Rare disease advocates push for local insurance reforms, improved access to care

Odds are, most people have probably met someone with a rare disease — or even has one themself.

While each condition on its own might be uncommon, altogether there are about 25-30 million people in the U.S. currently living with a rare disease, according to the National Institutes of Health. About half of these people are children.

But despite the prevalence of rare disease as a whole, advocates say many patients face additional access barriers when seeking treatment versus patients who have more common illnesses.

“You can have a very ordinary condition, and it’s still challenging. If you have a rare condition, you add orders of magnitude of more complexity and difficulty and frustration and trying to get the services that you need,” Dr. Ada Hamosh, a geneticist at Johns Hopkins Medicine and the chair of Maryland’s Rare Disease Advisory Council, told News4.

Multiple patients and caregivers told News4 at a Feb. 24 congressional briefing held by the National Organization for Rare Disorders (NORD) that one of the most challenging aspects of their day-to-day lives is dealing with health insurance.

NORD recently released their annual state report cards, which track states’ progress in policy areas that impact the lives of people with rare diseases and their families. D.C., Maryland and Virginia all got an overall grade of B, which is in line with the rest of the U.S., but breaking down the grades by policy area shows more fluctuation — especially in categories related to insurance.

There were many insurance-related areas that D.C., Maryland and Virginia are doing well in, according to the report cards.

For example, D.C. and Maryland have robust regulations for out-of-pocket drug prices that cap costs, require plans are standardized, and limits or prohibits deductibles for prescription drugs.

However, advocates say there are some crucial areas where reforms are still needed.

“I think the challenge for patients, for providers, for everybody in between, is the incredibly fragmented health care system that we live in. We don’t have a system — it’s broken,” Hamosh said. “[…] and the details are what matter, and particularly for individuals with rare disease, sometimes the very, very fine print is the most important thing for you, and you don’t even know to look for it.”

‘It’s what they need, literally, to eat and survive’

Some diseases, many of which are considered rare, can only be effectively managed with specialized diets and formulas that are referred to as medical nutrition. But treatments that fall under medical nutrition can be expensive and are often complicated to get covered.

“These are not supplements. These are not vitamins. These are actual specially formulated foods and formulas that are designated as a medical food federally. However, not all insurance plans always consider them to be a food,” said Carolyn Sheridan, the associate state policy director for NORD. “So sometimes these formulas cost people $30,000 a month, $30,000 a year, and it’s what they need, literally, to eat and survive.”

Sheridan went on to explain how coverage requirements for medical nutrition can vary state by state, with some only mandating coverage for certain diseases or certain types of medical nutrition.

NORD grades state medical nutrition protections based on state Medicaid programs and private insurance requirements, including the types of medical nutrition covered, what limits there are and how many conditions are covered. States with higher grades have more comprehensive requirements and fewer limits on what can get covered, NORD says.

Maryland and Virginia both got Bs, and the District got a C. News4 reached out to the D.C. Department of Insurance, Securities and Banking (DISB) about whether there are any plans for regulations that might make medical nutrition more accessible.

“Regarding medical nutrition, in 2022, the District of Columbia passed D.C. Law 24-168, the ‘Medically Necessary Foods Coverage Act of 2022’ which requires health insurers to provide coverage for medically necessary foods,” a DISB spokesperson wrote.

The law, however, restricts the coverage requirement to only certain diagnoses.

When it comes to private insurance companies, states are supposed to play the primary role in regulating the insurance industry per a 1945 law called the McCarran-Ferguson Act. But states still don’t have as much power over plans from private companies than they do over state-regulated plans.

During the NORD briefing, Hamosh shared the story of a patient with phenylketonuria, or PKU. People with the disease are unable to break down an amino acid called phenylalanine, which causes it to build up at life-threatening levels. It’s treated with a low-phenylalanine diet and a regimen of specialized formula that serves as a protein substitute. Without treatment, patients can develop severe, sometimes irreversible, neurological and cognitive issues, and can even lead to death. Out of pocket, these foods and the formula can cost thousands of dollars per month.

In the case of Hamosh’s patient, her private insurance plan would not cover her formula, forcing her to go without.

“On formula, she was a working woman, good wife, mother to two kids, totally competent human being, living her life as we all wish to,” she said. “Off formula, she was horribly depressed because one of the things that happens in adults is depression and anxiety if you’re not treated for PKU.”

The insurance only agreed to cover her formula after she had to be admitted to a psychiatric hospital for severe depression, Hamosh said. The insurance did cover the first two days of the hospitalization, but Hamosh said the hospitalization wouldn’t have happened in the first place if the patient had been able to access her formula.

Getting care covered

Many rare disease patients also have to navigate a practice called step therapy. Sometimes called fail first, it’s used by insurance companies to cut costs.

Rather than covering the treatment recommended by the patient’s health care provider, the insurance company will make the patient try alternative, less expensive treatments. Only if those treatments fail will it cover the one initially recommended by the provider.

“It can be incredibly harmful,” said Carolyn Sheridan, the associate state policy director for NORD. “Patients often, in our community, rely on very specific, non-interchangeable treatments, and it can lead to delays or worsened symptoms and increased long-term health risks.”

