Experiences and Information Needs of Families of Children With Organic Acid or Fatty Acid Metabolism Disorders in Japan

ABSTRACT

Families of children with inherited metabolic disorders face a variety of medical, developmental, educational, and psychosocial challenges. However, little is known about how these families manage such issues within the Japanese healthcare and social support systems. This study explored the experiences and information needs of families of children with organic acid and fatty acid metabolism disorders. A cross‐sectional questionnaire survey was conducted in Japan in June 2022 among 183 families of children with organic acid and fatty acid metabolism disorders recruited through a patient organization. Thirty‐eight families responded to the survey. The questionnaire addressed the medical history, developmental concerns, support services, education, and psychosocial experiences. Most children (95%) were diagnosed within the first year of life. Two‐thirds of the parents (66%) reported developmental concerns involving behavior, learning, or emotional regulation. Although many children attended regular schools, some required special needs education, and parents reported difficulties related to dietary management and school admission. Qualitative analysis of open‐ended responses identified 10 categories describing parental experiences, including gratitude toward healthcare professionals, the need for information and support systems, and reflections on living with a chronic condition. Families of children with organic acid and fatty acid metabolism disorders face complex medical, educational, and psychosocial challenges. These findings highlight the importance of coordinated information sharing, multidisciplinary collaboration, and family‐centered support to improve the quality of life of both children and their families.

What Is Known About This Topic

Organic acid and fatty acid metabolism disorders are rare inherited metabolic conditions that require lifelong medical and dietary management. Families of children with organic acid and fatty acid metabolism disorders experience significant psychosocial challenges related to diagnosis, development, education, and daily disease management. Previous studies have highlighted parental stress following newborn screening and the importance of early diagnosis; however, detailed descriptions of families' lived experiences remain limited, especially in Japan.

What This Paper Adds to the Topic

This study provides comprehensive insights into the medical, developmental, educational, and psychosocial experiences of families raising children with organic acid and fatty acid metabolism disorders in Japan. Parents reported ongoing concerns not only about physical and cognitive development, but also about behavioral, emotional, and sensory aspects, even after early diagnosis. The findings highlight the importance of longitudinal psychosocial support, school‐related liaison, and coordination of medical and social resources for families of children with these disorders.

Plain Language Summary

Raising a child with an organic acid or fatty acid metabolism disorder can affect many parts of family life. Japanese parents in this study shared concerns about development, education, and everyday care, as well as the need for information and support. These findings may help improve support for children with these disorders and their families.

1. Introduction

Pediatric rare diseases are often chronic and complex conditions and may be associated with developmental delays and/or intellectual disabilities. With limited knowledge and insufficient information regarding rare diseases, parents are often left to manage unmet social needs and navigate fragmented healthcare systems (Pelentsov et al. 2016). Parents may also experience psychological stress, including anxiety, confusion, and feelings of being overwhelmed (Picci et al. 2015). In the midst of such confusion, families seek medical information, guidance regarding their children's development, and insights from other families living with similar condition.

Organic acid and fatty acid metabolism disorders, a group of inborn errors of metabolism (IEMs), represent a category of rare inherited metabolic conditions. More than 25 disorders are associated with organic compounds and fatty acid metabolism. Each of these diseases is individually rare, with an estimated prevalence ranging from approximately 1 in 10,000 to one in several hundred thousand individuals (Shibata et al. 2018). Infants with organic acid and fatty acid metabolism disorders are often asymptomatic at birth, although symptoms may develop within hours, weeks, or even later in life depending on disease severity (Shibata et al. 2018).

Recently, many organic acid and fatty acid metabolism disorders have been identified shortly after birth through newborn screening (NBS). In Japan, nationwide newborn screening was introduced in 1977, and expanded newborn screening using tandem mass spectrometry was implemented nationwide in 2014, enabling the detection of many organic acid and fatty acid metabolism disorders shortly after birth (Shibata et al. 2018). However, some disorders are not included in NBS program and may be diagnosed later based on clinical manifestations and biochemical findings (Shibata et al. 2018). Although early diagnosis and treatment have improved clinical outcomes, long‐term management remains necessary. In particular, dietary therapy often represents a lifelong requirement and poses substantial practical and psychosocial challenges for patients and their families (Yamaguchi et al. 2016; von der Lippe et al. 2017).

