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

#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.

#40 Overcoming Crohn’s Through Pilates with Ryan Hodgkinson

In this insightful episode of It Happened To Me, we are joined by Ryan Hodgkinson, a highly respected Pilates instructor whose journey into fitness was profoundly shaped by his personal battle with Crohn’s disease. With over two decades of experience in martial arts and personal training, Ryan has developed a unique approach to Pilates that caters to the individual needs of his clients.
Ryan Hodgkinson,  PMA® CPT, ACE CPT, was first introduced to Pilates by his sister Heidi, a licensed Physical Therapist and certified Pilates Instructor, to help him with ruptured discs he suffered as a result of numerous abdominal surgeries.
 
Recognizing the benefits that Pilates provides towards overall health and physical fitness, he completed his 750 hour comprehensive Pilates Machine and Apparatus​​.
 
Certification in 2008 and has been teaching Pilates full-time ever since. In addition to teaching Pilates, Ryan is a Certified Personal Trainer, TRX Instructor and has 23+ years practicing and teaching martial arts. Ryan draws from all aspects of his training and years of experience to create tailored programs for individual client's needs. ​
 
Episode Highlights:
 
Understanding Crohn’s Disease:
Definition: An inflammatory disease causing swelling in the digestive tract, often affecting the small intestine.
Symptoms: Diarrhea, fever, fatigue, abdominal pain, blood in stool, mouth sores, reduced appetite, and more.
Complications: Bowel obstructions, ulcers, fistulas, malnutrition, increased colon cancer risk, and other health problems.
 
Diagnosing and Treating Crohn’s:
Diagnosis: Typically involves a combination of medical history, physical exams, and specialized tests.
Causes and Risk Factors: Unknown exact cause; factors may include immune system triggers, heredity, age, ethnicity, and certain medications.
Treatment: Anti-inflammatory drugs, corticosteroids, immune system suppressors, and biologics.
 
Ryan’s Personal Journey:
Diagnostic Journey: Insights into how Ryan’s journey with Crohn’s began.
Impact of Martial Arts: The role of karate in Ryan’s physical and emotional recovery.
Living with Ostomies: Experiences and challenges during high school and college.
Family and Advocacy: The crucial role of family support and advocacy in coping with Crohn’s.
 
Transition to Pilates:
Career Decision: How Ryan’s health journey influenced his career in Pilates.
Pilates and Chronic Pain: The benefits of Pilates for chronic back pain and overall health.
Misconceptions about Crohn’s: Debunking common myths based on Ryan’s experiences.
 
Incorporating Pilates Principles:
Principles: Concentration, control, core strength, fluidity, precision, and breathing.
Training Programs: Tailoring programs for individuals with chronic pain or post-surgery recovery.
Mind-Body Awareness: Enhancing overall well-being through Pilates.
 
Advocacy and Pain Management:
Alternative Strategies: Advocating for alternatives to opioids, like Pilates and physical therapy.
Personal Insights: Managing pain from scar tissue and nerve issues with specific exercises.
Ryan recommends that people check out ostomy.org for further information.  
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.

#39 Genetic Testing for Rare Diseases with Amy Patterson

Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasias. 
 
Amy Patterson (she/her) is a licensed pediatric and adult genetic counselor in the Johns Hopkins Department of Genetic Medicine. She primarily works with patients in the Greenberg Center for Skeletal Dysplasias as well as the General Genetics clinic. Especially in the skeletal dysplasia space, Amy works to promote a holistic patient experience, including psychosocial counseling, connection with patient advocacy groups, informed consent, genetic testing and interpretation of results, coordination of care, and discussion of research options. Amy was a LEND Fellow and graduated from the Boston University Genetic Counseling program in 2021. She has focused much of her research and clinical work on the intersection of rare conditions, disability, and patient advocacy.
 
Amy initially started advocating in the rare disease space due to her best friend’s sibling’s rare genetic disorder, Congenital Hyperinsulinism. We actually interview their mother on Episode 37 of It Happened To Me. As a high schooler, Amy started educating their peers and community about rare disease on Rare Disease Day every year. After moving to Boston, she started volunteering at a Community Engagement Liaison for the Rare Action Network (RAN), the advocacy branch of NORD, then became the RAN Massachusetts State Ambassador. Through this work, she started putting on Rare Disease Day events at Boston Children's Hospital, and now at Johns Hopkins Hospital as a genetic counselor. Rare Disease Day allows all rare disease stakeholders to come together to share their experiences and continue to learn. Amy is passionate about this global effort to raise awareness and advocate for improved quality of life, diagnosis, and access to care for Rare patients and families.
 
Want to listen to our other episodes with genetic counselors? 
 
In Episode 4, our Executive Producer, Kira Dineen, who is also a genetic counselor, shares how genetic counselors can help people navigate having a rare disease. 
 
In Episode 7, Genetic Counselor Karen Grinzaid explains prenatal and cancer genetic testing. Kira also joins as a guest host since this is her area of expertise. 
 
Want to speak to a genetic counselor? Find one in your area via FindAGeneticCounselor.org.  
 
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. 

#38 Dr. Tara Zier on Stiff Person Syndrome

In this enlightening episode of It Happened To Me, we are joined by Dr. Tara Zier, founder of the Stiff Person Syndrome Research Foundation. Dr. Zier shares her personal journey with Stiff Person Syndrome (SPS), a rare and debilitating autoimmune disorder, and discusses her mission to advance research, treatments, and awareness for this condition.
Introduction:
Dr. Tara Zier, founder of the Stiff Person Syndrome Research Foundation
Background on Stiff Person Syndrome: a rare autoimmune disorder characterized by muscle stiffness and painful spasms
Key Discussion Points:
Understanding Stiff Person Syndrome:
Description and symptoms of SPS
Impact on daily life for those affected
Dr. Zier’s Journey:
Her personal experience with SPS and the path to diagnosis
The challenges faced and the resilience shown
Managing Symptoms:
Current medications and therapies including muscle relaxers, infusions, plasma exchange, physical therapy, and more
Medications and treatments to avoid for SPS patients
Foundation’s Mission and Goals:
The establishment of the Stiff Person Syndrome Research Foundation
Aims to fund research, develop treatments, and find a cure
Collaborations and Achievements:
Partnerships with the Stiff Person Syndrome Center at Johns Hopkins and the Mayo Clinic
Contributions to the global patient community
Insights into Research and Treatments:
Current state of SPS research and available treatments
The importance of raising awareness and public understanding
Role of Patient Communities:
The significance of patient communities in advancing research and providing support
How the foundation fosters connections with patients worldwide
Support Beyond Fundraising:
Additional ways the foundation aids individuals and families affected by SPS
Advice for Aspiring Advocates:
Encouragement and guidance for those looking to establish foundations or support medical research for rare diseases
Personal Reflections:
Stories and experiences from the SPS community that have touched Dr. Zier
Dr. Zier’s personal strategies for maintaining mental health amidst her advocacy work
Future Aspirations:
Hopes and aspirations for the future of the Stiff Person Syndrome Research Foundation
Vision for the field of SPS research and treatment
Closing Remarks:
Dr. Zier’s final thoughts and gratitude for the opportunity to share her journey
Encouragement for listeners to support SPS research and awareness initiatives
Episode Links:
Stiff Person Syndrome Research Foundation
Follow Dr. Tara Zier on Twitter
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.