In this NORD Guest Blog, two NORD Member patient organizations, TSC Alliance & Dup15q Alliance, discuss the importance of infantile spasms awareness, the symptoms to look out for, and how their organizations and 40 others successfully partnered to form the Infantile Spasms Action Network (ISAN).
Infantile Spasms Awareness Week (ISAW), held annually from December 1–7, is a call to action to protect infant brain health. What began as a coordinated awareness push rooted in the simple yet powerful “STOP” mnemonic has evolved into a global movement, reaching tens of millions of caregivers, clinicians, researchers, and advocates. Today, ISAW is driven by the collective power of the Infantile Spasms Action Network (ISAN), a coalition of 42 patient organizations — including the TSC Alliance and Dup15q Alliance — aligned around one goal: ensuring every child with infantile spasms receives fast, accurate diagnosis and immediate treatment.
How to STOP Infantile Spasms
Infantile spasms (IS) are rare seizures that affect roughly 1 in 2,000 children and can cause lifelong developmental consequences if not recognized and treated quickly. These spasms often appear as subtle, easily missed movements, such as head drops, body crunches, a sudden stiffening, or wide-eyed blinks. Because IS can be mistaken for reflux, colic, or a startle reflex, delays in diagnosis are tragically common. Each day of delayed diagnosis increases the risk of permanent damage to a child’s developing brain.
During ISAW, the Infantile Spasms Action Network (ISAN) does a concentrated awareness effort centered around the STOP Infantile Spasms mnemonic:
- S – See the Signs
Subtle head drops, sudden crunching movements, jerks, or wide-eyed blinks. - T – Take a Video
Because spasms often occur in clusters, a brief recording can help clinicians identify them quickly. - O – Obtain a Diagnosis
An EEG is essential to confirm the abnormal brain wave pattern characteristic of IS. - P – Prioritize Treatment
Early intervention — ideally within 7 days — is critical to prevent long-term developmental harm.
This simple, memorable tool has helped ISAN reach more than 195 million people since its launch, transforming IS recognition across caregiver, clinician, and digital communities worldwide.
Infantile Spasms Within the TSC + Dup15q Community
Today, ISAW continues to serve as a platform for education, advocacy, research awareness, and community empowerment. Each participating organization amplifies the message through its own channels and within its disease-specific communities — making the campaign stronger than any single organization could achieve alone.
Infantile spasms represent one of the most significant neurological risks for babies diagnosed with tuberous sclerosis complex. Approximately 30% of infants with TSC develop infantile spasms, often beginning between birth and two years old.
Because many children with TSC are diagnosed at or before birth (due to cardiac rhabdomyomas or other early indicators), parents and providers often know from day one that a baby is at elevated risk for IS. Moreover, vigabatrin, an antiseizure medication, is an effective first-line treatment for infants with TSC and infantile spasms. This presents a powerful opportunity: proactive monitoring, parent education, and early EEG surveillance can dramatically accelerate diagnosis and treatment.
The TSC Alliance is deeply committed to advancing early recognition and improving outcomes, including through support of the landmark PREVeNT Trial (Preventing Epilepsy Using Vigabatrin in Infants with TSC). While babies in the study who were treated preventatively with vigabatrin did not have improved cognitive outcomes or delayed onset or lowered the incidence of focal seizures and drug-resistant epilepsy, preventative vigabatrin was associated with later time to onset and lower incidence of infantile spasms.
This work reflects the TSC Alliance’s long-standing mission to empower families with early detection tools, drive life-changing research, and ensure that every infant receives timely care.
Infantile spasms are also a serious concern for children with Dup15q syndrome, particularly those with the isodicentric (idic15) variant. Seizures occur in greater than 60% of children with Dup15q syndrome, and infantile spasms can be one of the earliest and most severe forms.
Dup15q families frequently face delayed diagnosis due to overlapping symptoms (low tone, reflux, developmental delays), misinterpretation of subtle movements, and limited awareness among general pediatric providers.
Through ISAW, the Dup15q Alliance provides families with urgently needed clarity, video examples, clinical guidance, and direct connections to epileptologists familiar with Dup15q-specific seizure presentations.
The organization also uses the week to amplify new research, support families navigating new diagnoses, and equip clinicians with the latest best practices for early detection and intervention.
How We Are Getting Involved This Infantile Spasms Awareness Week
Both our organizations will contribute to the national ISAW 2025 effort through digital campaigns, educational initiatives, new resources, and community engagement. Planned activities include:
- Ongoing educational posts featuring IS warning signs, caregiver stories, and risk information
- Clinical content for providers, including EEG red flags, first-line treatment guidance, and PREVeNT Trial updates
- Distribution of the ISAW Partner Toolkit to clinics, advocacy organizations, influencers, and industry partners
- Spanish-language educational outreach for global families
- Mini “micro-TED talks” featuring clinicians and caregivers discussing early detection and the lived experience of IS
- Provider-targeted posts urging rapid referral, EEG testing, and prescribing recognized first-line treatments
- New family-friendly graphics and STOP mnemonic materials tailored for neurogenetic communities
- Clinical guidance resources for pediatricians and neurologists encountering suspected IS in infants
- Social media amplification across all platforms using the #ISAW2025 hashtag
The Power of Collective Advocacy
ISAW represents what is possible when rare disease communities unite around a shared mission. No single organization can solve the challenge of delayed infantile spasms diagnosis. But together, through coordinated messaging, shared tools, research collaboration, and synchronized national outreach, we can change outcomes for thousands of babies each year.
This December, as we join together, we reaffirm a simple truth: Awareness leads to recognition, recognition leads to diagnosis, and diagnosis leads to life-changing treatment.
Together, we can STOP Infantile Spasms.
NORD invites you to participate in Infantile Spasms Awareness Week using the official toolkit, and by sharing this Guest Blog with your community.
Learn more about the TSC Alliance at tscalliance.org and learn more about the Dup15q Alliance at dup15q.org.
If you or someone you love is living with tuberous sclerosis complex (TSC) and would benefit from financial assistance to cover medical copays or travel and lodging assistance to reach a Center of Excellence or participate in a clinical trial, NORD RareCare can help. Explore our TSC Patient Assistance Programs here.
