MPS III - Safilippo Disease                          Link to the MPS Society website

Amy and Daniel both have a rare genetic disease called Sanfillipo disease. It is one of the mucopolysaccharide diseases, also known as MPS III, named after Dr Sanfilippo who first described the condition in 1963.

The disease effects children in different ways and speed of progress varies in different children. It progress through three main stages. The first is apparent during pre-school years as development starts to lag behind others of similar age. The second phase is characterised by extremely active and restless behaviour and language and understanding are gradually lost. In the third phase Sanfilippo children begin to slow down and become more unsteady on their feet. Eventually they lose the ability to walk. Average life expectancy is around 15 years (although there is wide distribution around the average).

Because the condition affects the brain, Amy and Daniel do not know there is anything wrong with them. They are both very affectionate, but hard work. Amy (now 21) and Daniel (now 18) are both totally dependant for all of their daily needs and require 24/7 care. They no longer have any speech or mobility and are unable to make their needs known. Amy is very affectionate and likes to smile at people and enjoys any attention she is given. Daniel is not quite so responsive, probably due to some of the medication he is on.

Amy and Daniel are a blessing to our family. Its not always easy, but we often thank the Lord for the joy, the blessings and the fun that they bring to our family and to many others who know them.