Table 4 Theme 1: CRD caregivers’ experiences with the healthcare system.

Diagnostic odyssey

Q1: The most difficult thing is the doctors' lack of interest in my son’s symptoms—after the diagnosis, they are all thrown into a syndrome and no one wants to carry out further diagnostics. (mother, 37)

Q2: Currently, doctors refer most sick children with neuro-developmental disorders for an autism diagnosis in order to get them out of the system and not conduct further diagnostics because it is expensive. A child diagnosed with autism has practically no chance of being diagnosed on the National Health Fund (National Health Service), every symptom of the disease is attributed to ASD. I experienced this twice with my children. (mother, 36)

Q3: Doctors prolong everything very much, instead of doing comprehensive WES tests from birth when something is necessary, they are looking in the dark for “What else to come up with?” We are currently waiting for Sotos’ tests, but these are repeated tests because he has already had them done once in this direction, and nothing came of it. We have already had SMA, Prader-Willi and Angelman tests done. (mother, 28)

Q4: We have already wasted too much time in waiting for the diagnosis, passed from physician to physician, where the professor threw up her hands and refused to listen to our doubts (…) We learned the diagnosis by accident, (…) I don’t know what would have happened to this day if it weren’t for the conversation with a stranger who recommended a doctor. There’s a very good chance that we would have visited a few more doctors and our child still wouldn’t be diagnosed. (mother, 32)

Q5: The diagnostic process is one of the worst and most traumatic aspects of the child’s disease, because, as parents, we act intuitively, blindly and often make a lot of mistakes. We don’t have the basic knowledge of where to go or what documents are needed. (mother, 36)

Therapeutic odyssey

Q6: If you don’t look hard, you won’t find any help for your child. You are alone with everything. No doctor I ever met wanted to be an attending physician. (mother, 35)

Q7: In my area, no one undertook my son’s medical care, so we have to use private medical care (neurologist). (mother, 41)

Q8: We have been trying to get a diagnosis our son for three years. Doctors don’t listen, they refuse, they take money and don’t refer us any further. Now we have to educate ourselves, look for publications, other parents and children, and demand help or even “specific prescriptions” from doctors. They are not interested in our children, there is no help from anywhere, they do not believe me as a mother when I describe the symptoms. It is a terrible mental and physical burden for the whole family. (mother, 33)

Lack of specialist care

Q9: Currently, the biggest problems are difficult access to specialists: long queues to specialist doctors and reimbursed rehabilitation. (father, 38)

Q10: Our health service and family doctors are a failure, whatever you can’t do privately, you won’t be able to do at all, or after a year of running around and having to worry about it. For a child psychologist or psychiatrist you have to travel at least 200 km. (mother, 34)

Q11: There are no specialists for rare diseases. Only symptomatic treatment. (mother, 39)

Lack of integrated care/holistic approach

Q12: There is no holistic approach towards the patients and their caregivers, where many specialists work on one patient and communicate with each other, all having access to the same data/database, including psychologists, physiotherapists and other specialists. In Poland this rarely happens and the caregiver/parent must often repeat information and may omit or forget to whom they gave what. (mother, 36)

Q13: There is no comprehensive approach, we sign up for each specialist separately and it is not entirely clear which specialists we actually need to see. (father, 41)

Q14: Children sometimes have several diseases and parents need to go to several specialists/clinicians. (mother, 43)

Cross-border health care

Q15: They do not consult each other; they do not send cases abroad. (mother, 41)

Q16: In Poland physicians refused to treat us, they did not perform genetic tests, they provided no instructions, they only said that the child would die anyway after 2 months. There was no empathy, no support, no willingness to help—they threw up their hands. In Germany, 10 days after arrival (right away), we already had the results. It was not only the lack of opportunities, because this ties their hands, but above all their giving in and refusing to look further. (mother, 28)

Q17: Virtually nothing is known about our disease. It was first described in 2020. I obtained information from doctors from Germany who described it, so far the knowledge is limited and they are still looking for patients with this gene. (mother, 38)

Q18: My son is not under the care of any doctor in Poland. We get all our knowledge about his disease from a doctor from Italy, whom I found on the Internet based on his publications. (mother, 30)

Lack of psychological support for CRD parents

Q19: When a parent receives a diagnosis of his or her child’s disease, he or she is left alone to deal with it all. At this point, he or she cannot count on any support from a psychologist because there is no such person in the hospital. (mother, 42)

Q20: Unfortunately, after the diagnosis was made none of the medical personnel offered psychological us, the parents, or our son support. (mother, 47)

Q21: Lack of psychological care and support for parents (…) Actually, no one asked me about it. I received no information about where I could look for support groups. Thanks to the Internet, it may not be difficult to find it yourself, but the fact is that no one mentioned it (father, 38)

Q22: As a family we feel alone, completely alone. There is no support for parents… Psychological support for caregivers of disabled children is very poor, almost non-existent. I have been going privately for 5 years, the visits cost PLN 150 and should be covered by the National Health Fund (National Health Service). Since AA therapy is covered by the National Health Fund, the children's parents should be covered even more. (mother, 49)

Doctors’ ignorance regarding RDs

Q23: I am terrified by the lack of knowledge among the doctors I have contact with about diseases and such a total lack of understanding of the medical needs of children resulting from their disease. (mother, 43)

