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Survey: Parents Cite Insurance Headaches, Knowledge Barriers Around Rare Disease Management


Survey results underscore parents’ frustration with insurers when it comes to caring for their children with rare diseases.

Patients with rare diseases may benefit from time limits for processing coverage decisions, increased transparency in the claims and preauthorization processes, and more expansive authorizations for continual needs, according to findings of a qualitative study that assessed experiences of both patients and parents. Results were published in the Orphanet Journal of Rare Diseases.

Although it is estimated that more than 6800 rare diseases collectively affect between 25 million and 30 million Americans, these conditions are often difficult to diagnose, have few available treatment options, and tend to have limited research on the diseases’ natural history, authors explained.

“There is a complicated balance between decreasing health care costs and meeting patient needs,” they said, noting the lack of research on parents’ perspectives on their experiences with health insurance companies or on how policies may impede care for their children.

To address this gap, investigators conducted a series of semistructured interviews of parents with children who have metachromatic leukodystrophy (MLD) or spinal muscular atrophy (SMA). These diseases were selected due to their specific characteristics and orphan drug statuses.

In particular, “both diseases have an identified genetic mutation and varying degrees of severity within the disease. Both conditions impact motor function, which may require physical therapy or supportive equipment to aid mobility.” Although the drug nusinersen was approved by the FDA in 2016 for SMA, at the time of the study no orphan drug for MLD was available.

A total of 15 parents were included in the final sample, 4 of whom had 1 child with MLD, 10 had 1 child with SMA, and 1 parent had 2 children with SMA. All children were insured by a parent’s employer, and 9 were double or triple covered through public insurance.

Throughout the interviews, which lasted around 30 minutes each, several major themes were identified, including difficulties obtaining secondary insurance based on state eligibility criteria, difficulty accessing needed health care services, and need for repeated interactions with insurance representatives.

“The absence of clearly documented or widely recognized clinical guidelines exacerbated the difficulty accessing care identified as necessary by their health care team, such as therapy and equipment,” researchers wrote.

For emotional support and knowledge, parents reported turning to disease-specific organizations, social service agencies, or medical professionals, among other groups.

After devising an explanatory model based on themes and subthemes, researchers concluded that “the cyclical nature of interacting with insurance for redundant reauthorizations and the outside support and financial assistance that is often necessary to address their child’s health care needs” became apparent.

Participants also described confusion when it came to health insurance documentation, while others described the challenges of piecing together information about their child’s condition over time.

Some individuals reported difficulty obtaining secondary insurance for their children; however, all parents said their child had never been uninsured.

“The desire to have immediate coverage for treatments, specifically nusinersen, led one mom to decline anesthesia during childbirth to ensure she could complete the Social Security paperwork and email her insurance company following her child’s birth,” authors said.

Difficulties relating to insurance emerged as a main obstacle for study participants.

One parent of a child with SMA stated: “Almost every single state in this country has a waiver that allowed medically disabled children to get on the state Medicaid system, so that they can get access to all of those services, regardless of parental income, and our state does not have that, so that has been incredibly difficult for us, and has been a major barrier in getting her care, you know, nursing, and some of the equipment that is only covered by Medicaid, it’s not covered by private insurance.”

Smaller employers and lower-quality plans offered also posed challenges to parents, who cited health insurance as a determining factor in many employment decisions and recounted fear of job loss or repercussions due to the costly nature of rare diseases despite legal ramifications of discrimination.

Each individual included described frustrations related to contacting insurance companies.

“I mean, I hate it [interacting with insurance], but it has to be done, because we can’t afford to not have it be done right, so we just have to continue to keep this documentation of every call and every time and what they said, because I feel like I’m more organized than they are, and I feel that I have to be, because my daughter’s definitely worth it, so this is where we have to be,” one parent said.

The greatest barriers to coverage among participants were related to equipment, nursing care, therapy, and out-of-network providers, authors said. Lack of knowledge of the disease led to inadequate comprehension and understanding of the patient’s medical situation among insurers. “Many people discussed the concern about the health consequences of the delays or denials of the insurance company, especially the potential for worst health outcomes or lost opportunities, such as clinical trial participation,” authors added.

Fears of losing coverage for pre-existing conditions weighed heavily on many parent’s minds as well.

Overall, “a single health insurance policy was rarely enough to cover the cost of all health care needs for their child, which resulted in parents viewing access as a web of different policies and social service supports,” researchers wrote.

When compared with parents of children with SMA, parents of those with MLD reported that insurance companies had fewer established guidelines for the disease, increasing the need for allied health professional interventions to facilitate access to care.

Parents reported that insurance representatives’ lack of knowledge “led to greater frustrations when insurers did not consider the medical benefits and long-term cost savings of access to equipment, therapy, and diagnostics.”

One potential solution to these challenges is the use of patient navigators—social workers or medical professionals who can help guide parents or caretakers through the clinical aspects of the health care system.

In addition, investing in programs that could lead to more timely diagnosis—including access to genetic testing—could benefit patients, while expanding access to Medicaid and the resources to limit the time necessary to review an application could result in additional avenues to obtain insurance, authors said.

Insurers could also employ specialists trained to handle complex care cases to help ease the burden on caregivers.

The low number of parents with children with MLD included in this study marks a limitation, and participants may have also been subject to selection bias. Furthermore, no participants were uninsured or on public insurance exclusively, limiting the generalizability of the findings.

“The complexity of the US insurance system requires parents to enroll in multiple plans to maximize coverage, an option that is not available for all families,” researchers concluded.

“There are policy initiatives that could impact payment and delivery systems that could greatly improve patient experience and outcomes,” they wrote, but incorporating the caregiver and patient perspective is paramount in reform efforts. “Additional studies are needed to understand the full scope of barriers to care and policies that can facilitate better care access for families living with rare diseases.”


Pasquini TLS, Goff SL, Whitehill JM. Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences. Orphanet J Rare Dis. Published online July 15, 2021. doi:10.1186/s13023-021-01943-w

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