Our story: Esmé arrived 2 wks late weighing 9lb and hale and hearty. If anything, she grasped new skills very quickly and was very competent. She was saying words well before her 1st birthday and by her 2nd birthday was stringing 2-3 words together. She rolled over and sat up at the expected times and whilst she never crawled she was such a proficient bottom shuffler nobody was concerned. She stil
l wasn't pulling to standing though by 18 months so we were seen by the paediatrician. She felt that it was all linked to the bottom shuffling and as it's a familial trait wasn't concerned. We saw the physio and were given exercises and she slowly made progress. She eventually took her first independent steps age 33 months.....and we thought that now surely she would come on in leaps and bounds. Since her 2nd birthday she had been slowly losing words that she could easily say, and although acquiring new ones she would then stop saying those too. She had also become closed off, not looking up to her name or when people walked into a room. She had started having uncontrollable screaming fits at certain times. Her sleep was appalling, maybe only sleeping 5-6 hours in 24, and often broken with dreadful stomach pains that caused her to scream in agony. Around her 3rd birthday we noticed that she had started twiddling her fingers and putting them in her mouth a lot. We put her through all the tests: 9 vials of blood were taken, we took her for an MRI on her brain, she had sight and hearing tests, she was prodded and poked by physios, speech therapists, educational psychologists, paediatricians. Nobody quite knew what to say. Finally, on Oct 8th 2013 we had the call: the paediatricians wanted to come to our home with "results." It is Rett Syndrome. A blood test confirmed it. At present, Esmé has come out of the regressive phase and is well into the plateau phase. She can still walk although she falls easily and gets tired quickly. She still has limited hand use: she can turn pages in a book, eat finger food and pick up a toy. She can no longer speak. She has to rely on us guessing what she does/doesn't want. She struggles with coordination and following instructions is hard for her as the processing of information is cluttered. Mentally, her brain is exactly where it should be for her age. Thankfully the EEG showed no sign of seizure activity at this point and even more interestingly, the part of the brain always affected by Rett whether there are seizures present or not is not in her case affected. This isn’t unique but it is unusual. All the professionals can tell us is that the longer it stays that way and she is seizure free the better. If she has not started to have seizures by age 21 then chances are good that she won’t ever. That seems a long way off as she is just 5. She attends a special needs school which is able to cater to her physical and cognitive needs. They have been impressed by her learning ability and have suggested that it is age appropriate ie; no brain damage or learning difficulties. She is extremely sociable and loves being amongst other kids. She loves music and dancing. She loves all animals but especially her chickens. She loves the outdoors, playing on the swings and splashing in puddles. She loves watching films: current favourites are Tinkerbell movies, Despicable Me and Tangled. She (mostly) loves her 2 year old brother. She is kind and gentle but extremely determined. She is incredible and we are proud of her resilience and courage every minute of every day. Here's the other thing. Whilst there is no treatment or cure for Rett Syndrome and this cruel condition will take her from us bit by bit, it HAS been reversed in mice. It is not a degenerative disease. It has been shown that if the missing protein can be replaced then the loss of skills can be undone. Scientists are working hard to find a solution to make Rett Syndrome the first neurological disorder to be treatable. We pray that this will happen in Esmé's lifetime. No little girl deserves a life with Rett. Last year we managed to raise enough money to buy her an eyegaze communication device. Think Stephen Hawking and you’ll have a rough idea. By looking at different symbols on the screen the machine will speak the words for her. It is like using a mouse controlled with her eyes. It’s not easy: it requires a lot of concentration. She is doing brilliantly though and has even started to teach herself to read and spell. Obviously we and her teaching staff need ongoing training to use the machine, keep it updated and go on to each next level. She also requires specialist 1-1 help to learn new things. This all costs money. This is one of the things that makes our fundraising vitally important. Imagine that your only way of communicating with the world is cut short due to lack of funds. We are also planning adaptations and modifications to our family home. There WILL come a time when Esmé is confined to a wheelchair at least some of the time, when she can no longer manage the stairs or we can no longer lift her into and out of the bath. Whilst there is some help out there for certain aspects of modification, it will not cover everything that we need and wish to do to our home. This is the other main thing that we are fundraising for. We want to make sure that our lives can carry on as well as possible with minimal upheaval whatever Rett decides to throw at us. Puberty is the next stage where we are likely to see sudden onset of symptoms such as seizures, scoliosis, feeding difficulties and loss of mobility. As if girls with Rett Syndrome don’t have enough to deal with, this tends to happen earlier than normal. In the meantime we have a few more years where hopefully things will be stable, but we don’t know that. We can never relax.
