Primary Immunodeficiency Q & A: an IDF Podcast

Season 2 premiere. Dr. Nicole Rochester discusses social determinants of health, as well as ideas for creating more equitable living conditions for optimal public health. Follow Dr. Rochester on LinkedIn: https://www.linkedin.com/in/nicole-rochester-md To learn more about primary immunodeficiency, to donate, or to volunteer, visit https://primaryimmune.org/donate. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Dr. Joud Hajjar provides an explanation of the causes and potential treatments for symptoms of fatigue with primary immunodeficiency. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors. TRANSCRIPT: https://primaryimmune.org/sites/default/files/PI%20and%20fatigue%20podcast.pdf View a pdf of this presentation: https://primaryimmune.org/sites/default/files/2024-2-28-IDF-Fatigue.pdf

Darcy Gott shares stories of risks involved with having PI as a college student, from mismanaged university health systems to pressure to fit in, and beyond.

One of the most universal issues those with primary immunodeficiency face in the U.S. is simply navigating a complicated medical system. Getting a referral to an immunologist can feel absolutely insurmountable, even before the inevitable struggles with prior authorizations and annual reviews from insurance companies for life-changing, or even life-saving, medication. On this episode of Undiagnosed, Dr. Kelley Hagerich describes the unique shame and difficulty she experiences as a physician with primary immunodeficiency. Find Dr. Hagerich on LinkedIn: https://www.linkedin.com/in/kelley-hagerich-md-mph-facp-dabom-13896129/ The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors. How Healers Heal: https://www.amazon.com/How-Healers-Heal-Physicians-Transforming/dp/1961549018/ref=sr_1_1?hvadid=676936602450&hvdev=c&hvlocphy=9012709&hvnetw=g&hvqmt=e&hvrand=5896383303205199856&hvtargid=kwd-2187558197162&hydadcr=22192_13517500&keywords=how+healers+heal&qid=1703012579&sr=8-1

**This conversation includes the topics of suicidal and self-harm ideation. We understand that not everyone is capable of hearing such conversations. Viewer discretion is advised.** This episode of the IDF Podcast is presented with support from Takeda, Horizon Therapeutics, CSL Behring, and Grifols. On this episode of The IDF Podcast, we turned to six young people who are longtime volunteers, Cassie Mummert, Darcy Gott, Ethan McGrew, Jesse McCall, Lance McCall, and Victoria Medl to discuss how they navigate the stress of college, postgraduate studies, and mental wellness with primary immunodeficiency. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Dr. Don Kohn of UCLA provides an update on emerging gene therapy treatments for ADA-SCID. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Rob Gorski shaped the way we discuss parenting for neurodivergent children with his acclaimed blog, The Autism Dad. While all three of his sons are on the autism spectrum, his eldest son, Gavin, is diagnosed with CVID, as well. In this episode of Undiagnosed, Rob candidly discusses his family's journey, mental health, and the struggle of impossible decisions. Read Rob's blog at https://www.theautismdad.com/. Transcript: https://primaryimmune.org/sites/default/files/TRANSCRIPT%20-%20Father%20and%20Son.pdf This episode is presented with support from Takeda, Horizon, CSL Behring, and Grifols.

Dionne Stalling, founder of Rare and Black, discusses her decades-long journey to PI diagnosis with Dr. Rochester.

Immune Deficiency Foundation CEO Jorey Berry provides an update for October 2023.

Drs. Nicole Rochester and Vivian Hernandez-Trujillo discuss disparities in PI, language barriers, rebuilding trust, and the importance of meeting communities where they are. TRANSCRIPT: https://primaryimmune.org/files/transcription-ep-4-bcpdf Find Dr. Hernandez-Trujillo on LinkedIn: https://www.linkedin.com/in/vivian-hernandez-trujillo-608207a/ Find Dr. Rochester on LinkedIn: www.linkedin.com/in/nicole-rochester-m-d-40700812 The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Dr. Jay Bhatt, Deloitte's Managing Director Center for Health Solutions and Health Equity Institute, joins Dr. Rochester to discuss the business and economic case for investing in health equity. "US health care can't afford health inequities": https://www2.deloitte.com/za/en/insights/industry/health-care/economic-cost-of-health-disparities.html Transcript: https://primaryimmune.org/files/transcript-bold-conversations-dr-jay-bhattpdf Find Dr. Bhatt on LinkedIn: https://www.linkedin.com/in/dr-jay-bhatt/ Find Dr. Rochester on LinkedIn: www.linkedin.com/in/nicole-rochester-m-d-40700812 The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Academy Award-nominated writer and producer Emily V. Gordon joins Tracy Shaw during the 2023 PI Conference to discuss vulnerability, storytelling, limits, and working in Hollywood with a primary immunodeficiency. Transcript: https://primaryimmune.org/files/transcript-fireside-chat-with-emily-v-gordonpdf

