Sample

We interviewed 21 caregivers of children with SMA I and SMA II (characteristics detailed in Table 2).

Table 2 Caregiver and child characteristics (n = 21)Disease and coordination management of the caregivers

This code describes the resources and barriers to coping with organizational or coordination-related disease demands and associated consequences. The caregivers interviewed reported four major topics in their disease and coordination management: (a) experiencing self-efficacy/confidence in coordinational/organizational tasks, (b) experiencing uncertainty/feelings of powerlessness in care coordination, (c) experiencing a sense of responsibility in care coordination, (d) dealing with the consequences of (perceived poor) care coordination. Depending on the topic, this code can benefit or detract from care coordination.

Experiencing self-efficacy/confidence in coordinational/organizational tasks

Only a few caregivers referred to this area. They reported the availability of a (social) network for support, e.g., parents, partners, or other affected persons. Similarly, they listed supportive sources of information, such as the Internet or meetings of patient advocacy organizations. They reported on their expertise growing through experience, giving them a sense of security concerning care coordination.

The first one or two years were really up and down and nerve-wracking, but in the meantime we have everything well under control. We have our own nursing service. We have our therapists. Yes, we know very well what we ourselves have to do with infections, what we’ve got to inhale with, how we should react. We know when and how to give oxygen and which parameters on the pulse oximeter are good for him and which are bad. […] So yes, we already have a bit of medical expertise.

We were lucky that we are such an intact family that supports each other. We have a strong character and a solid education. We can assert ourselves well. But not everyone has such a background.

Experiencing uncertainty/feelings of powerlessness in care coordination

Many more caregivers reported feelings of uncertainty and powerlessness concerning coordination of care. In this context, they mentioned the high level of information input, as well as a cognitive load due to a myriad of coordination tasks. This is associated with doubts about whether certain care options are the right ones or take place at the right time, as well as uncertainty about heterogeneous, symptomatic care in children with SMA.

You sometimes feel very uncertain. It is quite good we have support groups between parents and doctors – but if opinions differ, then it is quite difficult to judge. Am I right? Or what should I do now?

What they’ve given me to read I can’t say anymore. That’s because there just too much input.

Experiencing a sense of responsibility in care coordination

Closely related to the previous focus, nearly all caregivers reported a sense of (sole) responsibility within care coordination. The interviewees described the feeling of being permanently responsible for everything and feeling a great deal of pressure to act. Related to this, some of the caregivers interviewed reported that they felt they could not rely on healthcare professionals and therefore had to manage many issues themselves. They also described a high degree of motivation to inform themselves about SMA.

We make sure that we also carry out therapy measures on him together with our nurses. Every day we do something, because we have noticed […] whatever you do, it’s not enough with SMA.

[…] we have become members of the German Society for Muscular Dystrophy. It is good to be able to exchange information. You simply see how other families manage it. That always gives you some incentive.

It's true, […] we have to invest a lot of time in […] passing on all the information and really taking care of every detail. Of course, it takes a lot of effort to think everything through. Sometimes you have a lot of respect for this responsibility… Sometimes it works out better when you face it, and sometimes it doesn’t.

Dealing with the consequences of (perceived insufficient) care coordination

Furthermore, a few caregivers reported the consequences of (perceived insufficient) care coordination. Some treatments were initiated too late in the eyes of the caregivers. They described that it’s hard to take having to wait for them, and to accept that time and effort on their part won’t bring the desired progress. Some even described a changed personality because of intensive care coordination as well as insisting on delaying treatments (e.g., requesting aids).

And it’s the same with this disease: The sooner you can start treatment, the sooner you’ll succeed. I would say that we already observed the first symptoms four to six weeks after birth. E. was five months old when we first got treatment. And that's very frustrating.

Well, I’ve also changed a lot as a result. I used to be very shy. I didn’t use to try to follow my own instinct or a feeling – I really just accepted what was being said. Nowadays I'm different.

General conditions of care

General care conditions include relatively permanent and persistent conditions with an impact on care coordination [23]. This mainly comprises organizational aspects guiding care provision from the care network and accompanying the family as they move through care [1]. Within this category, we have identified two different topics: (a) the availability and compatibility of (suitable) healthcare professionals, and (b), healthcare organization structures.

Availability and compatibility of (suitable) healthcare professionals

For patients with SMA, there are local care providers close to home (e.g., occupational therapy, physiotherapy, speech therapy, and home care service) who provide supportive therapy or nursing assistance. There are also specialized facilities (e.g., neuromuscular center, social pediatric center (SPC), etc.) that provide drug therapy along with other SMA-specific services, and are often located farther away.