In principle, the treatment is different for each organic acid and fatty acid metabolism disorders, but can be broadly divided into acute treatment and routine health management. Acute treatment includes symptomatic treatment of the symptoms and metabolic correction. Routine management includes diet and drug therapy. In particular, dietary therapy is a lifelong requirement and a major challenge for patients and their families.

A recent systematic review by Sherlock et al. (2025) highlighted that young people with metabolic disorders and their families face multiple physical, psychological, and social challenges including social isolation, caregiving burden, and learning or emotional difficulties. Although these challenges have been reported internationally, little is known about how families in Japan experience and manage these issues in their daily lives and within the Japanese healthcare and social support systems. Therefore, collecting and understanding the lived experiences and psychosocial issues of families of children with these disorders is important to provide appropriate support and care in the Japanese context. Therefore, this study aimed to investigate the lived experiences and information needs of families and children with organic acid and fatty acid metabolism disorders in Japan using a cross‐sectional questionnaire. We examined aspects such as diagnostic experience, child development, support services, education, social service utilization, and psychosocial concerns in daily life to identify appropriate information, psychosocial support for families and children with organic acid and fatty acid metabolism disorders.

2. Methods

2.1. Study Design and Data Collection

We conducted a cross‐sectional study using an original questionnaire survey between June and July 2022. The survey was anonymous and distributed via an online survey system (Google Forms). A representative of the relevant family association emailed an invitation to each participant. The email included a participation request form containing a URL and QR code linked to the study information and questionnaire form.

2.2. Questionnaire

Because little information is available regarding the experiences of Japanese families of children with organic acid or fatty acid metabolism disorders, an original questionnaire was developed for this study. The questionnaire was informed by educational materials and support resources developed by Japanese rare disease family organizations, relevant literature on rare diseases and inherited metabolic disorders, and issues commonly raised by families during clinical genetic counseling and psychosocial support for rare diseases. Draft items were reviewed and refined through repeated discussions among the research team and a representative of the patient organization to ensure their relevance and comprehensibility. The questionnaire was originally developed in Japanese and was not translated from an existing instrument. A formal pilot test was not conducted prior to survey administration.

The questionnaire included items on demographics, diagnostic experiences, child development, rehabilitation and support services, educational experiences, and psychosocial issues encountered in daily life. Both multiple‐choice and open‐ended questions were included. The details of the questionnaire are provided in Appendix S1.

2.3. Participants

Participants were recruited through HIDAMARITANPOPO—Patient and Family Association for Organic Acidemias and Fatty Acid Oxidation Disorders (http://hidamari‐tanpopo.jp), a Japanese patient and family organization. The organization was established in 2005 by families of children with propionic acidemia and methylmalonic acidemia and later expanded its scope to include a broader range of organic acid and fatty acid metabolism disorders. Membership is open nationwide and communication is primarily conducted through internet‐based networks. Although the organization primarily supports families affected by organic acidemias and fatty acid oxidation disorders, a small number of families affected by other inherited metabolic disorders are also registered as members.

At the time of the survey, the organization included 183 registered families across Japan. Because this was an exploratory survey of a rare disease population, no formal sample size calculation was performed. Instead, all eligible member families registered with the organization were invited to participate. An invitation email containing study information and a link to the questionnaire was distributed by the organization representative to all registered member families. A reminder email was sent 1 week before the survey deadline.

Separate questionnaires were prepared for parents/guardians and affected individuals who were able to complete the questionnaire independently. Although both groups were invited to participate, the present study reports only responses provided by parents and guardians. The target population for this analysis comprised parents or guardians of children diagnosed with organic acid or fatty acid metabolism disorders. One response was requested from each family.

