Study subjects

Of 158 eligible participants who responded to the quantitative questionnaire, 33 participants showed interest in participating in the subsequent qualitative aspect of the study by responding ‘Yes’ to the invitation question on the quantitative survey. All interested participants were invited by the clinical research coordinator to schedule an interview with the research team. Reminders were sent every 4 weeks to ensure that every participant who indicated interest was included. Thirteen caregivers responded to the invitation to schedule an interview and provided verbal consent to participate in the qualitative study (see Table 2). Ten participants were biological mothers while three were biological fathers of children with AMC between 35 to 60 years of age (mean age = 45.41 years). Among the participants, nine were employed full time, two were unemployed, and one was retired, while one was on workers’ compensation. The age of the children (male n = 5, female n = 7) with AMC ranged from 1 to 21 years (mean age = 10.14 years). Seven caregivers reported their child’s condition was detected in utero while it was diagnosed after birth for the remaining six. Twelve of the children had no neurological involvement with AMC while it was unknown for one of the children. Nine of these children had both upper and lower limb involvement, three had lower limb involvement only and one had only upper limb involvement. Of the 13 participants, close to half were from the USA (n = 7) while others were living in Canada, Spain, and France.

The thematic analysis of the caregivers’ interview yielded the following five themes: 1. Impact of the caregiving experience; 2. Cost of childcare; 3. Support systems for care; 4. Managing and navigating care of the child; 5. Supporting the child’s growth and development. These themes are described below, with additional details in Table 3.

Theme 1: Impact of the caregiving experience

This theme covered the positive and negative impacts of care on caregivers’ health and their coping mechanism including their current and future worries.

“It is so nice to share the issues and everything, especially with other parents concerning our child.”

By sharing their lived experiences, caregivers not only acquired valuable information but also found reassurance and gained insight into what the future holds. Caregivers mentioned improvement in their parents’ organizational and time management skills, following the gratifying effect of their child's appreciation for their efforts.

“Taking my child, you know for the sixth time this week to a specialist appointment, so they can get XY and Z, it’s a thing and its okay and normalizing it has been my driving force and now it’s a part of everyone’s life…”

The positive impacts extended to the entire family, as other children in the household also developed empathy towards their siblings with AMC and other children with disabilities. Alongside, caregiving has opened up opportunities, such as involvement in research and AMC support groups.

“I am lucky to have freedom from my job because I continue to work 100%, so mostly at nights. I can be there to care for her during the day, so that is it, it helps me quite a bit indeed. ”

Caregivers who work from home identified that the opportunity of working from home presented them with a balance, which allowed them to allocate time to both their child with AMC and their other children.

“We were working from home, so it was easy to be there most of the time.”

“….Our work has made us able to organize our time, schedule and coordinate ourselves….”

Additionally, caregivers mentioned gaining in-depth knowledge about AMC helped alleviate feelings of guilt or responsibility for causing the condition. Their better understanding of AMC is further strengthened by insights from genetic testing, reassurance that their child's condition is structural rather than due to any shortcomings on their part. However, caregiving is undoubtedly filled with challenges and presents a range of negatives that parents need to navigate. Caregivers outline that the journey of caregiving often begins with the child's birth experience, which might involve pressure to consider abortion due to the potential daunting extent of the child's condition.

“It's very challenging, when you know the baby has AMC, of course they talk to you about abortions, you know?”

“It's just not what you think life is gonna be like when you get older, and no one gets pregnant and thinks they're going to have a child with disabilities.”

The lack of proper diagnosis compounds the fears of parents, making the experience of caregiving more overwhelming. Feelings of isolation were also identified as some partners of caregivers struggle to cope, and some caregivers experienced loss of friendships due to time constraints from the child's needs.

“After I gave birth, they took my husband to see my son and showed him our son’s difficult situation, my husband came out crying saying I don't understand anything.”

“It's just it's an alone world.” “She is my daily office.”

