Genetic Disorders – Wiskott Aldrich Syndrome
Our family is affected by a genetic disorder called Wiskott Aldrich Syndrome which is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count) and immune deficiency.
My nephew was diagnosed when he was 2.5 after countless infections and constant trips to the doctor and hospital. A hematopoietic stem cell transplant (Bone Marrow transplant), accomplished through a cord blood or bone marrow transplant offers the only current hope of cure. So in 2003 my nephew Mark underwent what would be the first of two transplants.
In September 2005 our son Charlie was born and when he was 3 weeks old showed the first signs of WAS. He too underwent a HST in January 2007 and has made a full recovery.
Words cannot express our gratitude and thanks to all the research that has led to the discovery of this condition and the subsequent treatment, without this our boys futures would be very bleak. When I fell pregnant with our second son, we were able to have screening tests to see if he carried the WAS gene and fortunately he did not. We will never forget the amazing support and care given to us from the staff at PMH it was first class.
Huggies would like to thank this mum for bravely, and generously sharing her story. We sincerely wish our best to you all.