In April 2006 the MPS Society has embarked on a five-year research programme, which will focus on the psychosocial aspects of living with MPS and related diseases. This continues on from a three-year project, which was completed in March 2006 that explored the psychosocial outcomes of bone marrow transplant for individuals affected by MPS I Hurler Disease. Over the next five years the Society will focus on a further three conditions – MPS IV-A Morquio disease, Fabry disease, and MPS III Sanfilippo disease. In particular, the research will explore:

The Psychosocial Adjustment of Individuals Affected by MPS IV-A Morquio Disease: Due to the rarity of this condition, literature regarding the psychological adjustment of patients is limited. However, due to the physical manifestations of the condition, namely short disproportionate stature and skeletal dysplasia, paired with normal intelligence, there is a potential for emotional difficulties, which can have a major impact on a person’s functioning within society. In order to maximise healthy psychosocial development it would be useful to explore the emotional experiences of individuals affected by Morquio disease from childhood into adulthood. This will enable us to ensure that appropriate psychological support is provided.

Are The Psychological Sequelae of Fabry Disease Relieved by ERT? Very little research has explored the psychological distress that is associated with Fabry disease. However, the little research that has been carried out clearly illustrates how psychiatric disorders, most commonly depression, complicate the disease. Enzyme Replacement Therapy has shown promising effectiveness in treating Fabry disease, and has widespread therapeutic benefits. However, the extent to which the psychological sequelae of Fabry disease are relieved by ERT is not clear. This study will not only bring us closer to determining the frequency and aetiology of psychological complications in patients with Fabry disease, it will also help to demonstrate whether treatment has a direct or indirect effect on symptoms of psychological distress.

Living with Sanfilippo Disease: A Sibling’s Story: Quite a lot of research has explored the experiences of children who are siblings of a child with disabilities, including learning disability. A lot of research has also focused on children’s experience of living with a terminally ill sibling, most notably cancer. Such research highlights psychological and behavioural problems, however it also illustrates how some children have positive experiences and see benefits in terms of psychological adjustment and learning. To date, siblings’ experience of living with Sanfilippo has not been studied. Since this disorder encompasses physical and learning disability, and challenging behaviour, while also being a progressive and terminal illness, the experience of the sibling certainly warrants investigation, so that appropriate support can be given.