Diagnosis: MPS IIIB , San filippo syndrome

Country: Ireland

What makes this individual special, unique and a role model for others?

Rebecca has touched the hearts of many many people . She is always happy and because she is still talking she tells everyone she is happy and also tells us that she loves her life .. She is 17 years of age now and has astounded everyone that she still walks and talks . When Rebecca tells us shes happy and she loves her life we feel for parents whose children no longer speak that she is speaking for them by telling everyone shes happy , we were told it gives great comfort to other San Filippo parents to hear her talking and saying these words . Also when people see her it usually puts there own problems in to perspective . Not to minimise peoples problems but life could be a lot worse for everyone .

Proudest accomplishment

Rebecca has many accomlishments in her life . Mantaining reasonable speech and mobility until now at the age of 17 years is a huge accomplishment . She made her first Holy Communion and confirmation and did her self proud by carrying out duties in the chapel for the priests and bishops while blurting out things to the bishop like " i love you god " the Bishop said thanks for the promotion . And when she recieved her holy communion instead of saying " Amen " she said " thanks god " . She has taken part in local special olympics in which she won gold for throwing bean bags . As you can imagine bean bag throwing is a perfect sport for San Filippo,s .

Words of wisdom about living with MPS

When Rebecca was born our life fell apart , but some time later we realised that she was given to us for a reason . They call these kids special and they truly are . Through this disease we have made many new friends from all over the world let alone Ireland that mean a lot us . When she was younger we could bring her shopping and she picked her own clothes and favourite toys etc . I suppose they were her independant years but now we are looking after her needs more and more as time passes . San filippo has changed our lives forever . We can not imagine any other life now . Ok we wish she was healthy and living a so called normal life but shes our baby girl and we will cherish every second we have her while always praying and thinking about all our friends whose children have passed away from this condition . Enjoy every day as if its the last . As its said ' care today ' hope tomorrow ' .

Ayşe Nihan Uğuz