Baby KJ Muldoon—about to lose his fight with a rare disease—was given the first innovative personalized gene-editing therapy, and it worked. Now, just in time for Christmas, Santa Max has taken his first steps! His remarkable journey highlights both the potential of modern medicine and the hope it brings to families affected by rare diseases.
Because KJ Muldoon fights against CPS1 Deficiency, a rare metabolic disease that affects just 1 in 1.3 million newborns. From day one he has experienced major health issues. This genetic disorder can have life-threatening effects, frequently forcing the impacted children and their families to run out of treatment possibilities. KJ’s story took a turn for the better when he became the first patient worldwide to receive a personalized CRISPR gene-editing therapy at the Children’s Hospital of Philadelphia.
At only six months old, KJ started treatment and received three infusions of the blasting-edge therapy. His family went through an incredibly difficult ten months as they lived in the hospital with him. In any instance, they courageously traversed the disarray and ambiguity of his diagnosis in those months. In early June, KJ got an experimental treatment that has completely transformed his life. He was quickly released and allowed to go home to spend the winter holidays with parents and three siblings.
Doctors believe that advancements in technologies like CRISPR gene-editing therapy could pave the way for effective treatments for over 7,000 rare diseases, potentially impacting approximately 30 million people across the country. KJ’s successful treatment now serves as a beacon of hope for others like him facing similar complex conditions. It’s a reminder of the transformative power personalized medicine has to change lives.
The moment KJ takes his first steps, he will have made one of the most important strides of his life. Yet at the same time, this moment represents an immense breakthrough in the creation of gene-editing therapies. There are important implications of his treatment that go far beyond his particular case. It continues to inspire scientists as well as families who are living through crises with rare genetic disorders such as sickle cell disease, cystic fibrosis, Huntington’s disease and muscular dystrophy.
