AUSSIE FAMILY REVEALS GENE SECRETS
August 2, 2005 - 6:40PM

An Australian family has played a key role in the breakthrough discovery of a gene associated with intellectual disability, that may also have implications for people with severe epilepsy and autism. Studies of the Boltwood family, of Bella Vista, in Sydney's north west, were crucial in the identification of a gene, known as CDKL5, which researchers believe will provide important new insights into how the brain works.Noel and Leita Boltwood have four children - a healthy son and daughter in their twenties and 21-year-old identical twin girls, who have different disabilities.They also had a profoundly intellectually disabled son, Glyn, who suffered daily seizures most of his life and died when he was 15.Genetic tests of the siblings have found twins Asha and Bree have defects in the CDKL5 gene, which scientists believe acts as a master switch in healthy people, turning off other genes."If it's not working normally then that means that genes are being left on inappropriately at the wrong time," explained medical geneticist John Christodoulou, of the Children's Hospital at Westmead in Sydney.
Scientists hope the discovery of the gene on the X chromosome will eventually lead to new treatments for some forms of mental retardation and possibly severe epilepsy and autism.The Boltwood family's story was central to the discovery of CDKL5. Asha suffers regular seizures and has been diagnosed with Rett Syndrome, a severe neurological disorder, and Bree has autism. Professor Christodoulou said since the discovery, researchers in the United Kingdom, Belgium, Italy and Germany had identified other patients with severe forms of Rett Syndrome who also have defects in the CDKL5 gene.
"We're currently looking at other groups of patients including those with X-linked mental retardation and individuals with autism and seizures to see whether changes in this gene are associated with their problems," Prof Christodoulou.
Geneticist Patrick Tam, of the Children's Medical Research Institute at Westmead, is continuing studies in mice to identify which genes are being left on inappropriately by mutations in the CDKL5 gene."If we can identify those, then we may be able to develop specific treatments to try and maybe switch them back off again,"
Prof Christodoulou said."We want to be able to have some sort of specific treatment in place before we go looking at a mass screening program in early infancy to try and pick these kids up before they develop problems.
"Screening tests are not available at this stage for a number of reasons. One is that there isn't any effective treatment available for Rett Syndrome." The discovery has come too late for the Boltwoods.
"From a parents' perspective, it doesn't make much difference to us. We've still got to live with the disability and struggle through every day," Mrs Boltwood said in an interview."But then we do realise how important it is and in future, it offers a lot of hope for treatments or even a cure to other families who will have children like mine.
"That's quite amazing to think that they'll be able to do something early on and these children will grow up normally."
Mrs Boltwood said when she first heard from Prof Christodoulou about the discovery of the gene it came as a relief."I was tied to searching for a reason," she said."It becomes a mission in life, I think. When John phoned me and said: 'Sit down, we've found your gene, it was like finding a long-lost family member."
Prof Christodoulou's research was done in conjunction with Jozef Gecz, of Adelaide, Perth-based Helen Leonard and Angus Clarke, of Cardiff, in Wales.
© 2005 AAP



OUR STORY



These pages are taken from a book I have written about my family over the years from notes I kept in a diary. This book is unfinished and not published. When the CDKL5 gene was discovered research into treatments and a cure could begin. I am hoping one day in the not so distant future my book will be read by families whose child has been diagnosed with a CDKL5 disorder but has been treated and grown up normally. It might interest them to hear how different things might have been for them.


