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Let's Talk! – Chris Simpson

For 35 years, Chris Simpson believed he had common variable immune deficiency (CVID). The real diagnosis — X-linked hyper IgM syndrome — revealed a rare genetic disorder that had been silently damaging his body since childhood. Rather than accept a high-risk transplant or wait for his condition to worsen, Chris became the first person to receive a groundbreaking gene therapy combining base-edited stem cells and base-edited T cells. He shares his remarkable journey from decades of misdiagnosis to becoming a medical pioneer… full article (pdf)

Digital Patient

Using Technology to Find Specialists

If you or a loved one lives with a chronic condition, you know the challenges of being seen by a specialist for your disease. Whether it's rejected referrals or gaps due to primary care referrals, the situation can vary. I spent over a decade on the other side of that problem. Before I went into business for myself, I worked in the pharma industry as a commercial rep. A major focus of my job was understanding the market and calling on the right healthcare professionals (HCPs) depending on the particular therapeutic area and medicine being prescribed. For instance, if we were educating medical professionals about a migraine drug, we would focus on migraine specialists, since neurologists oftentimes had specific subspecialities on which they would focus. To ensure high relevance with our messaging, we had to understand that not all specialists within a specialty treat all diseases. Our strategy, planning and decisions were based on a variety of data points that were not available to patients and primary care doctors… full article (pdf)

Ask the Experts

Reader: Where Can I Locate a Specialist in Immune Dysregulation?

Abbie: The Immune Deficiency Foundation (IDF) has a clinician finder (primaryimmune.org/¬find-pi-specialist) that can be a helpful place to start. While it was originally developed to help patients find specialists experienced in primary immunodeficiency, many of the clinicians listed also have expertise in complex immune disorders, including immune dysregulation and autoimmune complications. IDF may also be able to provide a more personalized list of specialists based on your specific situation. Another excellent resource is the Clinical Immunology Society's "Find an Immunologist" directory (clinimmsoc.org/CIS/Find-an-Immunologist.htm). Unlike many physician directories that focus primarily on allergy and asthma, this directory includes clinical immunologists with expertise in immunodeficiency, immune dysregulation, immunotherapy, rheumatology, hematology and related areas… full article (pdf)