| Brown TM, Martin S, Fehnel SE, Deal LS. Development of the impact of juvenile metachromatic leukodystrophy on physical activities scale. J Patient Rep Outcomes. 2018;2(1):15 30 | |
| Finding 1 | Control bowel and/or bladder (U) |
| Illustration | By the end of grade 2, he was wearing diapers full-time because he was having accidents all the time(P.5) (from caregiver) |
| Finding 2 | Walk and/or stand (U) |
| Illustration | She walked with a walker for a very short time. So between 3, 4 months later, she quit [walking] altogether.(P.5) (from caregiver) |
| Finding 3 | Go up and down stairs (U) |
| Illustration | Stumbling on stairs—and it’s usually going up the stairs. And she used to joke, ‘Oh, I’m being blonde. I’m tripping up [the] stairs. Ha, ha, ha.’ It was always a joke. But now I notice it at least five times a week.(P.5) (from caregiver) |
| Finding 4 | Swallow/swallow without choking (U) |
| Illustration | She started choking on liquids because she couldn’t swallow very well.(P.5) (from caregiver) |
| Finding 5 | Use hand to reach, grab, or hold an object (U) |
| Illustration | She would pick stuff up or like try to help and get maybe a couple feet and … she wouldn’t have the grip or strength. And she would drop it.(P.5) (from caregiver) |
| Finding 6 | Control head and trunk (U) |
| Illustration | Then in grade 2, he lost upper body control, he started falling over in the booster seat. So we’d go around a turn and he’d fall over. So, we had to put him back into a car seat.(P.5) (from caregiver) |
| Eichler FS, Cox TM, Crombez E, Dali C, Kohlschütter A. Metachromatic leukodystrophy: an assessment of disease burden. J Child Neurol. 2016; 31(13):1457-63 13 | |
| Finding 1 | Diagnostic process (U) |
| Illustration | [the physician] did not know much about MLD at all …. She brought out, like, her medical book, and … opened it up to … metachromatic leukodystrophy and … read it to us. So, we really didn’t get a good idea of what we were facing(P.1459) (from caregiver) |
| Finding 2 | Impact of the disease on caregivers and their families (C) |
| Illustration | showing up on time … completing assignments … or maintaining a job(P.1461) (from caregiver) |
| Eichler F, Sevin C, Barth M, Pang F, Howie K, Walz M, et al. Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy. Orphanet J Rare Dis. 2022;17(1):1-19 31 | |
| Finding 1 | Observed changes in daily activities (U) |
| Illustration | In first grade, he was top of his class in whatever they were teaching him in math, top of his class… Third grade, just all of a sudden, he couldn’t add.(supplementary data) (from caregiver) |
| Finding 2 | Peer comparisons (U) |
| Illustration | As time went on, each milestone seemed to take longer for her to achieve and the gaps were getting bigger between normal children her age and between what they could do physically and what she could do physically.(supplementary data) (from caregiver) |
| Finding 3 | Referral pathways during initial medical consults (U) |
| Illustration | The doctor sent us to an endocrine doctor, which told us, “Have him drink more milk. He’s just on the slower scale. He’s just got developmental and cognitive delays.” So, time went past and… we kept seeing more problems, like with motor skills. He was real clumsy, things like that. So, I went into the doctor’s office since it was a new doctor and laid down the medical records…He reviewed the notes and we started from there, going through even allergy specialists, you name it. It took us, it seemed forever, to get into neurology.(supplementary data) (from caregiver) |
| Finding 4 | Caregiver perceptions (U) |
| Illustration | She developed a small tremor in her hands when she would reach for things. And for me, my parent radar went off and I just felt like something was going on, so I sought a new pediatrician who would listen to my concerns.(supplementary data) (from caregiver) |
| Finding 5 | Caregiver advocacy for their child (U) |
| Illustration | So first, we went to the midwife and she said just to wait a bit longer. And then we went to the doctors and asked for a referral to see a physiotherapist. We eventually got a referral. And then the physiotherapist said that she had hypermobility syndrome…and the physio decided there was no treatment needed. And then I decided to pay for a private physio because I wasn’t happy with what the NHS physio said. I didn’t think it was quite right… then she started having physiotherapy through the NHS because they accepted that she was late walking… And then in the end, I still wasn’t happy. I thought there wasn’t something quite right because she still wasn’t walking. She wasn’t balancing. Her speech is a little bit delayed. So, we went to a private neurologist.(supplementary data) (from caregiver) |
| Finding 6 | Non‑clinical observers (U) |
