Meet Arthur

For Arthur, who suffers from a complex autoimmune disease, the impact of personalised medicine has been life changing. Arthur first fell seriously ill at the age of 43. For 20 years he has battled debilitating pain, misdiagnosis, and unanswered questions. Ultimately, this resulted in Arthur requiring a wheelchair due to complications from arthritis. 

Arthur was referred to the CPM due to the complexity of his disease and after genomic testing, the CPM discovered he was suffering from a complex autoimmune disease caused by a unique mutation in the ITK gene.

​With this discovery, Arthur could start a personalised treatment plan and the results have been transformational for him. Identifying the ITK gene mutation and developing a highly targeted course of treatment have been instrumental to his recovery. The success the CPM has had with Arthur's treatment has helped develop a roadmap for other patients with similar unanswered questions.

​ “Arthur’s got a lot more quality of life than he used to have – 100 percent more quality. But our main objective is that we help our children and our grandchildren not to go through what we have been through. That they have some quality in their life.” - Lorraine , Arthur’s wife, and primary caregiver.  

The impact of the personalised medicine program extends far beyond the individual patient like Arthur—it embraces entire families. For the family, this has meant the discovery that three of their four children, and their 15-year-old grandson, also have the ITK mutation. These insights led us to find other ITK mutations causing autoimmunity in other patients around Australia, some of whom have been successfully treated.