Q24: Paediatricians very often have no idea or knowledge about the diseases our children struggle with. It is the parents who explain to the physicians what kind of disease is and how it is treated. Perhaps this is due to the fact that physicians in small towns acquire no new knowledge at all and rely on what they learned ‘centuries’ ago. I once heard a doctor say: “it's your problem that you have a sick child”. (mother, 42)

Q25: Primary care doctors have no idea where to refer patients, like in hospitals and medical staff (midwives, nurses) (…) most people wonder if they can touch her, and what to prescribe, I have to know (…) Many people, including specialists, are afraid of us, we often have no main doctor. The entire responsibility for treatment rests with the parents. (mother, 33)

Q26: If it weren’t our parental instinct and the huge amounts of money spent on private genetic testing, we would never have found out about our son’s rare disease. No doctor even thought to check anything on my son. (mother, 39)

Lack of communication with physicians

Q27: I also notice that doctors are very formal during conversations. It’s the way they converse, for example it goes like this: “Well, there is no doubt that your son suffers from such a disease, his condition is currently good, you have recommendations in the discharge letter.” I have the impression that I am talking to robots (…) I would expect a calm conversation would be possible, where the doctor would have time to sit down and talk clearly, without going into medical jargon when it is not required. (father, 38)

Q28: Doctors often only answer the questions asked, while I personally don’t always know what to actually ask. Parents receive a lot of information that they cannot process, understand or analyse on their own. (mother, 38)

Q29: Doctors do not provide full consultations regarding treatment and rehabilitation, you have to look for everything yourself (father, 34)

Doctors’ attitudes: paternalism

Q30: Most often, a visit under the National Health Fund looks like this: doctors do not fully pay attention to parents because they know better, believing that they are doctors and know best. (mother, 31)

Q31: Doctors do not listen to the parents because they are right and they graduated from medical school, not the parent, where unfortunately in our case it is always me as the mother who was right and then a stupid explanation and no one admits to the mistake. (mother, 35)

Q32: Until my daughter received the diagnosis, for 11 years I was treated like a madwoman who had invented everything (…) But for 11 years we were not taken seriously, specialists repeatedly crossed boundaries and violated m child’s comfort, causing trauma and problems with further diagnostics. (mother, 42)

Q33: As a caregiver of a child with PKU, I am often treated as an overprotective person. (mother, 37)

Lack of empathy in doctors

Q34: Doctors and nurses lack empathy, understanding and basic knowledge about my daughter’s disease. We were kicked out of the doctor’s surgery and refused help in casualty just because my mentally disabled child screamed in fear and annoyed the doctors and nurses (mother, 38)

Q35: We are left alone. We only have a Facebook group. Parents from all over the world. (…) There is no support for parents, I am often ignored or picked on because the doctor does not see the problem and the child’s condition getting worse. (mother, 42)

Q36: Parents are left alone to deal with their children’s disease (…) Nobody is interested in caregivers, none of the doctors, whether we can do it or whether we are able to do… we are very often alone. (mother, 42)

Needs

Psychological/emotional support for RD parents

Q37: There should be psychological support for families with sick children. (…) Access to psychological counselling immediately upon diagnosis for parents/caregivers. (mother, 52)

Q38: What we miss most is the support of a psychologist after diagnosis. (mother, 46)

Q39: I believe that after receiving information about the child’s diseases, the family should be provided with immediate psychological help. When a child is sick, the whole family is sick. (mother, 43)

Information on RDs

Q40: Better access to materials and knowledge. (mother, 30)

Q41: There should be courses for caregivers of disabled children. (mother, 43)

Q42: No information for the family about what help is available to them, how PFRoN [State Fund for the Rehabilitation of the Disabled] works, etc. We have to “fight” for everything ourselves, find time to learn, read—we have more knowledge than doctors and rehabilitation therapists. (mother, 35)

Improved diagnostics

Q43: With such a small child, making a diagnosis should be a priority. (mother, 28)

Q44: Genetic tests performed such as WES, NGS, microarrays, metabolic tests. Before the parent learns about the disease, unfortunately, he or she has to cover a lot of the costs himself. (mother, 34)

Q45: There are few doctors who can accurately diagnose and treat Dravet syndrome. It is difficult to get a referral to a hospital for diagnostic tests at the beginning of the disease. No refunds for genetic tests. (mother, 30)

Co-ordinated care

Q46: Co-operation between specialists—how to proceed holistically, how to support the development of a child with a rare disease. As parents, we usually look for information on our own, wasting valuable time at the start, because then it is too late. (mother, 36)

Q47: Rare disease centres are not focused on rare disease co-ordination. Here is the quotation “after diagnosis, the child’s co-ordinator is the parent.” As a parent without medical or therapeutic training, this is very burdensome. (mother, 32)

Q48: Due to my profession as a doctor, I have other options for access to specialist colleagues than using the National Health Fund (National Health) and private visits. Often these are friendly courtesy. I am my child’s attending physician, and I co-ordinate everything myself. I know from experience that there are no such co-ordinators for sick people. The lack of someone who thinks about everything that might happen in the team, a rare disease and will control and supervise the patient, etc. But will also think about parents and caregivers. (mother, 40)

Access to innovative therapies

Q49: We are waiting for gene therapy and look to the future with hope. (mother, 35)

Q50: Not blocking access to experimental therapies, e.g. mesenchymal stem cell therapies, we paid for it ourselves and suddenly it is taken away from us without asking our opinion and it is decided that it does not help even though there are positive effects. (mother, 41)