| Illustration | We requested the help of a nursery teacher [child’s name] has had. And she agreed to observe [child’s name] for half a day… we had the chat with the nursery teacher after she’d observed [child’s name] for that half a day, and she had words to us. And I will never forget them… ‘There’s something very wrong and you need to get somebody to have a really good look at her.’ And it was from that point that she then contacted the GP, our local doctor…I think it was within three days, [child’s name] was having a CT scan at the local hospital.(supplementary data) (from caregiver) |
| Feng JC, Wu WW, Chwo MJ, Liang SY, Cheng SF. The long-term care experiences and care needs of parents caring for children with adrenoleukodystrophy. Hu Li Za Zhi. 2019;66(1):27-37 18 | |
| Finding 1 | Chaos, isolation, and helplessness—reaching acceptance (U) |
| Illustration | At the time, I didn’t know what ALD actually was, so I had no idea how the disease would progress. I watched a video on the Internet and thought, ‘I can never accept this.’ It was such a terrifying thing. The idea that our own child would change like that—we didn’t believe it at all…(P.30) (from parent) |
| Finding 2 | Self-blame, humiliation, anxiety (U) |
| Illustration | Our oldest child had spoken with their teacher. ‘Why did Mom give me this sickness? I don’t want to die yet. My little brother can’t walk anymore and he can’t eat anything, he just lies in bed. It’s so scary.’ I ask him for forgiveness every day—(here the mother stopped speaking and was lost for words, with tears in her eyes and a blank expression)—I tell them I’m sorry that both of them got sick…(P.31) (from parent) |
| Finding 3 | Exhibiting tenacity as a parent (U) |
| Illustration | I was taking care of the child full-time at that point. Although it was dreadful, I had to study up. There wasn’t anyone to help me at home. So I researched…and researched…and researched…that was the only way I could help him. Taking care of my child is everything. There is nothing else.(P.31) (from parent) |
| Finding 4 | Understanding and facing the future (U) |
| Illustration | Right now, the most important thing to me is being close to my child. As soon as I get home from work, I cuddle with him and sing to him. I don’t know how much time we have left, so I want to be by his side as much as possible telling him that “I’m here, it’s OK.”(P.31) (from parent) |
| Finding 5 | Staying close to the child as they live out their life without suffering (U) |
| Illustration | We signed a paper saying not to perform emergency life-saving procedures. I’ve accepted the fact that I can’t do anything for the child. But I don’t want my child to experience that sort of suffering, not even a little bit. My wish is for the child to move on comfortably—I don’t want to show them my pain.(P.32) (from parent) |
| Finding 6 | Integrate resources and provide treatment immediately (U) |
| Illustration | At the very beginning, we took our child to XX Psychosomatic Clinic. There, they wrote us a referral to a neurologist who performed an exam. From the eye clinic, we were introduced to the head of XX Eye Clinic. So we came and went many times. Finally, we were dealing with National Taiwan University Hospital. None of these doctors are in the same place. If they were in the same location, they could discuss the child’s symptoms with each other.(P.32) (from parent) |
| Finding 7 | Getting help and information quickly (U) |
| Illustration | I was carrying the child in my arms to the bath and washing them; I didn’t know at the time that I could purchase a shower chair if I requested one. Everyone taught me about the physical transformation and mucus problems, so I knew how to handle such things. Thinking about it now, the techniques everyone (treatment nurses) taught me were invaluable. I wish I had learned about them sooner.(P.33) (from parent) |
| Finding 8 | Establishing long-term care that meets individual needs (U) |
| Illustration | I wrote a note to let them know that the child had trouble falling asleep. After that, the relatively veteran nurses who always cared for him refrained from disturbing his sleep when coming to check on him, measure his temperature, scan barcodes, etc. I was very moved to learn that they let the child sleep deeply, even when it meant facing professional risk by bending the rules.(P.33) (from parent) |
| Forrest LE, Curnow L, Delatycki MB, Skene L, Aitken MA. Health first, genetics second: exploring families’ experiences of communicating genetic information. Eur J Hum Genet. 2008;16(11):1329-35 20 | |
| Finding 1 | Trauma (U) |
| Illustration | The first two weeks, I just laid in bed and cried. Between the hours of 7 and 7, I got up and I was on remote control … but as soon as the children were back in bed, I was curled up in my bed in the foetal position just thinking, this cannot be happening to my child.(P.1331) (from parent) |
| Finding 2 | Communicating to inform, not to warn (C) |
| Illustration | you are the information bearer and you’re also the mother struggling to deal with the news(P.1332) (from parent) |