2.4. Data Analysis

Descriptive statistics were used to analyze multiple‐choice questions. Frequencies, percentages, and mean values were calculated using Microsoft Excel. Responses to the open‐ended questions were analyzed in the original Japanese using inductive qualitative content analysis following the approach described by Elo and Kyngäs (2008). The first author (M.K.), a certified genetic counselor with clinical experience supporting children with rare diseases and their families, conducted the primary analysis. M.K. repeatedly read all open‐ended responses to gain an overall understanding of the data. Meaningful units related to participants' experiences, concerns, and support needs were identified and assigned codes. Similar codes were grouped into broader categories according to shared content and meaning. Categories were developed inductively from the data rather than based on a predetermined framework. The resulting categories and representative quotations were reviewed and discussed with the co‐authors to enhance the credibility of the analysis. After completion of the qualitative analysis, representative quotations selected for inclusion in the manuscript were translated into English by the first author. The translations were reviewed by the senior author and subsequently underwent professional English‐language editing. Back‐translation was not performed.

3. Results

3.1. Characteristics of Respondents and Children

Of the 183 families invited to participate, 38 responded, yielding a response rate of 20.8%. The respondents comprised 34 mothers and 4 fathers. The average ages of respondents and children were 41 and 8 years, respectively, at the time of participation. Approximately half of the children were male. Twenty‐five (66%) children had organic acid metabolism disorders, 11 (29%) had fatty acid metabolism disorders, and two (5%) had amino acid metabolism disorders. Information on the respondents and their children is summarized in Table 1.

TABLE 1.

Characteristics of respondents and children with disorders.

Characteristic
I. Respondents
Gender of respondents (n = 38)
Female: 34
Male: 4
Age, years (average)
37–64 (41)
II. Children with a disorder
Gender of children with a disorder (n = 38)
Female: 20
Male: 18
Age, years a (average)
0–24 (8)
Total number of each diagnosed disorders (n = 38) b
Organic acid: 25
Fatty acid: 11
Amnio acid: 2
Diagnosis made (n = 38)
< 1 year (month unknown): 4
0 months: 13
1 month: 11
2 months: 1
3 months: 3
5 months: 1
7 months: 1
9 months: 1
1 year: 1
2 years 5 months: 1
14 years: 1

Abbreviation: n, number of affected children.

^a At the time of the survey.

^b Organic acid: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, methylcrotonylglycinuria (MCG), 3‐methylcrotonyl‐coA carboxylase deficiency (MCCD), glutaric acidemia Type I, primary hyperoxaluria, succinyl‐CoA: 3‐ketoacid CoA transferase (SCOT) deficiency; Fatty acid: medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency, very long‐chain acyl‐CoA dehydrogenase (VLCAD) deficiency, carnitine palmitoyltransferase I (CPT1) deficiency, carnitine palmitoyltransferase II (CPT2) deficiency; Amino acid: homocystinuria Type I, argininosuccinic aciduria.

3.2. Medical Aspect

3.2.1. Diagnosis

Tests performed before diagnosis included NBS (n = 25; 45%), genetic tests (n = 22; 40%), chromosome tests (n = 2; 4%), and six others (n = 6; 1%), with multiple responses allowed. Other reported tests include an organic acid test, cerebrospinal fluid collection, blood and urine tests, and tests that were not specified by the respondents. In one case, NBS yielded a negative result and the diagnosis was made after disease onset.

Thirty‐six (95%) children were diagnosed in the first year of life. Among them, 25 (66%) underwent NBS. The remaining two patients were diagnosed by genetic testing at 2 years 5 months and 14 years of age, respectively.

3.2.2. Development

Of the 38 respondents, 25 (66%) reported developmental concerns. Based on qualitative content analysis of the open‐ended responses, six categories were identified: delay, behavior, learning, sensory, social communication, and physical symptoms (Table 2). Three parents reported concerns about behavioral aspects such as hyperactivity, inattention, and obsessiveness.

TABLE 2.

