ABSTRACT
Knowledge and understanding of the genetics and clinical manifestations of even some of the rarest inherited conditions continues apace. Whilst recognizing that there are more than 5000 identified genetic diseases, it is principally through the eyes and experiences of families whose children are affected by the mucopolysaccharide (MPS) and related diseases (MPS) that geneticists examine attitudes to the science of genetics. It is therefore of little surprise that, on learning that their child or children have an MPS disease, parents have to learn quickly and to embark on teaching and informing a wide range of professionals involved in the care of their child. In recent times it has often become possible to carry out genetic tests for carrier status on the healthy siblings of an affected child, where it is known they may be at risk of carrying an MPS disease especially when the affected child's genotype is known.
