Rare diseases are defined as those that affect one in 2000 people (European Commission); however, as a group, they are relatively common [1]. The UK Rare Diseases Framework states that 1 in 17 people in the United Kingdom are affected and that around 80% of these rare diseases are genetic, caused by a mutation within the DNA [2]. These mutations lead to altered function of proteins in the body, often resulting in widespread and multisystem impacts, such as developmental delay, congenital malformations, disorders of metabolism, and many more [3]. Most people are affected from childhood (75% of rare diseases) with a chronic, lifelong course, sometimes resulting in early death [2].

On top of the challenges of caring for a child with any health condition, parents and caregivers of children with rare genetic diseases face additional hurdles. The low prevalence of these conditions means there is often a lack of knowledge and scarcity of expertise among health care professionals [4,5]. Diagnosis can often be delayed or uncertain, and health care professionals cannot always meet the information needs of parents, particularly when diseases are newly described [6]. Potential support groups are geographically dispersed and very small, with limited resources available [7]. Parents need to find ways to gain knowledge of their child’s condition and develop caregiving skills to meet the specific needs of their child.

The advent of social media has revolutionized the way individuals seek and share information, particularly in health care contexts [8]. Parents use social media platforms, such as Facebook (Meta Platforms, Inc), Instagram (Meta Platforms, Inc), and YouTube (Google LLC) as a key resource for their children’s health information. The convenience of meeting and discussing health questions and issues with like-minded parents has made social media a central place for contemporary parenting [9].

Traditionally, health care providers were one of the few sources of health information. Now, parents can actively seek out alternative information via social media, which has an impact on their relationship with health care professionals [10].

Studies looking at the impact of social media on the relationship between patients and health care providers have shown that social media empowers patients to be more informed and involved in their own care, allowing for improved communication with medical professionals [11,12]. Health promotion on social media also encouraged patients to seek medical attention more willingly [11]. Most patients discuss information they have found online with their health care provider; however, physicians often react negatively to discussions involving information sourced from social media [11-13]. Social media use is also related to shorter relationships with health care providers, as online discussions prompted patients to seek specific providers [11].

Many parents may never physically meet other parents caring for a child with the same or similar genetic condition [5]. In this context, online support networks offer unique benefits. Connecting with people outside the family who share similar medical experiences or symptoms can provide emotional support and practical advice, which are often invaluable for families navigating the complexities of rare diseases [14]. Parents have even reported that online connections with other families provide more practical, specific, and applicable information than that from health care providers [15,16]. Studies also suggest that the use of genetic condition–specific Facebook groups and social media is more widespread than previously characterized [15].

Social media provides a more accessible platform for information sharing than other rare disease forums. In-person support groups are often challenging due to geographical dispersion and time constraints, which are especially relevant in rare disease communities [17]. Online support groups also provide a level of anonymity and reduced stigma that make it more likely for people to share personal information [17]. Other online communities, such as blogs or forums, may be more difficult to locate and engage with than social media groups. As the majority of people already use social media in their daily lives, they may find these sites easier to navigate.

A majority of rare diseases present during childhood, and therefore parents and caregivers are often the ones involved at the start of the journey, through the diagnostic process, and initial understanding of the condition [2]. Parents are required to take on a more practical care role, which presents a specific set of challenges and questions. Anecdotally, we see that parents are increasingly reporting participation in social media groups specific to their child’s rare condition. However, there is a lack of data regarding how parents interact with these groups, the content of the data shared in the groups, the impact of participation on the families, and the impact on parent-doctor interactions and relationships. This data could better inform professionals and researchers on the attitudes and dynamics of parental social media use and allow the development of ways to use social media to distribute educational resources around diagnostics, symptoms, equipment, and care needs.

Studies specifically exploring parents’ experiences with social media support groups within a rare disease context are scarce [16]. To our knowledge, there is no existing literature review that synthesizes the current evidence on this topic.

We focused on parents as a study cohort because they take on a different role than patients, with a specific set of informational needs. The needs of a parent are likely to differ from an adult patient who may have lived with their condition for many years.

