From patient to new mom: A CGD carrier’s experience

Justine Uran, 31, of Minneapolis, has a unique story in the chronic granulomatous disease (CGD) community. Justine is a CGD carrier, patient with CGD, and the mother of an infant son who also has CGD.

Although CGD is more common in males, female carriers can also suffer from CGD symptoms if they have a low percentage of functioning neutrophils, which is also referred to as “the lionization ratio.” For female CGD carriers who are “highly lionized,” the road to diagnosis can be even more difficult, as they may appear healthy for many years until a major infection strikes.

Justine describes her childhood as normal until she reached 10 years old. Then, one day, the lymph nodes in her neck became severely infected, and her world changed.

“From that time on, I was in and out of the hospital constantly to have surgery after surgery on my neck to remove infections that kept coming back,” said Justine. “The doctors gave every test they could think of, and they could not figure out what was wrong with me. I had to miss a lot of school, and it was a very difficult time for our family because we didn’t know what was going on.”

Finally, her parents consulted an immunologist who ran an NBT (nitroblue tetrazolium) test. The results showed she only had 30 percent positive or “normal functioning” neutrophils; she was finally diagnosed with a mild form of CGD at the age of 12.

Her doctors prescribed interferon gamma, and her life became normal once more, she said. She still had infections, but she was never hospitalized again. She was able to attend school like everyone else, and she even played on her high school and college basketball teams. Sports, she said, were the key to her sense of well-being.

“I had this feeling of not fitting in ­ – either in the adult world of doctors or the kid world at school,” said Justine. “But basketball gave me something positive to focus on, and I was good at it.”

Justine graduated from college and then went on to obtain her master’s degree; today she works full-time as a mental health therapist.

When she turned 28 and met Dustin, her future husband, everything just “clicked,” she said. They soon got married and began to talk about having children.

“Our first step was to talk to a reproductive health specialist regarding the risk of passing CGD on,” said Justine. “Dustin was completely supportive. He said, ‘Whatever you find out, I’m not going anywhere; we’re in this together.’”

Since Justine is a carrier of CGD, they learned that she had a 50% chance of having a son with CGD and a 50% chance of having a carrier daughter. After considering their options, they decided to have a traditional pregnancy.

“Our faith and spirituality are important to us,” she said. “We had the mindset that we’re meant to have the baby that’s given to us.”

On September 5, 2014, Thor was born, and, as fate would have it, he was diagnosed with CGD. After they absorbed the news, Justine and Dustin knew what to do. We immediately put him on sulfamethoxazole/trimethoprim, itraconazole, and interferon gamma, she said.

“So far, he has been the healthiest and happiest baby,” said Justine. “He doesn’t cry when we give him his ACTIMMUNE shots, and he doesn’t seem to have any side effects.”

Justine says that she is hopeful about the future. “We know that there will be difficult times,” said Justine. “But I am a positive person, and my husband is too. We just don’t dwell on the negative. We’re a team.”

Thank you Justine, Dustin, and Thor for sharing your story!