Terapias

In collaboration with CDKL5 In Color

Curious about using real food through a feeding tube? In this beginner-friendly webinar, pediatric dietitian Hilarie Geurink, RD, covers the basics of blenderized tube feeding, including potential benefits, getting started safely, equipment, nutrition, and practical tips for families.

You’ll also hear from caregivers Jamie Chong, Marissa Bishop, and Melanie Kandzierski, who share their real-life experiences, lessons learned, and what they wish they had known when getting started. Whether you’re considering an occasional blended meal or a bigger transition, this webinar offers practical information to help you explore what may work for your family.

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Blendbuddy Free Trial

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DEEP submitted formal comments to the Office of Management and Budget (OMB) in response to its proposed revisions to federal financial assistance rules (Docket OMB‑2026‑0034). These changes, if implemented, would significantly weaken independent scientific peer review, restrict essential disparities and community‑engaged research, limit international collaboration, and create new barriers for the high‑risk/high‑reward science that drives progress in rare epilepsies and the more than 10,000 rare diseases.

As a caregiver‑led collaborative representing more than 60 rare epilepsy and neurodevelopmental disorder organizations, DEEP submitted comments to ensure the concerns of families, researchers, clinicians, and industry partners are clearly heard. Our community depends on federal research programs that protect scientific integrity, encourage innovation, and support collaboration across institutions and borders. The proposed OMB rule threatens these foundations.

In our submission, we urged OMB to:

• Preserve independent scientific peer review — the gold standard of federal research
• Protect disparities research, community‑engaged science, and DEI activities essential to understanding rare disease impact
• Safeguard international collaboration critical for ultra‑rare disorders
• Maintain transparency and predictability in federal grantmaking
• Ensure agencies retain flexibility to support high‑risk/high‑reward science

DEE and rare epilepsy families cannot afford setbacks in scientific progress. DEEP will continue advocating to ensure federal policies strengthen — not undermine — the research pathways that lead to the first treatments for catastrophic childhood epilepsies.

Read the full comment.

DEEP comments to the FDA supports efforts to establish a new Plausible Mechanism Framework and offers additional recommendations to ensure the guidance is effective and equitable for the DEE/IDD community. DEEP’s recommendations focused on making individualized therapy development more reflective of the realities of families living with DEEs, including:

• Recognizing caregiver expertise and community-generated data as valuable sources of evidence that can help fill gaps when traditional clinical data are limited.
• Encouraging flexible, family-centered research approaches that reduce participation barriers and make studies more feasible for small and medically complex populations.
• Ensuring therapies are evaluated using meaningful outcomes and supported by realistic plans for long-term follow-up, access, and affordability.

This new framework has the potential to accelerate the future of individualized therapies for genetic conditions and open doors for new treatments for DEE patients. For families in our community, meaningful progress depends on research systems that recognize and value caregiver expertise, accommodate medical complexity/fragility, and measure small but meaningful outcomes (“inchstones”) that matter. We are grateful for the FDA’s work on this issue and were pleased to provide comments and recommendations to ensure patient/caregivers generally and the specific DEE voice is meaningfully integrated into the new framework. We urge the FDA to adopt DEEP’s recommendations and suggested edits to ensure the guidance is practical, equitable, and centered on outcomes that matter to people living with DEEs. We are excited for the promising future of individualized gene therapies as the FDA continues to develop and implement this draft guidance into an established regulatory framework.

To read our full comment and stay involved in work like this, click here.  

• Caragh Maloney, DEEP Intern and caregiver to Jordan (who has an undiagnosed DEE) 

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Navigating emerging treatment options can feel overwhelming, especially when families are asked to make decisions about experimental or individualized therapies. In this educational webinar, DEEP and KCNT1 Epilepsy explore the fundamentals of antisense oligonucleotide (ASO) therapies and the critical role of informed consent in rare disease care.

The session features an overview from Dr. Olivia Kim-McManus, who explains what ASOs are, how they work, where they fit within today’s treatment landscape, and key considerations for families as they evaluate potential treatment opportunities. The webinar also includes a parent panel sharing firsthand experiences with learning about ASOs, weighing risks and benefits, asking difficult questions, and navigating complex medical decisions.

Whether you’re new to ASOs or looking to better understand the informed consent process, this webinar offers practical education and real-world perspectives to help caregivers feel more informed and empowered.

Resources Included:

• Webinar recording
• Presentation slides
• Additional resources related to ASOs and informed consent
  • Clinical Trails – Child Neurology Foundation
  • Pathway to Treatment – n-lorem Foundation
  • The Emerging Era of N-of-1 Drugs for Ultra-Rare Genetic Diseases
  • Preparing for Patient-Customized N-of-1 Antisense Oligonucleotide Therapy to Treat Rare Diseases

What happens when seizures escalate? How do you know the difference between seizure clusters and status epilepticus, and why does it matter?

In this educational webinar recording, we explore the key differences between acute repetitive seizures (seizure clusters) and status epilepticus, two conditions that can look similar but may require different approaches to treatment and emergency care. Our clinicians discuss seizure patterns, common triggers, rescue medications, and current thinking around management strategies.

We also dive into a challenge many caregivers know too well: repeated hospital visits, heavy sedation, and the difficult cycle of seizures, medications, sleep, and recurrence. This conversation aims to help families better recognize what may be happening, ask informed questions, and advocate confidently during critical moments.

✨ In partnership with FamilieSCN2A Foundation, this webinar features expert clinicians:

• Dr. Laura McGarry, MD, PhD – Children’s Hospital of Philadelphia ENGIN Clinic

• Dr. Inna Hughes, MD, PhD – University of Rochester Medical Center

Alongside parent voices, Renee, Tara, and Katie sharing lived experience navigating complex epilepsy care.

We hope this conversation helps caregivers feel more informed, empowered, and supported in making decisions for their loved ones.

>>>View Slides Here