1982



Glyn was born on the last day of January 1982. He came quickly on this clear fresh summers morning. He was beautiful. His dark hair curled around his ears and he gazed around the delivery room with big brown eyes. I held this little man and studied his features wondering where on earth I got the idea during my pregnancy that something was wrong with him. He was so perfect. His apgar score was 10/10 and the paediatrician even commented about how alert he was. It must have been true what I read about fluctuating hormones during pregnancy making expectant mothers overly sensitive.
On the second day as I held Glyn against my shoulder to burp him after his late night feed I felt his body go rigid for a moment then he cried. I wondered whether he had a pain so I kept rubbing his back hoping to hear a burp. I felt him stiffen once more. Again, he cried. I told the nurse on duty who said he must have eaten too much. Glyn was already getting a name for himself with his huge appetite. She said he probably had colic and not to worry, he seemed to be settling again.
On day three while I lay him on the change table he stiffened again. His face went very red and his arms and legs drew up. He cried. I fed him some more to settle him and he went to sleep. What was he doing? I had never seen anything like it with my other babies. He seemed ok in all other ways so I thought I shouldn’t be concerned after all nobody else seemed to be.
Over the next two weeks my mother had also witnessed the strange stiffening episodes that we had named ‘toad frogs’. It didn’t happen with any predictability in timing but each episode was identical to the last. The mothercraft nurse at the baby clinic told me to stop worrying and said ‘he is so healthy he makes other babies look handicapped’.’ Isn’t he a beautiful boy? Advanced like his sister and brother?’ . The paediatrician, Dr D, said the same at his six week check up and told me I was being over anxious and to go home and enjoy my lovely family. That week the episodes increased to two or three a day. They were happening just as he dosed off to sleep, usually when I was feeding him. He was now screaming after them. He would scream for hours working himself into a lather of perspiration eventually going off into a twitchy light sleep from exhaustion. Then they stopped for two weeks and I wondered whether I had being imagining them.
At nine weeks of age the mothercraft nurse remarked how strong Glyn was and ticked off his developmental milestones one by one. He smiled at six weeks and had begun to giggle in the last couple of days. His head control was strong and it looked as though he might start rolling from front to back any day now. I once again explained about the ‘toad frogs’ that were now a thing of the past and just as she was about to reassure me things were fine, Glyn let out a massive scream. He went stiff, arms and legs shot up towards his trunk, his face swelled up and changed to that horrible bright red I had just tried to explain. Then, not like other times his whole body jerked and jerked, then started shaking violently. His eyes grew huge and rolled back, his mouth distorted and foam was forced between his pretty pink lips. The noise he made now was a combination between grunting and snorting. I leant protectively over him where he lay on the examination table while the sister shouted accusingly ‘Do you mean to say THIS is what he has been doing?’ I could feel him start to relax and I clung to the table and my baby thinking I might pass out. I had never seen anything like this in my life. What was wrong?

I remember sitting next to the brown metal hospital cot where doctors are bending over a baby. It is my Glyn. Now a peacefully sleeping baby. His daddy was sitting beside me tightly holding my hand. The bright Sesame Street print curtains and nurse’s pinafores added to the already surreal feeling that enveloped me. I remember reciting what had happened since Glyn’s birth over and over to doctors and nurses. I now recognised that same feeling I’d had during my pregnancy. A feeling of doom. Something was wrong with my baby.

The paediatrician arrived and he too listened to my now down pat recital. He said a word I had only ever read about. Epilepsy.
Then tests were ordered. Blood tests, where needles were targeted into tiny baby veins leaving black bruises on Glyn’s arms and emotional bruises in my heart.

The registrar tries to find a vein, misses then tries another. Glyn’s little arm is stretched out beside him, squeezed by an elastic tourniquet decorated with cartoon character dinosaurs, made especially for children so this process seems brighter and less traumatic. Glyn is screaming in protest and my job I’m told, is to hold him still so we don’t miss the vein again.
EEG's were next. To do these I had to wrap Glyn tightly in a blanket and hold him while the technician glued electrodes onto his scalp. Later, after an hour of being hooked up to a machine that measured his brainwaves the electrodes were removed by rubbing them off with acetone, taking his baby fine hair with it. But that was nothing compared to the spinal tap that is done without anaesthetic on my naked baby’s back while he was held down in a vice like grip so the needle that was inserted into his spinal cord wouldn’t go into the wrong place and cause damage. My part in this was to whisper in his ear and stroke his cheek telling him to be brave and it would be over soon.
All test results came back negative, normal.

Dr. D. told us about medications that were used to control fits or seizures as they were now being called in this politically correct era. He said he would start Glyn on a drug called Phenobarbital. They have had good results in the past with this drug. Nine days later we took Glyn back home drowsy but ‘stabilised’. He slept most of the time but fed well and wasn’t ‘fitting’.

