Why Becoming a Rare Disease Expert Isn’t Enough for Parents

A woman who knew she was giving birth to a child with spinal muscular atrophy, a rare and progressive neuromuscular condition, declined anesthesia because she wanted to be sure that as soon as the child was delivered, she could complete the social security paperwork and email her insurance company to secure coverage for treatment with Spinraza, a medication approved to treat the condition.

The anecdote comes from a July 2021 study in the Orphanet Journal of Rare Disease, which looks at the experiences of parents navigating the U.S. health insurance landscape for children with rare disease. For the study, researchers in the Department of Health Promotion and Policy at the School of Public Health and Health Sciences at the University of Massachusetts, Amherst conducted semi-structured interviews with parents of children with the neurodegenerative condition metachromatic leukodystrophy (MLD) and spinal muscular atrophy (SMA). The researchers chose the conditions because of specific disease characteristics and orphan drug status.

The researchers interviewed 15 parents and found that they had difficulties obtaining secondary insurance based on state eligibility criteria, difficulty accessing needed healthcare services, and required repeated interactions with insurance representatives. Recruitment of subjects ended when the interviews produced no new themes.

The researchers found familiar frustrations here for anyone who has navigated any bureaucracy’s phone system, been provided with contradictory or wrong information, and had been told something their child needed would not be covered, even though a medical expert said it was medically necessary. While it’s one thing to weave through the maze of a cellphone company or bank’s phone system, imagine doing so while suctioning a child’s trachea tube while on hold, as one parent described.

One common theme to emerge from the study was the frustration parents felt dealing with insurance company representatives who had no understanding of the particular condition that a child had and the lack of deference to medical professionals to make the decision about what care a patient needed.

In one instance, a child with SMA whose doctor said should be on a pulse oximeter to monitor the oxygen level in her blood, but the insurance company denied covering it several times. Finally, the doctor wrote for oxygen (something the child did not require and is contraindicated in SMA), which was necessary to get the insurance to approve the pulse oximeter.

In one case, a participant in the study reported that she must call a durable medical equipment company directly to ensure a claim will be submitted to her insurance company because if the company makes an auto-shipment without billing the insurance company, she would be responsible for the bill.

While the authors suggest a list of reforms to improve the landscape—this includes greater transparency, the use of trained rare disease navigators, centralized resources on financial assistance programs, consistent mechanisms for rare patient enrollment in insurance, and consistency of coverage–the takeaway for patients may have less to do with needed reforms and more a reminder for the need for vigilance.

“Individuals are often grateful for a supportive network of peers and providers to identify programs and eligibility for additional assistance, but the final responsibility falls to them,” the authors write.

As we think about the efforts regulators, providers, and drug developers have made to become more patient-centric, the same should be demanded of insurers. Parents of children with rare diseases often become the greatest experts on their children’s diseases, but that’s not enough. They must become experts on health insurance as well in order to ensure proper coverage.