A large proportion of caregivers interviewed reported a limited choice of (good) healthcare providers due to a sparse local care network. Most interviewees described the lack of local therapists and hospitals possessing sufficient expertise in this rare condition. Furthermore, there are few specialized neuromuscular centers nationwide. The caregivers reported long travel times and complicated coordination of their appointments. Many caregivers mentioned especially the long distance to the neuromuscular center, which makes it hard to manage SMA-specific problems close to home.

Of course, it would be good if we were already connected to the SPC, because then you’re also in close proximity to everything. So [in the neuromuscular center] you’d get Spinraza treatment, but the SPC accompanies the whole development – that would be just ideal.

Exactly – we live in a rural area where the supply is generally worse. We keep trying to create a network somehow, but it is difficult. We've been at it for two years now.

The fact that the neuromuscular center is so far away from us makes things difficult – it’s 300 km. If something does not go well with S., we have no nearby neurologist we can call.

We live in a small town; there is no orthopedist with SMA patients in their file. One would tend to find something like that in a somewhat larger city, that is, I’ve got to travel a little further to get to those who often see an SMA patient in order to benefit from the knowledge that that therapist, that physician has.

At the same time, some caregivers interviewed reported improved opportunities for coordination through relationships among healthcare professionals thanks to their local proximity.

I should say that I come from V., where the doctors know each other quite well. They’ve already worked together since the diagnosis. That is perhaps an advantage of ours – that they know each other well and work together.

Healthcare organization structures

Some interview participants criticized insufficient care coordination from specialists or local hospitals (e.g., long waiting times). This was particularly difficult in combination with strong pressure to act that caregivers felt regarding the coordination of their child’s care. Caregivers saw this as primarily due to limited time and human resources within the healthcare system.

We waited six hours at our orthopedic appointment. We got very angry and asked them to ensure that that not happen again!

On the one hand, you go to see the specialist, but many other patients do that too. This makes things complicated: Two months waiting time for an appointment is quite normal.

But otherwise we do everything ourselves, because we know that staffing in the hospitals is simply too low. They can't put someone at M.'s bedside 24 h a day.

A large proportion of respondents described intensive, repetitive contact with the health insurance company as a time-delaying component that can complicate care coordination further.

The past two years were really stressful, especially because we had to convince our health insurance provider about what was right for our daughter.

There are the constant battles with the health insurance provider: they refuse to approve it. You have to do the paperwork again.

He had an SPIO body prescribed, which we rejected immediately. We filed an objection. And we haven't heard anything for a month […]. So I called the insurance again to ask what the situation is now. We’ve received no letter, nothing at all. And then you’re always asked to call back… and get contradiction after contradiction. And so far, everything we’ve asked to be approved has been initially rejected.

Expertise and skills

This code describes on the one hand the amount of the caregivers’ available expertise [1, 16]. On the other hand, caregivers’ statements regarding their skills (or shortage thereof) and the expertise (or lack thereof) of the healthcare professionals are summarized [1, 16]. Thereby, the term “skills” mainly refers to the medical field and their associated knowledge and not to meta-skills (e.g., good communication skills). Expertise, on the other hand, refers (beyond medical knowledge) to being informed about existing structures or existing rights/opportunities within the care of children with SMA. We divided this code into two sub-codes: (a) expertise and skills of HCP, (b) expertise and skills of caregivers.

Expertise and skills of HCP

A large proportion of interview participants described varying levels of general expertise about SMA. Due to the rarity of this disease, caregivers frequently reported limited knowledge on the part of healthcare professionals. In this context, caregivers also reported receiving varying levels of professional support, e.g., education after getting the diagnosis or when applying for aid, and information about new pharmacological treatments.

I realize that some doctors know relatively little about this disease. We really noticed that last year when we saw the pediatrician and she said: “Oh, it’s a minor bronchitis; droplets are enough”. A few days later we were in the hospital with her intubated for the weekend.

Well, our pediatrician was more along the lines of: Now let everything sink in… but I couldn't sit idly by and do nothing. We became active ourselves because of that. Well, she does not have the […] knowledge about SMA, which is also because the disease is so rare. […] It's new territory for the doctors.

Why don't you find a good physical therapist for an SMA child? There is no such person! They just don’t exist. […] Specialized physiotherapists who know what they are doing: How far should I stretch this muscle? How far should I go? What about the muscle inflammation that occurs in SMA when you overstretch? That’s the kind of information that’s often lacking. The specialized knowledge is not there.

