Little girls with Rett Syndrome (RS) cannot walk, talk or feed themselves, and need constant care to keep body and mind active. Kathryn Holmquist investigates this illness, often mistaken for autism, which hits three out of every 10,000 girls.
They call girls like Katie "silent angels". Katie is one of the three in 10,000 girls with Rett Syndrome, a spontaneous mutation of the X chromosome. These little girls are born normal, then around the age of 15 months begin to decline, losing interest in toys, making less contact and letting go of all they have learned in their first year of life.
Katie (aged three) cannot control her floppy body, cannot sit unsupported, cannot stand, feed herself, or speak. Often misdiagnosed as autism, due to a lack of knowledge by medical professionals, RS makes children like Katie completely immobile. Katie can move her left hand, which she constantly lifts to her mouth in a puppet movement. Yet in her bright, wandering, three-year-old eyes, there is a spark of joy and recognition. She loves company, and smiles with pleasure at the new face that has entered her family's neat, attractive 1930s semi-detached house in Limerick - a house too small to hold all the heavy equipment that Katie needs.
Katie's smile is like sunshine. There is a vibrant personality there, trapped inside a brain that does not have the ability to communicate with the outside world. When you catch her eye, it seems like she could talk, if only you could find the switch in her brain that would stimulate the connections between the neurons that control speech and movement. You can sense her frustration at not being able to communicate. You can sense her parents' eagerness to find the key to the switch.
Katie is sitting supported on her mother Noreen's knee, while in the background, Katie's big brother Ben (aged five), is racing around the house pretending to shoot aliens. His normal activity is a poignant contrast to the passivity of his sister, as she repeatedly brings her left fist to her mouth, over and over again, in a neurological reflex that no amount of discouragement can prevent.
Her mother has placed a skateboarder's elbow pad on Katie's left arm in an attempt to inhibit the motion because Katie's mouth gets very sore with the constant kneading from her little fist. Noreen is holding a beaker of juice, as she tries to teach Katie to drink by a method that Noreen has learned from Brainwave Trust, a UK organisation that comes to the Republic twice a year to assess children and teach their parents how to conduct occupational therapy and physiotherapy. Katie is not receiving these services in the State, because they are unavailable in her area.
Noreen and her husband, Terry Devlin, director of the Island Theatre Company, became involved with Brainwave in their attempt to do everything possible to stimulate Katie so she might develop basic skills. Without continuous occupational therapy and physiotherapy, Katie would stagnate. Noreen and Terry are convinced Katie understands what is going on around her. Their goal is to help her build the connections in the brain that could help her communicate with the outside world.
When Katie was first diagnosed with Rett Syndrome at the age of three, her mother, Noreen, a clinical psychologist in Limerick and the family's main breadwinner, told herself she wanted only three things for her daughter: "I want her to be able to walk, to feed herself and to be able to tell someone if she is abused." The rate of sexual abuse in institutions for children with disabilities is high.
They are so malleable and passive that they are easy prey for exploitation. And they cannot tell anyone what has happened to them.
"You have to be your child's advocate," says Noreen. Terry, who has flexible hours and is able to spend a lot of time nurturing Katie, describes the network among parents of girls with RS as "the jungle telegraph".
It's an all-too familiar story, how the parents of children with disabilities are forced to become their children's therapists and service co-ordinators, as they battle to educate service-providers and to get their children the help they need to fulfil their potential.
The perception is that all these children are automatically profoundly intellectually impaired, which is not the case. It is not possible to measure intellectual functioning in these children, as verbal ability and hand function are required for testing. However, when given the means, children with RS increasingly demonstrate comprehension beyond the level of the severely intellectually impaired - and parents, not professionals, internationally, are discovering their children's ability to recognise letters, numbers, colours and so on. Some test to the average level for letter/word recognition.
The time and care needed to raise these children is enormous, especially with both parents working, yet services are trying to mould children to their systems instead of creating services for the needs of the children and their parents. Parents are also worried about what will happen to these children, as ongoing stimulation, physiotherapy and OT can ensure learning continues throughout the lifetime of these girls (as reported by experts in the field of RS), contrary to the information being given currently to parents on diagnosis.
The Internet has become a lifeline for the couple. By sharing information and experiences with parents from all over the world, Noreen and Terry keep abreast of the latest research and therapies. Hopeful stories, such as one of a girl with RS in Australia who can read and communicate via computer, keep the parents going.