Many parents mentioned finding themselves shouldering the responsibility alone, either due to separation or the partner's lack of engagement in the child's care. Support groups were noted as often scarce, leaving parents without the solace of connecting with families facing similar challenges. Financial stress was stated as a source of anxiety for caregivers, adding strain to the situation. The perception of society weighed heavily, as parents grapple with public scrutiny and the constant need to explain their child's condition to others. The incongruence between societal expectations of new mothers and babies and their own situation fosters feelings of inadequacy.

“Most of the time it was like I was at a breaking point.”

“If you don't have the luxury of stepping down from your position to take care of your child, life would look a lot harder.”

“People look at my son with this curiosity and not like a child but like a sick person. It’s a refusal from society.”

Additionally, parents found themselves reevaluating their entire lives, as caregiving takes center stage, necessitating a complete reorganization of living arrangements, work priorities, and future plans. The toll was not only emotional but also physical and mental, as caregivers battled exhaustion from the demands of care, often leading to back problems and other physical difficulties.

“As much as I tried to get to the gym and work out and do what I needed to be able to take care of her, she got heavier and I'm getting older.”

Worries about the child's acceptance and well-being were also on parents' minds. Accepting their child's differences from others was noted as a painful process, and parents hope for acceptance by peers and teachers. Witnessing their child undergo challenging experiences adds an extra layer of emotional burden for parents, as they struggle with the unique hardships their caregiving journey entails. Despite these numerous challenges, parents demonstrated their ability to adapt as they navigate the complexities of caregiving for their child with AMC.

“It's tough having a child with any sort of disability because you want to protect them, but you also want them to succeed, and you can't necessarily do both at the same time.”

Theme 2: Cost of childcare

This theme addressed the strategies employed by parents to ensure coverage of their child’s care, and socioeconomic factors associated with these costs such as provincial or state, and federal coverages. The cost of caring for a child with AMC is complex, encompassing a wide array of sources and strategies to manage the financial impact of care. Depending on the country of residence of our participants, various sources were identified to offer coverage, such as educational institutions providing physical therapy and occupational therapy, and other specialists like child life development specialists or psychotherapists. Governmental provisions were also identified, including Social Security, Medicaid, and Medicare in the USA, along with specific state insurance programs or health plans, as mentioned by participants. Additional financial opportunities included grants, early intervention programs, and family support through shared caregiving responsibilities. Associations such as Neuromuscular Disease Foundation and Adapted Sports Federation also helped to subsidize or cover adapted sports (e.g., swimming). Shriners Hospitals for Children was largely mentioned as a provider of health care services that were completely covered with no additional costs to caregivers. Caregivers also mentioned that the cost of care was higher when the child was young, as it was typically during the early years that the child had most of their surgeries and therapies.

“The bulk of our costs in general happened when he was younger.”

“When he was younger there was a huge social, direct, indirect costs...”

Caregivers adopted diverse financial strategies to secure necessary coverage. These strategies included extensive savings and allocation of house finances as emergency funds to meet unexpected medical costs. Other strategies mentioned were sacrifices made by reducing or eliminating vacations and non-essential expenses, ensuring the child's care remained a priority.

“So, what do we cut? Well, we're not vacationing. I mean, is vacationing a need?”

Some caregivers consulted financial advisors to ensure the family's financial health was protected. As highlighted by caregivers, while many costs of care were covered, not all services fall under insurance coverage. Private therapies and complementary services (e.g., adapted swimming, hippotherapy) were noted to not be fully covered, depending on the country where caregivers were accessing medical care. In general, public healthcare systems were reported to fall short in terms of timeliness and comprehensiveness of the intervention. In some cases, private providers were reported to offer more comprehensive care and quicker access to necessary treatments, which resulted in more costs. Caregivers opined that navigating insurance coverages, and navigating more than one insurance policy, often remained complex with their policies imposing limitations on the number of visits, type of services and activities and coverage percentages, and presenting with inconsistencies in out-of-state and out-of-country coverage. In some cases, certain congenital conditions such as AMC were identified as not covered by insurance, and surpassing insurance limits was said to require persistent communication with healthcare professionals and insurance companies. Although some caregivers had good insurance coverage, not everyone had access to comprehensive coverage, as higher incomes resulted in less accessibility to financial aid.