In addition to disease-specific skills and knowledge, a small group of interview participants reported heterogeneous levels of knowledge about what additional services and opportunities exist in the care network (e.g., knowledge about the general existence of neuromuscular centers in Germany).

What I missed in the hospital where we got the diagnosis is that we weren’t told that there are other hospitals with maybe more experience with SMA already, and that there are muscle centers in Germany. […] The doctor didn’t tell us he couldn’t help us, but perhaps the hospitals in Freiburg, Essen or Munich have more experience with this disease – and maybe it’s worth asking there. We found that out on our own.

For example, when doctors recommend an aid, they usually can't tell you where to obtain it.

In addition, a few caregivers reported that healthcare professionals are also willing to communicate uncertainties about SMA and seek further education or information from specialized institutions or literature.

Our pediatrician said right from the start that she had no experience, but that she’d be very happy to help us. She really gets information, and is in contact with another pediatrician who also has an SMA child. They exchange information. We have another hospital here in S that administers Spinraza, but they have no type I children. Our pediatrician is also in contact with that hospital and can get information there.

I'm thinking of our hospital here in our area, when they realize that they don’t know what to do anymore. Then they call the neuromuscular center because the (doctors there) know more about SMA who could help us. Yes, that’s what they communicate – that they don’t know what to do and will call the neuromuscular center.

Expertise and skills of caregivers

This sub-code primarily describes the “growing into” an expert role reported by interview participants. A large proportion of caregivers described having to acquire knowledge about the disease and about care options. This expertise emerges primarily through experience and through networks such as the German Society for Muscular Dystrophy or a similar organization.

But, as I said, hardly anyone knows anything about this. We’ve become SMA experts ourselves.

We now know that if a child has SMA and an infection, then he or she must in fact be ventilated. We did not know that at the beginning. It is all such a chain of events. Yes – now we’ve become smarter and know everything. But we didn’t know that at the time.

And above all, we parents managed to get organized in SMA Germany, in the German Society for Muscular Dystrophy. And we actually meet every year, also with the doctors. There we get information; you network very, very strongly with other parents and with the doctors who are there for the meeting. After that you’re on your own, and have to see that your child ultimately gets the right therapy.

Coordination structure

This code describes the importance of mechanisms explicitly designed to coordinate care for patients with SMA. We have divided it into (a) the description and evaluation of already existing coordination mechanisms as well as (b) the perceived need for new coordination mechanisms.

Existing coordination mechanisms

We used this sub-code for a caregiver-driven description and evaluation of the existing care coordination mechanisms of activities between the involved care network’s actors. These were both one-time and continuous coordination mechanisms. The largest component within this sub-code is the coordination of appointments. In this context, caregivers also reported on existing support in the coordination and organization of care (e.g. “aid consultation” at the SPC, assumption of tasks by the home care service). Some participants described the availability of an existing, ongoing point of contact (e.g., social services within the hospital) which coordinated appointments within the hospital.

It’s an enormous relief for me that Mrs. W. organizes all the appointments. For example, if I say, next time I’d like to talk to the orthopedist; or three months before the appointment I say, we’re having stomach problems – then she organizes the appointments. I don’t have to call each doctor and ask for an appointment. If I need accommodation at the parents' residence at the neuromuscular center, she does that too. All we really need to do is say beforehand what the problems are, and she organizes everything for the next appointment.

Especially for aids – they have an employee who’s solely responsible for aids at the entire early intervention center. And she’s always there.

The second major component within this sub-code is the description of structural links between healthcare professionals that enabled prompt coordination in the care network. In this context, caregivers reported on “connections” between healthcare professionals that facilitated, for example, enrollment in a hardship program or enabled home visits by a care provider. Only a few caregivers reported direct exchanges between care institutions.

The neuropediatrician then confirmed it was SMA. And we told him that we already had an appointment in the neuromuscular center, so he then used his connections and had us register for this hardship program, because at that time the drug had not yet been officially approved.

I’d say that the only therapist who thinks and cooperates a bit more is the therapist at the kindergarten. For example, she provided us with contacts for therapists who come to our home.

The SPC made an appointment at the neuromuscular center for us. We came here after one month or even sooner for consultation. Then everything went really fast.

In some cases, this SPC already sends the prescriptions to the medical supply store. And the medical supply store then also submits them to the health insurance company.

L. needed a suction device when he was sick, and the pediatrician's office quickly clarified everything with the neuromuscular center. We got a prescription quickly, and the suction device arrived promptly.

The last, less frequently mentioned component within the existing coordination mechanisms are linear, one-way information channels regarding SMA (e.g. a newsletter via e-mail). These serve to coordinate care primarily by bringing up previously unknown care options.

