The Immune Deficiency Foundation (IDF), a patient organization supporting people affected by primary immunodeficiency (PI), announces the launch of a new website designed to assist persons with Chronic Granulomatous Disease (CGD). CGD is a PI that prevents the body’s cells from producing chemicals to fight off common germs. As a result, a person with CGD is susceptible to severe infections from bacteria, fungi, and other pathogens, and are at risk for excessive and chronic inflammation at sites throughout the body, all of which can be life-threatening if not treated.
The website, www.livingwithcgd.org, provides visitors with: an overview of CGD symptoms, diagnosis, and types; explanations of treatments; guidance on finding support programs; and advice on advocating for a person with CGD. The website also allows users to access information based on where they are in their journey with CGD, including the stages of pre-diagnosis, newly diagnosed, exploring treatments, and planning for the future.
The site is a strengthened and more comprehensive version of an existing CGD website managed by IDF and contains information that is reorganized, expanded, and better aligns with patient needs. Because so many go undiagnosed for years, the new site includes content on pre-diagnosis, specifically the telltale signs of the disease to help families identify symptoms associated with CGD.
The website is aimed at parents of children with CGD but has useful information for anyone who wants to know more about the PI, and is written with attention to the thoughts and concerns of persons with CGD.
“The goal of the website is to assist families in the process with different stages of the journey so that it’s not overwhelming. By breaking the journey down into steps, the family can focus on where they are at the moment,” said IDF Associate Vice President of Community Services Brian Fitzek.
Also featured on the site are personal experiences shared by those affected by CGD.
“One of the things that makes the site so special is that it combines the scientific with the personal. For example, in the pre-diagnosis section, there are families who chronicle the long path to diagnosis,” said Fitzek.
IDF developed the site with support from Horizon Therapeutics, a global pharmaceutical company, which produces treatments for CGD, among other medicines.
Chronic Granulomatous Disease (CGD) is a genetic disorder, typically diagnosed in childhood, in which the body’s cells that eat certain invaders do not make superoxide, hydrogen peroxide, and other chemicals needed to kill particular types of bacteria and molds.
As a result, individuals with CGD have severe infections from bacteria, molds, and other environmental pathogens that do not typically cause infections in healthy people. Individuals with CGD can also have difficulty with immune cells forming knots called granulomas, hence the name of the disease. Additionally, individuals with CGD can develop excessive inflammation even when there is not an infection, which can cause intestinal and urinary problems.
There are five different genetic kinds of CGD. The most common form is called X-linked, because it is on the X chromosome (70% of cases in the U.S) and affects almost only boys.
Treatments include antibiotics, antifungals, steroids, and injectable medications, as well as hematopoietic stem cell transplant and clinical trial gene therapy.
Founded in 1980, the Immune Deficiency Foundation (IDF) improves the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency through fostering a community empowered by advocacy, education, and research.
There are approximately 250,000 people who are diagnosed with a primary immunodeficiency disease (PI) in the U.S. These individuals often find it difficult to receive specialized healthcare, proper diagnosis and treatment. Individuals affected by PI also experience difficulties financing their healthcare, finding educational materials on the disease and locating others with whom to share their experiences.
IDF helps individuals overcome these difficulties so they can live healthy and productive lives. The constant presence of IDF assures patients, their families, and their medical caretakers that there is a place to turn for help.