Participant Characteristics
A total of 15 parents participated in the study; four had one child with MLD, 10 had one child living with SMA, and one parent had two children living with SMA. Every child had health insurance through at least one parent’s employer. Nine patients were also double or triple-covered through a public insurance program such as Medicaid. Additional participant characteristics can be found in Table 1. Interviews lasted an average of 29 minutes.
Table 1
Participant Characteristics
Characteristic | N | % |
Child’s Diagnosis | | |
Spinal muscular atrophy (SMA) | 11 | 73.3 |
Metachromatic leukodystrophy (MLD) | 4 | 26.7 |
Relationship to patient (child) | | |
Mother | 14 | 93.3 |
Father | 1 | 6.7 |
| Mean (SD) | Minimum- Maximum |
Parent age | 39 (9.26) | 31–67 years old |
Child age | 6 (5.62) | 6 months to 21 years old |
Time to diagnosis (months) | 13.53 (14.3) | 0 (Prior to birth)- 48 |
Region | N | % |
South (Maryland, Virginia, Tennessee, Texas) | 6 | 40.0 |
North (New York, Massachusetts) | 3 | 20.0 |
Mid-West (Illinois, Michigan, Minnesota) | 5 | 33.3 |
West (California) | 1 | 6.7 |
Insurance type | | |
Employer sponsored | 15 | 100.0 |
Medicaid | 6 | 40.0 |
Medicare | 1 | 6.7 |
Children’s Health Insurance Plan | 2 | 13.3 |
Medical Assistance program (state or county) | 2 | 13.3 |
Education | | |
High school diploma | 1 | 6.7 |
College degree | 8 | 53.3 |
Graduate degree | 6 | 40.0 |
Currently employed | | |
Yes | 11 | 73.3 |
No | 4 | 36.7 |
Table 1: Participant Characteristics
Major Themes
A total of eight major themes were identified: 1) Health Literacy; 2) Involvement; 3) Support; 4) Obtaining insurance; 5) Interacting with insurance company representatives; 6) Accessing care; 7) Financial assistance; 8) Individual factors. Themes are described in detail below with illustrative quotes and additional quotes are reported in Table 2. Sub-themes, including disputes and emotions, provide additional detail to the experience and the model. All quotes are reported using the patients’ disease and state of residence to protect privacy.
Table 2
Additional Illustrative Quotes
Theme | Quote |
Obtaining insurance | When we tried to get Medicaid, there are literally hoops that you have to jump through to get them into a Medicaid program, at least in the state of Texas. So, you could either go down to the waiting list that took X number of years – I mean, we’re still on some of these other lists, and she was diagnosed four years ago, so a lot of these lists are, you know, 10, 12, 15 years long, for waiting lists… But you can try the Writer 28, and you have to meet at least two criteria. (MLD, TX) |
Obtaining insurance | There was another mom that had just, on the advice of a doctor, had moved from Arkansas to Texas because of the Medicaid benefits. (MLD, TX) |
Interacting with insurance company representatives | If you’re trying to manage – you have other children and you work and you’re trying to keep a household and what not, it’s hard to sit on the phone for 30 minutes waiting for someone to help you, and then, you may get redirected five times. (SMA, CA) |
Accessing care | For her, you might need a drug that is proven for cystic fibrosis, but we know for a fact that she has some of the same lung issues, but we may not be able to get the insurance to cover that equipment or that drug because we don't have the background that says, "Oh yeah, they will work for MLD too." (MLD, MN ) |
Accessing care | When we need things, we've not really had any pushback on them saying, “No, you know you all don't get that.” But I don't feel like we've really asked for crazy things that aren't necessary either. (SMA, TX) |
Accessing care: Disputes | So we were under the impression that we were being covered, but we weren’t, because our insurance company had a cap we were never made aware of [despite prior inquiries], and therefore, I fought very long to get over $3,000 worth of physical therapy appointments covered by the hospital. (SMA, TX) |
Financial assistance | Another device that was not covered is an Eye Gaze communication device was not covered by insurance, and thankfully, the school system provided that for my son while he was in preschool and not physically attending a school yet. So, if we had lived in a county or a district that was unable to do that, we would still not have a way for our son to communicate with us in an understandable way for everyone else. (SMA, MD) |
Individual factors | I’m not sure about things like PT and OT, and the reason I don’t know about that right now is because her PT and OT needs currently are covered by our state’s early intervention program, and so, there is no cap for those, so I don’t know. When she reaches the age of three, that may become more of an issue for us. (SMA, TN) |
Individual factors: Emotional factors | She has a genetic disease– we didn’t know, we didn’t anticipate it, it’s not something that happened because of malpractice or because of negligence or anything. But I certainly want everybody to be able to take care of their kids, their sick kids, as well as we can. (SMA, IL) |
Individual factors: Emotional factors | It goes back to walking around in somebody else's shoes and trying to figure it out. It is not like we are trying to take advantage of anybody when we have kids with rare genetic illnesses. It is very difficult. (MLD, MN) |
Health Literacy and Involvement
Navigating insurance correctly was viewed as a necessity. However, in most responses, individuals did not differentiate between their public and private insurance experience. Individuals expressed confusion related to health insurance documentation, such as benefit descriptions. Some people wanted help finding information, while others did not believe clearer answers existed or that insurance would provide them. Individuals spoke about the iterative process of learning the system and piecing together information over time.
