Prader willi

Stories of Prader-Willi Syndrome: Rachael

Our 18 year old daughter Rachael has Prader-Willi Syndrome, diagnosed at 2 weeks of age. The last 18 years has been quite a journey for her and the whole family with many challenges countered by times of laughter and feeling very proud of her determination and remarkable achievements.

Rachael has attended a very supportive mainstream school and has just finished her Year 12 studies including a modified curriculum to meet her needs and capabilities. With great determination she achieved high levels in her studies including successfully completing an online Certificate II from Tafe in Cultural & Information Services as her Year 12 focus. She also achieved great success in mainstream maths subjects up to and including her Year 11 exams and is very talented at word and number puzzles. She has an IQ of 87 (low average) and has always amazed those around her with her achievements, despite her disability, if given the right support.

The future feels daunting now that Rachael has finished school. While she has many skills, her independence is significantly limited by her disability, in particular the risks associated with food. She is currently doing work experience at a dog grooming business, which works well with her love of animals, as well as looking at working part time in a supported industry. She is a very sociable young lady who likes to meet and get to know people despite having more limited opportunities than girls her age.

Rachael has a noticeable and expected obsession with food but, despite this, she is remarkably controlled. We have not had to go to extreme measures to lock food away from home although we avoid having food in constant sight and have always had very strict rules and routines around meals and eating times. Keeping that structure in place at home and school seems to relieve her anxiety and helps her to manage her diet. To counter Rachael's preference for sedentary activities, we encourage her to join in an active family lifestyle, encouraging lots of fun exercise. Using growth hormone from an early age has also helped with the management of our daughters weight and associated health.

We are very proud of our daughter. Her 16 year old sister Hannah recently spoke at a school assembly educating students on Prader-Willi Syndrome and the research foundation. It was very touching when she commented about how proud she was of her sister. Both of her sisters are very supportive of her and have a close relationship with her.

There are many stressful times for our family because of Prader-Willi Syndrome but we are constantly learning to try and focus on the positives and keep positive about opportunities as they arise. This is not always east. We have learned a lot from other families who share their experiences of Prader-Willi Syndrome and hope that future research and funding will help our daughter to achieve a productive and happy life, reaching her full potential.