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Learn the Key Issues

Learn_Key_Issues_ImageFor more than 30 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.

Medical_Foods_IconThere are multiple rare disorders which require special nutrition in order to prevent serious disability and allow for normal growth in children and adults. For patients living with these conditions, effective medical foods are the only viable treatment option available.

However, coverage and availability of medical foods varies widely between the states. For example, some states require coverage only for inherited metabolic diseases, such as PKU, and others include a range of metabolic conditions. What’s more, states often place arbitrary limits of medical foods coverage based on cost, age, or even gender.

NORD encourages each state to adopt coverage mandates for medical foods without arbitrary limitations.

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_IconsStates have wide discretion on which conditions newborn children are screened for, including mandated times to complete the panel analysis and uses of blood spot data following the test. NORD encourages every state to adopt the recommendations of the HRSA Recommended Uniform Screening Panel (RUSP).

NORD supports robust, well-funded newborn screening programs in every state, and encourages state lawmakers to prioritize the early detection of these debilitating diseases. NORD encourages every state to adopt the Uniform Newborn Screening Panel developed by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, and will continue to advocate for this adoption in each state that currently does not screen for the disorders included within the panel.

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).

Prescription_Drug_IconUnder the Affordable Care Act, many people with rare diseases can now access affordable health insurance. However, some insurance policies place orphan therapies on the so-called “specialty-tier” of a drug formulary. For drugs placed on this tier, enrollees often must meet cost sharing requirements that can be as much as 50% of the actual cost of the medication.

Health plans have used tiered cost-sharing in their drug coverage as a way to encourage patients to try lower-cost medications before turning to more expensive ones. Costlier options would appear on the second or third tier of a plan’s formulary where the patient cost-share would be flat co-pay that increased moderately each tier.

Today, however, it is common for formularies to include a fourth, fifth, or even higher tier, where the cost-share is often a percentage of the actual cost of the medicine, rather than a flat co-pay. This type of requirements can require a patient to pay as much as 50 percent of a medication’s cost, which can translate to thousands of dollars per month in cost-sharing for even a single medication.

To address this issue, several states have passed legislation mandating a cap on out-of-pocket costs for specialty medications. These caps range from $100 to $500 per-month per-medication, depending on the type of plan (Bronze, Silver, Gold, or Platinum).  NORD strongly supports the enactment of these types of policies as they greatly benefit rare patients at a minimal impact to the overall insured population.

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.

Medicaide_IconIn 2013, 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 below 138 percent of the federal poverty level.

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.

NORD strongly supports expanding Medicaid in every state, as it would increase access to needed health services and allow thousands of Americans with rare diseases to gain health insurance coverage.

Biosimilars_IconA biosimilar product is approved when it has shown a high similarity to an already approved FDA biological product, and has no meaningful difference in safety or efficacy.



Biological products differ from generics, they are not identical to their biologic counterpart. Due to the sensitive manufacturing process of biological products, even the slightest change can have a significant negative impact on a patient’s therapeutic regimen. This is a serious issue for a large segment of the rare disease community because not all drugs work the same for every patient, especially when dealing with unpredictable disease progression.

To ensure patient safety, health care providers need to know which medicine was dispensed to the patient, whether a substitution was made and to what alternative product. These factors are all critical information that needs to be taken into consideration when supplying a patient with medication.

Step therapy is a process by which insurance companies require a patient to take one or more alternative medicines before being put on the one preferred by their doctor. 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-therapy can delay better treatment and increase costs.

As the use of step therapy has increased (at least 60 percent of commercial health plans have implemented it), so has the need for states to ensure that these requirements do not needlessly interfere with appropriate care for patients. For instance, in some cases, patients switching insurance plans may be required to go off a successful treatment and take a less effective medicine simply because it is also less expensive.

There is not a one-size-fits-all approach to incorporating the rare patient voice into government. However, we have seen that the needs of the rare community will be overlooked if there is not a way to ensure our voices are heard.

NORD’s vision is for every state government to have a formal process in which our leaders are required to listen to the recommendations of rare disease experts and patients.
Helping the rare disease community starts with ensuring that patients and families have a voice in government. Several states have recognized this and worked with local advocates to create new Rare Disease Advisory Councils. Their purpose is to evaluate and make recommendations to the state on issues related to health care access and coverage for rare disease patients.

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