Perspectives of The Pompe World

The Deidesheimer family brought home baby number 2 in 2019. Evelyn “Evie” was only 7 days old when her mother received the heart-wrenching call. 5 missed calls and frantic voicemails from the pediatrician’s office was only the beginning of learning their bad news: Evie was diagnosed with Pompe Disease.

There was panic in their pediatrician’s voice as the news was delivered and the diagnostic process began with urgency. The next several days consisted of tests, blood draws, procedures and relentless agony for their family as a whole. Each day brought new results and guided the plan of care but ultimately they were told “we wish we knew what to tell you to expect but we just don’t know.” They had other patients with Pompe Disease but those patients were diagnosed later and they believed Evie’s outcomes would not be similar.

Evie’s parents, Eric and Ashley spent these days overwhelmed with worry and isolation while trying to keep afloat as a new family of four. Evie was the first child to test positive on newborn screen in the state of Ohio and being the first meant that they were on an island with no map. Several weeks of feeling in the dark and alone.

Evie is now a spunky, bright, 3 year old who inspires everyone she meets. While she still has many complexities and medical considerations, like her biweekly infusion and many procedures for monitoring, she is thriving. Her family is grateful for how well she is doing but they will never forget how they felt in the beginning.

Evie’s mom has made it her personal mission to ensure that other parents do not have to feel so isolated during those early weeks. She has founded “The Eve of Better Days” which is a donation-funded project where she sends care packages to newly diagnosed families. These packages are carefully intentional and include things that are helpful to families who are in the trenches of those many appointments and are beginning Enzyme Replacement Therapy.

Ashley and Eric also share their story publicly on social media platforms in hopes to be easily found by people who are going through what they did. Ashley states, “It’s so lonely until you find your tribe and being the first in Ohio, although lonely, gave me the drive to make sure no other mamas feel alone in the beginning.” She is a point of contact for newly diagnosed families and their story gives hope to those families who also feel like they are on a dark island. Her efforts to change the diagnostic process has made a positive impact on families all over the nation.

Evie’s story is one of strength and triumph and while there are still hard parts, there is much more hope.

https://www.facebook.com/The-Eve-of-Better-Days-Evies-journey-with-Pompe-Disease-104658581752731/