Meet KJ Muldoon, an infant born with a rare and deadly genetic disorder who’s proving that miracles can happen. Thanks to a groundbreaking gene-editing treatment created by a team of researchers at the University of Pennsylvania, KJ is bouncing back in an amazing way. Only two days after KJ’s birth, his parents, Kyle and Nicole Muldoon, got devastating news. Even then, doctors cautioned them that KJ would likely be doomed to a life of intense developmental impairments and even death.
KJ was born five weeks premature and had a very tumultuous life from the beginning. He has a urea-cycle disorder—an inherited metabolic condition. This rare condition causes toxic ammonia to accumulate in his body. From birth on, KJ was making concerning presentations. His little arms became rigid when he was lifted, and he would shake violently as they lowered him back down. Doctors told his parents that they didn’t think he would survive long enough to be eligible for a liver transplant. This transplant would almost definitely cure his condition.
A Groundbreaking Approach
It was only recently that the Muldoons discovered that a groundbreaking treatment using CRISPR gene-editing technology might be an option. This new approach seeks to repair KJ’s particular genetic mutation by editing the genes in KJ’s liver cells. The novel treatment is delivered in billions of tiny lipid particles. These particles are uniquely engineered to shuttle gene-editing instructions right into KJ’s liver cells.
Dr. Kiran Musunuru, a cardiologist at Penn, was the key architect of this new treatment paradigm. Collaborating with Dr. Rebecca Ahrens-Nicklas, a metabolic physician at the Children’s Hospital of Philadelphia, they tailored the gene-editing method specifically for KJ’s condition.
“It was two of the longest hours of my life,” – Dr. Ahrens-Nicklas
KJ began receiving the monthly infusions three months ago. The treatment is still in beta testing, but has already shown groundbreaking success. It has given his parents, who were once prepared for the worst, incredible new hope.
A Journey of Hope and Determination
Kyle and Nicole Muldoon never gave up on finding out what their son’s potential could be. They made it their mission to learn about his condition and build relationships with his medical staff.
“Educate yourself on what the child’s going through, meet the doctors, learn their names, develop relationships,” – Kyle
Their commitment and determination truly made a difference, as they equipped themselves to advocate and ensure KJ received the extensive, multi-faceted medical care he required. They prayed, sought advice from others, and gathered information before deciding to pursue gene editing as a viable treatment option.
“We prayed, we talked to people, we gathered info, we eventually decided this was the way we were going to go,” – Kyle
The couple’s faith in the treatment has been reinforced by KJ’s progress. Nine months after starting treatment, he’s now smiling, sitting up independently, and eating foods like avocado.
“All the milestones that he’s reaching or developmental moments that he’s reaching show us that things are working,” – Nicole
KJ’s journey has been nothing short of inspiring, as the family acknowledges the impact of this innovative treatment on their son’s life.
A Paradigm Shift in Rare Disease Treatment
The advances made in KJ’s case may signal a shift in how rare genetic disorders are treated in the future. Dr. Peter Marks, a leading expert in gene therapy, emphasized the broader implications of KJ’s treatment.
“The exciting piece here is this may turn out to be the new paradigm for very rare diseases,” – Dr. Peter Marks
Though each case is different, he argued that the components of effective treatment are the same, no matter the infraction.
“Ninety-nine percent is going to be the same whether you’re treating this child or another,” – Dr. Peter Marks
Like all patients and caregivers, muldoons are deeply grateful for the medical breakthroughs. These breakthroughs have provided their son a fighting chance at life and development. They see KJ as an example of the human spirit’s ability to overcome challenges and believe in a better future.
“It just kind of all fell into place to give us this little fighter of a boy that we have,” – Kyle
As KJ continues to thrive under medical care and groundbreaking treatments, his story serves as a beacon of hope for families facing similar challenges. The combination of advanced medical technology and the unwavering determination of his parents encapsulates a journey filled with struggle and triumph.
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