The story of Kaci
On October 10, 2010 in Phoenix, AZ we had a baby boy we named Joshua. He was healthy and full term but he swallowed miconeum right before he was born so they took him to a small nursery to monitor him. While there he had some apnea so they then moved him to their highest level NICU. We heard different things in the NICU but after 3 days he was released as having “wet lung”. The day he left he had a minimal rash in his body but the doctors didn’t mention anything and we were just eager to get him home. The next day we noticed the rash was much worse so we took him to a pediatrician who tested it for a virus but the test came back negative a few days later, and they said not to worry about it. However, when Joshua was 9 days old he woke up with a fever early morning so we decided to take him back to St. Joseph’s in Phoenix, but this time to he ER. They said in he ER he had some type if a pneumonia, but not sure which kind. They said it was probably bacterial, and he would need to stay there for atleast 72 hours. However, after 2 days in pediatric ward we knew he had something serious. We asked that he be moved to the PICU, and it was a good thing because a few hours later he had to be intubated. During the next 3 week, little Joshua only got worse and worse. They mentioned something might be wrong with his immune system but, never called in a specialist. They had to eventually do a biopsy of his lungs and finally realized he had Candida Yeast in his lungs, which meant he had a fungal pneumonia, not a bacterial or viral like get had thought. They started giving him antifungals but he still wasn’t getting better, so they finally called in an immunologist who ran a few tests. One of the test was for a super rare disease called, CGD. They took the test on a Friday. The positive results came back Monday, and he died the next day, on Tueaday. He was diagnosed too late. He died at exactly 4 weeks old on November 9, 2010. I then took a bold test and found out I’m a carrier. A couple years later we did IVF with PGD, but unfortunately didn’t have any luck. Please contact me for questions or if you have a similar story I would love to hear about it!