JAN, BETH AND HEATHER
BETH AND JADE
JAN, AMY, KATE AND HEATHER
WORDS INGRID NELSON PHOTOS REBECCA SMITH
RETT SYNDROME (RETTS) IS A CRUEL AND UNFORGIVING DEGENERATIVE DISEASE AND ONE WE ARE STILL LEARNING ABOUT. I HAD THE HONOUR OF SPEAKING WITH THREE BEAUTIFUL LADIES WHOSE DAUGHTERS HAVE BEEN DIAGNOSED WITH RETTS. THEIR STRENGTH, HUMILITY AND GRACE TOUCHED MY HEART.
ny parent will attest to the sheer joy, pride and relief you feel as your baby reaches their first important milestones. Their first word, first crawl, first step … now imagine how devastating it would be to witness those achievements slowly ripped away before your very eyes. That is exactly how the three beautiful, inspirational mothers I caught up with felt when they instinctively knew something was seriously wrong with their daughters’ development. What followed was a rollercoaster of emotions, life-changing revelations and a journey towards acceptance as they discovered their precious girls were suffering from Rett Syndrome. Rett Syndrome is a severe genetic disorder of the nervous system caused by a fault on one of the X chromosomes. Usually only seen in girls, it affects speech and all-body movement. In Australia, Rett Syndrome affects about one in 15,000 females, aged five to 18 years. Typically, development is normal 46
until the age of six to 18-months and then rapidly deteriorates. Beth Hawes is mother to 12-year-old Jade, who was diagnosed with Retts when she was two. “Jade was diagnosed with autism at 18 months, but we didn’t feel it was right. Looking back, she had all the hallmarks of Retts, particularly the hand wringing. She had no outward signs until about 18 months, then she started to have autistic-type symptoms. She stopped talking, became withdrawn and then started having breathing problems,” says Beth. After visiting four different neurologists, Jade was eventually diagnosed with Rett Syndrome. “I had actually started Googling it early on in the piece and I was thinking, ‘I hope the blood tests don’t come back positive for Rett Syndrome’. When they did, I was absolutely gutted. But I was also happy to know there was finally profilemag.com.au
Published on Jun 1, 2014