Rosemary Crossley has very generously allowed me to use this excerpt from her book 'Speechless'.   Thanks Rosie!

This chapter is about two women with Rett Syndrome.
Speechless is published by Dutton, New York, 1997.

When All You Can Do Is Wring Your Hands

Bella

Bella used to sit bolt upright on a sofa at St. Nicholas Hospital, a residential institution for children labelled severely or profoundly mentally retarded, with her legs crossed.

She didn't appear as much withdrawn as anxious. She would gaze at people intently with a deep frown creasing her forehead, but she also had a shy warm smile and beautiful big eyes which would lock on to yours. She had the reverse of eye avoidance; once Bella made eye contact you couldn't leave - she gripped you with her eyes, in a way she couldn't with her hands.

She could walk, if two people supported her, but she couldn't feed herself, she couldn't do anything much - anything that is, other than wring her hands; her hands had calluses from her constant wringing.

At the time (the seventies) I interpreted her handwringing as evidence of distress at her environment, though the fact that she kept on wringing her hands even when she was smiling and appeared happy didn't really jell. She was a very pretty child (except for her distended stomach - Bella swallowed air until she looked six months pregnant).

When I saw her I'd stop and play hand games with her to try and break the wringing pattern. I had to help her play along, but she'd show pleasure. Sometimes it took half a minute after we'd stopped before the wringing started again - never longer than that, no matter how long I sat and played.

I didn't understand what was wrong.

Tara

When I first met Tara she was nearly twenty. She was lying on a divan on the patio of her parents' house.

Vivien, her mother, had heard about Anne McDonald, a young woman with cerebral palsy who communicated by spelling, and thought that Anne's methods of communication might help Tara . After all, Tara could do a lot more than Anne; she could walk (unsteadily, and with some difficulty) and feed herself (with a spoon or her fingers, messily) and Anne couldn't do either. Tara couldn't talk, though, which was why Anne and I were there.

Tara was totally unresponsive. Her face was expressionless - she didn't either make eye contact or avoid it (and a purposeful avoidance of eye contact at least indicates awareness). If she was interested in anything I was saying to her or showing to her she managed to conceal it brilliantly. It wasn't clear how much speech she understood. She did not spontaneously do anything. It was all most embarrassing. I had no suggestions to make about Tara's communication; before there can be communication there has to be a will to communicate, and Tara wasn't showing any.

Anne was as embarrassed as I was. She found the situation very difficult, and she thought Tara's parents were probably making comparisons. Tara could clearly use her body better than Anne, but Anne looks at you when you speak to her, laughs when you make a joke, smiles when she's cheerful, she's a person with whom one can interact, she's obviously there, and it wasn't at all clear that Tara was.

We made some kind of tactful excuse, made some obvious suggestions about offering Tara choices, and got away as soon as we decently could.

"Tara worried me, because she should have been better than me. I had always thought of physical skills as being a hierarchy, starting at the feet - walking, then feeding, then talking. I wanted to walk because that was the first step to talking, but here was Tara walking but totally without response, seemingly no closer to talking than me." (Anne McDonald)

Five years later, in mid-1987, DEAL Communication Centre had been running for a year. We'd found light under several surprising bushels, we had new equipment and techniques, and one of our speech pathologists who knew Tara suggested that Vivien might bring her in for another go (we've sent out a number of these recall notices over the years, when either a new communication technique or new communication technology has become available.)

The form Vivien filled in then listed Tara's diagnoses as severe intellectual disability, autism, cerebral palsy and epilepsy. The epilepsy was absolutely certain - Tara has severe epilepsy that's never been totally controlled. Tara's gait was unstable and she had a small amount of spasticity in her legs, so yes, cerebral palsy would fit. But severe intellectual disability? With the other handicaps she had, how could anybody tell? Autism? Tara didn't interact much, but then she didn't do anything much. She certainly didn't have any of the antisocial behaviours often associated with autism.

Tara's major problem seemed to be motivation. She could feed herself, but even when she was eating a meal (and she enjoyed her food) she sometimes needed a physical prompt to reach for the next mouthful.