| Finding 3 | Gathering information (C) |
| Illustration | we got this paper and it was the seminal paper written on ALD (adrenoleukodystrophy) in 1997 by Dr Hugo Moser and that was really good. That gave us … that gave me the details(P.1332) (from parent) |
| Lee TY, Li CC, Liaw JJ. The lived experience of Taiwanese mothers of a child diagnosed with adrenoleukodystrophy. J Health Psychol. 2014;19(2):195-206 17 | |
| Finding 1 | Difficulty confirming the diagnosis (U) |
| Illustration | The physician thought he had ADHD and suggested some medication … He [the child] took the medication for 3 months, but his condition got worse; he lost his balance and easily fell down. He couldn’t see and sometimes couldn’t talk. I was terrified. After a series of neurological examinations and genetic analysis, he was finally diagnosed with ALD. (P.199) (from parent) |
| Finding 2 | Powerlessness toward unsatisfactory treatment (U) |
| Illustration | It was like hearing a life sentence. I was very sad and felt hopeless. The progressive deterioration caused by the disease was just like a volcano erupting; the disease spread and ruined the function of various body organs. It’s unbearable to me, both physically and spiritually. My son was hospitalized when the tragic earthquake hit Taiwan. I wished the hospital had been crushed by the earthquake, so my son and I could have died together.(P.199) (from parent) |
| Finding 3 | Struggles with decisions around carrier testing (U) |
| Illustration | If my daughter had the gene, the next generation needs to be protected from inheriting the disease by taking precautions. I know I should take her for a genetic testing to confirm the outcome. But I am scared of the outcome.(P.200) (from parent) |
| Finding 4 | Guilt about being a carrier (U) |
| Illustration | My big sister has four sons, my second sister has six sons and my third sister has one son. All their sons are healthy. They are around 30 to 40 years old. Why me? Why do I have this bad gene? They (doctors) said it is a 50% of chance (to get the disease), but I think it’s 100%. What I have done? I feel guilty for bringing my sons to this world.(P.200) (from parent) |
| Finding 5 | Support from family members, other parents, and religion (U) |
| Illustration | My husband and I quarreled with each other sometimes, but my husband has never blamed me for passing the gene on to my son. We became even closer after my son’s disease. We (participant and her husband) help each other. Even my mother-in-law has never blamed anyone.(P.201) (from parent) |
| Finding 6 | Lack of integrated resources and support (U) |
| Illustration | We didn’t obtain much assistance from the government and the TFRD. I hope these two organizations can take ALD more seriously, so we don’t need to seek the resources ourselves. I am worried about who will take care of my son after I am gone. I get so scared every time I think about this issue. What can I do? Nobody can answer my question, not even God. The government should do something about it. The government should sponsor some community programs to take care of children like my son.(P.202) (from parent) |
| Morton G, Thomas S, Roberts P, Clark V, Imrie J, Morrison A. The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland. Orphanet J Rare Dis. 2022;17(1):1-13 33 | |
| Finding 1 | Diagnostic delay and disease progression (U) |
| Illustration | …he was speaking very well compared to others his age. He was very talkative and fine at two. At that age then he began to slow down speaking and slowly but surely losing all his ability. He was really quite well developed at two years of age as a little boy but over the course of about nine months all that disappeared on him. From that age of two to three where he lost his physical ability before his mental faculties was very traumatic for him and for us and physically painful and emotionally upsetting and confusing and distressing for [Name] and for us. It was terrible to watch him.(P.5) (from parent) |
| Finding 2 | Outcome of NBS results and effect upon reproductive choices (U) |
| Illustration | It did and it absolutely has I will be forever grateful for his early diagnosis thanks to his older sister.(P.10) (from parent) |
| Nepomuceno MAS, Bellato R, Araújo LFS, Mufato LF. Ways of weaving networks for the care by the family that is experiencing the chronic condition by adrenoleukodystrophy. Cienc Cuid Saude. 2012;11(1):156-65 32 | |
| Finding 1 | The family weaves a network to care for Belchior (C) |
| Illustration | […] I needed the [ESF] doctor twice to come here to see my son. […] I asked the doctor to come again on a different day. He said: “Wasn’t he going to make an appointment?”. He sent a nurse. Now doctor has changed, a doctor working there, female doctor, I do not remember her name. Even without inviting her, she came here to visit him. So I think just like him [the doctor], he has an obligation to visit, mainly, a patient like him, and it was a failure, because if it is a “family health”, then they need to visit the houses. We needed him, but he didn’t come to help us, he told me to take him to the public hospital and he would provide the transport… in a way to say do not come. We did provide the transport anyway to take him.(P.162) (from parent) |