The saga of popular Twitch personality Ironmouse's life reads much like the anime stories from which she finds inspiration: A talented young woman's dreams are smashed by illness and circumstance, yet she, in her innate desire to provide for those she loves while making the world a friendlier, sillier, and more musical place, creates a path of her own to unimaginable success. Transcript: https://primaryimmune.org/sites/default/files/Undiagnosed%20Ironmouse%20transcript.pdf The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors. Your support of IDF helps ensure people like Ironmouse get the support they deserve. Donate here: https://primaryimmune.org/idf-online-donation twitch.tv/ironmouse

Popular YouTube and Twitch personality CDawgVA talks about his history growing up in Wales, moving to Japan to pursue voice acting, and how meeting his friend Ironmouse led him to raise money for IDF. Transcript: https://primaryimmune.org/sites/default/files/Connor%20Podcast%20Transcript.pdf Your support of IDF helps make programs like this possible. To donate, volunteer, or learn more, visit primaryimmune.org/donate. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Dr. Lauren Sanchez delivers a talk on the complicated and emotional process of SCID and PI patients transitioning from pediatric to adult care. Transcript: https://primaryimmune.org/files/edittranscript-transition-carepdf To view the video of this presentation on YouTube, click here: https://www.youtube.com/watch?v=aKl7tZJiiZc Click here to view a PDF of this presentation: https://primaryimmune.org/sites/default/files/FOR%20WEB%20-%20Sanchez%20Transition%20of%20Care%205-31-23%20FINAL.pdf IDF Transition Guide: https://primaryimmune.org/publication/patients-and-families/immune-deficiency-foundation-guide-young-adults Your support of IDF helps make programs like this possible. To donate, volunteer, or learn more, visit primaryimmune.org/donate. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Transcript: https://primaryimmune.org/sites/default/files/TRANSCRIPT%20--%20Undiagnosed%20Episode%202.pdf A cut on the roof of your mouth. A step in a shallow puddle during a game of backyard football. Potting soil beneath your fingernails. Occurrences like these are, at worst, minor inconveniences for most of the world. However, they can lead to weeks or months of agony for some. This reality is made even harsher for someone who finds profound joy in the simplicity of growing flowers from tilled earth. Someone like Shane – who has to take extreme caution when performing the most calming of hobbies. Before being diagnosed with chronic granulomatosis disease, or CGD, Shane suffered intense, frequent infections that left him hospitalized for weeks at a time, and with a reluctant dependence on opioids. This is his story. Undiagnosed is an Immune Deficiency Foundation production. Your support of IDF helps to ensure that people like Shane get the resources, education, and community support they need to live healthier, happier lives. To learn more about PI, to volunteer, or to donate, visit primaryimmune.org/donate. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Dr. Stacey Clardy (Associate Professor of Neurology at the University of Utah, Salt Lake City VHA) answers questions from the PI community about her clinical study: Neurological Manifestations of CVID. For a transcript of this podcast, click here: https://primaryimmune.org/sites/default/files/FINAL%20-%20Neuro%20pod%20Q%26A%20transcript.pdf Dr. Clardy's paper on neurological symptoms in CVID: https://nn.neurology.org/content/10/3/e200088 The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Dr. Sherita Golden (Vice President and Chief Diversity Officer, Professor at Johns Hopkins Medicine) joins Dr. Rochester to discuss the roots of medical mistrust among Communities of Color – from historical examples such as the Tuskegee Syphilis Study to contemporary and personal examples that marginalized individuals understand all too well. For a transcript of this episode, click here: https://primaryimmune.org/sites/default/files/Bold%20Conversations%20episode%202%20transcript.pdf Study on confidence in the U.S. healthcare system: https://www.ihi.org/about/news/Documents/IHIPressRelease_ABIMFPilots_March2023.pdf Find Dr. Golden on LinkedIn: https://www.linkedin.com/in/sherita-golden-4388a9202 Find Dr. Rochester on LinkedIn: https://www.linkedin.com/in/nicole-rochester-m-d-40700812 The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Series premiere. On average, it takes nine to fifteen years of untreated illness to be diagnosed with and treated for a Primary Immunodeficiency. Recent studies estimate that 70 - 90% of those with PI do not yet have a diagnosis. You're listening to Undiagnosed – an Immune Deficiency Foundation podcast. These are the true stories of the harrowing journey to diagnosis. Imagine an energetic young girl. As the oldest of four children under the age of five, she's the caretaker of her siblings. She's a bit of a teacher's pet, and has an inquisitive mind. She does well in school despite being constantly on the move as the daughter of a Naval officer. She's the type of child who goes ice skating in the winter and eats carrots straight from the garden. You'd likely never assume that a debilitating illness would alter every aspect of that young girl's life – because that illness is invisible to everyone but her. For that energetic young girl, much of the story of her life would be colored by missed opportunities for proper care… by a complex web of unrelated but entangled health issues that pointed to a larger problem no one would understand for more than six decades. That young girl is Sandy. This journey is hers. Your support of IDF helps to ensure that people like Sandy get the advocacy, education, and community support they deserve. To donate, volunteer, or learn more about primary immunodeficiency, visit www.primaryimmune.org. The views and opinions expressed are not necessarily those of IDF, its donors, employees, or Board of Trustees. Follow IDF on social media: YouTube: https://www.youtube.com/channel/UC-e7Jua_piexR70CVoaofYw Facebook: https://www.facebook.com/ImmuneDeficiencyFoundation/ Twitter: https://twitter.com/IDFCommunity Instagram: https://www.instagram.com/idfcommunity/?hl=en

