Abigails Story
Abigail suffers with a condition called RETT syndrome, as a lot of people may know, then again maybe not as only 1 in 10 have ever heard of it! Vicky an Abigail's story is unbelievably touching and also heart breaking! We've seen her at her high highs an low lows & she's one hell of a fighter
We would like to make people more aware of Rett Syndrome and its devastating effects it
can have on families.
****Money that was raised through the sponsored climb****
The money that's raised will be divided up. It will go to three different foundation as this is Vickie's wish (Abigail's mum)
It will go to the (PICU) in Belfast, Daisy Hill Hospital (children's ward) & (CURE RETT foundation) All of these places are very close to Vickies heart, as without them we wouldn't have Abigail today. For more info on RETT syndrome an Abigail's story plz read on down. This page will hopefully give people a better understanding of Rett Syndrome and the devastating effects it can have. NO MATTER WHAT COLOUR OR RELIGION YOU ARE THIS CAN HAPPEN TO ANY FAMILY!!!! Waiting 18 mths and finally March 2013 Abigail was just 2yrs old when our family got the devastating news. Yes it felt like a massive brick just fell out of the sky and hit us. As months went by, our lives changed!! NO, NOT FOR THE WORST, BUT FOR THE BETTER, as it made us stronger as a whole, brought out the care and kindness in everyone around us. Rett syndrome is caused by a mutation, or change in the DNA, of the gene named MECP2, found on the X chromosome. This gene is vitally important as it contains instructions for the body to produce protein which is extremely important for the brain development. This mutation of the gene prevents nerve cells in the brain to function properly. Rett Syndrome is a rare non-inherited neurological disorder which can affect 1 in 12,000 girls (but can also affect boys too which is much more rare). It affects nearly every aspect of their lives; taking away their ability to talk, walk and use their hands. ALL ABILITIES THAT YOU AND I TAKE FOR GRANTED. Many Rett suffers will have breathing and eating problems. Epilepsy fits/seizures are present in over half of all Rett Syndrome cases. Rett sufferers are locked in, trapped by a body that does not obey signals coming from their brains,though, they do know and understand much more than their bodies will let them. Symptoms can be;
Low/weak immune system
Repetitive hand movements
Grinding of the teeth/constant tongue rolling
Extreme anxiety/unsettled breathing
Unsettled sleep patterns
Loss of speech and motor control/really tense in muscle tone
Seizures/Epileptic fits
Scoliosis (curvature of the spine) and fragile bones
Parkinson like tremors
Rett Syndrome can sometimes be misdiagnosed as Autism!!
4 Stages of Rett Syndrome......
Stage one symptoms of Rett syndrome appear after an early period of seemingly typical development....At around 6-18 months, a stagnation of skills is apparent, followed by a period of regression. These initial signs can be missed due to the subtle slowing of development at first. Stage two symptoms usually begin between ages 1-4. Communication skills are lost or significantly reduced, along with purposeful hand use...Other symptoms include slowing of the rate of head growth, disorganised breathing, characteristic hand movements (such as wringing, washing or tapping), irritability and difficulties in walking. Some girls may display autistic-like symptoms, such as loss of social interaction or self-injurious behaviours. Stage three symptoms can begin at any age between 2 and 10, and can last for years...Some things can become more difficult, such as worsening motor problems and seizures. While other symptoms can marginally improve, including irritability and basic levels of communication (such as maintaining eye contact). Girls in this stage often have increased attention span and alertness, and show more interest in the world around them. Stage four symptoms can last for decades, and include reduced mobility, curvature of the spine and muscle weakness.....
However, cognition, communication skills and hand skills tend not to decline, whilst eye gaze improves. As a movement disorder Rett syndrome is particularly cruel. In the simplest of terms, Rett syndrome stops you from doing what you want to do, when you want to do it. Your body does not obey the commands of your brain. BUT THERE IS HOPE.......
1999 - Scientists identified the genetic mutation of the gene which causes Rett Syndrome. It was first thought that the syndrome may not be curable but in 2007 Scientists UNEXPECTEDLY REVERSED the condition in mice models even at the later stages of this disease. Rett Syndrome could very well be the FIRST CURABLE Brain disorder
Thank You very much for taking the time to read this and hopefully you will have a better, clearer understanding of Rett Syndrome and its effects it can have NOT ONLY on ABIGAIL BUT OTHER SILENT ANGELS OUT THERE LIKE HER.......
