Learning that you or a loved one has CGD can be overwhelming. You may be feeling anxious, confused, and probably filled with questions. What does this diagnosis mean? What happens next? Where do I look for treatment? How do I cope with this news? Where can I go to get my questions answered? What are my next steps? Take a breath. You are not alone. The Immune Deficiency Foundation has a deep understanding of the challenges and emotions you are facing and there are many people, organizations, and resources to help you along your journey.
Your next few months will likely be busy, as you explore treatment and care options, navigate the health care system, and figure out insurance and more. Knowledge is power so learning about the disease is the first step towards empowerment and living a healthier life.
Chronic Granulomatous Disease (CGD) is a type of primary immunodeficiency disease (PI) in which one group of the body’s white blood cells, called neutrophils, fail to make the hydrogen peroxide, bleach and other chemicals needed to fight bacterial and fungal infections. As a result, patients with CGD have trouble preventing the start of infection. In an attempt to control infection, masses of neutrophils and other immune cells continue to gather at the site of infection forming large groups of these cells called granulomas, hence the name of the disease. While small granulomas are microscopic in size, sometimes the granulomas get so large that they form “knots” of sufficient size to be felt and seen, and can obstruct the bowel or the emptying system of the urinary tract. CGD is not contagious—it is caused by hereditary or genetic defects.
The good news is that patients with CGD can defend against most infections. Patients with CGD have normal immunity to most viruses and partial to full immunity to many types of bacteria and fungi naturally found on their skin, in their bowel or in the environment, which is why they are not infected all the time. They may go months to years without infections and then have a severe one. Patients with CGD make normal antibodies, so are not particularly susceptible to viruses and generally do not need antibody replacement treatments.
Managing your Healthcare
You will likely be provided a great deal of unfamiliar medical information in the months following your diagnosis. It may be helpful to maintain a dedicated journal and write down all of your questions to discuss with your physician. Use the journal to take notes during all your appointments. Knowing as much as you can about your situation will empower you as you move forward.
For many CGD patients and their families, the new diagnosis can be intensely emotional. It is normal to experience a range of different feelings—sadness, denial, grief, fear, frustration, anger. It’s important when you first receive such a diagnosis to just let those feelings happen and experience them. It takes time to come to terms with the diagnosis but eventually, you can learn to handle these feelings and live a fulfilling life.
Maintaining Your Everyday Well-Being
Life is going to change, but life is still happening. It may be time to adjust life, but not abandon it. A CGD diagnosis affects more than just the patient. It can be stressful for an entire family and it is not unusual to experience strain. For couples, keep the lines of communication open. If you have children, arrange for some alone time. Minimize stress by shedding unnecessary obligations. It is important for PI patients and their families to attend to their emotional health as well as their physical health.
Sharing your Diagnosis
Sharing your diagnosis with others can be a source of comfort, but it can also be stressful. Deciding on the right time for you is important. It is fine to wait until you make sense of the diagnosis yourself before you share with others. You may feel more comfortable sharing the news after you’ve done your own research and discussed with your doctors. Who you tell and when you tell them is a personal choice. Take this step in the way that is most comfortable for you.
Many individuals living with CGD find the support they need through a network of friends. Discover one family’s encouraging story from diagnosis to living a full life with CGD.