Firstly the science: it's a postnatal neurological disorder that's almost always seen just in girls. It's caused by changes on the X chromosome on a gene called MECP2. This gene seems to be essential in the functioning of nerve cells and is involved in turning on and off several other genes. It's a protein that is found in all cells in the body and brain but is found in high concentrations in neurons and is responsible also for maturation of the central nervous system (CNS). Each person with Rett syndrome has a different MECP2 change or mutation (don't much like that word) and the severity is skewed according to how many X chromosomes are affected throughout the body. Each cell contains 23 pairs of chromosomes. Each cell x 23. So in your body that's about a few hundred trillion!
Your CNS (brain & spinal cord) is responsible for an amazing array of things some of which are regulating blood pressure, breathing, movement, reflexes, balance, immune function and sensory signaling.
So what this means for a person with Rett syndrome? Symptoms may include:
- loss of speech
- loss of motor control
- scoliosis and fragile bones
- seizure inducing Rett episodes
- compulsive hand movements
- irregular breathing
- Apraxia or Dyspraxia (the more you try to do something the harder it becomes)
- extreme anxiety
- gastrointestinal issues
- impaired circulatory and cardiac function
- Parkinsonian tremors
In Eva's case she has some but not all of these symptoms. It doesn't mean she's missed out just that they might not have happened to her yet. There is still so much that is unknown that for the most part when weird things happen (like the time she got a fever all down one side of her body but not the other and then it swapped over a few hours later) we say 'must be just a Rett thing'.
But if it is able to be cured it could hold the key to unlocking a whole load of other neurological conditions such as Alzheimer's, Autism and Parkinsons.
We live in hope.