We have two days at home, just enough time to settle back into a routine of sorts. I settle down to feed Glyn, he looks up at me and smiles. His eyes are brown like his brother’s. Glyn screams. His arms and legs fly out. His face reddens and eyes roll back. He gives two great electric like jerks then goes limp. His face now white has perspiration beading on his forehead. My mind won’t work. What do I do? What did they say to do? Glyn does it again and again. I get to the hospital somehow. I don’t remember the drive with Glyn screaming and spasming in his car seat. I am met in casualty by a young pimply faced registrar who immediately contacts Dr. D. I feel safe now. Glyn will be okay. The doctors will fix him. This was the first of many re admissions back to the acute care ward over the next two years.
Dr D decided a case like ours was out of his league and handed us over to a Professor who changed medications and Glyn was once again stabilized. I thought now it was all going to be all right. We had a Professor taking care of things who seemed confident and optimistic. So we must too.
Each change in medication stopped the fits for a few days but each time they started again they were worse and more frequent. Even though Glyn was obviously doped from the drugs he still occasionally rolled over, held his bottles of milk that he guzzled down ravenously and gave tired watery smiles when he we spoke to him. Despite the dozens a day of ‘Infantile Spasms’ as the fits were now being called, he looked amazingly healthy. Prof assured us he was developing well so I just assumed we would find the right drug for him and he would get better.
The longest break from hospital that first year was three weeks straight. In three weeks you can certainly build your hopes up to great heights. When he was 5 months old it was decided to take him off the three drugs he was on cold turkey so another new drug could be tried on its own. Severe withdrawal symptoms that had him screaming for hours on end day and night had me pace the hospital corridors holding Glyn who was swaddled tightly in a cotton hospital blanket. I‘d sing what was now our song “Oh, dear what can the matter be?’ quietly over and over to him, telling him I loved him and promising things would get better soon.
Another drug, Cloralhydrate was ordered. This was to sedate him. It did, he slept so soundly he needed a drip to keep him from dehydrating. After a week, when his system was clear of the drugs the new one, Dilantin was introduced. It took a lot of adjusting to get the right dose so the levels were within the therapeutic range. This meant frequent blood tests which meant frequent blood draws. Glyn’s little arms were so bruised and good veins so difficult to find that they resorted to other parts of his body. Now his ankles were targeted.
When I arrived to his cotside one morning my heart sank when I bent to kiss my precious boy. Something about Glyn seemed different. His eyes were wrong. They seemed to be looking down and darted from side to side under half closed lids. His arms lay limp by his sides with fists closed tightly. I reached over the rails and grabbed him up. It was like holding a rag doll. His head rolled back and he felt twice as heavy as he had the night before. What was wrong? What had they done? More blood tests revealed the Dilantin levels had gone through the roof to reach poisonous levels. They were three times what they were meant to be. Glyn was in a coma. He stayed that way for nearly a week. I fed him by syringing his formula through a nasal gastric tube. Bathed his lifeless plump little body waiting for him to wake up. When he did he wasn’t the same baby I knew. He didn’t smile anymore, couldn’t see anymore and he stayed like a limp rag doll. An ophthalmologist declared him cortically blind. That means ‘brain blind’. It meant his brain was not processing messages properly.
The Dilantin was stopped and Rivotril started. We went home again. I now found it difficult to get him to eat and his sucking reflex had gone. I would sit for hours syringing nourishment into him.
At about seven months he was taken off the Rivotril and put back on one of the earlier drugs we had tried. I noticed an improvement each day. He rolled from his back to his tummy one day and the next he started smiling again. His fits were less frequent, only about twenty a day now. Once again he had pulled through. I was filled with hope. Maybe this time we would go home for good and resume the idyllic life we lived before Glyn arrived.
But as we were now coming to expect the seizures couldn’t be controlled for very long. The fit chart was now showing 200 plus a day. The latest EEG unlike the previous normal results now showed a brain wave pattern called hypsarrythmia. The following day we began a course of steroid injections. The steroid ACTH was used with trepidation because of the serious side effects it caused. High blood pressure, suppressed immunity and fluid retention were the most serious. However, it was the only known treatment for this rare form of epilepsy.
Glyn developed a high temperature. He became very ill very quickly and once again I bundled him up and took him back to the hospital. Glyn was admitted with a new diagnosis. Not seizures this time. He had pneumonia. A legacy of the steroids we are told.