Developmental concerns.

Categories (number of responses)	Details (number of responses)
Delay (27) a	Overall developmental delay (5)
	Motor developmental delay (7)
	Language developmental delay (8)
	Delayed in language comprehension (4)
	Delayed in language comprehension (4)
	Intellectual developmental delay (3)
Behavior (5)	Hyperactivity (2)
	Attention deficit (1)
	Restricted interests (1)
	Other behavioral concerns (1)
Learning (5)	Delays in learning (1)
	Have weak areas (1)
	Requires iterative learning (1)
	Difficulties in logical understanding (1)
	Limited experience and knowledge (1)
Sensory (3)	Imbalance (2)
	Sensitive (1)
Social communication (3)	Difficulty understanding others' feelings (1)
	Limited emotional expression (1)
	Difficulties interacting with peers (1)
Physical symptoms (3)	Neonatal manifestations (1)
	Feeding difficulties (2)

^a Number of responses.

3.2.3. Support Services

Five respondents (13%) indicated that their children were currently receiving support services. Four provided specific details regarding the type and frequency of interventions. One child (3 years old) with an organic acid metabolism disorder received speech therapy twice a month and attended a developmental support center twice a week. The other child with a fatty acid metabolic disorder received physical therapy twice a month, occupational therapy once a month, and speech therapy once a month from the age of 1 year to the present (12 years). The other one‐year‐old child with an organic acid metabolism disorder underwent developmental monitoring every 3 months from 1 year and 5 months of age. The other child (17 years old) with an organic acid metabolism disorder had been receiving physical therapy since Age 3, occupational therapy approximately four times a year, and speech therapy each semester at a special‐needs school. Eight (21%) participants indicated previous use of support services, 24 (63%) indicated that they had never used it, and one did not provide a response.

3.3. Educational Experiences

The educational stages of the children (pre‐school, elementary, middle, and high school) are summarized in Figure 1. Multiple responses were permitted. Overall, various challenges were identified at each stage of education. To capture these experiences in more depth, we analyzed the respondents' open‐ended responses, which revealed the characteristic issues and coping strategies unique to each educational stage. Through narrative comments, various aspects of these challenges are illustrated.

FIGURE 1.

Education settings of children with organic acid and fatty acid metabolism disorders at each stage of their education*. *The figure summarizes the educational settings attended by the children at each educational stage rather than only their educational setting at the time of the survey. In Japan, elementary school generally covers ages 6–12 years, junior high school ages 12–15 years, and high school ages 15–18 years. The x‐axis represents the number of children. **Other institutions include rehabilitation centers, daycare centers, developmental support centers, and mother–child daycare centers. ***A special needs class is a class within a mainstream school that provides specialized education and support for students with disabilities, whereas a special needs school is a separate school providing specialized education and support for students with disabilities. ****In this study, vocational schools refer to upper‐secondary educational settings that provide practical and vocational education aimed at preparing students for employment; some programs may also lead to professional qualifications.

3.3.1. Education: Pre‐School

Respondents were asked to describe any difficulties they encountered, issues they addressed, or information that was helpful when their children entered nursery school, kindergarten, or other early childhood institutions. In Japan, nursery schools primarily provide childcare services, whereas kindergartens are educational institutions for preschool‐aged children, and both settings are commonly attended during the preschool years. Parents commonly described the importance of proactively communicating with preschool staff regarding their child's condition and individual care needs. Feeding management and medication administration were frequently mentioned. Several respondents emphasized the value of supportive educational staff, whereas others highlighted the importance of access to facilities with appropriate medical resources, such as the availability of a nurse. In contrast, some parents reported psychological distress when their child's disorder became a barrier to enrollment.

Representative comments included:

I consulted and discussed in detail of child's disorder with the preschool teachers before enrollment. Even after admission, I continued to explain and communicate as needed.

I consulted with staff about feeding issues related to my child's dietary needs, such as menu planning, meal times, bringing a packed lunch, management, and handling of special milk and medication.

