For more than 35 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies, advancing medical research, and providing patient and family services for those who need them most. NORD works closely with advocacy partners on the federal and state level to encourage policies that are supportive of the needs of rare disease patients and their families.
Learn the Key Issues
There are multiple rare disorders that require special nutrition in order to prevent serious disability and allow for normal growth in children and adults. For many patients living with these conditions, medical nutrition can be the only viable treatment option available.
Third-party payment for foods for special dietary use is inconsistent, and state statutes regarding reimbursement vary widely. Some states require coverage only for inherited metabolic diseases, such as PKU, and others include a range of metabolic conditions. While much can be done at the federal level to increase access to medical nutrition, states also play an integral role in ensuring access to these critical therapies.
Who is eligible for Medicaid foods coverage is just as important as what kind of coverage they will receive. Unfortunately, many states limit coverage (either in commercial insurance mandates or in Medicaid) to certain disorders. Traditionally, most states have focused their coverage on metabolic conditions and have expanded eligibility to a variety of such disorders.
More recently, however, states have begun to expand coverage for other conditions that require specialized nutrition. Many of these disorders are allergic in nature (symptoms are caused by the body’s reaction to certain food ingredients) and can be misconstrued as food allergies that can be easily avoided. In truth, these disorders require highly specialized nutritional products in order to be properly treated.
Read Jennifer's Story
“Patients living with rare, genetic diseases like me are left to navigate a state policy environment rife with loopholes in medical foods coverage that result in the discriminatory provision of costly treatment based upon age, gender, state of residence, or employer.”
Jennifer has a rare, genetic disorder called Phenylketonuria (PKU). Read her full story here.
Newborn screening (NBS) is one of the most successful public health programs ever enacted, saving thousands of lives each year. Newborn screening allows physicians to catch a heritable disease early and start treatment almost immediately following birth. As a result, many of the worst effects of a disease can be mitigated.
Newborn screening programs are regulated and operated almost entirely at the state level, allowing customization of a program to the state’s specific needs. NORD encourages every state to adopt the Recommended Uniform Screening Panel (RUSP) developed by the Advisory Committee on Heritable Disorders in Newborns and Children.
State Processes for Adding New Conditions
A state’s support for its NBS labs (including funding for personnel and new tests) is critically important. The process by which states add new conditions to their program is incredibly important as well. These aspects have a big impact on the success of a state’s program.
Storage and Research Uses of Dried Blood Spots Used in NBS
The primary tool of NBS, the dried blood spots (DBS) drawn from a baby’s heel shortly after birth, is an invaluable source of research data. Currently, numerous states do not have a policy for retaining DBS after its use in screening to be de-identified and used in research. NORD strongly believes that states should retain DBS for use in research. Research of DBS is critical to developing additional newborn screening tests that can save lives.
Read Jana's Story
For Stephen, a late diagnosis of isovaleric acidemia (IVA) at age 3 ½, altered the course of his life and redefined his milestones.
Stephen suffered a metabolic acidosis that resulted in a traumatic brain injury. He was in a coma on life support for three weeks and was left with severe intellectual and developmental disabilities, seizures, a gastrostomy tube and cortical vision impairment. The devastation of what Stephen endured was compounded by the realization that it could have been prevented had he been screened for IVA at birth. Unfortunately, IVA was not on the screening panel in Virginia and most states at the time of Stephen’s birth leaving all babies at risk of sharing Stephen’s fate.
Our daughter Caroline, now thirteen, was born a year after Stephen’s crisis. Our experience with Stephen influenced our decision to have an amniocentesis. The results indicated that she too had IVA, which was confirmed with further testing at birth. This early diagnosis enabled Caroline to be placed on the proper diet and medications indicated for the management of IVA, avoiding the devastating consequences that Stephen experienced. Today, she is a healthy, normal young teen experiencing all the many milestones in a child’s life that Stephen missed out on.
Jana Monaco is the mother of Stephen and Caroline who were both diagnosed with isovaleric acidemia (IVA).
Innovative new treatments are enabling rare disease patients to live healthier, happier lives. Unfortunately, however, the cost of these medicines can often be prohibitive. NORD recognizes that the high cost of drugs has a direct impact on patient access. Addressing this and other barriers to care is a priority for NORD. Further, we acknowledge the immense pressure that payers are
under to control costs for the sake of all beneficiaries. Yet we do not believe that attempts to redress rising costs should come at the detriment of patients. Failing to support patients today, who are in need of immediate assistance to pay for their prescribed treatment, could have a negative impact on their health.
To assist patients who find themselves in this difficult situation, several states have passed legislation mandating a limit on out-of-pocket costs for medications. These limits can be applied in different forms, such as a per-drug cap or by mandating a copay-only structure in certain health plans.
Read Christina's Story
This year alone, my son’s medical bills will be over one million dollars for treatment. Caring for my child has put a financial strain on my family, as a box of his factor ranges from $3,000-$6,000, and he is a child, his medicine is dosed by weight, so the older he gets the more it will cost for his life saving medicine.
