Perspectives of The Pompe World

Sometimes, a diagnosis is stumbled upon secondary to other issues. Without newborn screening, this disease is hiding away ever so subtly—undetected. For children like Windsor, it’s an acute illness that exposes the bigger picture and leads to the life saving diagnosis of a progressive rare disease like a Pompe.

Windsor, lovingly known as Winnie, was born in North Carolina in 2021. Unfortunately, this state did not begin to screen newborns for Pompe until 2023. Winnie seemed like a normal newborn aside from some low tone and late milestones. These were not alarming at the young age of 4 months and physical therapy was ordered to help her along. Winnie and her family worked extra hard with PT to get her caught up. At 7 months, she became acutely ill with something unrelated and required hospitalization. It was during this hospitalization that a new set of eyes found alarm in her delays. Some further testing was ordered and Winnie and her family were discharged home to await results that had not yet been found.

It was over a telehealth call that they were notified that Winnie had Pompe Disease. This rare disease was not something that the doctor was familiar with, and so her deliverance of the news was grim and without hope. Winnie’s mother recalls being made to feel like they would not have much time with her. Their world crashed down around them as the digested this news.

Luckily, later that week a geneticist breathed hope back into their family and assured them that Windsor could live a normal life with treatment and hope for even better treatment on the horizon. With more testing, Winnie was found to have cardiac issues typical of Pompe Disease and some abnormal labs. Eventually she would start regular infusions of enzyme replacement therapy. Though the initiation of ERT was daunting and overwhelming, Winnie showed improvement.

Her mother shares, “It has been the longest year of our lives. It’s been very sad at times and very trying. But, Windsor has the best personality, loves playing with her sister, loves to snuggle, and never seems to let her struggles get her down. Recently, she has started crawling on her hands and knees. She can stand for significant periods of time with assistance. She can walk with a push walker and a little stability help. She is graduating to hinged AFOs, which should help make walking easier. She no longer needs her stander. Her physical therapist tells us that she is so surprised with the speed at which she is improving and I don’t think that would be possible without the ERT.”

Winnie faces many obstacles and adversity in her every day life but has adapted and persevered in a way that inspires all who know her. The events leading to her diagnosis were both unexpected and life changing. Thankfully, children born in North Carolina will not have to rely on these same circumstances to get answers. Newborn screening and research gives so much hope for families like Windsor’s, who work hard to share her story and bring awareness to Pompe Disease. You can follow along her journey by joining

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