Understanding how parents use social media and the type of information that they are seeking provides an insight into gaps in the current provision by health care professionals and services. We know that social media can be a useful tool for information sharing and social support networks [13]. By examining where parents’ informational and support needs are, this review can guide future development of ways to use social media to distribute educational resources around diagnostics, symptoms, equipment, and care needs. We can begin to explore whether clinician promotion of, or involvement in, these online landscapes could be beneficial, and how online groups might be used to expand our datasets and scope of future research in rare diseases. This review aims to map the existing evidence of how parents and other caregivers use social media. It explores the prevalence, dynamics, and potential outcomes of social media use among parents and caregivers of children diagnosed with a rare genetic syndrome.

A precursory literature review informed discussions between a clinical geneticist, a psychology researcher, and a clinician researcher with experience in digital health care. These discussions, considering key areas of importance, along with patient and public input (parents of children with genetic disorders and a member of a charity), led to the development of the research questions. No protocol exists for this study, as it is a scoping review. The PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) used for structure can be found in Multimedia Appendix 1. The research questions are as follows:

Studies were included or excluded based on the criteria listed in Textbox 1.

We searched Web of Science, PubMed, and PsycINFO databases to identify relevant literature that focused on social media use by parents and caregivers of patients with rare genetic diseases (<1 in 2000 as per the European Commission) [1]. The authors looked for additional articles by scanning the reference lists of included articles.

Given the limited research on this topic, we aimed to maximize the sensitivity of the search strategy by using keyword searching. Search terms were under 3 key domains: parent, caregiver, and family; genetic disease, rare disorder, and undiagnosed condition; and social media, internet use, and social networking. Synonyms across all 3 domains, including names of known rare genetic syndromes and key social media sites, were incorporated to create an initial search strategy.

The search was first applied to the Web of Science database in April 2024 to inform an earlier iteration of this work. We then repeated the search on December 30, 2024, across PubMed, Web of Science, and PsycINFO databases. An additional wider search term of “genetic neurodevelopmental disorder” was also added (after discussion) to improve the scope of the search. The search syntax entered into the Web of Science database is as follows:

(TS=(parent* OR mother* OR father* OR caregiver* OR caretaker* OR family OR families)) AND (TS=(“genetic disease*” OR “genetic disorder*” OR Rare NEAR/3 (disorder* OR disease* OR syndrome*) OR “Marfan Syndrome” OR “Prader-Willi Syndrome” OR “Angelman Syndrome” OR “Ehlers-Danlos Syndrome” OR “Williams Syndrome” OR “undiagnosed condition” OR “clinical genetic testing” OR “special health care needs” OR “CSHCN” OR “genetic neurodevelopmental disorder*”)) AND (TS=(“social media” OR ((Twitter OR Facebook OR YouTube OR LinkedIn) AND “support group*”) OR “social networking” OR Twitter OR Facebook OR Instagram OR YouTube OR LinkedIn OR “internet use” OR “internet usage” OR “online social support”))

The full search strategy can be found in Multimedia Appendix 2.

After removing duplicates, database searches identified 159 references to which the eligibility criteria were applied during a title sift, followed by an abstract sift. This approach was taken as the criteria were specific enough to exclude many studies by the title alone. The title sift was undertaken by 2 authors, and studies were grouped into “include,” “exclude,” or “uncertain.” Studies coded as “include” or “uncertain” were then reviewed in the abstract sifts. The most common reasons for exclusion at the abstract sift were a population group other than parents or caregivers, and no specific focus on social media use.

Two authors independently completed searches and subsequent study selection processes, with CD only reviewing the results of the LB’s earlier search after completing their study selection.

Around 11 articles [14-16,18-25] were identified, 10 [14-16,18-21,23-25] of which had been included by both authors after the title and abstract sift, and 1 article [22], which was excluded by LB in the initial search but included by CD. This was resolved through discussion and was subsequently agreed upon for inclusion.

A review of the reference lists of included articles by both authors identified 1 additional article [26], leading to a total of 12 included articles [14-16,18-26]. The data were charted for the included studies under headings of study objectives, methodology, and key findings. The data were extracted by 2 authors and then combined into a spreadsheet.

Consent to participate and ethical approval were not required for this review as no human participants were involved.

Figure 1 shows a PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) diagram to illustrate the study selection process. Completing 2 independent searches and study screening processes by independent authors with the same outcomes ensures low risk of bias in the study selection and demonstrates reproducibility.

