When Branden was just a young child, he was diagnosed with a rare genetic disorder called chronic granulomatous disease (CGD). Now, at 33 years old, Branden is passionate about raising CGD awareness and letting others see that they can still live a full, happy life with CGD and the right treatment regimen. Branden, who studied Sports Medicine and has his Master’s degree in Physiology, currently lives with his wife Kayla and their two black lab puppies, Emory and Belle. In his spare time, he loves spending time outdoors and golfing. He says:

“To me, CGD is something I have learned to live with. It has definitely made me cautious about my environments, and I may go about life a little differently because of it, but I’m proof that you can still live a ‘normal’ life if CGD is managed properly. CGD shouldn’t define you.”

Recently, Branden shared more about his journey with Patient Worthy, including his diagnostic journey, managing his condition, and advice for others living with this condition.

What is Chronic Granulomatous Disease (CGD)?

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disease in which phagocytes (a type of white blood cell) do not work properly. Normally, phagocytes help protect against infection. When they fail to work correctly, people become more susceptible to fungal and bacterial infections. Granulomas (or masses) then form at the site of the infection or inflammation. NCF4, NCF2, NCF1, CYBA, or CYBB gene mutations cause CGD. While CYBB mutations are inherited in an X-linked pattern, the remaining mutations are inherited in an autosomal recessive pattern. While many people with CGD are diagnosed in childhood, some may not receive diagnoses until adulthood.

Symptoms can (but do not always) include:

• Serious bacterial and/or fungal infections, such as fungal pneumonia
• Skin, liver, brain, eye, stomach, and intestinal infections
• Granulomas
• Fever
• Chest pain when inhaling or exhaling
• Stomatitis
• Diarrhea and other gastrointestinal symptoms
• Skin irritation
• Swollen lymph nodes
• A persistent runny nose

Treatments are typically designed to avoid infections. Potential treatment options include antibiotics, interferon gamma-1b injections, and hematopoietic stem cell transplants.

Branden’s Story

When Branden was a child, his parents began to get concerned about a number of different health issues that he was facing. At just one year old, Branden was having recurrent episodes of pneumonia and frequent staph infections. He was also struggling to gain weight. Branden shares:

“The doctors actually declared me as a ‘failure to thrive.’ Because of this, the doctors began testing me for several different conditions, such as allergies, dwarfism, and cystic fibrosis. I was spending weeks in the hospital at a time.”

As many people within the rare disease community know, receiving a diagnosis can be a long and arduous process. It takes an average of 4-9 years for people with rare diseases to receive an accurate diagnosis. Branden explains:

“It took years, several doctors, and a lot of theories before CGD was ever brought up. Fortunately, both of my parents worked in healthcare and were able to explain my situation. I can only imagine how difficult it can be for families who don’t have answers or who haven’t been tested properly for CGD or encouraged to find the right specialist.”

After five years and a visit to an infectious disease specialist, Branden was diagnosed with CGD at six years old. At the time of diagnosis, Branden was prescribed trimethoprim-sulfamethoxazole and ACTIMMUNE (interferon gamma-1b) to help manage his symptoms. Seven years later, doctors also added itraconazole to his treatment regimen to help him manage his condition.

Learning to Live with CGD

As he grew older, Branden needed to learn how to best manage his disease and his health. When he was fifteen years old, he asked his mother Dawn if he could go on vacation for spring break. She told him no – not until he was able to administer his own treatment injections. Branden shares:

“It was really the first time in my life that I could potentially miss out on something due to having CGD. So I learned and began administering my own injections. I was always very diligent and being at home also helped keep me on track, since my parents were always monitoring.”

However, learning to manage his condition was not always easy. During his sophomore year of college, Branden had a major slip-up in his medication management. As a result, he ended up hospitalized for around two weeks with a severe case of pneumonia. He says:

“I know now how important the two minutes out of my day to administer my injection are. Those two minutes help me to live a healthy life. So I’m a big proponent of adhering to the treatment plan in place with your doctor.”

Raising CGD Awareness

Throughout his journey, Branden credits his parents for being his staunch supporters. Especially now, Branden and his mother are committed to helping other families understand how to live a full life with CGD. He shares:

“We don’t want people to have to go through that period of ‘unknown’ that we did as a family. The more I can help others feel empowered, the better I feel. Simply reading about CGD is scary! When I was diagnosed, nobody knew if I would even live past twenty years old. I feel so lucky to have been surrounded by some great people in my healthcare journey. Now, I want other patients and their families to have support and know that life isn’t over with the diagnosis.”

Sharing his story is only one way that Branden advocates for those within the chronic granulomatous disease community. Branden encourages people to work with their doctors for a treatment plan that works for them and to not underestimate the impact of proper disease management. He also advocates for people to learn more about genetic testing, explaining:

“Since CGD can be passed down from mothers who are X-linked carriers, families should know more about, and engage in, genetic testing. My family has been tested. My brother doesn’t have CGD and it’s still undetermined if my sister is a carrier. Knowing this information can better prepare your family.”

Finally, Branden raises awareness because he wants families to know that they are not alone. Outside of himself and others with CGD, there are clinical nurse educators (CNEs) from Horizon Therapeutics that, if enrolled for support, can help with CGD education, insurance issues, family testing, and injection training. Patient advocacy groups also offer support, testing, and resources.

In the future, Branden hopes that there will be increased research into CGD to improve the lives of those affected. He feels encouraged by gene therapy and other potential treatment options on the horizon. And as we wait to see what the future will bring (hopefully a cure!) Branden will continue to share his story as much as he can.