And then there are various aid organizations and an SMA forum that regularly distribute news tickers by e-mail. And when you see how things look with the drug pipeline, the drug development phases, that’s quite helpful.

Perceived coordination needs

This sub-code includes mechanisms perceived as necessary to coordinate care activities among the involved care network’s actors [1]. Many interviewees reported needing support or relief in (repeated) contact with individual care institutions or the health insurance company, e.g. to apply for aids, to establish a care network after diagnosis, or to coordinate appointments at the neuromuscular center. In this context, they mentioned the need for an “interface”/”bridge function” in the care network, as well as for care continuity [16, 24]. For better coordination, caregivers would like to have a designated contact person with medical expertise who supports them in medical discussions. Furthermore, they asked for professional exchange within the care network concerning their child’s care.

Right after the diagnosis, when we were in F. for the first time, we knew very little about this disease. It might have been nice to simply provide information about this disease, what can happen, for example, that SMA children suffer more frequently from scoliosis, what the next steps are, how to proceed, what to do about certain things. For example, if the children are sick, that there’s something special to inhale. Just preventive things. We really missed getting such information. Instead, we got it all from our WhatsApp group.

If only there were someone I could always call and say: Mrs. or Mr. so-and-so, my child needs orthotics. That somebody will take care of that, that they’ll find the perfect company to take care of it – so that we don’t always have to wait 2–3 months until something gets done!

And that actually means two nights, two full days [inpatient stay at neuromuscular center]. What’s the other parent supposed to do? Where can you stay overnight? Where can you park? Are we entitled to any travel expenses? Being given a few tips would be great.

Maybe they could complement each other better – especially the occupational therapist who’s responsible for fine motor skills, and the physiotherapist makes sure that there are no contractures. If they exchanged more information, that would be even more effective.

It ‘s important to us that care distances be kept short. That I’m able ideally to combine appointments, where we can consult two or three doctors at the same time – that there’s close coordination, especially between orthopedics and neuropediatrics, as neuropediatricians are well informed about SMA, and orthopedists with the skeleton. We have not yet witnessed much cooperation between these two specialties. […] In orthopedics they always focus on orthopedic factors, and that’s it basically.

It would’ve been ideal had there been a single person who got to know L. from the beginning. That there’s one person with whom you exchange a lot and really trust. That there’s such a person who has an overview, knows what certain abilities L. has, how L. must be reclined.

A few interviewees reported a need for more uniform standards of care. In this regard, caregivers would like to see coherent care recommendations from the healthcare professionals involved. One person mentioned the possibility of bundling information, e.g., a comprehensive reference book for SMA including socio-legal aspects.

There is a lot of information you have to gather yourself. I’m involved with the patient advocacy organization and I don’t know of any document that contains everything you need to know. I mean, there are of course brochures, but there’s no checklist or guide in it: home healthcare check, degree of disability and so on. That would certainly be helpful at the beginning. Even if something like that exists, the question is whether it has been distributed or you still have to find the info yourself.

I have the impression, especially in the area of SMA, that there’s no guideline to follow somewhere, where one exchanges information from one orthopedist to another orthopedist. I think too much is done individually. I think that we should nevertheless more … not standardize, but we could learn more from each other.

Information exchange

This code describes the (non-)existing active, communicative and mutual exchange of information, ideas and opinions between the actors in the care network [1]. We distinguished three different sub-codes: (a) information exchange between caregivers and HCPs, (b) information exchange between caregivers, (c) (perceived) information exchange between HCPs.

Information exchange between caregivers and HCP

A large proportion of caregivers interviewed reported regular (or irregular) joint discussion of care options with healthcare professionals involved. These discussions included, on the one hand, care recommendations made by healthcare professionals. On the other hand, caregivers presented information to the healthcare professionals that they had obtained, for example, through previous exchanges with other affected persons on SMA-specific platforms.

The exchange between the ward and intensive care unit worked well. In some cases there were round tables where we sat with I think five different senior physicians and therapists. Everyone was actually called in on a regular basis.

The wheelchair base is a standard frame and the seat shell on top is a special construction. The orthopedic technician got in touch with the wheelchair undercarriage builder and very often consulted with us and checked everything to make sure things were done properly.

We had situations where we had a hygiene problem […]. We didn’t want to leave the intensive care unit because things had happened in the normal ward that we did not feel were safe for A. The staff understood immediately, we met with the nursing management, with all kinds of people. We spoke openly about the incident so that everyone was on the same page.

