This study presents the results of an international collaborative survey in which we participated. The survey focused on assessing the emotional well-being specifically of parents/caregivers of children born with EA, starting in the early post-natal period. An overwhelming majority of the parents/caregivers experienced an emotional time during their child’s initial diagnosis, with less than half reporting that they had contact with other affected families during this time. Nearly all participants believed that sharing stories within a support group setting would benefit others who were new to the experience, and three-quarters felt that sharing the experience would also benefit the sharer. Almost all participants agreed that EA-specific support groups are beneficial in the emotional journey associated with this disease.

Support groups serve as collective platforms with a focused mission at addressing specific challenges, extending mutual assistance, and facilitating the coping process with emotional hardships for individuals who share common challenges [11]. Within these groups, parents not only find disease-related resources, but also a network to receive and offer support, share achievements and setbacks, embrace their children’s conditions, and establish meaningful connections with those navigating similar emotional journeys [5]. Chronic illnesses, including congenital conditions like EA, have the potential to profoundly affect both patients and their families, leading to the emergence to emotional challenges that underscore the importance of timely intervention [12].

Previous research has emphasized the crucial role of psychological support for parents, beginning during the neonatal period and ideally provided by a multidisciplinary team [13]. Parents of neonates admitted to the NICU are exposed to various stressors [14]. Ganguly et al. identified the rapid delivery of information by staff as a significant stressor for parents in the NICU [15]. Similarly, factors such as the fear of communicating with healthcare professionals and concerns regarding access to information about their babies have been identified as added parental stressors, all of which have the potential to significantly affect parental mental health [14]. Other stressors that merit consideration are uncertainty surrounding the neonate’s diagnosis and surgical procedures, cultural practices, financial constraints, and a perceived lack of control [16]. Peer-to-peer support for parents of neonates in the NICU is indeed recognized as a valuable supplement to the services provided by the NICU staff [17]. This form of support offers a platform for sharing experiences without fear of judgment and contributes to reducing the stress and anxiety experienced by NICU parents, fostering a sense of empowerment [17]. The NICU Family Support (NFS) program in the United States exemplifies this approach by enhancing parents’ experience through educational initiatives, hosting of supportive activities, and the establishment of connections between families and NICU staff [18]. An extension of this program is the Family-Integrated Care (FiCare) module that has been introduced to further empower parents as partners in the care of their infant in the NICU [19]. This concept has three levels that includes supporting the parents, interventions delivered by the parents themselves, and parent-partnered neonatal care empowering parents to be part of the hospital care of their ill infant [19]. All these are important aspects relating to the emotional journey during the early neonatal period of parents of children born with rare diseases including EA. The results from our study suggest that there is a need to improve the overall post-natal care for EA families. The FiCare module has been proven to reduce stress and anxiety for parents with neonates in the NICU and can potentially aid EA parents to navigate being discharged from the NICU and assist them with the journey ahead [19].

Our result from this survey highlights several concerning issues related to how medical professionals treat the parents or caregivers of neonates born with EA. Our data suggests that their seems to be a global lack of family-centered care in the management of EA families during the neonatal period. Fifty-seven percent of neonates in our survey were transferred to specialist units, with only 44% of their mothers allowed to accompany them during the transfer. A mere 16% of parents could sleep next to their babies during the NICU admission. Additionally, the vast majority (69%) of the parents or caregivers in our study expressed a sense of missed bonding opportunities with their newborns due to the inability to hold or interact with them during those first few days after birth. The physical closeness is just as important as emotional closeness and crucial to the holistic well-being of both the babies and the parents [20]. Our survey indicates that there is room for improvement in how healthcare professionals involve parents in the care of their newborns. We furthermore recommend prioritizing early bonding experiences for these parents in order to improve their emotional well-being.

In 2013, a study was conducted investigating the role of support groups in children born with anorectal anomalies [8]. They found that the majority of these groups were established by families, and around 80% of them had affiliations with healthcare professionals [8]. This factor alone highlights the possibility to incorporate these groups as part of the holistic approach of complex congenital diseases such as EA.

Another important aspect highlighted by our survey is the limited access that siblings have to their new brother or sister, with only 21% of cases reporting that siblings visited the NICU. Family-centered practices should extend beyond parents to include siblings. In 1983, a study conducted by Schwab et al. found that sibling visits to the NICU have the potential to be beneficial to both the siblings and the families [21]. The arrival of a new baby has been shown, despite its joy, to be a source of stress for older siblings, and this stress can be exacerbated by the infant’s admission to the NICU [22]. Allowing siblings to visit can contribute to a less challenging experience for both the parents and older siblings and has the potential to create a more supportive and nurturing environment for the entire family [22].

The establishment of the first EA support group in Germany in 1984 marked a pivotal moment, leading to the emergence of various other groups worldwide [6]. Schier et al.’s work in 2001 underscores the impact of support groups on mitigating the clinical and emotional long-term consequences of EA [6]. The authors highlighted that such support groups offer patients valuable disease-specific information, alleviating the isolation commonly associated with rare conditions like EA [6]. Notably, the German group played a foundational role in the inception of EAT, an overarching organization uniting multiple EA support groups globally. EAT’s mission resolves around fostering exchanges of experiences and knowledge among patients and healthcare professional and elevating global awareness of EA [23].

The establishment of disease-specific support groups for EA has been pivotal, furnishing crucial information and support, and particularly support that bridges the isolation so often linked to this rare condition. Our study’s participants concurred, recognizing the pivotal role such support groups play in bolstering their emotional well-being. Overall, our findings accentuate the potential benefits of EA-specific support groups in enhancing the emotional health of both patients and their families confronted with this uncommon condition. Healthcare professionals should aim to connect parents of children born with EA with other parents or support groups early during the peri-natal period. This can be achieved by incorporating any of the mentioned strategies in their multidisciplinary approach to treatment of EA families.

Nevertheless, it is essential to acknowledge the study’s constraint of focusing solely on existing group members when interpreting the findings. We do acknowledge that distribution of an English-lonely survey might lead to potential bias and needs to be addressed in future research. An additional noteworthy constraint is the exclusive reliance on an online survey, thereby restricting accessibility and participation solely to individuals with the requisite technological facilities, potentially constraining the participant pool. We also accept that by not identifying specific triggers or events leading to PTSD in parents diagnosed with this disease, as another limitation to this study that should be explored in future research.