A list of the 12 included studies [14-16,18-26] can be found in Table 1. The Mixed Methods Appraisal Tool was used to complete a bias assessment of included studies [27].

All studies included clear aims and objectives, and study designs were appropriate to answer these. Where mixed methods were used, the rationale was clear. Participant numbers ranged from 14 to 516 respondents. It was noted that demographic data often showed a higher proportion of college-educated and married parents, which may indicate an element of nonresponse bias, with those with higher electronic literacy being more able to engage in the studies. All studies appropriately used either thematic analysis or descriptive statistics to analyze their results.

Most studies used qualitative or mixed methods research methodology, and 9 studies [14-16,18,19,22-24,26] collected data using surveys or semistructured interviews to gain an understanding of parental views, mostly advertised through rare disease organizations. Around 5 [14-16,24,26] study cohorts were based in the United States, 1 [22] in Canada, and 2 [19,23] in Europe. Altogether, 4 studies [18,20,21,25] (2 US-based [21,25] and 2 Germany-based [18,20]) collected data using Facebook searches or groups that could include members across multiple countries. Advertisements on Facebook or other social media sites also increased the risk of sampling bias, as participants were more likely to already positively engage with social media. Figure 2 shows the distribution of publication years of included studies.

One study was identified as being at higher risk of bias, as there was no clear explanation for how the recruitment platforms were selected [18]. Recruitment via Facebook groups also introduced a high risk of sampling bias, as participants who engaged may be less likely to have concerns regarding limitations and privacy of the groups, which was a key research question. Table 1 summarizes the characteristics and findings of all included studies.

Engagement

Most studies found that between 80% and 100% of parents are engaging in online support groups [14,16,19,20]. Facebook was the most commonly used platform and was found to have the largest proportion of support groups compared to other sites [14,16,21]. A significant reason for Facebook’s popularity was the group function, allowing communities to create online spaces to discuss and share information [19,22]. This feature is lacking on other social media platforms. One study found that at least 1 Facebook support group was identified for 19.5% of known rare genetic diseases, with 6398 groups identified in total, representing 826 diseases [20].

Overview

Studies show that parents are primarily seeking medical information, practical advice, and community support [20,25].

This review revealed that a majority of parents and caregivers are using social media and primarily through group functions, especially on Facebook. Within these groups, they are both seeking and sharing information about their child’s rare genetic condition. We identified 3 main themes regarding the content of the information sought and shared: (1) medical information around diagnosis, treatments, and providers; (2) emotional support and connections with other families; and (3) practical tips, such as specialist equipment. Positive outcomes of engagement in social media include easier and faster access to information and building social support networks. However, some negative outcomes were also recognized, such as concerns around privacy, emotional impacts of comparison, and lack of online spaces for the rarest conditions.

Overview

The prevalence of social media use by parents and caregivers shown in this review is indicative of the increasing use of these platforms both in society and in health care. The rising number of social media support groups highlights a growing reliance on digital platforms for information sharing and emotional support, especially in communities where geographical dispersal and intense care needs of the child present barriers to in-person parental meetings or training [28]. Online platforms allow parents almost immediate access to information or support at any time of the day or night, and no matter their location.

For parents and caregivers, this review highlights the benefits of engagement in the online community as a source of information that can be used alongside medical advice, as well as a space to gain social and emotional support from other parents and caregivers. They must be wary of the potential for misinformation and the negative emotional impact that sharing and consuming the experiences of others can have. Parents should be encouraged, signposted, and empowered to seek out information and understanding of their child’s condition.

The findings highlight a missed opportunity for health care providers to engage in social media communities in order to provide reliable information and appropriate resources. Health care providers’ involvement would mitigate the risk of misinformation. There are mixed opinions on whether physician involvement in these groups would be welcomed by parents and caregivers, although 2 studies [18,21] highlight that parents would like health care professionals as members. For physicians and some health care providers, professional organization policies explicitly discourage professionals from engaging in social media for health care advice delivery to members of the public [39]. Updating such guidance could enable health care professionals to feel confident in promoting research-backed information sharing on social media.