Many interviewees reported perceiving inconsistency or uncertainty in care recommendations from various healthcare professionals.

There are differing opinions among different people. My child has problems with her hip. That means I have to sit down with four different doctors. One says this and the other says that. I don’t know myself what’s right or wrong.

We heard on the one hand the opinion that surgery was needed, whereas the other doctor said, as long as there’s no pain, we don’t need surgery. So we thought about it – how do we assess this situation now as parents? Which way do you go?

If you get the impression that a certain treatment did not go optimally or an aid doesn’t fit exactly, well, you’ll never get such a clear opinion from the experts: that’s bad and this is better. That’s more likely to come from other parents. But experts never confirm such information.

I took my child to the speech therapist and she gave me some tips because I had been so worried about my child’s eating, about swallowing. She said she thought we should thicken the drink. Then we had an appointment in the neuromuscular center with their speech therapist, and she said that it’s just the opposite, because the more you thicken it, the harder it is to swallow.

In exchanging information, many caregivers emphasized the desire to be more involved in certain care processes (e.g., in debates about the approval of new drug therapy, production of individual aids).

I think that you don’t get too little support, but too little info. Because of new medications, for example; that you don’t get enough information. That you also have to pursue it a bit […].

The interaction is not yet that clear to us. For example, with our daughter's corset: It was supposed to have a special corset shape. They said: “Your daughter won’t like it; she has to wear it 24 h a day.” Then we went to the orthopedic technician, and he said, “Not a corset like that after all, we’ll get another one, we’ll talk to orthopedics again.” Then suddenly something else came up, so it all passed us by without us ever getting the feeling we were involved or that we were being properly informed.

So I think it’s important that we as parents are talked to and that we stay in touch, because otherwise information gets stuck somewhere. As a parent I also want to stay in the conversation and be able to contribute to a better result.

Information exchange between caregivers

This sub-code includes two major areas. First, the interviewees reported an information exchange regarding care which concerned care options, the quality of care institutions, secondary diseases, news in the field of SMA, etc. Furthermore, there was an exchange regarding daily life as well as the burdens associated with SMA. Many caregivers described mutual emotional support among affected families.

Channels of exchange included self-help groups or larger associations (e.g., conferences by the German Society for Muscular Dystrophy) and digital platforms (e.g., WhatsApp, Facebook) that ensure dynamic, two-way exchange among caregivers.

I tried to talk to other parents to find out what they do with their kids, what everyday life is actually like.

We can learn more from each other and by that I mean it’s actually the parents among themselves: “Oh, I saw a great corset there!” “Oh, I went to rehab there and it was great for my kid!” The private, personal network – that’s actually how you get very far as well.

I’d become so desperate, and I turned to other mothers who, for example via Facebook, went public with their children, and they then helped me. Without such networks, we’d have gone under, because we’d never heard of a therapy chair or which aids are available at all.

And also the practical, everyday things – a lot comes from other families that you can’t get directly from the doctors or nurses because they’re not involved in your everyday life. That’s a very big part of the work – that you talk to other affected people and research everything yourself.

We’re always very happy when the information exchange takes place in M. This is done by the German Society for Muscular Dystrophy, and is sponsored by a large health insurance company in Germany. We soak up so much information in all the lectures over those two days. That’s actually the most important thing for us.

(Perceived) information exchange between HCP

The interviewees reported a heterogeneous pattern regarding perceived information exchange among healthcare professionals. In some cases, caregivers reported a lack of collaboration among healthcare professionals from different disciplines involved in care. According to the caregivers interviewed, there should be recurring information exchanges and coordination on health status in terms of interdisciplinary care planning. Existing structural connections between the actors in the care network (including those in local proximity) would facilitate this exchange.

That’s actually our major problem [the lack of communication between professionals]. Everyone does their own thing. We have no network. We pull strings everywhere, but somehow, nothing comes of it.

The communication between therapists and doctors and with us doesn’t really happen because here, we’ve only got locally our pediatrician, and she has no SMA expertise. […] If we’re worried about his physical condition, we contact the neuromuscular center beforehand and they examine him. But there’s is no exchange with our physiotherapist.

In general, we think a bit more exchange between therapists would be beneficial. Because if things come up linguistically in speech therapy, the other therapists can somehow take them into consideration. It would certainly be better if something like that were standard – that they somehow short-circuit each other every six months with the start of treatment and then perhaps once, twice a year […].

There are relatively short distances to get to physiotherapy and occupational therapy – they know each other. They’ve agreed that one will focus on fine motor skills, hands, and the upper body, while the other will concentrate more on sitting, walking, and working on the muscles in this area. They’re also coordinated, they also have a short commute, and they telephone. They also send brief reports to our family doctor so that he can issue a new prescription.