“You know because I have a good income, I cannot qualify for certain things.”

Indirect costs (e.g., travel, accommodation, missed work for appointments) added up significantly. Adaptive equipment for schooling, personal time sacrifices, and the psychosocial toll were often not accounted for. Accessibility concerns sometimes led to moving or modifying homes, incurring additional costs. In essence, caring for a child with AMC or any childhood disability required navigating a complex web of funding sources, personal sacrifices, and strategic financial planning. The process was described as a journey marked by resourcefulness, and a continuous search for ways to provide the best possible care for these exceptional children.

Theme 3: Support system for care

This theme covered the caregivers need for regular help with caring for their child. Support systems play an important role in the journey of caregiving for children with AMC but does come with their downsides. Family and friends were noted to provide essential emotional and practical support to caregivers with older children, partners, and ex-partners being the biggest contributors to caregiving, helping with chores, lifting, and emotional well-being. Living close to family members and having friends willing to assist was noted to ease the impact of caregiving. Caregivers mentioned that absence of proximity of family was detrimental and challenging, requiring substantial travel to get some assistance, Also, some family members, partners, or friends may not fully comprehend the condition or may be unable or unwilling to assist physically or emotionally in caregiving. Paid caregivers, such as night nurses or babysitters, were also identified to offer respite and assistance during night hours or work periods. However, finding reliable paid caregivers was identified as an ongoing struggle, as the job was demanding, and remuneration didn’t reflect the intensity of the role. The COVID-19 pandemic was said to have further exacerbated the shortage of paid caregivers.

“There’s just no one who wants to work for that wage.”

“Just like we all know, COVID was kind of a different time, right? We couldn’t really have caregivers.”

Within school and daycare settings, other supports such as child life specialists, adapted equipment, and companionship, helped promote the development of children with AMC. However, some schools were seen to shy away from offering enough support and resources due to legal concerns. AMC organizations and groups were noted to provide invaluable guidance, shared experiences, emotional support, and practical assistance through conventions, publications, financial aid, grants, and social workers. However, they sometimes struggled to accommodate the diversity within AMC conditions, and disruptions like COVID-19 hindered face to face support. Technology (e.g., the Internet, social media, and messaging platforms) helped reduce the distance and fostered connections for caregivers to find other caregivers with similar experiences.

“At the end, we looked up AMC on the Internet and found that there's an association in Spain.”

“And then I guess some like Internet research, like for doctors in Spain who were specialized in like arthrogryposis.”

Healthcare systems were identified as offering specialized professionals, therapists, surgeries, and referrals, contributing to comprehensive care. Governmental agencies also provided early intervention schemes, grants, equipment support, and financial assistance, easing financial burdens. Societal and environmental factors (e.g., public park accessibility, supportive towns, and therapy dogs) created an inclusive and welcoming atmosphere. However, depending on caregivers’ location, navigating healthcare systems remains complicated, with some healthcare professionals lacking understanding about AMC and sometimes brushing off parental concerns. Support systems play an instrumental role in shaping caregiving experience, offering crucial assistance while highlighting areas for improvement and growth.

Theme 4—Managing and navigating care of the child

This theme addressed caregivers’ navigation and management of service which requires resourcefulness, and meticulous planning across multiple domains of life. Caregivers mentioned their need to proactively seek information, often struggling to find reliable sources about AMC and its management. The Internet, social media, books, and peer interactions became crucial resources. Caregivers who were employed as healthcare professionals mentioned the ease, they experienced due to their knowledge of disability, but many noted that generic information did not always address the specifics of AMC (e.g., the level of involvement of the child’s condition).

“Getting information was hard because it didn’t exist, there was no web page, no Google, that said what to do for these two years.”

“It was hard to understand what arthrogryposis was, and we discovered what it was several weeks later.”

Education became a centerpiece, requiring parents to align their lives around their child's school schedules. Transferring or changing schools was said to be challenging, as it involved meticulous coordination and documentation. Interactions with teachers also required clear communication to ensure the child's needs were met.