You know, we have talked to a lot of organizations and individuals over the course of her 11 months of life, but I think it has really fallen to us to educate ourselves. We’ve probably talked to 50 + people from advocacy groups, to disability coalition, to lawyers, to case workers, to social workers to, you know, political advocates, and each person has provided us with a little piece of information, but it’s kind of remained up to us to sort of figure out overall how to navigate the system. (SMA, TN)
Parents felt obligated to keep detailed notes, stay actively involved in learning about their child’s disease, and ensuring care needs were met. Even parents who described a more passive approach to seeing what happens as claims moved through the system, still described taking actions, such as sending claims back to providers or pre-writing authorization letters.
Support
Disease specific organizations, disability organizations, social services agencies, and medical professionals were often seen as a valuable starting point for emotional support and knowledge. Employer benefits managers or members of the leadership team intervened to get benefits on behalf of some of the families. Most individuals spoke about the importance of peer support. This often came from patient communities, including social media.
There was at least one time where I was receiving incorrect information from our insurance company. I was put on hold, because they were trying to figure things out, and I went online, and I said, “Hey, who here has this insurance company and was told that?” and literally 30 seconds later, another mom wrote in to say, “We do. This is what I was told, and this is what you need to tell them.” So, by the time I got off hold, they were like, “Here.” I told them, “Here, this is what it is. No.” I was like telling the insurance company, “this is what it really is.” (SMA, TX)
Obtaining Insurance
All individuals stated their child had consistent insurance coverage. 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. Some participants had difficulty obtaining secondary insurance, which they attributed to state-based eligibility variations. MLD parents stated they did not qualify for medical insurance before they received the diagnosis, but sometimes they were denied diagnostic testing. Secondary insurance, especially Medicaid, was viewed as critical to accessing some forms of care, including nursing services and therapy.
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. (SMA, TN)
Employment was a critical factor in obtaining insurance for all participants, but many described the limitations based on the size of their employer or the quality of the plans that were offered. Health insurance was cited as a determining factor for any employment decisions, including one individual who, despite her age, is working to “pay my fair share”. Individuals spoke about fears related to losing a job and repercussions for being “too costly”, despite the legal ramifications of discrimination.
Trying to figure out what insurance we should get was, the hardest part, because I was too scared to call the insurance directly. Like, each of us [both parents] didn’t want to just call them and ask them, because we thought, we might get fired from our jobs, because they would find out how much it costs, because we had heard horror stories… There are laws on the book that protect you, so they can’t fire you, but it happens. Like, all of a sudden, your job just isn’t there anymore, you know? (SMA, VA)
Interacting with Insurance Company Representatives
Many individuals tried to pre-plan their short and long-term care health needs and work with insurance to see what would be covered in a specified timeframe to anticipate denials or reauthorization periods to limit disruptions in care. Everyone described frustrations related to calling insurance companies, but those whose children were asymptomatic due to current treatment regimes, stated they did not have to do this often. Individuals who had more complex health needs described the time they spent each week on the phone. When individuals contacted the insurance company, they often had to navigate automated systems, first-tier customer service representatives, and multiple people before finding the appropriate person to provide an answer. The frustration was exacerbated by the complications of daily life.