I experienced psychological distress because several preschools declined admission due to my child's disorder.

3.3.2. Education: Elementary School

Respondents provided a variety of experiences related to their children's entry into elementary school. Parents commonly reported the need for ongoing communication with teachers and school staff regarding their child's condition and individual care needs. Feeding management, medication administration, and emergency preparedness were frequently mentioned. Some respondents also described difficulties related to school enrollment and emotional distress resulting from a lack of understanding or insensitive comments from educational staff. Representative comments are presented below:

I prepared written information describing my child's disorder and explained it to teachers repeatedly.

I consulted with the school about feeding issues related to my child's dietary needs, including menu planning, scheduling meals to prevent hunger, bringing a packed lunch, management, and handling special milk and medication.

I was deeply shocked when a teacher told me that if I wanted my child to interact with others in the community, I should take my child to the park after school.

3.3.3. Education: Junior High School

Respondents provided a variety of experiences related to their children's transition to junior high school. Similar to earlier educational stages, parents emphasized the importance of providing information about their child's condition and discussing dietary needs with school staff. Some respondents also reported the need for additional academic support and difficulties related to school adjustment, including occasional school absenteeism. Representative comments are presented below:

I prepared written information about my child's disorder and explained it to the teachers.

I consulted with the school about feeding issues related to my child's dietary needs.

My child is having difficulty adjusting to the school environment and is occasionally absent from school.

3.3.4. Education: High School

Respondents described a range of experiences related to their children's transition to high school:

We, both parents and the child, were uncertain about the future career path.

We visited schools with dormitory facilities to explore options for independence.

Because attending a mainstream high school was difficult, my child enrolled in a vocational school where a high school diploma could be obtained.

3.3.5. Education and Employment After High School Graduation

Among the children who had graduated from high school, educational and employment outcomes varied. Two entered 4‐year universities, one enrolled in a 6‐year university program, and two pursued graduate studies. One individual attended a rehabilitation center for persons with disabilities, and another entered a residential facility for persons with disabilities.

Thirty respondents reported that their children had not reached the age of high school graduation. Among those who had graduated, three were employed and one had not yet decided on a career path. Two individuals were employed as regular employees, and one was employed under a disability employment scheme.

3.4. Parents' Perspective and Experience

3.4.1. Positive Traits, Strength, and Weak Points of Children With a Genetic Condition

The most frequently reported positive trait by parents was their children's smiles. Other frequently mentioned characteristics included always smiling, being friendly, having a creative voice, kindness, honesty, cheerfulness, diligence, and being family‐oriented (see Table 3). Several parents described their children's strengths as honesty, kindness, laughing frequently, not being shy, doing their best, curiosity, diligence, sensitivity to other's feelings, sociability, and positivity (Table 4). Parents also identified certain weaknesses including emotional fragility, short tempers, sensitivity, short attention spans, inflexibility, difficulty communicating with others, lack of patience, and passivity (Table 4).

TABLE 3.

Positive traits.

Smiling face (12) a	Friendly (2)	Like jokes (1)
Always smiling (4)	Hardworking (2)	Shy (1)
Honest (4)	Big, round eyes (2)	Cheeks (1)
Cheerful (3)	Adorable (2)	Lovely face (1)
Lovely voice (3)	Family‐minded (1)	Thick eyebrows (1)
Kind (3)	Calm (1)	Hair (1)
All (3)	Charming (1)	Glasses (1)

^a Number of responses.

TABLE 4.

Strength and weak points.

Strength points	Weak points
Honest (7) a	Mental weakness (6)
Laugh a lot (6)	Short temper (5)
Doing best (6)	Delicate (4)
Kind (5)	Short attention spans (4)
Concern for the feeling of others (5)	Inflexible (3)
Not being shy (3)	Not good at communicating with others (3)
Curious (3)	Lack of patience (2)
hard worker (3)	Passive (2)
Sociable (3)	Forgetful (1)
Patient (3)	Do not get depressed (1)
Positive (2)	Take time to get used to (1)
Calm (2)	Get carried away and can't stop playing pranks (1)
Be able to concentrate on details (1)	Get lonely easily (1)
Quick change of mind (1)	Strong power (1)
Like hospital (1)	Scared of dogs (1)
Reliable (1)

^a Number of responses.

