Table 3 Case studies: pathways to diagnosis
MLD subtype | Diagnostic journey |
|---|---|
Late infantile: Case study 1 | • First symptoms were observed at 2 years old. • The child did not progress from walking holding on to things to walking independently. • The child saw various doctors and hip dysplasia was suspected. During this time the child was finding it more difficult to walk and was referred to a community paediatrician who sent for blood tests and MRI. • Late infantile MLD was diagnosed at 2 years and 8 months old. Interviewer: “So, between the first symptoms and when you got the diagnosis, had your daughter deteriorated any further?” Parent: “Yes. She had deteriorated more by that point. Her speech had slurred quite significantly, and she was dribbling excessively. And her sleep was really disturbed as well.” |
Late infantile: Case study 2 | • First symptoms were observed at 1 year old. • The child did not progress from walking holding on to things to walking independently. • The child saw various doctors and parents noticed a decline at 18 months old. • First referred to a community physiotherapist for walking issues, child was getting worse, after a long time was referred to a paediatrician. • The child was misdiagnosed with hyperkalaemia and neuropathy. • Genetic tests and initial MRI were inconclusive. • MLD was suspected after the second MRI and genetic tests confirmed diagnosis three months later. • Late infantile MLD was diagnosed at 2 years and 6 months old. Interviewer: “What led them to do the MRI?” Parent: “We knew that he was getting worse, and we had always kind of had to speak up for [name] and had some disagreements with the team and what they thought, and we demanded that he be seen again, that he was regressing. And so, they did the MRI the second day and they discovered that there was white matter accumulating in the brain and in that respect when they looked at the first MRI, they also discovered that they should have seen it back then too. 18 months lost.” |
Late infantile: Case study 3 | • First symptoms were observed at 3 months old. • Parents were concerned that the child had a degenerative condition from an early age. • The child first went to the GP with feeding issues where they saw a breastfeeding specialist who noted the child had an asymmetric jaw. • Numerous visits to the GP for frequent chest infections, concerns over breathing at night and floppy baby were recorded. • This led to referral to paediatrician 1, who felt that feeding issues were due to reflux. • Further visits to the GP were made, the child was very ill for 6 weeks, sick at every feed, and had a temperature. • The child did not pass urine for 24 h and was then hospitalised with pneumonia. The parents asked for help as they felt that the first paediatrician was not listening to them. • This led to referral to paediatrician 2, who referred the child to physiotherapy. • The physiotherapist made some progress, but the child then started to regress. • The midwife noted delayed growth and motor skills at the “2-year check”. Referred the child to a community paediatrician. • The parents of the child talked through all their concerns with the community paediatrician, assessments were done, and the parents were told child was just delayed. • The mother persevered and asked for a test for muscular dystrophy, the child was referred to a neurologist. • The neurologist was concerned, tests were conducted, and a diagnosis was reached. • Late infantile MLD was diagnosed at 2 years and 6 months old. Parent: “We got rushed into the hospital and that’s where I met the second consultant, where I just broke down and said, I know he’s got a chest infection, but I think there’s more than this. I think there’s more to it than this and I feel like nobody’s listening to me. Like the doctor’s not listened to me, the other paediatrician didn’t listen to me. And I feel like we just need some help.” |
Early juvenile: Case study 1 | • First symptoms were observed at 5 years old. • The child had previously been bright, but had lost interest in reading, was becoming clumsy and had wet themselves a few times. Behaviour issues were also reported at school. • The GP thought the child might be having petit mal seizures. • The child’s nursery teacher offered to assess them and could see there had been a significant change – she spoke to the doctor. • The doctor referred the child for a CT scan and a brain degenerative condition was confirmed. • The child had an MRI in July and by September was unable to walk. • Early juvenile MLD was diagnosed at 5 years and 6 months old. Parent: “I was quite often just shrugged off as a neurotic mother, I think. There was various things that just weren’t adding up to me. Just little things. And our initial thoughts were that she wasn’t settling in very well for school. She’d just started reception. And I had approached the school for help many times weekly. And probably on a weekly basis, I was in asking for her to be referred somewhere. And I was just constantly met with… Just made to be obviously neurotic, really. And she was just a naughty, difficult child.” |
Early juvenile: Case study 2 | • First symptoms were observed at 3 years old. • The child started tripping up. • By age 4, the child would get frustrated trying to pull up a zip or put a lid on a pen. • The GP reassured the parents that children just develop at different rates and by age 5 all children have caught up. • The parents went back to the GP with more symptoms, which were getting worse, including constant frustration and behavioural issues. GP referred child to a psychologist and a child development unit. • A series of assessments were done, the school noted that the child’s hands would shake when they picked up a pen. Dyspraxia was diagnosed and occupational therapy given. • Parents were concerned about the hand tremor and had researched it and felt there could be a neurological issue. The GP referred them back to the child development unit. • The child development unit were resistant but agreed to do an MRI and blood tests. Some underdevelopment in myelination was found but they were told this was nothing to worry about. • The parents pushed for further investigation and MRI was sent to neurologist for review towards the end of the year. • Parents could not get in touch with the paediatrician to find out results, calls and emails were not answered. Diagnosis was finally given; paediatrician did not know about the disease and suggested the parents research it. • Parents found out that it was metabolic and approached Great Ormond Street Hospital where confirmatory diagnostic testing was done. • Early juvenile MLD was diagnosed at 6 years old. |
Adult onset: Case study 1 | • First symptoms were observed at 20–21 years old. • The patient was at university and had become forgetful. However, in hindsight with an understanding of MLD, there were some early signs from 17 years old. The patient achieved lower grades than expected in A-levels and showed signs of aggression. • The patient was referred to a psychiatrist and investigated for schizophrenia and other possible causes. The trigger for diagnosis was when the patient could no longer tell the time. • The Parents pushed for further investigation and an MRI was done. • Adult onset MLD was diagnosed at 23 years old. Parent: “If we’d got the diagnosis a year earlier, he would probably have been living independent life still, albeit supported. Because it was that last year, was really when the symptoms started to manifest. And it was obvious we couldn’t leave him alone for any length of time. We had to monitor what was happening. He’d put a meal in the oven to cook and then go out.” |