The practice sometimes has an outsized effect on people with rare diseases, who often require uniquely tailored or experimental treatments, Sheridan explained.

“It is very, very common that individuals with rare diseases are taking very high cost therapies. These are innovative medicines. They are on the cutting edge of research and development, and they are often relying on techniques and technology that are still kind of gaining ground,” she said. “We end up seeing that these therapies are costing hundreds of thousands of dollars per month to get filled, and the insurance companies are seeking to control the costs where they can and utilization. And so, unfortunately, rare disease patients do often bear the brunt of that.”

In the step therapy and fail first category, NORD said it grades states based on whether states have enacted step therapy protections, have established clear and accessible exception processes, require timely insurer decisions, and ensure step therapy protocols are grounded in medical criteria developed by independent clinical experts. They also said its grades are for state-regulated insurance, only, as states don’t have as much power over private plans as they do those regulated by the state.

The U.S. overall got a B in step therapy protections, while D.C. got an F and Maryland got a C.

“D.C. having an F means that there is nothing on the books in the state on this. The majority of states have enacted sort of protections and reforms around the practice of step therapy,” Sheridan said. “Maryland came in at a C, which means they have some protections, but they lack consistency in their best practices nationally.”

News4 reached out to D.C. and Maryland’s local governments to see if there are any plans to enhance or create step therapy protections and what patients should do in the meantime.

In a statement to News4, a spokesperson for DISB wrote, “It’s accurate that there are no regulations of the practice of step therapy on the books, nor plans that we are aware of at this time.”

A spokesperson for the Maryland Department of Health wrote in a statement to News4, in part, “Maryland Medicaid Fee-for-Service (FFS) program has long used step therapy–a prescription drug policy used by health plans that requires a patient to try one or more lower-cost or preferred medications first before the plan will cover a different, usually more expensive, drug–and preferred drug lists (PDLs) as tools to promote safe, clinically appropriate, and cost-effective prescribing. There are no plans to change our current step therapy process. Maryland Medicaid has put in place robust safeguards to ensure patients can access needed medications without interruption.”

The spokesperson added that 97% of the prescription covered under the FFS program are filled with medications on the preferred drug list, which they said indicates the preferred drug list aligns with clinical practice.

A spokesperson for the Maryland Insurance Administration also told News4 that the state has very protective utilization management laws that might not be reflected in its step therapy grade. They said while they were given a D in the “Categories of Exceptions standard” category, which factors into the step therapy grade, they believe they should have gotten a B due to having four out of five exceptions on which NORD says it bases its grading.

Maryland consumers also have the right to appeal any health insurance denial for medically necessary treatments, according to the spokesperson. The Insurance Administration has a 24/7 Medical Necessity and Emergency Appeal hotline at 1-800-492-6116 and has a Health Coverage Assistance Team for people looking for help with a health coverage issue.

Virginia, however, got an A when it comes to regulating step therapy.

“What D.C. and Maryland can do is look to their neighbor Virginia and see that they have exemptions in place. They have protections where if patients are meeting certain circumstances, they automatically don’t have to deal with step therapy requirements,” Sheridan said. “Their neighbor, Virginia, has timelines in place that makes it so that insurance plans have to reply in a certain amount of time, and they make these processes accessible to not only the provider, but the patient as well.”

Protecting patients in state plans

But Virginia isn’t perfect either. It got a C on protecting patients in state-regulated insurance — specifically in short-term, limited-duration plans, or STLDs, which are not subject to the Affordable Care Act’s requirements.

“We often call them ‘junk insurance,’ and that’s because they can deny coverage to somebody based on pre-existing health conditions, and they often exclude coverage for essential health care services,” Sheridan said.

In Aug. 2025, the U.S. Departments of Labor, Health and Human Services and the Treasury announced that they would no longer be prioritizing the enforcement of regulations for STLDs and encouraged states to do the same.

“So right now, state level restrictions that go above and beyond the federal floor is really the primary protection that patients have right now against this kind of inadequate coverage,” Sheridan said.

In a statement to News4, the commonwealth’s State Corporate Commission wrote, “From what the SCC Bureau of Insurance said, any restrictions on short-term, limited-duration (STLD) insurance plans in Virginia are based on laws set forth by the Virginia General Assembly: § 38.2-3407.21. Short-term limited-duration medical plans. This law has remained unchanged as we near the conclusion of the 2026 Virginia General Assembly’s regular session. Individuals may submit a question or complaint related to STLD insurance plans to the State Corporation Commission’s Bureau of Insurance, Life & Health Consumer Services Section.”

D.C. and Maryland both got Bs in this area.

Looking forward

Advocates say they hope that further awareness of the struggles rare disease patients face, and of the existence of rare conditions themselves, can help fuel policy change, both on local and national levels.

“We’re not seeking to compare states to one another. This is really meant to be a policy-making and an advocacy tool,” Sheridan said of the report cards. “A comprehensive evaluation in areas where states have lawmaking authority to give lawmakers and advocates data on how to drive meaningful change in areas that will really impact their access to care.”

“Advocacy is absolutely central to the rare disease space, because there are rare diseases, there are ultra rare diseases, there’s hundreds and hundreds that’s really rare,” Hamosh said. “It’s a matter of making people aware of the fact that this condition exists, telling people the stories of what people are going through.”