Pediatric Conditions and Treatment Beyond Maple Syrup Urine Disease (MSUD): Lincoln’s Story

Connecticut Children's Newborn Screening Network played a vital role in detecting a potential case of Maple Syrup Urine Disease (MSUD) during Lincoln's initial screening. This early detection triggered urgent follow-up blood and urine tests, which confirmed the diagnosis. For Kirsten and Elijah, what started as a routine test quickly became a life-altering series of medical consultations, treatments, and a steep learning curve about managing a rare metabolic disorder. As they navigated this new reality, their lives shifted to focus on Lincoln's health and well-being.

Newborn screening, conducted about 30 hours after birth, is a critical public health service that involves a few drops of blood and a hearing test. While not diagnostic, it identifies babies at risk for certain conditions before symptoms appear, allowing for early treatment. In Connecticut, every newborn undergoes this vital screening.

It's so relieving that I can contact our doctors [at Connecticut Children's] whenever we need. . Through it all, Connecticut Children's-100% dedicated to kids-has been there every step of the way, including helping to create an emergency plan in case Lincoln's condition worsens.

Lincoln's Mom

Maple syrup urine disease (MSUD) is a rare inherited condition that prevents the body from processing certain amino acids, leading to a harmful build-up in the blood and urine. MSUD can cause severe symptoms, including metabolic crises, seizures, and developmental delays if untreated. Newborns are tested for MSUD through newborn screening, and early diagnosis is crucial for effective management. Treatment involves a lifelong, low-protein diet tailored by a specialist dietitian, along with regular monitoring and possible supplementation to maintain safe amino acid levels.

Connecticut Children's offers lifesaving care

Kirsten and her family's journey after diagnosis began by meeting with a genetic specialist at Connecticut Children's, where they learned the importance of managing Lincoln's strict diet. Since then, she has taken on the responsibility of managing his daily meals and has even considered homeschooling to ensure his health and diet remain closely monitored.

With the help of Joseph Tucker, MD, a pediatric geneticist at Connecticut Children's, Lincoln has been receiving ongoing care. Kirsten meets with Dr. Tucker every six months to monitor Lincoln's progress, and for added support, she also works closely with team members from Nutrition Services. These specialists provided the essential formula Lincoln needs, as Kirsten is not able to exclusively breastfeed due to amino acids in her breast milk that Lincoln cannot break down. She is fortunate to be able to breastfeed part-time, supplementing with formula to meet his nutritional needs. Not every mother with a child who has MSUD is able to do so, as the severity of each case varies. The Nutrition Services team continues to stay in touch regularly to help manage Lincoln's unique nutritional needs and dietary restrictions.

The journey hasn't been without its challenges. For months, Lincoln needed biweekly bloodwork to track his health, and Kirsten is comforted knowing she can reach out to their care team whenever necessary. "It's so relieving that I can contact our doctors whenever we need," she shared. Through it all, Connecticut Children's-100% dedicated to kids-has been there every step of the way, including helping to create an emergency plan in case Lincoln's condition worsens.

"The newborn screen saved my son's life"

Without the newborn screen, Lincoln would have been in grave danger before any symptoms appeared. His condition can progress quickly, and by the time symptoms would show, his levels would be dangerously high and nearly impossible to bring down. Thanks to early intervention and the team at Connecticut Children's and The Connecticut Newborn Screening Network, Lincoln is now thriving. He's a happy, energetic little boy who loves cars, books, dinosaurs, playing in the park, and splashing in the water.

In an effort to improve testing for others, Kirsten has been working with the Connecticut State Lab to enhance the turnaround time for amino acid results, ensuring faster diagnoses for future families.

For Kirsten and her family, the care they've received has been lifesaving, and their gratitude is boundless.