Then that means I’m suctioning his trach [tracheal tube] and having somebody on headphones [from insurance] and helping him to read his guided reading book. You know, that can make it tricky… how time-consuming it is to navigate. (SMA, MD)
Individuals described times when they felt that they received different answers from different people or mentioned inconsistencies in documentation online versus in printed materials. Although a few felt that they understood the benefits, the majority felt that vague language or inconsistencies were purposeful. After an on-going dispute where the family and their hospital believed the insurance company purposefully provided inconsistent information, one mom resorted to threatening to go to the media, after that, the issue was handled in 24 hours.
The left hand doesn’t know what the right hand is doing, and that makes it really tricky to navigate, because, you know, it puts more pressure on the parents or the caregiver to do their due diligence, where I feel like it shouldn’t necessarily be all on us to do it. (SMA, TX)
Correctly submitting documentation was described as a team effort between parents and medical providers. Providers submitting claims to the wrong insurer or incorrectly submitting claims using the wrong code could result in claims sitting in limbo for months or denials of routine claims. Certain treatments, referrals, and equipment required reauthorizations or repetitive documentation to continually prove on-going medical necessity.
She doesn't have something that's just going to get better or go away. She’s always going to have it; so I just don't know why we have to keep running through the same circles for the same thing. (SMA, MI)
Some insurance companies provided caseworkers or navigators proactively, while other participants only received caseworkers after requesting one. Caseworker quality was highly variable according to participants but often improved if the caseworker stayed with the family over time. Individuals felt that these individuals had the potential to help navigate the terminology, documentation, or provide cost saving options. People wanted to be treated with a sense of respect. When they did not feel heard or if they were treated like they were trying to “game” the system, it eroded trust, reinforced the need to be vigilant, and to go into “mama bear advocate mode”.
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. (SMA, TX)
Accessing Care
Participants reported the greatest barriers to coverage related to equipment, nursing care, therapy, and out-of-network providers. Those who were aware of tiered-financing schemes indicated their child’s providers were always on the highest tier where they would need to pay the most out-of-pocket. A common sub-theme was disputes when insurance would deny coverage to care which would then force individuals to interact with insurance again. For example, seeking out of network care was discouraged by insurance, but many parents expressed the frustration of not being able to seek disease specific expert care. As one said,
It was recommended that we go to Columbia Children’s Hospital, where they have an SMA clinic, but originally, we were denied coverage there because it was out of network, and basically I said, “Why?” They said I have a pulmonologist center up closer to home… but we would argue there is not an SMA specialist out here. (SMA, NY)
The insurance company’s representative’s comprehension and understanding of the medical situation seemed inadequate to most participants. Due to the lack of knowledge of the disease, parents wanted insurance to try to understand their case history or defer to the medical professionals related to their care needs when making coverage decisions.
She has to be on continuous pulse oximetry monitoring, which we were denied multiple times, until our doctor wrote for oxygen, and she doesn’t need oxygen. In fact, that’s kind of contraindicated in SMA, but the insurance company would not allow us to have a pulse oximeter to monitor her oxygen level in her blood and her adequacy of ventilation, until she was written for oxygen. (SMA, TN)
Nurses and therapists provided information, respite help for parents whose children often need around the clock-care, and helped children hit medical milestones. Parents were frustrated by the minimal amount of nursing care and therapy that was covered by insurance, which often seemed inadequate or disrupted care patterns that were showing mobility gains. Multiple people spoke about the annual process of trying to get clarity on coverage allowances, only to be told different information or lose access later.
Some parents felt that their total out-of-pocket costs were reasonable considering the scope and total cost of the care needs. This often came from individuals who had additional coverage, such as employment perks that covered fees or who were on secondary insurance programs. Five individuals were aware of out-of-pocket maximums for the year, four could name what month they met that maximum. There was a split between individuals who just referred to “bills” and those who could recall the exact amount for premiums, deductibles, copays, and coinsurance. Those who had deductibles said they ranged from $1,000 to $7,500 for their family and spoke about how quickly they met them.
The cost of equipment, drugs, therapy, and out-of-network services were described as the most expensive components of care. These types of services often had cost-sharing mechanisms, but the patient’s portion was still quite large. As one participant said, “A 10% copay on a $150,000 per year bill is prohibitive for most people”. (SMA, TN)
A few individuals spoke about shifting formularies, gatekeeping requirements, networked providers, and benefits that sometimes changed how the individual could access care. Sometimes these changes would be related to eligibility shifts, such as a provider who was included in Early Intervention, but out-of-network when the child aged-out. 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. Many expressed that if a doctor indicated that something was medically necessary, families should have an affordable way to access it. For example, one participant said,
It shouldn’t be about, “Oh, sorry, you can’t have this because it’s too expensive.” Well, but that’s what the patient needs. So, if that’s what the patient needs, find a way to make it more affordable so that they can have it. (SMA, CA)
Participants had different expectations about what should and should not be covered by health insurance. Some individuals were narrowly focused on specific medical costs, while others looked at the full paradigm of care and supportive technologies, such as powerchairs and adaptive beds, that impacted overall health outcomes.