| Pasquini Tai LS, Goff Sarah L, Whitehill Jennifer M. Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences. Orphanet J Rare Dis. 2021;16(1):1-14 19 | |
| Finding 1 | Obtaining insurance (U) |
| Illustration | When we tried to get Medicaid, there are literally hoops that you have to jump through to get them into a Medicaid program, at least in the state of Texas. So, you could either go down to the waiting list that took X number of years – I mean, we’re still on some of these other lists, and she was diagnosed four years ago, so a lot of these lists are, you know, 10, 12, 15 years long, for waiting lists… But you can try the Writer 28, and you have to meet at least two criteria.(P.5) (from parent) |
| Finding 2 | Accessing care through insurance (U) |
| Illustration | For her, you might need a drug that is proven for cystic fibrosis, but we know for a fact that she has some of the same lung issues, but we may not be able to get the insurance to cover that equipment or that drug because we don’t have the background that says, “Oh yeah, they will work for MLD too.”(P.5) (from parent) |
| Finding 3 | Individual factors (C) |
| Illustration | It goes back to walking around in somebody else’s shoes and trying to figure it out. It is not like we are trying to take advantage of anybody when we have kids with rare genetic illnesses. It is very difficult.(P.5) (from parent) |
| Santos RNC, Bellato R, de Araújo LFS, de Almeida KBB, de Souza ÍP. Men’s position in family care on situations of chronic illness. Rev Esc Enferm USP. 2018;52:e03398 34 | |
| Finding 1 | Physical/circulation dimension (U) |
| Illustration | This was the second time. The first one I went there and thanks God we got a speech therapist and a physical therapist through the child’s prosecutor. But they only have a limited amount of sessions, and when they end we have to start the process again. When they were ending I took the reports of the physical therapist and the speech therapist. I took them there and they said: No, now they are sending you to the rehabilitation center, they have the conditions to care for you.(P.4) (from parent) |
| Finding 2 | Relational dimension (U) |
| Illustration | It’s like that, she takes care during the day and I arrive at night… it’s like that in here, it’s like in a hospital, one day she sleeps with him, the other I sleep, we take turns.(P.4) (from parent) |
| Finding 3 | Affective dimension (U) |
| Illustration | All the time taking care of him. Thankfully, my husband also takes good care of him, thank God.(P.4) (from parent) |
| Finding 4 | Social dimension (U) |
| Illustration | My husband, he arrives, I leave. I have permission there at work […] he leaves a little bit earlier, when he arrives, I leave.(P.4) (from parent) |
| Schwan K, Youngblom J, Weisiger K, Kianmahd J, Waggoner R, Fanos J. Family perspectives on newborn screening for X-linked adrenoleukodystrophy in California. Int J Neonatal Screen. 2019;5(4):42 16 | |
| Finding 1 | Communication of positive NBS results (U) |
| Illustration | I was shocked. I was in tears. She [pediatrician] didn’t seem like she knew anything. So it wasn’t like I could ask her any questions (P.3) (from parent) |
| Finding 2 | Emotional progression and coping with the NBS result (U) |
| Illustration | I try not to think about the future too much because it freaks me out. I try to envision positive things, but if I think too far in the future sometimes my mind goes: What if he’s in a wheelchair? What if he’s dead? So I really don’t think about it very often. I guess that’s the way that I deal with it.(P.5) (from parent) |
| Finding 3 | Impact on family dynamics (U) |
| Illustration | He [husband] went into a depression. We didn’t have any means of communication. I eventually got him to go to therapy, but even during his time in therapy, he wasn’t coming home and talking to me. It’s been a rough almost two years.(P.5) (from parent) |
| Finding 4 | Overall opinion on the NBS process and follow-up care (U) |
| Illustration | I’m just curious if Clarissa does need to be seen more often. I feel like because she’s female and she’s not presenting right now, they just pushed her to the back burner. I’m left over here wondering, what if she is presenting and I don’t know?(P.6) (from parent) |
U, unequivocal; C, credible.
ADHD, attention-deficit/hyperactivity disorder; ALD, adrenoleukodystrophy; CT, computed tomography; ESF, Estratégia Saúde da Família (Family Health Strategy); GP, general practitioner; MLD, metachromatic leukodystrophy; NBS, newborn screening; NHS, National Health Service; TFRD, Taiwan Foundation for Rare Disorders.