Sadie: Born with PKU, Thriving with Medical Research

Fifteen years ago, the importance of medical research was abstract for one family – until it became deeply personal. That changed thirteen years ago, when they welcomed her baby daughter, Sadie.

Soon after birth, thanks to the newborn screening program, Sadie was diagnosed with phenylketonuria (PKU), an inborn error of metabolism. PKU prevents the body from breaking down phenylalanine, a component of protein, causing it to accumulate in the bloodstream and potentially leading to severe cognitive impairments if left untreated.

Decades of dedicated medical research, however, changed the course of Sadie’s life. Because the condition was detected early, Sadie was able to follow a specialized, highly restricted diet containing only three to four grams of protein per day. Her nutritional needs are supplemented with a daily metabolic formula – an approach made possible by scientific advancements and constant attention from researchers, doctors, and caregivers.

Today, Sadie is thriving. She excels academically, participating as a straight-A student, an active member in the National Junior Honor Society, and is involved with several academic clubs. Her journey is a testament to the life-changing outcomes that result from sustained research efforts. The family expresses profound gratitude for the dedication of scientists, doctors, and those advancing the field, emphasizing that continued investment in research is vital to ensure every individual – like Sadie – has the opportunity to reach their full potential.