Something was quite troubling with Kyle and Nicole Muldoon’s baby.
Doctors speculated—could it be meningitis? Or maybe sepsis?
When KJ was just one week old, they discovered the cause: he had a rare genetic condition known as CPS1 deficiency. It occurs in about one in 1.3 million infants. If he managed to survive, he was likely to face severe developmental challenges and would eventually need a liver transplant. Unfortunately, half of babies diagnosed with this condition don’t make it past their first week.
The medical team at the Children’s Hospital of Philadelphia suggested comfort care for KJ, allowing his parents to forgo aggressive treatments given the dire outlook.
“We loved him, and we didn’t want him to suffer,” said Ms. Muldoon. Yet, she and her husband ultimately chose to give KJ a fighting chance.
Instead of following the expected path, KJ has made history in medicine. Now 9 ½ months old, he has become the first patient across any age group to receive a customized gene-editing treatment, as reported by his doctors. This special infusion was specifically designed to correct his unique genetic mutation.
The team that led this groundbreaking effort is set to present their findings at the American Society of Gene & Cell Therapy’s annual meeting and also plans to publish their work in the New England Journal of Medicine.
