A Baby’s Battle from Birth
Baby KJ gene therapy began after he was born with a potentially fatal genetic disorder on August 1, 2024. He received his diagnosis in a flash. He had inherited a severe urea cycle disease, namely CPS1 deficiency, according to the doctors. Because of the elevated ammonia levels in his blood, this illness made him susceptible to brain damage and possibly death.
Nine Months in the Hospital
KJ has not yet left Children’s Hospital of Philadelphia (CHOP). His parents, Kyle and Nicole Muldoon, and his three siblings—ages 14, 4, and 3—visit him often. The family, from Clifton Heights, Pennsylvania, are longtime Philadelphia Eagles fans, and they hold onto hope for KJ’s recovery.
The First Medical Experience of Baby KJ For months, doctors Kiran Musunuru and Rebecca Ahrens-Nicklas worked to create a gene therapy specifically for KJ’s illness. The goal of the treatment was to fix the flaw in his CPS1 gene and restore appropriate metabolic function.
This is the first of its kind and was created specifically for him. It is a significant advancement in rare genetic illness personalized medicine.
A Family’s Crash Course in Trauma
KJ’s parents describe their journey as a crash course in medical trauma and complex science. “The next two-and-a-half weeks was a crash course in urea cycle disorders and CPS1 deficiency and parenthood trauma,” said Kyle Muldoon.
Despite the heartbreak, they remain hopeful and strong.
A Future Filled with Hope
While KJ still faces many challenges, his care team is optimistic. He has a genuine chance at a healthy future thanks to the gene therapy. His loving family and caretakers are still fighting for his life.
The Power of Personalized Medicine
The possibility of tailored gene therapy is demonstrated by the story of Baby KJ. As research progresses, more children like KJ may have access to therapies designed just for them.
Source: USA Today
