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Beyond Maple Syrup Urine Disease (MSUD): Lincoln’s Story
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Welcoming a newborn into the world is a journey filled with joy, anticipation, and a fair share of uncertainties.
For new parents Kirsten and Elijah, the arrival of their first child, Lincoln, in March 2023 was a moment of pure bliss. However, just a week after bringing him home, their world shifted when Kirsten received a call that no parent imagines—a flagged abnormality had appeared in Lincoln's newborn screening test. This unexpected news marked the beginning of a new chapter in their parenting journey, filled with challenges, resilience, and hope as they navigated the complexities of their baby's health.
The Connecticut Newborn Screening Network
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 include a focus on how to care for Lincoln's special health care needs.
Newborn screening is a critical public health service conducted about 30 hours after birth. It has three different parts: blood spot screening for rare diseases, pulse oximetry screening for heart defects, and hearing screening. While not diagnostic, newborn screening 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.
Kirsten,
Lincoln's Mom
What is Maple Syrup Urine Disease (MSUD)?
Maple syrup urine disease (MSUD) is a rare inherited condition that affects how the body processes protein. People with MSUD can have severe symptoms, including metabolic crises, seizures, and developmental delays, if they are not treated. Newborns are screened for MSUD through newborn screening, which can help to find these babies before symptoms start. Treatment involves a lifelong, low-protein diet, nutrient supplementation tailored by a metabolic dietitian, and regular blood test monitoring.
Connecticut Children's offers lifesaving care
Kirsten and her family’s journey after diagnosis began by meeting with genetic specialists and a metabolic dietitian at Connecticut Children's, where they learned the importance of managing Lincoln’s strict diet. Since then, Kirsten has taken on the responsibility of managing Lincoln’s 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, and the metabolic dietitians, 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 the metabolic dietitians. These specialists provided the essential formula Lincoln needs, as Kirsten is not able to breastfeed exclusively due to the amino acids (break-down products of protein) in her breast milk that Lincoln’s body cannot process. 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 dietitians regularly stay in touch 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 Department of Public Health 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.