The Professor told us about a special diet that sometimes helped children who had seizures. It was an old fashioned treatment rarely used since the newer more effective and easy to administer drugs had been developed. It was called the Ketogenic diet and was said to be unpalatable and unhealthy being made up of 95% fat and small amounts of protein and carbohydrate. The meals were so small and odd looking, a few teaspoons of spinach or pumpkin a great dollop of cream, butter and a special oil called MCT with a speck of chicken. To start the diet Glyn had to be fasted for three days. He was only allowed diet jelly and cordial to get him into a state of ketosis. This went straight through him with his nappies filled with technicolour diarrhoea.
Ketones are the particles left when fat is burnt body the body for it’s fuel. These particles are thought to travel in the bloodstream to the brain where they have a calming effect. He lasted on the diet three weeks. Vomiting and diarrhoea then another bout of pneumonia was too much for already over taxed little system. So we never knew whether the diet would be the miracle treatment that would stop his relentless seizures.

Glyn was now 10 months old and over that time in hospital I had made a very strong friendship with another mother whose baby girl was having seizures. One morning she came over to me in a fluster of excitement. ‘Read this’ she said showing me a small article in the morning paper. It was about a therapy program designed to treat brain injured children. It claimed that by doing a specific program of excises the brain could rebuild itself and the child would learn to develop the milestones it hadn’t yet reached. We phoned the number in Melbourne and were told the next round of lectures and assessments to be held in Sydney would be a month away. Meanwhile as well as finding the money to pay for the program, we needed to find a team of volunteers who would work in shifts six hours a day six days a week. A daunting project. But it held such promise.
I would do it.
As the month went by I had 35 replies to the letterbox drop I had done in my neighbourhood and at local churches. The flyer said simply ‘Hi my name is Glyn. I am ten months old and I desperately need your help. I am about to begin a therapy program that will make me well. Can you help? ‘
Everyone who came fell in love with my handsome little boy. Everyone agreed to give 3hours of their week every week to helping Glyn.
There was a series of lectures over 2 days given by a very energetic American man telling us how the brain was able to repair itself if given the right stimulation and environment. The way he talked sounded as though he knew us personally. I am sure the other thirty or so parents in the audience had the same feelings. He said the younger the child started on the program the better. Glyn was only 11 months old. Could he catch up and learn to sit, crawl and then walk and talk like he should be at this age?
Glyn was assessed on the third day and an individually designed program explained to us on the fourth. It had been an intense 4 days and I was raring to start. We took Glyn home feeling positive for the first time in months.
The dining room was converted into a gym of sorts. A carpenter friend made the equipment we needed. This consisted of a long wide wooden slide that Glyn would be encouraged to move down, teaching him to propel himself forward. A light box he would lie in that was lined with aluminium foil and had a flood light that flashed on and off would waken his visual pathways. The dining table was covered in vinyl and became a patterning table where Glyn was put through hours of movements that mimicked crawling that would imprint on his brain and eventually teach him to crawl. He was also swung and rocked. Sung to and shown flashcards and ‘masked’ . Six hours a day six days a week.
Besides the therapy program I was driven to find any other help that would cure my son of these seizures. These seizures that had stolen his smile and sight and the strength in his limbs were now invading his ability to breathe, use his bowels and even cry. I grasped hold of words on the radio or television, conversations with those who had been treated and fixed by alternative therapists. I learnt about homeopathy, naturopathy, bio chemistry, acupuncture, chiropractic and osteopathy. My little boy was promised so much by these people and by me who believed that one of these treatments would be the one. I couldn’t not try a certain treatment in fear that it might be ‘the cure’. I was also scared that maybe the anti-convulsion drugs were doing him more harm than good. Were these drugs responsible for his regression? They are given to treat a problem in the brain by changing the brain’s chemistry so why couldn’t they cause a problem instead? The lists of side effects for any of these drugs included things like psychosis, liver toxicity, visual disturbances, constipation, digestive, breathing, heart and skin problems. How were the doctors so sure Glyn wasn’t suffering from these side effects and it wasn’t the seizures they said that were doing the damage? These fears were supported by the alternative therapists. They were horrified by the growing list of medications Glyn was being exposed to. He needed a more natural gentle approach they said. Not once was it implied Glyn would never be cured. Not by either side of the medical spectrum. So because of that I lived with what I now know as false hope. Each night as I lay in bed, with the inevitable familiar tears running down onto my pillow, my mind was invaded by questions. I’d go over and over the day, the week, and the previous months asking what if? And why? What if Glyn had been treated by different doctors –maybe someone out there would have one look at him and say ‘I know what’s wrong here. This is what we do to fix children like this’. Maybe if the nurses had realized that the ‘colic’ Glyn had soon after birth were seizures and treatment started early we could have ‘nipped it in the bud’ and things wouldn’t have progressed so far. What if we tried this therapy or that therapy? What if I had taken more care of my diet and exercised more or even less? Or was I exposed to something toxic during my pregnancy that had damaged my baby? And the questions always lead to the same conclusion - Why me? Why my baby? Then the next day would come always after a night of broken sleep. Glyn’s seizures didn’t abate just because the world slept. From the depths of a dream I would be dragged up to consciousness by the ‘unique ‘scream that began a seizure. A sound all of its own. Not mistaken as one of pain or fear. I would gather my baby up after he had been invaded by the demons that wrenched every muscle in his baby soft body over and over leaving him limp and exhausted with his shiny soft auburn tinged hair wet with perspiration, sticking to his scalp. My tears dripping to mix with the sadness of it all.
As the sun came up I would start to make plans. An eternal optimist, I would always start the day with hope. Maybe today was the day. Maybe some of my questions would be answered.