3.4.2. Parental Experience in Their Daily Lives

Twenty‐eight parents responded to an open‐ended question about their daily experiences and messages for health care professionals and other families who have, or may in the future have, children with the same genetic condition. Inductive qualitative content analysis identified 10 categories: (1) feeling grateful, (2) medical and social systems, (3) seeking information, (4) early diagnosis, (5) thoughts at the time of diagnosis, (6) as a family member, (7) existence of support, (8) response from healthcare professionals, (9) about the disorders, and (10) thoughts and experiences as parents of children with a disorder. Detailed categories and representative quotations are provided in Appendix S2.

Among these categories, the category “thoughts and experiences as parents of children with a disorder” contained the largest number of responses and comprised several subcategories. Parents described positive feelings toward their children, challenges encountered in daily life, emotional distress, anxiety about the future, and concerns regarding siblings and family relationships. Representative quotations from each subcategory are presented below.

In the subcategory “as a parent,” parents expressed positive feelings toward their children and emphasized the importance of supporting them to enjoy their lives. Representative comments included: “I believe that as parents, we can do what we can to help our children enjoy their lives” and “I am very happy to have had my child.”

Regarding “daily life”, parents described the challenges of managing everyday life, including frequent hospital visits and the continuous need to monitor dietary restrictions and infection control. Representative comments included: “I spend my days with my affected child thinking that if I do my best now, one day I will be able to look back on those difficult times” and “I must constantly be aware of my child's dietary restrictions and infection control.”

Concerning “emotions”, some parents reported feelings of helplessness and emotional distress associated with their children's health conditions. Representative comments included: “Sometimes I feel helpless” and “Whenever something happens to my child, I am in a terrible state of mind.”

In the subcategory “anxiety” about the future, concerns regarding long‐term prognosis and uncertainty about the future were commonly reported. Representative comments included: “Even now, when I think about my affected child's future, I sometimes cry because of vague fears” and “I am most worried about my affected child's long‐term prognosis.”

In the subcategory “siblings and family”, parents described both concerns regarding siblings and positive changes in family relationships. Representative comments included: “My heart breaks with worry and anxiety about my affected child's siblings” and “My child's illness has made our family stronger.”

4. Discussion

This study explored the experiences of families of children with organic acid and fatty acid metabolism disorders across the diagnostic process, developmental concerns, supporting services, educational experiences, and daily life.

In this study, 95% of children were diagnosed within the first year of life. This early diagnosis may be attributed to the widespread implementation of NBS and the clinical characteristics of metabolic disorders, whose symptoms often appear shortly after birth. According to a previous study on diagnostic experiences in rare diseases, approximately 50% of children (350/718) were diagnosed during infancy, between birth and 1 year of age (Molster et al. 2016). Metabolic disorders tend to be diagnosed earlier than other rare diseases because of widespread NBS use, which is essential for identifying and preventing IEMs, including amino acidopathies (Wasim et al. 2018). However, false‐negative and false‐positive results can occur with NBS. A false‐positive result may increase parental stress levels (Waisbren et al. 2003), whereas a false‐negative result may delay diagnosis and treatment. In our study, no participant received a false‐positive result; however, one child was diagnosed after disease onset following a false‐negative NBS result.