Now, I am trying to get some equipment for her mattress and I am just trying to get it paid for with the proper paperwork signed and everything… I feel if I did the financial analysis on how much it costs to take care of a wound, they would certainly rather pay for the mattress, it is 300 bucks instead of the $3,000 that it is going to cost if I have to put her in the hospital time and time again. (MLD, MN)
Financial Assistance
Insurance was described as one piece in the larger financial structure. Almost every SMA patient received nusinersen through the clinical trial or the drug company’s copay assistance program. Many utilized equipment shares, local charities, small grants, or personal fundraisers to meet additional needs. If an individual did not access other financial assistance programs they indicated either none were available, they were saving it for a future need, they did not have time to complete the applications, or they believed others had greater need. Responsibility fell to parents to identify the source of funds and decide the timing of the of the application.
And I really think that when you look at someone's care needs you know insurance is one part of it but it's really like trying to understand all of the benefits including insurance that they are entitled to and how all of those pieces need to work together. (SMA, MN)
Individual Factors
The child’s health was a sub-theme within individual factors. Some parents reported that after their child took nusinersen they no longer had on-going care needs. In these cases, parents were less likely to have on-going disputes with insurance companies and were more focused on the initial struggle to access the drug.
When asked if individuals were satisfied with their insurance, many said yes, despite describing challenging experiences. One respondent stated, “That’s kind of a trick question.” A few reflected on the importance of taking care of each other. Individuals also looked at their own privilege related to education, support, and the severity of their child’s condition when reflecting on their experience.
A family that the parents are working two jobs and they are barely able to look over their bills and they just have time to pay them, if they don’t have time to scrupulously look through what is actually being billed, there’s been times where we’ve had more than $1,000 of a bill for something that was billed incorrectly, and then that turns out to be kind of an insurance nightmare (SMA, MD)
People spoke about how the coverage they could access would impact their life decisions, such as having more children. Many expressed that things were not fully in their control and they only had so much bandwidth to continually fight. The political climate and fears of losing protections for preexisting conditions weighed heavily on many. A few people spoke directly about their own mental health.
It goes back to walking around in somebody else's shoes and trying to figure it out. It is not like we are trying to take advantage of anybody when we have kids with rare genetic illnesses. It is very difficult. (MLD, MN)
Table 2: Additional Illustrative Quotes
Model
The Rare Disease Parent Health Insurance Experience Model (Fig. 1) was developed using themes generated by analysis of the interviews. Although the model was created based on the responses of parents, it could also apply to any primary caregiver of a rare disease child. The model shows the factors and processes that impact a parent’s ability to obtain medical care for their child through the U.S. insurance system and additional assistance programs, which parents experience as an interrelated system of care. These factors include critical individual factors such as demographics, location, employment, and emotional factors. Emotional factors such as uncertainty, urgency, and responsibility impacted the level of “hands-on” involvement parents exhibit while navigating insurance. Established external factors of accessibility, availability, acceptability, and quality (44) impact an individual’s health and the opportunity to obtain insurance. Health literacy was a product of individual factors and evolved over time as an individual navigated the system and identified strategies to successfully engage insurance companies. Emotional and knowledge support was provided by external forces throughout the process.
The domains obtaining, interacting, and accessing refer directly to the health insurance companies and interacting with payors. Obtaining insurance can be complicated by eligibility constraints and options within exchanges or employers. Interacting with the insurance company required time and complex documentation and was categorized by frustration in the redundancy of needed reauthorizations, incomplete information, and sub-par knowledge by the company representatives. Accessing describes the approved coverage of healthcare services an individual receives through health insurance. However, disputes may arise if services are denied or are too costly for patients. Additional financial assistance may be sought outside of the health insurance system, such as drug co-pay or personal fundraising programs. The result of this additional access or delays in care can have a positive or negative impact on the child’s health outcomes. These changes, either improvements, such as access to an orphan drug or a new diagnosis, or medical setbacks, such as an additional hospitalization, can result in eligibility changes or the approach a parent may take when interacting with the system.