This is a companion piece to our podcast episode, which we recommend listening to or viewing before reading! But if you do not have the time to tune in quite yet, please keep reading to get your advocacy journey started!
We recently featured three advocacy leaders—Shannon von Felden (EveryLife Foundation), Mark Vieth (CRD Associates), and Katie Collins (G2G Consulting)— on the Phelan-McDermid Syndrome Podcast: Sharing Research, Progress, and Hope to discuss how federal policy changes may impact families affected by Phelan-McDermid Syndrome and the broader rare disease community.
Let’s review the key highlights from the podcast, and then we will focus more in depth on next steps and numerous ways you can get involved in advocacy!
Federal Policy Issues Affecting Rare Diseases
This is not an exhaustive list of federal policies impacting rare diseases like Phelan-McDermid syndrome, but focuses on three issues that our interviewees felt may have their greatest impact or most immediate impact on the community. Please see our attached graphic that highlights additional federal policy issues we at the Phelan-McDermid Syndrome Foundation are keeping an eye on.
- Federal Research Funding Cuts: Already in 2025, the Department of Defense’s Congressionally Directed Medical Research Program saw a 57% cut, zeroing out funding for epilepsy, autism, and TSC research. Additional cuts have been made in 2025 to other funding agencies, including the National Institutes of Health (NIH) and the National Science Foundation (NSF). Although it remains unclear if these cuts have specifically impacted Phelan-McDermid syndrome research, each of these federal agencies have previously funded projects for our community.
- Risks to Medicaid: Budget mechanisms now allow Congress to cut Medicaid more easily, raising fears over loss of vital services for our individuals and families with Phelan-McDermid syndrome, including basic medical services as well as in-home care, adult day support, assistive technology, and transportation. More information on where cuts could/will be made to Medicaid are unknown. Learn more from the Arc.
- Federal Agency Staff Cuts: Numerous federal agencies, including NIH, Center for Disease Control (CDC), and the Food and Drug Administration (FDA), face staffing reductions that have the potential to affect rare disease surveillance, data programs, and drug development. So far, the Phelan-McDermid syndrome community has not been impacted by changes at the FDA as evidenced by a Type C meeting with Neuren and continuation of the Jaguar trial.
- Reauthorization of Pediatric Rare Disease Priority Review Voucher Program: The Pediatric Rare Disease Priority Review Voucher Program expired on December 20, 2024. Thus, advocates are pushing to ensure incentives for developing pediatric rare disease therapies is maintained in 2025. Learn more here.
*Important Update*
Since our podcast recording, the proposed budget for fiscal year 2026 was released, which included additional cuts to medical research funding, thus we reached out to our podcast interviewees for comment. Mark Vieth noted, ”…to drastically cut funding for NIH–combined with [the] proposed consolidation of institutes, firing of employees, and freezes to existing grants–severly threaten[s] the future of biomedical research in the United States”. However, Katie Collins reminded us “the budget reflects the administration’s priorities, but Congress is responsible for enacting the budget. So, advocacy to Congress on the importance of robust funding for NIH and HHS remains essential!”
Positive Momentum
In contrast, there has been progress within specific programs that have potential to positively impact our Phelan-McDermid syndrome community.
- National Plan for Epilepsy and Seizures Act: This recently re-introduced bipartisan legislation aims to develop a comprehensive national strategy for epilepsy, including prevention, diagnosis, treatment, and research—mirroring past successes in other neurological conditions like Alzheimer’s and Parkinson’s. PMSF signed on in support of the National Plan for Epilepsy. It is looking promising that this act will pass.
- Supportive Members of Congress: Our interviewees shared that the Rare Disease Congressional Caucus and specific lawmakers have been responsive to constituent stories of their lived-experiences with rare disease. So let’s turn to how you, too, can share your story!
Empowering Families to Advocate
Your Story Matters. You don’t need to be a policy expert—just share your personal experience with Phelan-McDermid syndrome and how policies like Medicaid or research funding affect your life.
- Advocacy Tips
- Use Photos & Personal Details: These leave lasting impressions and humanize complex policy issues.
- Concrete Asks: Always include a clear request in your advocacy conversations (written or oral), like “restore CDMRP funding” or “oppose Medicaid cuts.”
- Be Polite, but Persistent: Avoid confrontational or divisive language. Build long-term relationships with staffers.
- Don’t Pit Diseases Against Each Other: Advocating for Phelan-McDermid syndrome shouldn’t come at the expense of other disease areas.
