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Dear Friend,
In this newsletter, we highlight two powerful examples of momentum in research and advocacy.
First, we explore the groundbreaking personalized treatment advances led by the n-Lorem Foundation. Although this therapy, which is still in development, is tailored to individuals who have a specific intronic mutation in the GBE1 gene, the implications are big. An “n-of-1” model, developing individualized therapies based on a patient’s unique genetic profile, opens the door to a new era in APBD care. It also catalyzes a chain reaction: encouraging patient identification and participation, building confidence, drawing interest in APBD and allied disease research, and making a way for future treatments.
Second, we explore the emotional complexities of a presymptomatic diagnosis. Though often difficult to discuss, this topic is becoming more urgent as our capacity to detect and eventually treat APBD evolves. Early diagnosis, while devastating, allows families to consider proactive decisions that may improve quality of life. It also helps fuel the research pipeline, providing insights which can shape and accelerate therapeutic developments. If we hope to treat APBD before symptoms emerge, before polyglucosan bodies do irreversible damage, then we must begin talking more openly about this stage of the journey.
According to Becca Reef, MS, LCGC, our Science and Research Coordinator, “While these two articles take center stage this month, they reflect just a small part of the larger tapestry we’re weaving together as an organization.”
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