Series premiere. Dr. Nicole Rochester, IDF's Medical Advisor for Health Equity, discusses the differences between equality and equity, where disparities in health equity can be found, and some of the consequences of a healthcare system that erodes the trust between patients and physicians.

Dr. M. Elizabeth M. Younger of Johns Hopkins University School of Medicine joins IDF's Lynn Albizo and Stephanie Steele to discuss issues surrounding the use of Skilled Nursing Facilities for patients with Primary Immunodeficiency. Ask IDF: http://primaryimmune.org/askidf The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Sarah C. Glover DO (Professor of Medicine, University of Mississippi) answers community questions about the relationships between gastrointestinal issues and primary immunodeficiency. To view the video of Dr. Glover's full presentation, click here: https://www.youtube.com/watch?v=62Ns3X-Ry6Y Scholarly article: Clinical Presentations, Diagnostic Considerations, and Therapeutic Options for Gastrointestinal Manifestations of Common Variable Immune Deficiency -- https://journals.lww.com/ajg/Abstract/2022/11000/An_Expert_Opinion_Approach__Clinical.14.aspx

Dr. John W. Seymour, PhD, LMFT (Professor Emeritus and Distinguished Faculty Scholar at Minnesota State University, Mankato)discusses the links between mental and physical health, and how individuals with PI can best care for minds. Click here to view a PDF of the presentation: https://primaryimmune.org/sites/default/files/2022%20PI%20Conference-Connection%20Physical%20Mental%20Health-Seymour.pdf Ask IDF: http://www.primaryimmune.org/askidf Donate or volunteer: https://primaryimmune.org/waystogive

Alissa Creamer (IDF's Director of Community Services) and Melissa Raspa (RTI's Senior Research Public Health Analyst) discuss the successes of the 4-year SCID Compass program. SCID Compass Website: https://scidcompass.org/ RTI International: https://www.rti.org/ PI and Travel: https://primaryimmune.org/travelling-with-pi The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

IDF's own Colleen Brock (RN, Manager of Medical Programs) and Stephanie Steele (Director of Payor Relations and Policy) give a presentation on making sure you, as an individual with PI, have the tools you need to get the care you deserve. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors.

Returning to In-Person Events IDF's Tammy Black and Alissa Creamer discuss the organization's return to in-person events, as well as the safety protocols and virtual offerings available at the upcoming Walk for PI and PI Conference events. IDF Clinician Finder: https://primaryimmune.org/clinician-finder Walk for PI: https://www.walkforpi.org/ Primary Immunodeficiency Conference: https://web.cvent.com/event/1593c0cc-9b7b-4ffc-9f24-d4964dda8206/summary

2022 is already more than half over, so we at IDF are reflecting on the goals we've set, and the progress we've made toward meeting them. On this episode, Jamie Sexton, director of state policy, and Becca Russ, grassroots advocacy specialist, discuss the organization's advocacy work at a state level so far this year, and the progress we've made toward improving the lives of those in the PI community. Faces of IDF: https://primaryimmune.org/faces-idf I Am Immunocompromised Card: https://primaryimmune.org/immunocompromised-card Action Alerts: https://primaryimmune.org/current-action-alerts

M. Elizabeth Younger, CRNP, PhD, Assistant Professor of Pediatrics at Johns Hopkins University School of Medicine joined us at a recent IDF forum to discuss immunoglobulin replacement therapy and the various ways it can be tweaked to fit each patient's unique needs. The information, terminology, and opinions presented in this forum do not necessarily reflect the views of IDF, its Board of Trustees, sponsors, or donors. To view the slideshow used in the presentation, click here: https://primaryimmune.org/sites/default/files/4-For%20Website-IDF%20Forum-Ig%20Therapy-FINAL-5.19.22.pdf Thank you to Takeda, CSL Behring, Grifols, and Accredo for sponsoring this event.

