaallen.com. Also check out her Forbes article, “Why Self-Advocacy Can Help You Become An Invaluable Collaborator”. 
 
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. 
 

#41 Dwarfism with Colleen Gioffreda

“The most charming person I have ever met” is how our host Beth describes the guest in this episode, so you are in for a treat. We have the dynamic, charismatic Colleen Gioffreda! Colleen is the Clinical Operations Program Administrator for the Greenberg Center for Skeletal Dysplasias in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. She handles patient inquiries, coordinates the Little People of America (LPA) Medical Advisory Board clinics at the national conferences and regionals, provides school/social resources to patients and parents, and also manages budgets and databases. 
 
In her volunteer life, Colleen is LPA’s Adoption Coordinator, and has helped facilitate the adoptions of over 400 children with dwarfism for the past seventeen years. She is also the Chair of the LPA Conference Management Committee and is a member of LPA’s Medical Advisory Board. 
 
Colleen is lucky enough to answer to the name of ‘Mom’ to her four children, who also all happen to have achondroplasia, the most common form of dwarfism. She views having achondroplasia as an opportunity, and feels fortunate to have experienced such a unique and rich adventure in life. 
 
Since our Executive Producer, Kira Dineen, is also a genetic counselor, she joins as a guest host in this episode. 
 
Episode Highlights:
 
Understanding Terminology and Accommodations:
Appropriate terms for individuals with achondroplasia and skeletal dysplasias.
Vital accommodations for people with dwarfism in various aspects of life.
 
Home Modifications and Misconceptions:
Recommended home alterations for individuals affected by dwarfism.
Addressing misconceptions and stereotypes about dwarfism in her work.
 
Employment and Workplace Challenges:
Employment roadblocks faced by little people and necessary workplace accommodations.
 
Career Path and Key Responsibilities:
Colleen’s journey towards helping the skeletal dysplasia community.
Key responsibilities in her role, including patient inquiries and coordinating medical advisory board clinics.
 
School and Social Resources:
Providing school and social resources to patients and parents.
Importance of this support in managing skeletal dysplasias.
 
Adoption Advocacy:
Motivations for becoming involved in adoption advocacy.
Experiences and insights from facilitating adoptions of children with dwarfism.
Countries with higher frequencies of children with dwarfism waiting to be adopted.
 
LPA Conference Management:
Involvement in the LPA Conference Management Committee and the significance of organizing conferences.
Memorable and rewarding experiences supporting individuals and families.
 
Parental Support:
Approaching support and resources for parents raising children with achondroplasia.
 
Community Advocacy and Medical Collaboration:
Pressing issues within the dwarfism community and advocacy efforts.
Response to FDA-approved treatment for achondroplasia (VOXZOGO® (vosoritide)) and differing viewpoints.
Collaborating with medical professionals and researchers to advance understanding and treatment.
 
Personal and Professional Perspective:
Influence of personal experience with achondroplasia on professional approach.
Current initiatives and projects to support individuals with skeletal dysplasias.
 
Future Hopes and Advice:
Hopes for the future of care and support for individuals with dwarfism.
Advice for professionals and volunteers supporting individuals with rare genetic conditions.
 
Colleen Gioffreda shares invaluable insights into the world of dwarfism, from personal experiences to professional advocacy. Her work with the Greenberg Center and LPA highlights the importance of community, support, and dedicated advocacy for individuals with skeletal dysplasias.
 
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.