Paddleforhope

Abbey White... her story. By Abbey's mother, Rachael.


Abbey's story began in the early hours of Monday, 7th June 2004 when a beautiful baby girl was born, fair skinned with dark hair and piercing blue eyes. Her weight, length and all vital statistics were normal.

The paediatrician's examinations proved all was well apart from a slight heart murmur which was explained as being reasonably common and chances were that Abbey would outgrow this minor defect.

The first 9 months were amazing. Abbey's progression was normal, achieving all the expected milestones (reaching, grasping, speech, feeding and sitting up). Abbey chose rolling in preference to crawling- many babies roll and drag in preference to "traditional crawling".

When at 12 months Abbey was still rolling and not attempting to stand or walk, niggling little worries began to emerge. At this stage I decided to consult with a Physiotherapist who was of the opinion that "Abbey had some low muscle tone that we can easily work on". Regular exercise would aid in the strengthening of her muscles and all would be well. At this point everything intellectually appeared normal.
Later, digestive and stomach problems began to emerge and dairy was removed from Abbey's diet. Soy products and rice milk replaced dairy, however nothing seemed to make a difference.

Regular respiratory and ear infections plagued little Abbey consistently for 2 years before grommets and the removal of adenoids would be suggested. At this stage our G.P. thought Abbey may have had hearing problems as she was now starting to lose some words.

Along with the loss of speech came the loss of eye contact. Autism was now mentioned frequently along with "Global Developmental Delay".

As we fumbled about with the medical profession (weekly appointments with Physio, Occupational therapists and Speech therapists) a routine visit to our paediatrician lead to the mention of Rett Syndrome, although she felt it was unlikely that this was the diagnosis for Abbey. On the strength of that comment I left with no intention of putting my little girl through yet another invasive procedure.

A few days later and a number of circumstances changed our decision and Abbey's blood sample was on its way to Westmead Hospital to be tested for Rett Syndrome. A long and nervous 6 months would pass before any results would come back to us. Abbey's test results were quite unusual and inconclusive, so it was left to the amazing Genetics Department at the Royal Brisbane Hospital to finally confirm a diagnosis of Rett Syndrome.

All any parent wants for their child is to have a loving, happy, productive and independent future. To watch them grow, marry, and one day have children of their own- something that Abbey will be denied.

While life may have taken a different path for Abbey, we have been blessed with two other healthy and happy children. They in turn are truly blessed to have Abbey in their lives. Rett provides its day to day challenges, however Abbey is a constant joy to us. Her beautiful piercing eyes, her sparkling smile and her brave attempts to live life to the full everyday will continue to light up our lives.