A society is defined by how it advocates for its most vulnerable.
Recently, the 2013 Immune Disease Foundation (IDF) National Conference “Back to Baltimore” brought together a community of patients, families, advocates, and healthcare professionals who have one thing in common—they’ve all been impacted by Primary Immune Disease. The 7th national conference provided the primary immune disease community a rare opportunity to hear, share, learn, and connect with one another. Friendships and memories made are now available to download and share on the IDF Flickr page
My colleague and I had the opportunity to participate in this educational and emotional event through the sponsorship of Vidara Pharmaceuticals. Seeing first-hand the emotional and physical impact of these diseases is heartbreaking and inspiring at the same time. A society is defined by how it advocates for its most vulnerable.The genuine connections forged between people battling these rare diseases and the healthcare professionals and researchers striving to find treatment options are unmatched outside the rare disease community.
An Introduction to the Immune Disease Foundation (IDF)
The IDF is dedicated to raising awareness around rare primary immunodeficiency (PI) disease and to making that knowledge contagious by encouraging the community to THINK ZEBRA. According to the IDF, in medical school, many doctors are taught, “When you hear hoof beats, think horses, not zebras,” –focus on the likeliest possibilities when making a diagnosis, not the unusual ones. Patients with PI are the zebras of the medical world.
Since 1980, IDF has provided accurate and timely information for the nearly quarter-million Americans who have been diagnosed with a primary immunodeficiency disease. Governed by a Board of Trustees, and supported by a Medical Advisory Committee comprised of some of the world’s leading clinical immunologists, as well as hundreds of grassroots volunteers and a compassionate, professional staff–IDF has provided individuals and their families with vital knowledge and made tremendous strides such as:
• Newborn Screening for Severe Combined Immunodeficiency (SCID)
• The Medicare Patient Access Act.
Connecting the Chronic Granulomatous Disease (CGD) Community through IDF
CGD is one of those rare zebras included in the group of diseases broadly referred to as a primary immunodeficiency; meaning there is nothing causing or underlying the disease. CGD prevents the immune system from making the chemicals needed within cells to fight off serious, often life-threatening infections caused by common environmental bacteria and fungi. It can be caused by one of several inherited genetic abnormalities. X-linked CGD affects primarily boys and accounts for approximately 65% of all patients, while autosomal recessive CGD affects males and females equally and accounts for the remaining 35% of patients.
I had the privilege of participating in a workshop specifically designed to understand the challenges of living with this rare disease. The participants ranged from patients themselves to caregivers of teens and even toddlers. I was humbled and impressed by the genuine openness expressed as participants shared unique struggles and common experiences. I learned that most importantly people are looking for connection in others who understand what they’re facing and to ask questions common to so many patients and families facing the challenge of living with a rare disease. Where can I find a doctor who understands? Where can I find trustworthy guidelines for staying healthy? Can I trust what I read on the internet? How do I talk to my child’s school? Is there anyone else out there like me?
Learn More about CGD and PI
It was encouraging to hear during the CGD workshop that several specialists actually steered their patients away from the overwhelming barrage of information on the internet, and directly to the published scientific study reports where healthcare professionals go for information. However, while you can’t believe everything you read on the internet, or even most things for that matter, there are some very reliable sources of information available online including the following advocacy organizations: