Imagine the symptoms of autism, cerebral palsy, Parkinson’s, epilepsy and anxiety disorders, all in one little girl. This is Rett Syndrome.
- Rett Syndrome is the most physically disabling of the autism spectrum disorders.
- It strikes at random in early childhood, affecting little girls almost exclusively.
- Many girls live into adulthood, requiring total, 24-hour-a-day care.
- There is no treatment beyond supportive, and often ineffective, measures such as feeding tubes, bracing, orthopedic and GI surgeries, and medications for anxiety and seizures.
- First recognized only 25 years ago, the prevalence of Rett Syndrome equals that of Cystic Fibrosis, Huntingtons and ALS but is vastly underfunded in comparison to those disorders
- Loss of speech and motor control
- Functional hand use replaced by compulsive hand movements
- Disordered breathing
- Severe digestive problems
- Orthopedic abnormalities including scoliosis and fragile bones
- Disrupted sleep patterns
- Extreme anxiety
- Impaired cardiac and circulatory function
- Parkinsonian tremor
This is all rather clinical and factual though. In reality, Rett Syndrome is all of these things, PLUS the heartache of being a parent watching your daughter gradually slip away from you. It is watching your little girl developing normally and beautifully, with every possibility ahead of her, and then having all of those possibilities and her future snatched away. It is having to stand by, helpless, as your little girl’s skills disappear and as she suffers, locked inside a body which fails her mind.
It is learning to smile and laugh again and, most crucially, to have hope again. For us, it is choosing not to stand by helplessly, but instead to take action to make that hope real and to fight for our daughter’s future.