- Upcoming Advocacy Opportunities:
- Rare Across America (virtual and local, August) – registration at rareacrossamerica.org
- Rare Disease Week (in D.C., February)
So, Now What?
This is a critical moment in federal policy.
Now more than ever, we are calling our Phelan-McDermid syndrome community to action! Your voice, especially when shared with clarity and compassion, can shape national priorities. Whether you’re new to advocacy or experienced, your engagement matters more than ever for ensuring continued support for medical research and essential healthcare services.
PMSF Policy Priorities
With help from the National Fragile X Foundation, we outlined the federal policies we are keeping track of and monitoring. Even though there is a lot going on, we recommend that our families pick one or two policies to monitor and take action for themselves.
Supporting You Taking Action
Get Action Alerts from any of our advocacy partners!
Shannon von Felden shared the following resources on meeting with your legislators:
Example Email and Phone Scripts
Introduction:
Hello, my name is [Your Full Name], and I live in [Your City, State, and ZIP Code]. I’m a constituent of [Senator/Representative’s Name], and I’m calling to express my deep concern about the proposed FY26 budget cuts to federal biomedical research agencies, especially the NIH and NSF.
Your Connection to the Issue:
I am [your relationship to Phelan-McDermid syndrome — e.g., a caregiver/sibling/grandparent of a child with Phelan-McDermid syndrome] and my loved one [Name or “my child,” etc.] lives with Phelan-McDermid syndrome.[Optional personal story — e.g., “They are 8 years old, nonverbal, and love music and swimming. Our family works hard every day to help them access the therapies and services they need. We rely on hope that research will bring better answers and opportunities for their future.”].
Message of Concern:
Phelan-McDermid syndrome is a rare and serious neurodevelopmental disorder that causes global developmental delay, intellectual disability, autism spectrum symptoms, and medical conditions like seizures and severe GI issues. While researchers have made significant progress in potential therapeutic pathways, there are currently no targeted treatments, and we depend on federally funded research to advance our understanding of this condition.
Cutting funding to the NIH and NSF would deeply affect ongoing research into rare diseases like Phelan-McDermid syndrome. These agencies provide critical support for scientists and institutions working to develop new tools, therapies, and insights that could dramatically improve quality of life for individuals and families like mine. These cuts would not only delay scientific breakthroughs — they would impact real families, real children, and their futures.
Specific Request:
I urge [Senator/Representative’s Name] to strongly oppose any cuts to NIH, NSF, and other federal research programs in the FY26 budget. These institutions are essential to American innovation, health, and global leadership — and they are a lifeline for communities like ours.
We are not asking for miracles — we are asking for continued investment in the science that gives our families hope, and that moves us closer to meaningful treatments that could change lives.
Closing:
Thank you for your time and for your commitment to the well-being of all Americans — including those living with rare diseases like Phelan-McDermid syndrome.
Introduction:
Hello, my name is [Your Full Name], and I live in [City, State, ZIP Code]. I’m a constituent of [Senator/Representative’s Name], and I’m calling to express serious concern about proposals to cut Medicaid funding.
Personal Connection:
I am [your relationship to the person with Phelan-McDermid syndrome — e.g., the parent of a child, grandparent, sibling, caregiver], and my loved one [Name or “my son/daughter,” etc.] has Phelan-McDermid syndrome, a rare genetic condition that causes developmental delays, intellectual disability, and often complex medical and behavioral needs.
[Optional story: e.g., “They require daily care, therapies, and support services that we simply could not afford without the help of Medicaid. Medicaid helps cover their home health services, therapies, and the specialists they need to stay healthy and safe.”]
Why Medicaid Matters:
Medicaid is a lifeline for families like mine. It funds essential services — including in-home care, medical equipment, therapies, and support staff — that allow individuals with significant disabilities to live safely in their homes and communities.
Cuts to Medicaid would put that stability at risk. Without this coverage, families would be forced into impossible situations, and many people with disabilities would lose access to care, independence, and dignity.
Your Request:
Please urge [Senator/Representative’s Name] to oppose any cuts, caps, or restructuring of Medicaid that would reduce access to care for people with disabilities.
This program isn’t just a safety net — it’s a lifeline. We need a budget that supports the most vulnerable among us, not one that makes their lives harder.
Closing:
Thank you for listening and for considering the real impact Medicaid has on families like mine. We’re counting on your leadership to protect these essential services and the people who depend on them.