Many respondents described the need for sharing caregivers' information with healthcare professionals within the care network. According to the participants interviewed, healthcare professionals should pass on information that falls outside the scope of their discipline so that caregivers need not repeat it during further consultations.

The physiotherapist from the SPC said that she knows Mr. W. from the medical supply store, and she will call him and tell him about the shoes. That makes it easier, as the experts can talk to each other. But that’s an exception, I’d say.

I have to call the physiotherapist and ask if she’ll take care of it. Then I’ve got to call the health insurance company back. Then I’ve got to search for a company that will take care of it. I have to take everything into my own hands.

I told our pediatrician that I was worried he was gaining too much weight. Then he immediately contacted the neuromuscular center, and the nutritional counselor came, so the coordination and understanding have been great.

From what I’ve seen so far, there’s no direct communication between our local colleagues on site and those in the neuromuscular center. We bring the information from there and give it to our local doctors, or vice versa.

A few respondents cited the digital SMA registry, including the SMArtCARE database [25], as a helpful element. These platforms collect recorded SMA-specific and make it accessible to healthcare professionals and those affected.

In this portal, hospitals can access each other's therapy status. All the key data for Spinraza and therapies are stored there. And the hospitals can access it […] to see what the status quo of the children is.

Role distribution in care coordination

There are different roles reflecting varying coordinating responsibilities within an SMA patient’s care network. This code describes the caregivers' perception of these roles. This entails the attribution of responsibilities and tasks by caregivers to healthcare professionals, in the sense of “Who do I need for what?”; “Who is responsible for what and who should take over what?”. Respondents also described their own role in the care network. Overall, we divided the code into five sub-codes according to the most frequently mentioned actors within the care network: (a) role of the pediatrician, (b) the neuromuscular center’s role, (c) the role of local care providers, (d) role of SPC/early intervention center, and finally the (e) caregivers’ role.

Role of pediatrician

Since primary care is largely provided by pediatricians working in private practice, the pediatrician plays a key role. The pediatrician often serves as the first point of contact (especially at the time of diagnosis). However, the caregivers interviewed attributed various roles to their pediatricians: they can be divided into two components with potentially different effects on care coordination: First, approximately half of the caregivers interviewed described their pediatrician as a rather passive component in their child’s care. Because of their limited expertise, they would not rely on their pediatrician for SMA-specific questions, but would consult him/her mainly for acute infections (similar to healthy children). Some interview participants also described their pediatrician’s deliberate reticence on SMA-related issues, knowing that the neuromuscular center with more expertise was available. A few respondents reported their pediatrician as a sometimes delaying component in their care coordination.

The pediatrician just signs the prescriptions I need. Apart from that, for example, the cardiologist called him to ask why he was sending S. for a cardiological check-up. He answered: “I don’t know”. I think to myself, "Didn't you even read your doctor's notes? My child had a hole in her heart when she was born. She had to be checked every six months because of her ventilation situation. So when it’s up to me to inform my pediatrician about what's going on… I can’t help but think – this can’t be true!

When the child is born and the first abnormalities are noticed in comparison to another child's development… That’s always played down, you’re portrayed a bit as a helicopter parent, but we should rely on the doctors and are told: “There’s nothing wrong.” Until you actually reach the point where things have become so drastic that not even the worst doctor in the village can ignore her symptoms.

The second half of the interviewed participants perceived the pediatrician as a supportive component in care coordination. They described the pediatrician as a suitable contact thanks to being close by. A small proportion of caregivers reported that the pediatrician accommodated them, e.g., by issuing prescriptions, shortening waiting times, or making house calls.

We have a good pediatrician who always helps me with everyday things. I think she’s the first point of contact.

Otherwise, the pediatrician is a great help to us because we call and say that we need a prescription for XY and he’ll say: “Come and pick it up tomorrow.” So that works very well, we're very satisfied.

I can talk openly with him about everything. Appointments are always made with less waiting time for D. and me. Sometimes I call back and ask how busy they are and he tells me: “Mrs. Z., you can come a little later.

Role of neuromuscular center

Neuromuscular centers provide expert diagnosis and care for neuromuscular diseases, including SMA. They usually comprise neurologists or neuropediatricians who work in an interdisciplinary collaboration with cardiologists, pulmonologists, orthopedists, rheumatologists, physical therapists, and social counselors. Thanks to their high level of expertise in SMA, most caregivers interviewed described the neuromuscular center as their main point of contact within their child's care.

