The Participants
A total of fourteen respondents participated in a phone interview. Nine interview participants reported a diagnosis of FH and five participants were the partners of a patient with FH. While we did not ask the participants about their educational or professional backgrounds, six participants independently reported having an educational and/or professional background in health-related fields (i.e. nurse, science teacher, health major). One participant reported their child was diagnosed with homozygous FH while the remaining participants reported their children were diagnosed with heterozygous FH. The median age of the first child to be diagnosed with FH among the families was six years old (ranging from two-nine years old). Five participants reported their children underwent genetic testing. All participants reported a family history of FH or FH related symptoms. The majority of the participants identified as “White”, while the racial and ethnic backgrounds of their children were more diverse than the participants (Table 1).
Table 1
Participant Characteristics
Characteristics (N = 14) | n |
Ages (years) |
30–34 | 2 |
35–39 | 7 |
40–44 | 2 |
45–50 | 2 |
50+ | 1 |
Education level |
High school degree or equivalent (e.g. GED) | 1 |
Some college, no degree | 2 |
Bachelor's degree (e.g. BA, BS) | 5 |
Master's degree (e.g. MA, MS, MEd) | 3 |
Doctorate degree (e.g. MD, PhD) | 3 |
Participant’s relationship to child(ren) with FH |
Biological Mother | 11 |
Biological Father | 3 |
Family history |
Participant diagnosed with FH | 9 |
Partner of a patient diagnosed with FH | 5 |
Number of biological children |
One child, with FH | 3 |
Two children, one with FH | 6 |
Two children, both with FH | 2 |
Three children, one with FH | 1 |
Three children, two with FH | 1 |
Four children, two with FH | 1 |
Racial and/or ethnic background |
White | 11 |
Asian: | |
Pakistani | 1 |
Filipino | 1 |
Multi-racial or multi-ethnic: | |
Pakistani & White | 1 |
Racial and/or ethnic background of children of participants |
White | | 8 |
Asian | | |
Pakistani | 1 |
Multi-racial or multi-ethnic: | |
Pakistani & White | 1 |
Filipino & White | 1 |
Korean & White | 1 |
Black/African American & White | 2 |
(INSERT Table 1 HERE)
Themes
Three main themes were identified: 1) role of family history in facilitating child’s FH diagnosis, 2) barriers and challenges in post-diagnosis care, 3) attitudes towards universal lipid screening in children.
Theme 1: Role of family history in facilitating child’s FH diagnosis
Family history played a multifaceted role in facilitating lipid screening in children. A majority of the parents (12/14) shared that having a family history of FH or FH-related symptoms prompted them to request screening for their children from their pediatric providers. Participants also highlighted that their family history provided them with the knowledge to navigate the healthcare system to obtain the appropriate screening for their children, especially in situations where providers were not readily aware of the screening guidelines or FH as a condition.
Family History as a Driver for Screening
All participants reported a family history of high cholesterol, premature CVDs and/or a FH diagnosis. One participant was motivated to inquire about screening due to their partner’s premature heart attacks. Eleven participants acknowledged their decision to have their children screened for FH was driven by their awareness and knowledge of FH as a condition and the perceived importance of early treatment for FH. Further, some participants described wanting to disrupt the generational pattern of CVDs as a key motivator to seeking out a diagnosis in their children. For example:
P12 (Mother, White, Master’s degree)
It's good to know just because it affects his future. I know that I can get him on medication the earliest possible and make sure that he doesn't follow the same course that my father followed, that I might potentially follow. You know what I mean? Every generation seems to be a little bit healthier as they get older.
However, a significant family history of premature CVDs or a FH diagnosis did not always result in a seamless process for lipid screening in children. Four participants recalled feeling brushed off or not believed by their pediatric providers when requesting screening for their children due to the provider's lack of knowledge of FH. For example:
P3 (Mother, Filipino, Doctorate degree)
Even when he was an infant, I would ask the pediatrician, “oh my husband... he had these heart attacks, is there anything we should be concerned about with the kids?” Because I’m just worried, I think we should address these issues. And everybody kind of just pooh-poohed me.
Lack of Provider Awareness and Knowledge
The lack of provider awareness and knowledge of FH was a common theme that emerged from the participants' accounts of obtaining lipid screening for their children. Only two participants reported that routine lipid screening for children was offered by their pediatric providers.
Half of the participants described their pediatric providers being amenable to screening after learning about their family histories. A majority of the participants also communicated that family history was a critical tool in prompting their pediatric providers to order screening. For example, three participants reported their personal diagnosis of FH facilitated screening in their children by having the knowledge to educate their pediatric providers.
P5 (Mother, White, Bachelor’s degree)
I asked his pediatrician and I said "can you order me a lipid panel." And they were like "why," so I explained it to him…I just said I have a genetic condition and I really want it done and so we did.… I always constantly feel like I'm educating medical people on the condition.
Theme 2: Barriers & challenges in post-diagnosis dare
Several barriers and challenges emerged from the parental accounts regarding navigating and obtaining post-diagnosis treatment for pediatric FH. Participants reported a lack of direction after diagnosis and concerns regarding medication in children. Similar to their pre-diagnosis experience, participants continued to describe being proactive in seeking out specialized care for their children.
