Esmé’s story

Rett Syndrome is caused by a genetic mutation on the X chromosome. This usually happens at the point of conception and is just one of those random things. Only 0.5% of cases are inherited. It affects predominantly girls (boys tend not to survive to birth and even then not till their first bday) and occurs in 1:12,000 live births worldwide.

Typically the child appears perfectly healthy at birth and starts to develop normally. Somewhere between 6-18 months development slows and the child falls behind her peers. Between 12-24 months the girl goes into the recessive phase where skills previously acquired, especially speech, coordination and hand use, are lost. All girls with Rett have screaming fits, terrible digestive issues and problems swallowing. Over 80% go on to develop epilepsy and 70% experience severe curvature of the spine. Many never weight bear or walk and of those that do, over 50% lose this ability. Many hyperventilate constantly which in turn places stress on their hearts and leads to chronic heart conditions. Due to the loss of purposeful hand use, these girls cannot write or sign to communicate. Mental development is not affected. The girls all develop mentally as they should for their age. It is truly a locked in condition.

There is some amazing communication technology that works using eye gaze that helps these girls to “talk” to the outside world. In time we hope to raise enough money for Esmé to have this facility and free her a little from her silent prison.

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 still 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.

Except she didn’t. 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. A blood test confirmed it.

At present, Esmé has come out of the regressive 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. The professionals aren’t sure what to make of this as they haven’t come across it before.

She attends a mainstream preschool session at the moment and sessions run by Barnados. 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 The Smurfs movies, Despicable Me and Tinkerbell. She (mostly) loves her baby 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.

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