Health care professionals may be able to improve their own online communication with disease experts and research communities to improve provider education on rare genetic diseases, which in turn allows them to improve the care they provide to patients and caregivers. At least, health care providers should consider discussing social media use with patients and caregivers at consultations to allow a space for information clarification, directing them to reputable resources and communities. By accessing reliable educational resources, patients and caregivers can improve their understanding, allowing for more informed engagement in their own or their child’s care.

Social media designers should consider the use of group functions on their sites and whether, with the increasing prevalence of online support networks, group features should be introduced on a wider range of platforms. Also, rare disease advocacy groups and organizations should ensure that they are using social media groups as a platform for their own online discussion networks and advocacy campaigns. For the rarest genetic diseases, where it can be difficult for parents to find others with similar experiences, disease organization social media networks could support links between families across the globe who are affected by the same rare genetic conditions.

This review included a comprehensive literature search across several relevant databases. Completing independent searches by 2 separate authors reduced the chance of bias and created a more replicable set of results. We identified clear and specific research questions that could be appropriately answered by the included studies, with consideration for risk of bias.

A substantial proportion of the qualitative studies included in this review had relatively limited sample sizes, often involving 15-20 participants. This small sample size, largely due to the rarity of diseases, might introduce bias and could limit the generalizability of findings. Many studies recruited participants through social media, which might introduce selection bias, as participants are those already engaged in online communities. Additionally, some studies are based on data from the early 2010s, when internet access and social media use were less prevalent [21,23,26]. Furthermore, most studies are conducted in English, focusing on English-speaking populations and potentially excluding significant portions of the global community. Despite this, however, most online support groups are international and are therefore likely to be representative of a widespread international population.

Moreover, most studies offer only a snapshot of social media use at a single time point, with no longitudinal data to consider the changes in experience over time as children age and parents gain understanding of their child’s condition. While many of the studies included in this review report perceived benefits to parental understanding and emotional well-being, this is often not measured using standardized variables. Considering the methodological process, the search terms could also have been expanded to include a broader list of rare genetic disease names, potentially capturing a more diverse set of insights, including ultrarare diseases.

We have identified that many parents use social media as a key source of information gathering and education; however, the quality of medical information on these platforms has not been explored. Future research could consider the impact of medical information and misinformation shared on social media on decision-making and child health outcomes. Studies could also look at interventions to improve parental digital literacy and the ability to critically evaluate online information. This could inform the development of caregiver education programs.

Investigating how health care professionals’ engagement and contributions to these platforms impact the quality of information, parental satisfaction, and health outcomes for children would also help develop an understanding of information dissemination strategies in the future. We know that many parents are using social media, and often as a source of emotional and social support; however, the long-term effects of this are little understood. Longitudinal studies considering the sustained benefits and risks associated with prolonged engagement in these communities are also needed. These would also be beneficial given the rapidly changing landscape of social media platforms and groups.

In considering future research limitations, one major obstacle is the difficulty of performing research within social media groups, when companies such as Meta do not allow access for researchers. Many groups, as discussed earlier, are closed for privacy concerns, making it difficult to access without aid from the group itself. Gaining consent to use data from online posts would be ethically difficult to obtain for longitudinal use, which is a concern given the ease of searching and accessing posts. Consent and reconsent issues would also apply to children who turn 16 years old. In the United Kingdom, for example, current National Health Service (NHS) policy also often restricts health care providers from using social media in order to protect patient confidentiality and maintain a clear boundary between personal and professional for healthcare providers.

This literature review has synthesized available research on the use of social media by parents of children with rare genetic diseases. The widespread use of social media is evident, especially Facebook groups, in parental information seeking, experience sharing, practical tips, and emotional support. While these are valuable platforms, risks around misinformation and unnecessary anxiety can occur. Health care providers should consider how engagement in these online communities, either directly or in conversations with parents and caregivers, can support understanding and empowerment with the hope of improved patient care.

Future research should focus on larger, more diverse studies to explore the impacts of social media-sourced information, as well as longitudinal studies to consider the long-term patterns and implications of social media engagement. Social media is an increasingly accessed source of information for parents and caregivers of children with rare genetic diseases. By addressing challenges and leveraging the potential of these platforms, support systems, and outcomes for these families can be improved.