February 18, 2023
Melissa Goetz, a Watervliet mom and Co-President of the Familial Chylomicronemia Syndrome (FCS) Foundation, was searching for answers when her daughter, Giuliana, was diagnosed with FCS at just three weeks old. After years of hospitalizations and fruitless efforts to get treatments approved for her daughter’s rare genetic condition, Melissa reached out to me to express her disappointment and hurt, and to ask what could be done for her daughter. I quickly arranged to meet with Melissa to learn more about her family’s struggle and to find out how I could help.
From that first meeting, I was struck by her depth of knowledge, her courage, and her dogged pursuit of a treatment that would give her daughter a better life. Melissa taught me that FCS is a rare condition that causes a buildup of fats in the blood that can increase the risk of severe abdominal pain and potentially fatal attacks of pancreatitis. She also shared her stories of frustration with the Food and Drug Administration’s (FDA) review process for treatments for rare diseases like FCS, after she saw potential treatments rejected because their clinical trials were too small, or their regimens were deemed too “burdensome” for patients.
My engagement with Melissa inspired me to consider how the FDA is currently engaging with patients, especially those who suffer from rare and ultra-rare diseases. Working alongside Melissa and the wider rare disease community, I set out to deliver legislation to bring hope to families like the Goetzes. In December, that yearslong effort finally paid off when President Biden signed my bipartisan Helping Experts Accelerate Rare Treatments (HEART) Act into law.
The HEART Act addresses a critical need. There are over 7,000 known rare and ultra-rare diseases, with more discovered every year. An estimated 25-30 million Americans are living with one of these rare diseases, and more than half of those people are children. These conditions affect millions of families and impact every community across our country. But due to the small number of patients with each disease, studying these disorders and conducting high-quality clinical trials is difficult. As a result, 95% of rare diseases have no FDA-approved treatment.
The HEART Act will strengthen the FDA’s review process for rare disease treatments by ensuring that the perspectives of doctors, researchers, and critically, patients and their families are at the forefront of this process. To that end, my legislation:
- Requires an annual report to Congress to better understand how the FDA processes submissions for rare disease treatments and how it engages with external stakeholders like patients and their physicians;
- Requires the Government Accountability Office (GAO) to assess how the FDA is working with patients and experts in their review process and to provide recommendations to improve these interactions going forward;
- Directs a review of the European Union’s world-leading practices for approving rare disease drugs;
- And requires the FDA to hold a public meeting to solicit feedback from patients and medical experts on how it can better incorporate their expertise during treatment reviews.
These critical provisions will help accelerate the FDA’s slow, frustrating review process for rare disease treatments, bringing hope to millions of families nationwide.
The support of families and advocates in the rare disease community has been invaluable in making the HEART Act a reality. On Tuesday, Valentine’s Day, I stood with Melissa and Giuliana, Jay Honsinger of Clifton Park and his son J.P., who is diagnosed with Niemann-Pick Type C disease, and Jennifer Rittner of Rotterdam, who suffers from Stiff Person Syndrome, to celebrate this historic achievement at the University at Albany’s RNA Institute, which is already making progress researching treatments for rare conditions like these. I was moved to hear their personal stories of struggling to find treatment for their diseases, and I was heartened to hear from them about how this legislation will help families like theirs in the future.
When we incorporate the voices of patients and rare disease experts in the FDA review process, their perspectives lead to better treatment options and a better system for everyone. I’m proud of our success in making this bill law. But I believe we can still do more to amplify the voices of those most impacted. I know that with the support of dedicated advocates like Melissa, Jay, and Jennifer, we can get it done.
As always, thank you for reading.
DID YOU KNOW?
My office and I are working to make sure you remain informed with the latest updates and recommendations from federal agencies. With that in mind, here is some information that may be of interest to you:
- On Wednesday, February 22nd, I’m joining representatives from the U.S. Department of Veterans Affairs (VA) to host an in-person event for veterans to learn about the benefits of the recently enacted Honoring our Promise to Address Comprehensive Toxics Act, or PACT Act.
- The event will be held at the Samuel S. Stratton Albany VA Medical Center, located at 113 Holland Avenue, Building 67 in Albany, beginning at 11:00 AM.
- At the event, attendees will view a presentation from VA representatives about the resources made available by the PACT Act.
- Following the presentation, veterans will have the opportunity to visit tables set up around the room to ask questions, sign up for benefits, and learn how my office can assist with VA or other federal issues and agencies.
- The PACT Act, signed into law in August, will finally treat exposure to toxic substances as a cost of war by addressing the full range of issues impacting toxic-exposed veterans, including access to earned benefits and healthcare through the VA.
- If you have any additional comments or questions about this event, please do not hesitate to contact my Albany office at (518) 465-0700.