MLD case studies Milli, Scott, Abbie

Case Histories


You will already know that there are three distinct forms of MLD dependant on the age at which the symptoms are first displayed. The following case histories illustrate the progression of the condition in all three forms. However, these are real-life experiences of the parents of people with MLD, and are not necessarily the same as those of other families in similar circumstances.

The clinicians and researchers are still unsure why some patients with a higher enzyme level can sometimes be affected far more than others with a low count. There are no rules, as there seem to be other physiological or metabolic changes occurring alongside the enzyme deficiency, and these are still being investigated.

However, these case histories might help others to understand how the condition can affect the patient, and we thank all three for their willingness to share their stories with us.

Millie’s Story

Scott’s Story

Abbie’s Story


About us

MLD Support Association UK was set up to bring hope to families in the fight to eradicate Metachromatic Leukodystrophy (MLD). Our aim is to provide support by way of shared information from people in similar circumstances who have already experienced the effects of the condition and/or any treatments available.

MLD Support Association UK

MLD Support Association UK is a
Registered Charity Number 1150542

Professor Timothy M Cox, MD, FRCP, FMedSci
Suzi Digby (Lady Eatwell) OBE
Iain Stewart MP


MLD Support Association UK
Floor 5
Amphenol Business Complex
Thanet Way

Tel: 07977 440809