A place for the rare disease community to engage & advocate!
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New York State Rare Disease Collaborative
Assmb. Eichenstein (top) & Senator Hoylman-Sigal
New Bill Will Help Rare Children
New Bill Will Help Rare Children
Bill A.2384/S.965 Enables out-of-network coverage.
Bill A.2384/S.965 Enables out-of-network coverage.
A new bill from Assemblyman Eichenstein (48/D) and Senator Hoylman-Sigal (47/D), can help children with rare and other serious medical conditions get care by making it easier for their families to seek treatment from out-of-network specialists.
Under A.2384/S.965, health plans* would have to cover visits to out of network specialists for children with rare, life-threatening, or degenerative/disabling condition or those considered medically fragile, under certain conditions:
The child’s primary doctor writes a letter of need
The chosen specialist notifies the health plan on advance
The chosen specialist is certified as a specialist in that area
The chosen specialist accepts the health plan’s normal rate for specialist care
The health plan does not have to cover travel for out of area specialists
*Self-insured health plans are not covered because of the federal ERISA exemption.
Access to out-of-network specialists can be life altering for children with rare diseases. On average it takes 5-7 years for a child with a rare disease to receive a diagnosis. In that time the child’s disease can progress, leading to worsening symptoms, and the need for more, often expensive care. In the most serious cases the delay of treatment can lead to permanent disability or be fatal.
The bill represents a compromise in that health plans only have to pay their normal rates while families have a better chance to see a needed specialist. With over 10,000 identified rare diseases families already struggle to find help for their children. A.2384/S.965 helps to make the search for care a little easier while keeping costs to the health plans in check.
For a full report on the bill click here.
Rare NY Spotlight
Rare NY Spotlight
Dynamic Mother/Daughter Duo shine a light for people with Hermansky Pudlak Syndrome Ashley & Donna (on left) with HPS members, Ashley with mock cereal box.
Dynamic Mother/Daughter Duo shine a light for people with Hermansky Pudlak Syndrome Ashley & Donna (on left) with HPS members, Ashley with mock cereal box.
Meeting Ashley Appell, you can’t miss her unique brand of spunk. It’s a mix of wanting to hug the world with a determination to make it a better place. Then you meet mom Donna and quickly learn where Ashley gets it from, and how this duo became such empowered advocates for people with Hermansky Pudlak Syndrome.
HPS is a genetic metabolic disorder characterized by albinism, visual impairment, and platelet dysfunction that causes prolonged bleeding. “There are 11 subtypes of HPS” adds Donna, a nurse, as she runs through other problems people with HPS can have, including inflammatory bowel disease, pulmonary fibrosis, and kidney disease.
Ashley has struggled with many of these complications, barely surviving massive blood loss as an infant. It’s common for people with rare diseases to struggle with serious medical issues, compounded by a lack of treatment, before they can get a proper diagnosis and proper help. “My Mom had to fight to get me the care I needed,” Ashley says, “She’s really the reason I’m here today.”
A visit to the HPS Network website testifies to the wide-ranging challenges faced by people with HPS, along with the hard work of the HPS Network to help address these challenges. Having experienced so many of these struggles themselves, Donna and Ashley are intent on doing what they can to help others like them.
“Ashley was very sick and I felt very, very isolated. So I started the HPS network and then I didn't know how to get research done, so I cold called the NIH and got invited to speak to them.” Donna says. As a result, Ashley became the first, or index case, of HPS studied by NIH. It led to NIH opening a HPS study protocol and inviting other families.
They work out of their Long Island home on efforts that take them from NIH conferences, to the United Nations. “We have a hard stop at 9am to Zoom with the UN about a human rights campaign to protect people with albinism particularly in non-developed countries where they can suffer horrific abuse.” Donna says.
A priority for Donna and Ashley is better treatment for HPS. Besides collaborating with NIH, they’re working on med school classes, an international database on albinism, and a clinic for providers and patients in Puerto Rico where they have a high rate of HPS. (Recently they hosted the UN in Puerto Rico, which will be a UN report next month.) No opportunity for progress is overlooked. “We collect specimens for studies at our meetings. At our annual conference the rule is if you’re sharing research information it has to be unpublished, which means it’s new work, so we can keep moving the needle.” Donna explains as she ticks off what they do.
On the state level, Ashley served as part of a NY Dept. of Health work group which released a report in December detailing the needs of people with rare diseases and what NYS can do to help meet those needs. Now that the work group is over, Ashley is part of a campaign to create a permanent NYS rare disease advisory council.
“We have so much yet to do,” Ashley explains. Donna nods, and together this dynamic duo head off to their Zoom with the UN.
Gov. Hochul signs step bill
Gov. Hochul signs step bill
Bill limits use of step therapy
Bill limits use of step therapy
In late December Gov. Kathy Hochul signed step therapy reform bill S.1276a/A901a by Senator Neil Breslin (46/D) and Assemblyman John McDonald III (108/D) into law, following a long effort by patient and provider groups from across New York State and national advocacy organization Aimed Alliance.
The bill places guardrails on the use of step therapy by state regulated health plans (incl. Medicaid, commercial plans, and ACA/NY state exchange plans, but not self-funded plans) such as:
Prohibits off-label stepping;
Limits step therapy to no more than 2 drugs;
Limits step therapy to no more than 30 days or a timeline established by current evidence-based guidelines; and
Requires health plans to accept a health care provider's attestation that a patient has tried and failed on a medication previously.