Dr. Arturo Casadevall is a Bloomberg Distinguished Professor of Molecular Microbiology & Immunology and Infectious Diseases, as well as a recent inductee to the National Academy of Sciences. Today, he joins us to discuss his research into convalescent plasma in the fight against COVID-19.

Tammy Black sits down with IDF's new President and CEO, Jorey Berry, to discuss surprises and goals after her first few months with the organization.

When a child is diagnosed with Severe Combined Immunodeficiency or SCID, not only is the child affected but the family is as well. In this episode, we will be talking with certified child life specialist, Samantha Childs, MS, CCLS about the importance of supporting siblings of children with chronic illness, specifically SCID. This session was originally presented as a SCID Compass Lunch and Learn.

Being diagnosed with a rare disease like PI can be intimidating, as well as confusing. Hear from panelists, Nicole Rochester, MD, Mary Hintermeyer, APNP, and Brian Rath, JD as they review some important questions and information that you should use when discussing your diagnosis concerns with your healthcare provider. This session was originally presented as an IDF Forum.

For those living with rare diseases, such as PI, it is important to have a strong voice in state government and advise policymakers on critical issues related to access, coverage, and the diseases themselves. Many state policymakers are unaware of the challenges the rare disease community faces. To help bridge these gaps in knowledge, Rare Disease Advisory Councils or RDACs are created. RDACs serve as an advising body and liaison between the rare disease community and state governments. With us today to discuss their work with RDACs in their state is a panel of IDF advocates: Jessica Goddard and Rachel Goddard from South Carolina, and Marian Furst from Utah.

According to the Bureau of Labor Statistics, employment in science, technology, engineering, math fields (otherwise known as STEM), is projected to grow twice as fast in the next decade as for all occupations. Even so, a recent Pew Center study reported that only 7% of recent graduates in STEM fields were Black students. In today's episode, we will be talking with two experts, Dr. Nicole Rochester and Alexis Mobley, to help us gain a better understanding of how to address these concerns and why it matters.

Chronic Granulomatous Disease or CGD, one of the rare forms of primary immunodeficiency, causes an increased susceptibility to infections caused by certain bacteria and fungi. In today's diagnosis-specific episode, we will be exploring treatment options, particularly Bone Marrow Transplant, or BMT for CGD with Felicia Morton and Dr. Vinod Prasad.

In this SCID Compass episode, we will be talking with two research specialists, Virdette L. Brumm, Ph.D., and Sharon A. Kidd, MPH, Ph.D., from the Primary Immune Deficiency Treatment Consortium or PIDTC to discuss a collaborative study on assessing neurodevelopmental outcomes in SCID patients. This session was originally presented as a SCID Compass Lunch and Learn.

In this episode, we will be addressing payer challenges as well as discussing the ability to ensure access to genetic testing with Manish Butte, MD, Ph.D., and Abraham Yunis, MBA. This session was originally presented during IDF's Rare of the Rare Summit in October.

Are you interested in learning more about clinical research trials that are available for you? In today's episode, we will be discussing important information about clinical trials with Jason Bradt, MD, Ali Smyth, Ph.D., and Elizabeth(Buffy)Garabedian, RN, MSLS. This session was originally presented during IDF's Rare of the Rare Summit in October.

Undergoing treatment for Severe Combined Immunodeficiency or SCID involves months in the hospital as well as months of isolation. Today, we will be speaking with Rachel Homer about how her family navigated isolation, especially during the pandemic.

As the Coronavirus progresses, the COVID-19 vaccine continues to be our best form of protection against the deadly virus, especially for those living with primary immunodeficiency or PI. The CDC recommends all individuals who are 12 years old and older receive a COVID-19 vaccine. In today's episode, we will be discussing the importance of the COVID-19 vaccine, specifically for teens, with a panel of Teen Leaders.

One of IDF's many great initiatives, IDF Walk for Primary Immunodeficiency, unites all members of the PI community to help create better lives for those living with these rare, chronic disorders. You can register for an IDF Walk for PI in your area as a participant or as part of a team. Many teams are created for the walks and are led by enthusiastic Team Captains! With us to discuss being a team captain is Rachel Novak, the team captain of Team Cats Peeps.