Virtually the only other spontaneous hand movement she had was a continuous washing motion in her lap, rubbing hand against hand. Handwringing was a very dominant pattern. Tara's mother described how Tara would sometimes stop feeding herself to wring her hands, even though she was clearly hungry and in fact had her eyes fixed on the piece of food she'd been reaching for when the wringing intervened.

On the rare occasions when she did try to do something else with her hands she had a significant intention tremor - her hands shook - making it hard for her to make accurate movements.

We wanted to see if Tara could point. The first step in assessment was to separate her hands (to give her something to point with) and to stabilise her arm (to inhibit the tremor).

Her face was still virtually expressionless, but with this amount of assistance she was able to work her way through a number of tasks on the Talking Computer that showed she could recognise pictures, shapes and written words.

I finally asked her to make as long a sentence as she could from a display of written words on the Talking Computer. She beat the existing record of fifteen words by composing "I see the small cat and the big dog by the green tree and the red car". Touching the last word she smiled delightfully, the first smile I had ever seen from her.

At her second visit Tara went on to show reading and spelling skills. As a child Tara had been given a lot of exposure to flash cards and books, but because she couldn't talk it had been unclear how much she was taking in. She often sat with a magazine on her lap, but she had difficulty turning the pages. It wasn't clear whether she was interested at all, much less whether she was looking at the words or just the pictures.

During Tara's second visit to DEAL we tried a headpointer. This was slightly easier for Tara than using her hand, but it was tiring and slow and she needed to have her head steadied to achieve any worthwhile speed. She typed more quickly with my hand on her shoulder, which stabilised her trunk and gave her more proprioceptive feedback, but had no direct influence on her head movement. It was not simply that the stabilisation made Tara more accurate; it also appeared to provide some of the oomph Tara was lacking. She moved more quickly and she kept going longer.

Between her epilepsy and the drugs she took for it, however, she was effectively narcoleptic, falling asleep uncontrollably. Every now and again she would suddenly drop off to sleep with no warning. We spent about half of every session waiting for her to wake up again.

It was clear that Tara had severe initiation problems. She had almost as much difficulty in moving as Sack's Parkinsonian patients in Awakenings. Until now all anybody had expected from her was that she would lie on a divan doing nothing, and the fact that she wasn't doing anything wasn't remarkable. Now she was commenting on life around her, and the fact that she wasn't otherwise interacting with her world was more remarkable.

If you can move your eyes reliably you can spell out words on eye-pointing boards, but Tara seemed to have apraxia of gaze; her eyes would get stuck in one position.

If you can work one switch reliably you can work a computer, but Tara couldn't work a switch reliably - she couldn't get her muscles started to perform the necessary movement in the time allowed.

We kept on experimenting with different arrangements of switches, headpointers, and hand use, trying to work out what would be easiest for Tara.

She used her headpointer to spell out GO AFTER HAND, so we took off the headpointer and tried her hand again.

She still couldn't reliably extend a single finger, so she had to use a pointer. To make the pointer easier for Tara to grasp we stuck it into a foam rubber ball . Tara could hold it, but even with me supporting her arm she just couldn't make the pointer go where it should. She had virtually no movement from one side of the communication display to the other. I'd ask her to point to the far left side, and nothing much would happen for a while. After a minute or so there might be a slight movement, and I'd help her arm over. Then I'd ask her to point to the right side, and nothing remotely functional would happen at all.

If Tara hadn't already used the headpointer to spell, and if she hadn't through that spelling already shown good comprehension, I would probably have thought that Tara simply didn't understand what I was asking her to do.

We crept through IM SORRY GIVE U. I didn't need much encouragement. When Tara started moving her hand and the pointer towards her mouth that was all I really needed to demonstrate the full extent of her incapacity to function, and I was quite ready to give up altogether. I thought "Oh, all right, Tara, that's it.".

People like Tara give you very little facial feedback, they do look dull, and it's very easy to lose confidence in their abilities, particularly if your negative visual impressions are reinforced by inappropriate behaviour. If Tara had sucked the pointer I really would have wondered if I'd imagined the spelling.

