Merrimack teenager has rare syndrome

MERRIMACK – For Debbie and Mark Leo, the hardest part may have been not knowing. It would be nearly nine years before the Merrimack couple got a diagnosis for their daughter Samantha, called Sammie, who had a myriad of special needs and developmental issues but no definitive syndrome or disease to better understand what they might expect for their little girl. Eventually, Sammie, who is now 14, would be diagnosed with Mowat-Wilson Syndrome, a rare multiple congenital anomaly syndrome that may include distinctive facial features, moderate to severe mental retardation, microcephaly, delayed growth and development, seizures, congenital heart disease, eye anomalies and genitourinary anomalies. Hirschsprung’s disease is also present in some cases as well. “Honestly, it was great news and a relief to finally have a diagnosis,” Sammie’s father, Mark Leo, said. “After nine years of visiting providers, pediatric specialists, genetic counselors, countless exams, testing, blood draws, and waiting, we finally had our answers.” Given the rarity of MWS, the Leos may have had answers, but they had little information beyond that. “The syndrome had just recently been discovered in 1998,” Sammie’s mother, Debbie Leo, said.