More than half of the respondents (63%) in our study expressed concerns about their children's development. Qualitative coding revealed diverse areas of concern, including delay, behavior, learning, emotion, and sensory processing, indicating that parents perceived development not only in motor or language milestones, but also in social and emotional domains. Waisbren et al. (2003) reported that children with metabolic disorders identified by NBS showed fewer developmental problems than those diagnosed clinically, with the NBS identified group scoring 1–2 SDs higher on developmental tests than the clinically identified group. Moreover, they pointed out that early metabolic disorder identification through NBS was associated with lower parental stress than clinical diagnosis. These findings, together with ours, suggest that early diagnosis and timely treatment may contribute to improved developmental outcomes and reduced parental stress. Nevertheless, concerns regarding children's development remained common despite early diagnosis and the widespread use of NBS. This suggests that worries about development are not uncommon and that attention should be paid not only to marked intellectual disabilities but also to subtle difficulties in behavior, social, emotional, and sensory domains. These findings underscore the importance of adopting a holistic developmental perspective when supporting children with metabolic disorders and their families.

Educational experiences emerged as another major area of challenge, and the nature of these challenges evolved across developmental stages. Parents described difficulties related to school admission and the need for individualized support during the preschool and elementary school years, whereas concerns regarding school adjustment, academic support, future career paths, and independent living became more prominent during adolescence. Despite these changing needs, continuous communication with educational staff regarding the disorder, dietary management, and medication remained essential throughout childhood. Previous studies have similarly reported that families of children with metabolic disorders experience difficulties related to dietary management and a lack of understanding in educational and social settings (Yamaguchi et al. 2016; von der Lippe et al. 2017). Our findings suggest that educational transitions represent important periods during which families may require additional support. Facilitating communication with educational staff and promoting understanding of the disorder may help reduce parental burden and ensure appropriate support for children with metabolic disorders.

Regarding the children's characteristics, the most frequently cited positive traits, strengths, and weaknesses were a smile, honesty, and emotional fragility, respectively. Although these perceptions may vary among parents, we believe that understanding the perceived positive traits, strengths, and weaknesses of individuals with disorders may promote communication and mutual understanding between families, educators, and healthcare professionals.

Parents' narratives highlighted the coexistence of gratitude toward healthcare professionals and ongoing uncertainty regarding medical, educational, and social support systems. Rather than reflecting a single type of need, these narratives suggested that families simultaneously experienced appreciation for individual professionals, difficulty accessing structured information, and anxiety about the future. This finding indicates that family‐centered care should address not only medical management but also the broader informational and psychosocial needs that emerge in daily life.

One noteworthy point is that parents expressed gratitude to medical professionals and others around them, reflecting the importance of supportive relationships. Many parents described feelings of relief and emotional stability when treated with empathy and continuity of care by familiar medical staff. Expressions such as “thank you for saving my child's life” or “I trust the nurses who have cared for us since birth” revealed how sustained relationships with healthcare professionals fostered resilience and a sense of security in daily life.

At the same time, parents voiced a strong desire for more accessible and structured sources of information about rare metabolic disorders and social support systems. They often faced uncertainty in navigating the medical, educational, and welfare systems, feeling that relevant information was scattered and difficult to interpret. This dual perspective, gratitude toward individual healthcare providers and frustration with systemic limitations, highlights the need for coordinated, family‐centered care models. In general practice, specific care and use of the relevant information sources for rare diseases are lacking (Byrne et al. 2020) and although primary care professionals, who are often the first point of contact, see few patients with rare diseases, they might be confronted with various conditions (Molster et al. 2016).

Notably, parental concerns in this study encompassed not only motor or cognitive development, but also behavioral, emotional, and sensory domains. These findings highlight the importance of adopting a holistic developmental perspective and providing access to appropriate support services, including developmental assessment, rehabilitation, educational resources, through multidisciplinary collaboration. Previous studies of families living with inherited metabolic disorders have similarly reported substantial psychosocial and practical burdens related to dietary management, developmental uncertainty, and social participation, reinforcing the need for ongoing family‐centered counseling support (Schnabel‐Besson et al. 2025; Harings et al. 2024). In this context, genetic counselors may be well positioned to contribute to multidisciplinary, family‐centered care by facilitating communication, identifying support needs, and coordinating referrals to appropriate resources.