When it comes to SMA, only the neuromuscular center is my contact.

When it comes to specific SMA information, the neuromuscular center is the place to go because they are simply the best informed. They know the disease and its course and the research.

Because the neuromuscular center is usually a larger (university) hospital, the caregivers interviewed described associated advantages and disadvantages. Thanks to many highly specialized departments, SMA patients undergo comprehensive care in neuromuscular centers. At the same time, because of the sheer size of (university) hospitals, caregivers feared inadequate monitoring of their child's health status and care needs. A few caregivers reported inadequate information because of confusion about who is responsible for what. According to the participants interviewed, this had a negative impact on care coordination.

That is what the doctors wanted, and it also suited us very well that you do not just give the medication, but also look at everything and have all the care in one hospital. Since then, things have been going quite well. We also do not see the need to change.

My nursing service was also upset and said: "That can't be real. We wrote down the points for them. We specifically told them to look for those. Why didn't they [the team of the neuromuscular center] do it?” Time is the problematic thing. They can't sort it out or coordinate it properly.

Role of local care providers

This code summarizes the role played by local care providers. This includes all healthcare professionals involved in the supportive care of patients with SMA (e.g., physical therapy, occupational therapy, speech therapy, home care services, medical supply store/orthopedic technology, local hospitals). The keyword “local” refers to the proximity of the care providers to the homes of patients and their families. Because of local proximity and the resulting recurring (weekly) contact, a large proportion of caregivers interviewed described local care providers as “constant helpers” during the disease. The local care providers' continuously updated knowledge of the child's health status made them a beneficial component of care coordination. Many of the participants interviewed reported discussing appropriate therapies or aids together. A few interviewees reported feeling relieved by having to engage in fewer coordinational activities (e.g., phone calls to the health insurance company). Overall, according to most interviewees, local care providers filled the role of linking the neuromuscular center to the families. They conduct detailed reporting of inpatient stays and assist the caregivers in communicating with healthcare providers through their medical expertise.

Our physiotherapist has been with us from the very beginning. She’s known us for three years now, so she’s known S. since she was six months old. I’d say she’s been with us through thick and thin.

The local therapists help us when we need aids. That’s very important.

Sometimes they [the nursing service] take things off my hands by simply making a quick phone call to the pediatrician if it’s about prescriptions or whatever.

We’ve got a very good medical supply store. We actually test everything in advance and if we get along with things well, I only have to get a prescription, submit it to them and they take care of everything else. They are also very competent.

The therapists who see her every week probably notice almost as much as I do. They’re more involved in everyday life than doctors or specialists.

However, a few caregivers interviewed described the medical supply store in particular as a potential delaying factor within care coordination (e.g., because of manufacturing necessary aids inadequately or too late).

Unfortunately, there are too few good medical supply stores – people who are really motivated and put their heart into helping the children. Sometimes you also need to use your imagination and a bit of fiddling around. You have to think a bit about the children and exchange ideas with caregivers.

We got a prescription for an adapted seat shell. We went to a medical supply store in our area and our daughter was measured. Then nothing happened for a month. I called them once: They still had nothing from the health insurance company. A few days later, the health insurance told me that they’d only gotten the request after I’d reminded the medical supply store. Suddenly the seat shell became a therapy chair. I called the medical supply store and they told me was the same thing. They then delivered a therapy chair without competent personnel who’d have been able to adjust it. Two weeks later the technician returned and found that the therapy chair was too big for our daughter.

Role of SPC/early intervention center

Interdisciplinary social pediatric centers (SPC) provide care to children and adolescents with developmental disabilities and chronic conditions through diagnostic and/or therapeutic services. Early intervention centers are facilities providing education and/or medical-therapeutic assistance (usually including special therapies such as occupational therapy, physiotherapy, speech therapy, etc.) to children with disabilities during the first years of life. This code summarizes the role of both institutions since the caregivers interviewed associate the SPC and early intervention center with similar areas of responsibility in their children’s care context.

According to most of the caregivers we interviewed, both institutions served as contacts in establishing a local care network. They knew good local care providers near the caregivers' homes and could make recommendations regarding specialists for further treatment. Similar to local care providers, they relieved caregivers of coordinative tasks (e.g., taking over correspondence with the health insurance company; consultation about assisting devices). In particular, the SPC also provided a continuous point of contact for SMA-specific issues, as the neuromuscular center would often be harder to reach.

This SPC sends some of the prescriptions to the medical supply store in advance.

For aids, we do everything through the early intervention center. They have tried different medical supply stores in the area and know which one is the best. They have an employee who only takes care of aids for the entire early intervention center. And she's always there.