The new law takes effect 1/1/26 to give health plans time to adjust their policies.
Step therapy is a form of utilization management used by health plans and PBMs to cut costs by requiring patients to try one or more less expensive medications before they can receive the medication originally prescribed. Step therapy is an issue for people with serious medical conditions because it can delay their treatment and lead to a worsening of their condition. Read a FAQ about the new step law here.
This bill builds on a 2016 New York law. Several other states have adopted or are considering step therapy reform, and many patient organizations are pushing for a national step therapy reform bill called the "Safe Step Act" to address this problematic practice.
NY Releases Rare Disease Report
NY Releases Rare Disease Report
Report identifies needs of people with rare diseases in New York state
Report identifies needs of people with rare diseases in New York state
The New York State Dept. of Health has released the final report of a Rare Disease Work Group, created by the state Legislature to " identify best practices that can improve awareness of rare diseases and refer people with potential rare diseases to specialists, and evaluate barriers to treatment, including financial barriers".
The Work Group, of rare disease community stakeholders appointed by the Legislature and Governor, included people with rare diseases, medical providers and representatives of the pharmaceutical industry and health plans. The Work Group spent over a year on the report, which was divided into 4 key areas of concern: Awareness & Diagnosis, Access to Care, Emergency Preparedness, and Patient & Caregiver Support. The 24 page report lists a number of concerns for people with rare diseases and offers over 20 recommendations for addressing them, with the goal of improving health outcomes for people with rare diseases. Find the report here.
Among the Work Group's recommendations is "creation of an advisory group . . . to collaborate about (rare disease) community needs and ways to address them", replacing a temporary Work Group with a sustained effort to help the estimated 1.8 million people with a rare disease in New York.
Questions about the Work Group report can be directed to the NYS Dept. of Health. Note - our NYSRDC Contact Person Bob Graham served as a member of the Work Group.
Rare Disease advocates in the news!
Rare Disease advocates in the news!
People power takes center stage for rare disease day 2025
People power takes center stage for rare disease day 2025
Hear Vito Grasso, father of a daughter with a rare genetic disease and executive vice president of the New York State Academy of Family Physicians, as he speaks with host David Lombardo on the WCNY news show Capitol Pressroom this March to make the case for a New York State Rare Disease Advisory Council. Listen here
See Frank Rivera, a person with a rare disease and other rare disease patient advocates from across New York state work to raise awareness of rare diseases and make the case for a New York State Rare Disease Advisory Council in Albany this February for national rare disease day on the Spectrum News 1 show. Watch here.
Some facts about rare diseases in the US:
Some facts about rare diseases in the US:
A rare disease is one which affects fewer than 200,000 people in the country. (Source: US Food & Drug Administration)
There are an estimated 10,000 rare diseases. (Source: US National Institutes of Health)
An estimated 25 - 30 million Americans, or 1 in 10, have a rare disease. (Source: US National Institutes of Health)
Almost half of all people with a rare disease are children. (Source: Every Life foundation)
On average, it take a person an average of 6 years to receive a diagnosis. (Source: National Organization of Rare Diseases)
Almost 95% of rare diseases lack a specific FDA approved treatment. (Source: US Food & Drug Administration)
Find help for managing the life challenges associated with having a rare disease.
Read up on health policy news and issues affecting people with rare diseases in New York State.
Look for organizations that offer programs for people with rare diseases and support research.
A collection of tips and information to help you advocate for your community and your issues.
Learn more about treatment for, and research into, rare diseases from public sources.
News and events from New York State and beyond specifically for people with rare diseases.
There's strength in numbers!
There's strength in numbers!
People with different rare diseases face many of the same challenges, including finding a diagnosis, getting quality health care, and managing the life struggles associated with having a rare disease. By working together to learn, share, and advocate we can make a difference for us all!
Rare disease advocates and Legislators in Albany 2/25.
NYS RDAC Bill Passes Senate!
NYS RDAC Bill Passes Senate!
Will create a New York State rare disease advisory council
Will create a New York State rare disease advisory council
Bill S.1287a / A.1296a, from Senator Roxanne Persaud (19/D) & Assemblywoman Amy Paulin (88/D), passed the NY Senate unanimously on March 19., following unanimous passage by the Health Committee March 4th. The bill now needs passage by the Assembly Ways & Committee to advance to a vote by the full Assembly.
Efforts to pass the bill are being led by the National Organization of Rare Disorders and a coalition of New York state rare disease groups. To mark rare disease day 2025, members of the NYS rare disease community joined NORD for a patient advocacy day in Albany on 2/25 to press for the RDAC bill. NY is part of the NORD campaign to establish RDACs in all 50 states, with 29 states adopting a council co far.
The bill will create a permanent rare disease advisory council under the Dept. of Health to study the needs of people with rare diseases and make recommendation for addressing them. The RDAC will build on the Rare Disease Work Group which released it's report 12/24. Among it's recommendations are the establishment of a permanent council to focus on rare disease needs. When established, a New York State RDAC will consist of patients, healthcare providers, pharma, and health plans. Read the bill and get updates on it's progress.
The bill has until mid June to pass before the Legislature goes on recess.
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