We wait patiently for Katie to touch the juice. It could take three minutes, but today it takes only seconds, which pleases Noreen. When Katie touches the container, her mother places her own hand over Katie's and helps her lift it to her mouth, saying "juice" as she does so. "Juice!" her mother smiles. Katie takes a tiny sip. Then her mother brings the container back down to her lap. Katie cannot hold the container herself.
We wait again. Katie touches the container. Her mother places her hand over Katie's again, and brings the beaker to her daughter's lips again and says "juice". Katie drinks.
Next Noreen tries with a cracker. In a "hand-over-hand" fashion, Noreen places the cracker in Katie's hand. Noreen says "num" as she lifts Katie's hand to her face. Katie opens her mouth and tries to bite down. The little girl is making a heroic effort to close her teeth on the cracker. When she does, her mother helps her break off a tiny piece. Katie mouths the morsel of cracker, not chewing so much as tasting.
And this is how it goes. Every day, day after day, trying to teach Katie the connection between beaker and juice, between cracker and biting, between biting and chewing. It is painstaking. Getting a meal into Katie by this method, which aims to help Katie make links in her brain between simple gestures, words and sensations, could easily take an hour. But this is real progress. Many girls like Katie have to be tube-fed because they cannot chew and swallow.
The snack over, Noreen straps Katie into a device that allows her to stand. To distract Katie from the unpleasant sensation of having to support her own weight, Noreen puts on a video of Bear in the Big Blue House, which Katie adores. Watching her, mesmerised by the big brown bear, you sense that she is comprehending something. Katie is concentrating hard. This is demanding work, standing for 45 minutes. Bear in the Big Blue House makes it enjoyable for Katie.
Part of the tragedy is that Katie was born "a perfect, beautiful child" . . . Her Apgar scores (an assessment of a newborn's condition in the first few minutes of life) were normal. One of the problems in diagnosing Rett Syndrome, is that the symptoms are so vague that the baby appears to be fine at first. Then, at around 15 months, a regression phase begins where the child loses everything she has learned in her first year of life.
When Noreen first learned about RS, it reminded her of the dementia in elderly patients who she had worked with while she was training in psychology. Ironically, dementia was the one area she most feared working in, because it was so painful to see. Now, she finds herself nurturing a child who, in some ways, is similar to an elderly person with Alzheimer's.
KATIE'S case is unusual in that she was six months old when her mother suspected there were problems, but the first doctor she consulted thought Katie was just "a lazy baby". A photograph of Katie, taken when she was nine months old, shows a pretty, dark-lashed, blue-eyed baby whose face is intently focused. She was a "good" baby, easy to look after.
Even at a year old, a paediatrician could see nothing wrong with Katie because she was very social, interested and alert. She was atypical of a child who is profoundly disabled. Yet at that time she could not roll over or crawl.
Noreen and Terry, who had not yet heard of RS, were mystified, until they met a "fabulous" GP, Dr Aengus McGann, who became the turning point for the family. He took an interest in Katie and his efforts ultimately led to a diagnosis of RS. Nine months later, a genetic test confirmed the condition.
Katie's future is uncertain. Many girls with RS enter a period of stability, which can occur any time up to the age of 10. While such girls lack motor co-ordination, develop scoliosis of the spine and may have seizures, other aspects greatly improve.
The girls seem more alert and less "autistic". It is as if mental agility is won at the cost of physical functioning. This period can last a lifetime. How long is that? No one can be sure, although there is one case of a woman in her 60s with RS.
The final stage of RS, which Terry and Noreen are hoping to delay for as long as possible, begins after the age of 10, when the girl is less mobile. If she can walk, she has stopped. Her feet may be swollen, cold and bluish. Some girls die suddenly in their sleep, in a scenario similar to cot death.
Noreen and Terry are focusing on the girls who thrive as best they can with their disability. The condition is attracting a huge investment in research worldwide, but it has been so neglected in the past, that only now are parents and professionals learning to make the most of the potential of these "silent angels".
Noreen and Terry are determined that Katie will get the most she can out of life. In return, Katie is already giving so much love back.
A meeting for Irish parents of children with Rett Syndrome will take place at 2 p.m. on Sat, Feb 1st, at Enable Ireland, Blackberry Lane, Limerick. Admission is free. For further information call 086-8266700. Contact RettNet at www.rettsyndrome.org