PERTH’S Sam Fitzpatrick tells us the heartbreaking story of her daughter Macy, who has a genetic disorder that causes several conditions including refractory (drug-resistant) epilepsy.
MY four-month-old daughter Macy has a devastating genetic disorder called WOREE syndrome, caused by a mutation on the WWOX gene.
The gene is essential for brain development and children affected by this syndrome display refractory (drug-resistant) epilepsy, profound global delay and severe cognitive impairment.
Most children with WOREE Syndrome will not live to adulthood.
There is around 50 cases known worldwide; at present there is no cure.
It’s absolutely heartbreaking to be told that at this point in time there is nothing that we can do to help prolong Macy’s life.
However, through occupational therapy, physio and early intervention we can improve her quality of life.
My husband Tim and I have always been extremely honest and open about our journey and although this has been the toughest four months of our lives, the only option we have is to move forward and really enjoy whatever time we have with her and give her the best life we can.
Macy has proven time and time again that she is a little fighter and we will continue to fight with her – she really is the sweetest little soul.