We go to the SPC once a quarter for consultation on medical aids. They simply check: What is E’s current care level? For example, we got a corset a while ago. They check regularly: Does it still fit or need to be adjusted? Does a new one have to be prescribed? Of course, we can always start asking questions: Can we have care extended in general? For example, with a wheelchair or therapy chair for the home. About every six months, the SPC conducts a pediatric orthopedic consultation where someone from a hospital in Stuttgart comes and examines E’s bone structure and muscular development in general.

Furthermore, a few respondents reported getting assistance from both institutions in terms of strengthening their disease management by, for example, assisting caregivers with therapy delivery at home or offering psychological support.

The early intervention center is quite all right, the therapist was kind and showed me many things, how to deal with the D., how I can still do gymnastics with him at home, physio and stretching. He showed me everything.

Role of caregivers

Caregivers play a significant role in the care coordination of their children with chronic conditions. All interview participants reported that they had an all-round perspective of their child's health. According to the caregivers we interviewed, this was associated with the coordination and organization of care that they sometimes managed exclusively on their own. By constantly monitoring their child’s health status, caregivers immediately notice changes. The interviewed participants made it clear to us that it was their responsibility to make the healthcare professionals aware of certain conditions. They reported acting as an information carrier, passing information between members of the care network.

The flow of information has to take place somewhere and it always runs through us caregivers. When we’re in the hospital, we carry the information to the physios, to the medical supply store, to the nursing service. When A.'s disease state changed again or medications changed, I had to inform every single person.

I also have the feeling that as caregivers you have to see through everything and always know what to expect. The doctors also help, but even with ventilation control … I said, “I think the mask is already too small,” and then the doctors looked and found out: “Yes, unfortunately it is too small.” Had I not brought that up, it might not have been noticed so quickly. I believe that the caregivers see the children every day and notice everything much earlier than the experts, who only see the children on one day for an hour. The caregivers handle a lot on their own and observe themselves, and organize.

We often serve as the carrier of information, i.e. we carry the information from the physiotherapist to the orthopedist, from the orthopedist to the occupational therapist and to the SPC.

It all goes through us as a central intersection. That means my wife coordinates everything that comes into the house during the day. Everything that needs to be coordinated in the long term, I coordinate on the phone.

The caregivers are always asked how they see things, how they assess things; they’re already a bit of an expert.

According to all respondents, a significant component of the caregivers' role was to autonomously research and organize care options. They did this primarily through the Internet, rehab- or SMA-specific events, and exchanges with other affected individuals. They reported evaluating care options they found, as well as seeking (second) opinions from healthcare professionals.

I organize everything so that he has school support, coordinate appointments, send doctor's letters back or take to the examination that everything is available.

In the beginning we also had infections; with many hospital stays … We were unsure and did not have a cough assistant or a Pari Boy. These are all things we acquired ourselves. We sat down with other affected caregivers and they told us: “You need this and that.” There was nothing from the medical side. So we finally took care of things ourselves.

The doctor at the SPC knew what the disease was. What he did not know, because at that time it was still part of the hardship program, was what treatment options were available. We simply looked around on the Internet again: Who’s a specialist in this field, and what drug pipeline is there? That does lead to the goal, but it’s an insane search process, because you have to separate sense from nonsense very intensively.

We go to trade fairs ourselves. We go to the REHAB or the REHACARE. We go to professional lectures. We go to the SMA meeting once a year. We are affiliated with the German Society for Muscular Dystrophy. We are connected to the SMA initiative and to the children's hospice. We more or less have to provide the information. That rests on our shoulders. That's more or less our responsibility.

In addition, a large proportion of caregivers described a generalized “keeping the ball rolling” to obtain certain care services (e.g., recurring phone calls to care institutions).

We’re getting a new car seat. The approval for it came a long time ago, but no one informed me. Or like with our rehab buggy: please check whether we can get drum brakes for it, how much they cost, whether you should pay for them yourself or submit a request for them from the health insurance provider. […] I got no feedback on that either. You have to keep calling.

When the news came out that a drug was being delivered, we had to call the hospital four times to hear anything about it. It took four calls until the doctor finally called back.

That is a lot of phone calls. The diapers alone needed ten phone calls with the providers and health insurance until that went smoothly. It works relatively well when it’s rehearsed, but any new application is sheer horror. I spend about two hours a day on the phone alone for S.

Quality of relationship

Under this code, we subsume statements regarding the quality of the relationship between the healthcare professionals and the family as perceived by the caregivers [