The Burden of Disease in Metachromatic Leukodystrophy: Results of a Caregiver Survey in the UK and Republic of Ireland.

Abstract

Abstract Background: Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor function and severe decline in cognitive function. Palliative care is the only option for most patients with the disease eventually leading to premature death. Three UK-based MLD patient organisations commissioned an online survey, and follow-up semi-structured interviews open to MLD patients or caregivers, aged 18 years and over to better understand the impact of MLD. Results: A total of 24 patients were included in the survey: thirteen late infantile (LI), six early juvenile (EJ), two late juvenile (LJ) and three adult onset (AO). Six patients had received gene therapy and one had received a hematopoietic stem cell transplant (HSCT). Our study revealed that MLD patients receiving no disease modifying treatment suffered from a great range and severity of symptoms, and required numerous medications, surgical interventions, and home adaptations. All early-onset patients (LI and EJ) were wheelchair dependent, and tube fed, with all EJ patients having lost all speech. The Parents of an EJ patient described how their child suffered with MLD: “She's been tortured, basically. She is. That's what the disease is doing to her. It’s torturing her little body. And we had to sit and watch that. We have to sit and watch it. And other than cuddling her and giving her meds, there’s just nothing we can… And I’d swap places with her.” Patients treated with gene therapy or HSCT were more mobile and were able to eat normally and two thirds of the children were able to attend mainstream school. Conclusions: The impact of illness that patients and their caregivers faced was extensive, and the level of care, amount of medication, number of hospital visits and educational support required were substantial. Financial constraints often brought about by inability to work also placed considerable strain on families. Palliative care is the only current option for most patients and some symptoms of MLD are extremely challenging to manage. There is a need for greater awareness of the disease burden faced by patients and their caregivers, and the resources required to support these families.