العلاجات

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 مؤسسة فاميلي SCN2A, 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

Are you tired of changing your loved one in the trunks of cars, on bathroom floors, or just skipping outings altogether? We are too. As a nanny and caregiver to a five year old with an undiagnosed DEE (severely impacted epilepsy condition), I have been praised in public for “getting crafty” in order to make a diaper change happen. The reality is, caregivers are tired of being creative to make the world accessible and we had the opportunity to say that to the people who shape accessibility policy. 

Without federal regulations, it is often easier to stay home. Disabled individuals are excluded from society in many ways, but inadequate changing facilities are among the most overlooked. It is a feeling many of us know well: planning doctor’s appointments, shopping trips, vacations, and everything in between around access to changing facilities. The world is not designed with our loved ones in mind, but through powerful advocacy and legislation, change is on the horizon. 

Last month, we shared our “Your Experience Matters” changing station survey via our انستغرام and our newsletter (sign up here!) and it went viral. With over 200,ooo views and over 1,000 shares, the prevalence of this issue for disability families became clear. The DEE-P team immediately got to work collecting testimonials from our community in order to submit a comment that aligns with the needs of profoundly impacted individuals and their families.  The goal was to inform a comment we were preparing to submit to the U.S. Access Board, focused specifically on potential federal regulations for universal changing stations in large and medium hub airports. Through the federal open comment process, individuals and organizations can provide input that directly shapes future accessibility standards. 

Survey responses and social media comments highlighted a concerning reality: 85% percent of survey respondents reported that changing their loved one in the trunk of their car was the safest and most sanitary option available. Responses across social media platforms emphasized the prevalence of undignified changing strategies, with 400+ comments from caregivers sharing their experiences with our community. This method lacks privacy, depends on weather, and becomes less feasible as individuals grow. The alternative option for many is the dirty bathroom floor, which is unsanitary and poses a major risk of injury. 

Caregivers described experiences in their own words:

• “It’s hard on my body physically supporting him in this way. It greatly limits the access to being out for longer periods of time… I do not have extra hands.”
• “Many times we skip travel or leaving the house entirely because it’s so difficult, which is not good for mental health.”
• “Most places are completely inaccessible for our son, especially as he’s become older.”
• “This is something that is long overdue and much needed for families of medically complex children.”

So what does a truly accessible changing station look like?  To read our full comment and stay involved in this work,click here. Based on caregiver input and ADA guidance, we recommended that all universal changing spaces include:

• A private, unisex room separate from public restrooms
•  An ADA-compliant sink and adaptable toilet for assisted toileting and caregiver use
• A powered, continuously adjustable changing table with side rails or a safety strap
• A table that meets ADA requirements for length and weight capacity
• Nonmetal materials that are easy to clean and durable enough for deep sanitation
• Features such as medical-grade hooks and non-slip flooring
• Clear cleaning protocols and readily available hygiene supplies
• Sufficient space to accommodate wheelchair users, caregivers, and family members, including safe transfer space

While this is a condensed version of our formal submission, the core message remains unchanged: privacy and safety must be built into public spaces. 

Dignity, safety, and access are not luxuries– they are basic needs. The open comment process gives our community a rare opportunity to push for standards that reflect that reality. Our comment is just one piece of a much larger effort, and continued engagement will be critical as these standards develop. When opportunities like this arise, sharing your experience (even briefly) helps ensure policies reflect the realities of your lives.

Caragh Maloney, DEE-P Intern and caregiver to Jordan (who has an undiagnosed DEE) 

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