Barriers to Specialists
One barrier was the lack of a clear path to specialized care after diagnosis. Some participants recalled having to independently research and obtain specialized care for their children due to: 1) perceived limitation of non-lipid specialists’ ability to treat pediatric FH, and/or 2) a lack of referral from their pediatric provider after diagnosis. For example:
P9 (Mother, White, Bachelor’s degree)
so I didn't really get a recommendation as far as like a specialist that I need to take him to…there wasn't really an action plan after we got a diagnosis … so I just had to kind of figure it out on my own.
Another barrier was the lack of specialists in their area or under their insurance plan:
P7 (Father, White, High school degree or equivalent)
But the specialist, the FH specialists are few and far between in my area… that's very concerning as a parent of a child with FH. I don't want to have to be her specialist. I'm her biggest supporter, her biggest advocate but I can't write the prescriptions.
P2 (Mother, Pakistani, Master’s degree)
knowing that their cholesterol is so high and not doing anything about it doesn’t make me feel great. So we are switching some insurances around and going to try to go to a lipid specialist clinic and ask them to just get a second opinion rather than just wait. I don’t just want to risk it because one doctor said it’s just a number.
These participants perceived the access to a specialist or a second opinion to be a pivotal part in the treatment and management of FH in their children.
Uncertainty about Medications for children
Participants raised varying concerns about medication in children including: 1) side effects of medication in children, 2) timing of starting medication, 3) a perceived lack of clear management guidelines or a lack of research on the effect of different medications in children. These concerns led some participants to seek out additional medical advice for earlier treatment or question the current recommendation: For example:
P6 (Mother, White, some college, no degree)
I mean he probably could stand to have a lower cholesterol and the ability to try some of the other drugs that are out there that are not approved yet. There's not a lot of research studies for his age group (age 12) on those medications because those kids seem like they're not sick enough, they're healthy, why would you want to give him this medication? They don't have any plaque, it's like it's a weird gray area for treating them.
One participant further highlighted the need for a multidisciplinary team of specialists who are keeping up with the evolving treatment guidelines to provide updated care for children:
P11 (Father, White, Doctorate degree)
I think the model’s got to change. There’s got to be more comprehensive kind of lipidologist, cardiologist knowing when to start the statins, when to change them, when to use the newer agents, this is all rapidly progressing.
Theme 3: Attitudes towards universal lipid screening (ULS) in children
Parental attitudes towards ULS in children was another key theme in the participants’ accounts. All participants were in favor of ULS in children and agreed that a childhood diagnosis of FH can lead to early treatment and prevention of premature CVD. Many participants voiced the importance of early lipid screening and having the knowledge to make decisions for their children’s care. Other parents referred to their negative experiences in seeking out an FH evaluation or prolonged undiagnosed FH in the family as reasons in wanting increased public awareness of FH.
There was unanimous support for ULS in children from the participants. One perceived benefit of screening was having the knowledge and awareness to manage FH:
P10 (Father, White, Master’s degree)
I'm very in favor of lipid screening being a part of the normal doctor's visits. You can't, you can't adequately manage something you don't know about so hoping it is not a very good management strategy… testing doesn't mean you have to do anything but the testing gives you the knowledge so you can do something.
Other participants reported their perceived value of ULS stemmed from their own negative experience in seeking out lipid screening for their children or with undiagnosed FH in the family. For example:
P3 (Mother, Filipino, Doctorate degree)
the only reason we got a diagnosis is because I went all crazy and hounded all the doctors and that, I feel like if I hadn’t done that then we wouldn’t have been diagnosed, probably not even yet… so what I think is that it should really be more something that they screen for in pediatrics because through pediatrics you will find adult cases of it, like my husband. I think it’s just important, I don’t think people should die young.
Many participants described the importance of increasing knowledge and awareness of FH in the general public to help parents make decisions regarding their child’s care. Two participants further described the value of ULS in offering equal opportunity to screening for children with or without a known family history of FH related symptoms:
P7 (Father, White, High school degree or equivalent): …Early detection is really the only way to get on top of it and keep or prevent the children from being a cardiac patient…like my father, like me, and so many others, everybody shares the same story of losing a family member…It's heartbreaking the amount of people that don't know [their family history], it's just wrong to me. It's an injustice to the kids that grow up and people like me that you're having to do the research on your own.
A case of reverse cascade screening was described by one participant. For P4, her son’s elevated LDL level triggered an evaluation for her husband, who was found to have FH. This was the only account where routine lipid screening in children identified an undiagnosed FH in the family:
P4 (Mother, Pakistani & White, Doctorate degree)
But my son is the person who got an official FH diagnosis 'cause my husband didn't know his high cholesterol until he was in his 30s…[the pediatrician] just routinely screened for cholesterol at his annual appointment.
At the time of the interview, ten participants expressed awareness of the recommended lipid screening in children. Of these ten, eight participants became aware of the recommendation from independent research or their backgrounds in healthcare. Two participants were informed by their pediatric providers regarding pediatric lipid screening recommendation.