Furthermore, the repeated school‐related challenges described by parents in this study indicate that genetic counselors may serve an important liaison role at key educational transitions. Providing written explanations of the disorder, supporting communication with educational staff, and assisting families in navigating social welfare and educational systems may help reduce parental burden and promote more inclusive educational environments. By integrating medical information with psychosocial and educational support, genetic counseling can contribute to improving quality of life for both children with organic acid and fatty acid metabolism disorders and their families.

From a genetic counseling perspective, these findings underscore the importance of timely and longitudinal psychosocial support across the care trajectory for families affected by organic acid and fatty acid metabolism disorders. A recent systematic review by Tluczek et al. (2022) demonstrated that psychosocial challenges following NBS, such as heightened parental anxiety, uncertainty, and difficulty interpreting information, can be mitigated through clear communication, anticipatory guidance, and access to individualized genetic counseling. In the context of inherited metabolic disorders, early genetic counseling at the time of NBS results may support families in understanding diagnostic pathways, normalize emotional responses, and support coping with complex medical and social systems. Our findings further suggest that genetic counseling should extend beyond the diagnostic phase, as many parents continued to express concerns related to development, education, and daily management even after early diagnosis.

Previous studies have reported that parents of children with inherited metabolic disorders experience substantial emotional, practical, and social challenges (Shirdelzade et al. 2023). Consistent with these findings, the parents in our study described diverse experiences related to raising children with organic acid and fatty acid metabolism disorders and other metabolic disorders. In addition to medical and developmental concerns, they emphasized issues related to education, family relationships, and future uncertainty. Many parents also described the coexistence of hardship and growth, expressing both emotional strain and a deepened sense of family unity. These findings suggest that caregiving experiences are multifaceted and may involve not only burden but also resilience, gratitude, and the re‐evaluation of family values. Incorporating these lived experiences into clinical and social support frameworks may contribute to more family‐centered care for individuals with rare metabolic disorders.

This study had several limitations. First, the sample size was relatively small, reflecting the rarity of these disorders and limited number of families registered with the patient organization. Second, participants were recruited through a single Japanese patient and family association. Therefore, the experiences of families who were not affiliated with the patient organizations or who chose not to participate may not be represented, limiting the generalizability of the findings. In addition, most respondents were mothers, and the perspectives of fathers and affected individuals themselves were not explored.

Further studies should include a large and more diverse population and explore the perspectives of affected individuals as well as other family members. In‐depth qualitative interviews may provide a richer understanding of the lived experience and information needs of families, whereas longitudinal studies may help clarify how developmental, educational, and psychosocial support needs evolve over the present study and may help identify the type of support and resources that are most appropriate for families and children living with metabolic disorders.

5. Conclusion

Our findings highlight the lived experiences of families of children with metabolic disorders across the diagnosis process, developmental concerns, educational experiences, and everyday psychosocial challenges. Understanding these experiences is essential for healthcare professionals and support systems to provide more accessible, coordinated, and family‐centered care as healthcare systems continue to evolve. We hope that sharing these parental experiences will increase societal awareness and promote a better understanding of metabolic disorders.

Author Contributions

All four authors (M.K., K.H., C.T., and H.K.) contributed to the study conception and design and performed the questionnaire survey. M.K. analyzed the collected data. M.K. and H.K. drafted and revised the manuscript. All the authors have read and approved the final version of this manuscript.

Disclosure

No generative artificial intelligence tools were used in the writing, analysis, or preparation of this manuscript.

Ethics Statement

This study was approved by the Jikei University Hospital Institutional Review Board (33‐145) and all procedures were conducted in accordance with the relevant guidelines and regulations.

Consent

The participants were provided with an online questionnaire that included an informed consent statement. Parents who agreed to participate indicated their consent by checking the “I agree to participate in this study” box in the online form. Submission of the completed questionnaire was regarded as informed consent.

Conflicts of Interest

The authors declare no conflicts of interest.

Supporting information

Appendix S1: Details of the questionnaire.

Appendix S2: Parental experiences in daily life.

Data Availability Statement

The data generated or analyzed during this study are included in this published article and its Supporting Information files.