For those living with primary immunodeficiency, awareness about these rare, chronic disorders is crucial. Listen as influential leaders within the PI community, Harper Spero, Carol Ann Demaret, Autry Beamon, and John Robison, discuss the misconceptions, public portrayals, and general understanding of PI.

As our nation grapples with issues of bias and racism, we have an obligation to address racial disparities in the PI community, in medicine, and in society at large. Listen as our panelists, Nicole Rochester, MD, FAAP, Michele Andrasik, PhD, and Vivian Hernandez-Trujillo, MD discuss the importance of achieving health equity by increasing opportunities for everyone to live their healthiest life possible, no matter who they are.

Plasma-derived therapies are used daily by thousands of individuals around the world with chronic, rare conditions. Because of its diverse and lifesaving uses, knowledge of plasma-derived therapies and plasma donation is critical. Here with us to discuss the ethics of plasma is a panel of influential leaders, Mark Skinner, JD, Johan Prevot, Val Bias, and Peter Jaworski, Ph.D. This episode was originally presented during IDF's 2021 PI Conference in June.

While we usually dive into topics that are medical in nature, we wanted to take the opportunity today to talk with a subject matter expert of a different type - IDF Interim CEO, Kathryn Stephens. Kathryn Stephens joined the IDF team in mid-April as Interim CEO of IDF. She comes to us with more than 20 years of experience in nonprofit management. Listen as we discuss her work as well as examine her role as Interim CEO.

As part of the blood screening during a newborn screening at birth, doctors measure the T cell receptor excision circles or TRECs to test if they are within a normal or abnormal range. Abnormal TREC results could mean that a baby has Severe Combined Immunodeficiency or SCID, or it could be a different condition associated with the immune system. It is essential to learn about the medical steps parents should take if their child has an abnormal result and is diagnosed with low T cells. We will be discussing these medical steps further today with Dr. John Routes.

Wiskott-Aldrich Syndrome or WAS is a unique form of primary immunodeficiency. WAS primarily affects males because it’s an X-linked recessive condition and is characterized by abnormal bleeding and eczema of the skin. To discuss WAS further, we will be talking with our guest, Sumathi Iyengar, the Executive Director of the Wiskott-Aldrich Foundation. Dr. Iyengar is a pediatrician-turned-advocate for WAS after her son was diagnosed at a young age. She is a partner and longtime friend of IDF.

Many people living with primary immunodeficiency rely on injectable medical therapies such as immunoglobulin replacement therapy, or Ig, to maintain healthy lives. Receiving these infusions can be frightening to those who are afraid of needles, and can challenge anyone who has to receive multiple needle pricks. Beyond needle pain, people with PI may also be living with chronic pain, causing issues such as arthritis, inflammation, or muscle aches. Pain management is crucial and necessary to help those suffering from acute or chronic pain. We discuss pain management further with Dr. Amy Baxter, the CEO and Founder of Pain Care Labs and the inventor of the physiological pain blocker product, Buzzy. Buzzy and other Pain Care Labs products can be found on www.paincarelabs.com or www.amazon.com.

Receiving advice or support after diagnosis of a genetic condition can be overwhelming for families. One resource for information about the condition and for counseling related to living with the uncertainties and the concern about your child is genetic counseling. Genetic counselors work alongside your medical team to advise individuals and families affected by genetic disorders like Severe Combined Immunodeficiency, or SCID. Listen as Dr. Barbara Biesecker shares her expertise in genetic counseling.

As we continue to battle COVID-19 into 2021, everything around us seems to be changing - attending school is now virtual, seeing our friends is done socially distant while wearing a mask, vacation plans are being canceled or rescheduled, and so much more. For teens living with PI, fear, anxiety, and loneliness may be overwhelming, as many try to stay isolated to keep themselves healthy. Today, we will be talking with a panel of young adults living with PI to discuss how they have coped during the age of COVID-19, including some tips and tricks to feel less isolated while staying at home.

Severe Combined Immunodeficiency, or SCID, is a life-threatening primary immunodeficiency, typically diagnosed at birth. Early detection is critical for these children, as is the prevention of infection and early treatment. With early treatment, most children with SCID should be able to develop their own working immune system. While most families tend to focus on the best course of treatment, such as hematopoietic stem cell transplantation or gene therapy, long-term care or follow-up is necessary to maintain a healthy life. Here with us to discuss the importance of long-term follow-up after treatment is Jolan Walter, MD, PhD.