Currently our monthly treatment bill is $69,744, as the medicine is considered a specialty tier drug.
Christina is the mother of a son with hemophilia.
In 2012, the Supreme Court decision in National Federation of Independent Business v. Sebelius enabled states to choose whether or not to expand the financial eligibility for their Medicaid program. Since the decision, a growing number of states have decided to expand their Medicaid programs to cover all individuals at or below 138 percent of the federal poverty level (FPL). States that have opted not to expand their eligibility have left approximately 5 million Americans without health insurance who would otherwise be eligible for Medicaid coverage.
The State Children’s Health Insurance Program (CHIP) is an important source of health coverage for children and families that are ineligible for traditional Medicaid. All states provide increased coverage for children and families through CHIP but may operate the program slightly differently. For example, some states use the federal funding for CHIP to expand their Medicaid program to reach this target population (this is sometimes referred to as “CHIP-funded eligibility”). Other states use these funds to operate a separate CHIP program that provides separate coverage from their Medicaid program.
Medicaid 1115 Waivers
In an attempt to control health care costs and improve services for Medicaid beneficiaries, states have sought Section 1115 waivers that enable them to make substantial changes to Medicaid benefits and eligibility. Section 1115 waivers allow states to administer demonstration projects that have been approved by the Centers for Medicare and Medicaid Services (CMS). These projects waive certain Medicaid requirements and permit a state to direct federal Medicaid funds in ways that would otherwise not be permitted under federal law. These waivers are supposed to align with the objectives of the Medicaid program, but NORD is concerned that several of the current state proposals would restructure Medicaid benefits and eligibility in a way that undermines the purpose of the program and disproportionately affects people with rare diseases.
Step therapy (a.k.a. Fail First) is a procedure by which insurers (public or private) require a patient to take one or more alternative medications before being put on the medicine preferred by their provider. While this is done by insurers as an attempt to control health care costs, step therapy has been increasingly applied to patients with little regard to their medical situation or treatment history. As a result, in many cases step requirements can delay appropriate treatment and ultimately increase costs, not lower them.
NORD supports state efforts to place adequate patient protections around the use of step therapy that will ensure patients are protected.
Addressing the needs of rare disease community begins with ensuring that patients and their caregivers have a voice in government. Several states have recognized this and worked with local advocates to create new Rare Disease Advisory Councils (aka a Task Force or Commission).
The purpose of these councils is to evaluate and make recommendations to the state on issues related to health care access and coverage for rare disease patients, as well as disseminating information on specific rare diseases.
Ultimately, NORD believes that the establishment of a focused rare disease advisory council can help pave the way for better health care policy in a given state.
NORD strongly supports patient access to unapproved therapies. However, the Right to Try bills that have been passed in states do not enact policy changes that would give rare disease patients greater access to promising investigational therapies. Instead, these bills are likely to do more harm than good. This is because the Food and Drug Administration (FDA) already allows access to experimental therapies through expanded access programs. All Right to Try proposes to do is remove FDA from the initial approval process for accessing an investigational therapy outside of a clinical trial.
Instead of seeking to dismantle the current system of enabling patients to access investigational therapies, NORD believes that all stakeholders should work to improve the expanded access system. We can do this by improving the FDA expanded access program and providing greater transparency about the drug development process.
As NORD continues to improve and expand our work at the state level, there are several policies we are engaged on that are critical to the rare community.
EMS Protocols for Rare Diseases
One of the immense challenges facing many rare disease families is how to ensure proper treatment and care in emergency situations. Whether at the emergency room or with a paramedic, many emergency medical services (EMS) personnel do not have the resources to ensure rare disease patients are properly treated.
Telemedicine offers an opportunity that is particularly beneficial to the rare disease community: better access to medical specialists who may have unique knowledge and experience treating rare diseases. In addition, telemedicine can help reduce disparities in access to care for all types of medical needs and ultimately increase health care quality. However, there are several roadblocks that may prevent rare disease patients from experiencing the benefits of telemedicine, such as restrictions in physician licensure, prescribing authority, parity in reimbursement, and coordination with local providers.
Precision Medicine and Genetic Testing
Next-generation genetic sequencing represents one of the most promising methods for diagnosing individuals with rare, genetic disorders. For many, if not most, rare diseases, genetic sequencing is the only reliable method for diagnosis. The advent of new technologies has brought hope to millions of Americans with rare diseases still waiting for an accurate diagnosis. There are millions of patients in the U.S. who are still undiagnosed, and genetic testing may be their only hope. NORD supports increasing coverage to appropriate forms of genetic testing in order to address medical needs.
Private Insurance Market Stabilization
Over the past year, the federal government has taken various actions to destabilize private insurance markets across the country. There are, however, various actions states can pursue to counter or mitigate these destabilizing actions, such as stabilizing and strengthening their health insurance markets, and ensuring individuals with rare diseases maintain adequate coverage.