LIVING WITH RETT SYNDROME
In May 2010 our daughter Esmé was born; a healthy 9lb baby and the light of our world. She was a placid and happy baby, meeting all her early milestones – weaning, rolling, sitting. She bottom shuffled rather than crawled and had a good vocabulary of 200+ words by the time she was two.
Shortly after her second birthday however, things began to change. She sometimes seemed withdrawn and had screaming fits for no apparent reason. She stopped saying as many words as she had been and those she did say were less clear. She still wasn’t walking. Health visitors, GPs and paediatricians got involved and although she did take her first independent steps aged 33 months, she still had to undergo many tests: MRI, EEG, ECG, blood tests, assessments.
Over the next few months she stopped talking almost completely. Her hand use, previously so precise, failed and became clumsy to the point of uselessness. She twiddled her fingers all the time and started to breath erratically; either hyperventilating or holding her breath for unnaturally long periods.
On 8th October 2013 we were given the news: “She has Rett Syndrome”. Then “Don't Google it”. Our world fell apart as we tried to make sense of what was happening. Our baby who had started life so promisingly was now going backwards. There would be no boyfriends, no leaving home to start Uni, no walking her down the aisle, no grandchildren. She would be utterly dependent on us 24x7. Rett Syndrome will do what it will do: there is no predictability or control over it.
Three years on from that devastating day and Esmé is still, along with her little brother, the light of our lives. She refuses to conform to Rett Syndrome. She still walks well, runs and climbs. Her swallow is safe, allowing her to eat orally. She does not yet suffer from epilepsy or Rett related seizures. She has mild scoliosis which is currently non progressive. She has embraced eyegaze technology to communicate. She is learning to read, spell and do maths. She has opinions and feelings. It has been recognised that she does not have learning difficulties: her problem is relaying information back due to the uncooperation of her body. She cannot speak at all and she has almost constant stomach pain due to swallowing air when she hyperventilates. Her purposeful hand use is poor; she cannot hold a pencil, spoon or toothbrush.
She will rely on us and carers her entire life to support her in terms of personal care, safety, feeding. She will need people to advocate for her and support her communication methods. Rett could take all of her abilities away overnight.
Whatever the future holds, Esmé is a force to be reckoned with. She has a voice and she is not afraid to use it, albeit via unconventional methods. Rett Syndrome is a cruel condition but the outlook for those with it is not as bleak as Google leads us to believe.
Rett Syndrome – the facts:
Rett Syndrome is a severe, lifelong, neurological condition. It is only hereditary in 0.5% of cases; for 99.5% of cases it is caused by a random spontaneous “de novo” mutation at the point of conception.
It occurs in 1 in 10-12,000 births and nearly always affects girls due to its position on the X chromosome. The mutation results in an underproduction of a protein called MECP2 which acts as a transmitter of neural messages to the rest of the body. This interruption in neural transmission leads to a lack of control of many or all of the muscles in the body.
Typically, there is no sign of Rett Syndrome at birth but between 6-24 months, development slows and milestones are not met or are increasingly delayed. Constipation, reflux and stomach problems are common. There may be a loss of connection with the outside world and unpredictable screaming fits. Sleep will generally be affected with considerable night waking with either screaming or hysterical giggling spells lasting 3-4 hours at a time. It may be mistaken for, and diagnosed as autism with global developmental delay.
The rapid regressive phase can last until 4 years old and includes loss of speech, loss of purposeful hand use, hyperventilation/breath holding, distinctive hand stereotypies such as wringing, tapping or clapping. After this phase however, sleep patterns should improve as should social behaviour and a renewed desire to communicate somehow.
Seizures, scoliosis, loss of swallow mechanism, loss of mobility (if it was ever achieved) affect 70-80% of people with Rett Syndrome at some point in their lives, often with no warning and a sudden onset. There are also often issues with heart rhythm associated with Rett Syndrome.
Rett Syndrome is not a degenerative condition. It is not a cognitive complication. Individuals with Rett Syndrome are often cognitively able at an age appropriate level. They are capable of learning, studying and passing exams given the right access to teaching methods and communication systems.
There is no cure for Rett Syndrome and only limited treatment for some of the symptoms. There is no way to predict how severely each person with Rett Syndrome will be affected or when symptoms may occur. Rett Syndrome has been reversed in mice in the lab: maybe one day there will be a way to combat it in humans.
To find out more, or if you think someone you know may be affected by Rett Syndrome contact Rett UK at