When Melissa Zimmerman heard a family member exclaim that her newborn baby girl smelled ‘so sweet’, she immediately knew something was amiss. Her newborn daughter, Kourtney, became fussier with each passing day and was refusing to eat. “After seeing how she was acting and hearing someone say that she smelled sweet, I had a gut feeling that she had Maple Syrup Urine Disease (MSUD),” explains Melissa. “We called the Clinic immediately and just two hours later, we were headed to Lancaster General Hospital.”

Even though it was a weekend, the Zimmerman family was greeted at Penn Medicine Lancaster General Hospital by Dr. Vincent Carson (Pediatric Neurologist) and Donna Robinson (Nurse Practitioner) from the Clinic.

“The Clinic team met us in the parking lot of the hospital to make sure we didn’t go through the emergency room with Kourtney. There they took a blood sample for urgent genetic testing to confirm she had MSUD. Donna even sampled Kourtney’s earwax to see if it exhibited the classic sweet smell of a baby affected with MSUD, and it did.” MSUD is a serious inherited metabolic disorder in which the body cannot process certain amino acids. If untreated, brain swelling can occur which can cause irreversible brain damage or death.

With her serious condition and the severity of her uncontrolled MSUD, the Clinic’s doctors admitted Kourtney to Penn Medicine Lancaster General Health’s Women and Babies Hospital (WBH). For the next 17 days, Kourtney was cared for around the clock at WBH’s NICU (neonatal intensive care unit). “The NICU team at WBH was so great and helpful. They worked hand-in-hand with the Clinic’s providers to educate us on her rare condition, and reassure us that everything would be okay,” explains Melissa.

“Women and Babies Hospital has Lancaster County’s first and most advanced NICU in our region. When we have to admit newborns facing serious and rare conditions, their team works collaboratively with us to ensure the child receives the specialized care they need. Other times, they will call the Clinic to help with a baby in need of specialized genetic testing. This partnership has elevated the care of many newborns. We are lucky to have them in our backyard here in Lancaster County,” says Dr. Laura Poskitt, Medical Director at the Clinic.

“It was quite a journey during those early days with Kourtney. We had to watch her regain skills, like drinking from a bottle, that she lost while she was sick. We are grateful for the level of care WBH’s NICU provided our family and how they worked with us. They are above and beyond,” says the Zimmerman family. “With the care she received, I don’t think she has any lasting damage and she continues to surprise us every day.”

Today, Kourtney is just like any other toddler. She’s strong and tries to do everything that her siblings can do! She currently visits the Clinic every two months for checkups and will soon be put on the list to receive a liver transplant for her MSUD.