“So, we are trying to build all of our life or trying to do everything around school for our child.”

“The hardest thing was just dealing with the school, so I actually put a tracking device on her because you go to these Individualized Education Programs (IEP) meetings and you're told, this is where she's gonna be.”

“So, we had to send all of our child’s documentation and everything to the school.”

Navigating healthcare systems was mentioned to be a formidable task. Some caregivers had to deal with moving to new countries, which entailed dealing with new systems, doctors, and insurance. Parents often found themselves as the pivot connecting specialists, therapies, and services. Although very hard to differentiate, caregivers outlined that their personal lives were intricately intertwined with caregiving. Balancing work with caregiving was a constant struggle. Obtaining work reduction permits (e.g., Family and Medical Leave Act) remained a challenge depending on the caregiver’s job and their roles. The line between personal and professional life was blurred as parents mentioned that they needed to be available for potential emergencies. Overall, securing nursing services became essential for parents in order to sustain their work commitments. Scheduling and coordination are paramount, with parents often dividing responsibilities between themselves. Vacations were noted to require extensive planning to accommodate the child's needs. Managing and navigating the complex needs of a child with AMC entailed continuous advocacy and an agile approach to problem-solving. Parents became adept at researching, networking, and organizing, while also adapting their personal and professional lives to ensure their child received optimal care. This multifaceted effort spoke to the dedication exhibited by the parents as they struggled through the complexities of caregiving.

Theme 5—Supporting the child’s growth and development

This theme included the strategies parents incorporated to ensure that their child was well supported in their education, recreation activities and environment. In the area of education, caregivers found themselves very involved in the organization of their child’s educational curriculum. For instance, parents wanted to ensure that their child was involved in school activities (i.e., sports) and pushed for more autonomy for their child in other activities (e.g., eating real food, walking). Advocacy for their child’s Individualized Education Plan (IEP) and adaptation of educational materials was mentioned as a key parent responsibility to ensure that the child could function in class and follow academic goals.

“This year was the first year that I had to advocate for an IEP, he's in public school this year as opposed to a charter school.”

“So, they make sure he has, the proper chairs he needs to sit at a table with his peers or they make sure he has a stander in his classroom so that he can stand during circle time with his peers.”

Parents also tried to encourage their child to get involved in extracurricular activities (e.g., sports, camping, hiking). Although offered in selected places, adapted versions of these activities were hard to come by depending on the location of the families, with a lot of planning involved. Complementing therapies such as physical therapy, occupational therapy, swimming, and hippotherapy were necessary, as reported by caregivers, to support their children’s development even though some resulted in additional out-of-pocket cost. Non-invasive therapies (e.g., massages, physical therapy), and alternative therapies (e.g., adaptive swimming, hippotherapy) were also mentioned by caregivers. Other strategies such as toys for fine motor skills, embedding therapies into daily routines (e.g., activities of daily living) and consulting a child life development specialist before every medical procedure made accessing therapies and doctors’ appointments easier.

“Therapies became a part of life, just like breathing.”

Some caregivers mentioned that they created “days off” as having over 4–5 doctors’ appointments in a week was overwhelming for both the caregivers and their child. Transition to adulthood was a big concern for caregivers. Although vocational rehabilitation was available, depending on the country, a lack of interest in available vocation services was observed. While parents were willing to support their child’s interests, such as blogging, the financial and time commitment (e.g., buying a computer, helping their child type, etc.) made it hard for the caregivers to support their child’s interests. Other concerns raised were questions about the future and their older child finding a partner, having sex, privacy as the child matures, and independence when the caregiver was no longer to be involved in the care of the child with AMC. Normalizing disability, letting the child do things on their own, and teaching them to be their own self-advocate were some of the strategies of the caregivers.

“Having to push him to advocate for himself instead of me advocating for him. We've learned it to be helpful, to get him to the place where he’s able to walk around himself and even go to the bathroom himself.”

“Even though the person has a disability, they want more to life than just having that disability.”

“She has limitations, but she wants to find a boyfriend that also has AMC, it is hard to find.”