Grand Traverse County family seeks help for infant's rare disease travel

A can drive that started Friday is raising money for dependable transportation as a Grand Traverse County family makes repeated trips to Ann Arbor for 4-month-old Marlowe’s care. Marlowe was diagnosed with Pompe disease just four days after birth, and her treatment now includes eight-hour infusion sessions every other week far from home.

Kim Hall, Marlowe’s grandmother, is helping lead the effort because the family’s need is practical as much as emotional. The trips mean fuel, vehicle reliability, missed work and coordination for siblings, all of it layered onto a medical schedule that does not pause. Hall said Marlowe means everything to the family, and the fundraiser is aimed at making sure the infant can keep getting to treatment without the burden of travel becoming unmanageable.

Pompe disease is a rare inherited disorder caused by a deficiency of the GAA enzyme, which leads to glycogen buildup in muscle and other tissues. In its infantile-onset form, the disease can become life-threatening in the first months of life, and untreated infants can face a life expectancy of less than 2 years. That is why early diagnosis and treatment matter so much, especially for families who suddenly find themselves managing a lifelong condition before a baby is even home from the hospital.

Michigan’s newborn screening system is part of that early detection net. The state screens all newborns for more than 50 disorders and hearing, and health officials say blood spot screening identifies about 300 Michigan babies each year with conditions on the panel. Michigan began screening all newborns for Pompe disease and MPS I after legislative approval and an October 2017 provider notice, and babies with positive Pompe screens are promptly referred to Children’s Hospital of Michigan or the University of Michigan for confirmatory testing and clinical evaluation.

That referral path helps explain why Marlowe’s care is centered in Ann Arbor. The University of Michigan’s pediatric genetics and metabolism program says it provides comprehensive rare disease care and family support, and Michigan Medicine is recognized as a NORD Rare Disease Center of Excellence. For Grand Traverse County families facing a diagnosis like Marlowe’s, that expertise can be lifesaving, but it also makes the distance part of the treatment plan.

The family’s fundraiser is meant to keep those trips possible and stable over time. For Marlowe, dependable transportation is not a convenience, it is part of getting the care that keeps her treatment moving.