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Rare Disease Day – Representing in Seattle

March 3rd, 2025  | Advocacy  | News

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Is HIE rare or not? That is a common question!

The answer, as usual with HIE, is not a clear yes or no but rather a sometimes or maybe, or depends on the context and who you ask.

HIE itself is typically not considered rare, impacting roughly 2-3 per 1,000 live births in high-income countries (which is considered rare in the United States) and upwards of 10-20 per 1,000 in low and middle-income countries (which is NOT rare, accounting for 95% of HIE cases and over 1 million cases annually), and is the second leading cause of infant mortality worldwide.

However, many rare things can lead to HIE like uterine rupture, placental abruption, fetal-maternal hemmorhage, placental insufficiency or failure, cord compression, and other causes. HIE is also a leading cause of many rare epilepsies like Infantile Spasms (2nd leading cause), Lennox-Gastaut Syndrome (a top cause), and DEE-SWAS (a top cause). In addition, it’s the top cause of Cortical Visual Impairment, a rare brain-based vision impairment.

HIE is a structural diagnosis vs. genetic, but there are also genetic conditions that can predispose babies to HIE co-occurring, and some conditions that mimic HIE, often causing diagnostic confusion and potentially delaying treatment for genetic neonatal encephalopathy.

Now, onto Rare Disease Day 2025.

Rare Disease Day in Seattle

Hope for HIE’s Hospital Ambassador to Seattle Children’s Hospital, Tina Santos, represented the organization at the Pacific Northwest Research Institute’s Rare Disease Day conference.

Tina had the opportunity to host a booth, speak with attendees, elevate the unmet needs of the HIE community, and discuss how HIE fits into Rare Diesease.

While the main focus was on genetic conditions, having representation for a structural diagnosis is, indeed, rare and brings forward new opportunities for researchers to consider our community for research, and to see if what one community may be looking at, could be applicable to others like ours.

Tina continues to be an exceptional HIE ambassador, and we are so grateful to have her connecting families, elevating advocacy and awareness, and representing Hope for HIE!