Tara didn't suck the pointer, or even put it in her mouth. She lifted it up, changed its angle, and put it down clearly and forcibly on the P. For the rest of the session Tara spelled by taking the pointer back to her mouth between letters and directing it on the downward movement. I CAN DO IT I LIKE TYPING.

Her spelling was relatively quick; using the headpointer Tara could get out five words an hour, with the handpointer she got out twenty.

It was fascinating. Tara had only one purposeful repeatable hand movement, and that was feeding herself, a movement she had been taught co-actively as a toddler. What she was doing was almost a textbook demonstration of apraxia. MOTIVATION IS PRESENT, BUT I CAN'T MOVE.

Tara appeared to have no paralysis that would prevent her moving her arm from side to side, and the way she used the pointer once she worked out this novel technique made it perfectly clear that she understood what I was asking her to do, but she simply hadn't been able to do it until she made use of the one functional motor program she did have involving her hand. She could take her hand to her mouth and put it down again to pick up another piece of food, and she was able to direct that movement.

In 1989, when she was twenty-five, Tara was finally given a name to put to her handicap. She was diagnosed as having Rett syndrome.

Rett syndrome is an uncommon degenerative condition of unknown cause. The syndrome was first described by a Dr. Andreas Rett, an Austrian, in 1965, but it wasn't until 1983 that articles on the syndrome were published in English-language medical journals.

It affects only girls . The girls appear normal at birth and for the first six months or so thereafter. Their hand use, social responses and initiation are normal, and they hit their first milestones on time. Then skill development stops, they appear to lose interest in playing, and their muscle tone often becomes very low. Repetitive hand movements, especially hand washing or wringing movements, take over from the wide range of hand movements of the typical infant.

As the cause of Rett syndrome is still unknown and there is no specific remedy the late diagnosis made no practical difference to Tara.

It's a moot point, in fact, whether the diagnosis of conditions like Rett syndrome - conditions whose outcomes are bleak and for which there is no cure - actually helps parents at all although some parents of children with disabilities say that a certain diagnosis, even a pessimistic diagnosis, is preferable to uncertainty. Still, when I heard about Rett syndrome it did explain a lot about Bella - well, at least I could name her condition, even if I still didn't know what lay behind those beautiful wide brown eyes.

Fortunately, Tara's parents were keen amateur film-makers. They had a full and detailed visual record of Tara's life, starting even before she'd left the maternity hospital.

Real life isn't a movie, and at first Tara's parents didn't notice that she was deteriorating - they thought she'd just hit one of those plateaux that babies sometimes have. She was still bright and responsive, and it wasn't obvious that she wasn't doing as much as other children of her age.

But slowly her milestones got further and further behind, slowly the purposeful use of her hands stopped and the characteristic handwringing started.

When all the pieces of film showing Tara growing up were edited together you could see, heartbreakingly, the changes.

The beautiful baby, the infant playing and babbling, the sociable one-year old watching other children playing (with the knowledge of hindsight you notice the restricted hand movements, the start of hand wringing), the passive but still smiling two year old, the generally unsmiling older girl whose hands never seem to be apart.

Even so Tara's handwringing wasn't ever as bad as some of the other girls, who wring their hands every waking minute, wring them until they bleed.

The course of the Rett syndrome is very variable. After the age of one there's often a major regression. Those girls who have a few words of speech at this age usually lose them.

Eighty percent develop epileptic seizures. Their appearance and behaviour may look increasing autistic as they lose eye contact and facial expression, and their play becomes restricted to a few repetitive actions.

Between the age of two and ten the seizures tend to get worse, not better, and in those years girls with undiagnosed Rett syndrome are usually assessed as being severely intellectually impaired.

Their muscle co-ordination is generally affected, and if they are still able to walk it will be with a jerky gait. Breathing disorders are common - Tara often has breath-holding attacks when she seems to 'forget' how to breathe out.

They have weight loss, despite excellent appetites - Tara eats very well and is very thin. Many of the girls develop scoliosis or curvature of the spine - luckily, Tara's is quite mild.

Overbreathing, teethgrinding, grimacing - all these symptoms fitted Tara.

After the age of ten the deterioration generally stops, but the lost skills are only rarely regained. Some girls never lose the ability to make eye contact at all and are responsive throughout, but those who do lose eye contact are said to regain it at this stage. Tara's parents had worked hard on her eye contact when she was still a child. While she didn't actively avoid meeting peoples' eyes and often gazed with unmoving eyes at a person, it was hard to feel it was contact, partly because of her usual lack of expression. BECAUSE I CAN'T CRY, OTHER PEOPLE DON'T THINK I AM FEELING PAIN, Tara said.

Early articles about Rett syndrome all described the girls as having severe intellectual retardation associated with communication malfunction, severely impaired speech, and severely impaired understanding of language.

Nowadays the received view of intellectual functioning tends more to the 'not proven' verdict - while most of the Rett girls have severely limited speech and movements, there is an increasing recognition that these external expressive problems are not necessarily a reliable measure of understanding or processing.

Current research looks for ways for the girls to communicate and interact with their environment that do not require them to use their hands.

In our experience the receptive problems of girls with Rett syndrome have never been as severe as their extraordinarily severe expressive problems, problems which make accurate detailed intellectual assessment virtually impossible.

Tara doesn't speak at all, but her understanding of language shows no obvious defects. I can't say for certain that her receptive language is unimpaired, because the extreme laboriousness of her communication makes it difficult to justify carrying out the barrage of tests that would be necessary to find out.

Towards the end of 1991, as part of a campaign to obtain more appropriate educational services for Tara, her parents arranged for a psychologist to assess her. She used her headpointer to respond to questions from the Weschler Adult Intelligence Scale (WAIS). Testing must have been extraordinarily slow. In three sessions of two hours each she only completed three subtests.

However, her responses were good and the psychologist inferred that her intellectual capacity was at least of average level. This seems reasonable; she greeted the introduction of a puppy to her unit by spelling I HAVE BAD BALANCE - DOG OF UNSEDENTARY NATURE CAN CAUSE ACCIDENTS.

Around this time Tara's school was transformed into an adult education centre. More stimulating programs became available, at least until the budget cuts of a new government took hold a couple of years later. Tara's parents, who took her home several times a week, did everything in their power to enrich her life with music, talking books, and excursions.

In 1994, with her mother's support, Tara successfully completed a 12th grade history course at a Community College. She needed help to get books from the library, to turn pages, to get to classes, to take notes, to contribute in class and to do assignments. Her answers were short and couched in her characteristic style, as if she was writing a telegram and being charged by the word.

At the end of the day it may be that all that we can offer someone like Tara is a more stimulating program.

People with severe initiation problems may be more functionally impaired than people whose physical impairments at first sight seem far more severe. While a spinal quadriplegic, for example, may have obvious practical difficulties in getting up in the morning, he's no more likely to have trouble getting going than the rest of us. He would be unlikely to have epilepsy, and would avoid the side-effects of anti-convulsant medication. He may have only a small amount of movement, but that which he has got he can make work for him, starting and stopping movements when he wants to. Consequently he can operate on the world around him, typing or using a computer in a way Tara can only dream of. Socially, of course, he has the enormous advantage of having normal speech and normal facial expression. It is obvious even before he speaks that he is aware and with it.

Tara can walk, but finds it difficult to get up from a chair, so may actually move around less than if she was in a wheelchair. If she had an environmental control system she probably would not be able to use it, not because she wouldn't understand it, but because she could not get the right movements to happen at the right time.

For Tara the first step really is the hardest - it's the first step, or hand movement or head movement that she needs help with. Once started she can keep going till one of her involuntary movements intervene; for as well as lacking voluntary movement, Tara also has to contend with the problems caused by involuntary movements, hand wringing and nap attacks. For any activity other than passive watching, even turning the pages of a book, she needs someone with her to keep her going.

Until we know more about the neurological bases of initiation and inhibition, and how to adjust the settings, virtually all we can offer to Tara is a better view.