The therapy program continued when it could. It was a stop start affair because of Glyn’s health. We lasted about ten months and decided to call it quits. I kept the equipment in case we could resume it further down the track.

Glyn’s trips to hospital weren’t as frequent now. Not because he was better in any way. It was just that we had learnt to live with it to a degree. I was as familiar as the nursing staff with his treatments and had gained confidence in caring for him by myself. The daily ‘normal’ seizures were a routine thing. Each one would still be a blow that made me want to cry but they were not as alarming.

The Sister in charge of the paediatric ward came over to me one day when I was standing gazing down at my sleeping toddler. A toddler who couldn’t even hold the weight of his own head up for long let alone ‘toddle’. It was a particularly bad day and I was crying yet again. Silent tears that needed to be released after being held back all day, waiting for a quiet moment when I was alone and no one could see me.
‘Leita,’ she said gently,’ you are going to just have to accept Glyn is a fitter and that will probably never change. He is probably always going to be like this, but look at him he is still your beautiful baby boy. That will never change.’
It was like she had just handed us a death sentence. The grim reaper. I hated her.



1983



Friends visited with their beautiful new baby girl who dazzled us. She was responsible for putting the idea of having another baby in our minds. I discussed the idea with Prof. I was worried about the possibility of having another baby with ‘problems’. He told me Glyn was one in a million. He said it would be a great idea to have another baby. It would give us something positive in our lives to concentrate on.

An ultrasound at eight weeks showed two heartbeats. We were over the moon with happiness. Maybe this was God’s way of showing us that life wasn’t so bad after all.
I grew very big very quickly and found it difficult to lift Glyn who now at two years of age still needed everything doing for him that a newborn needed. The twins were very active and seemed to take turns playing, so I had almost constant movement going on inside that huge bump that housed them.
Even though the private hospital where Glyn was born could accommodate me, my obstetrician thought it would be a good idea to have the twins at the large public hospital where the facilities were more advanced and able to cope with unforeseen emergencies. She said twin deliveries held more risks than single deliveries. She was obviously covering her butt in case something happened during the delivery. It was still not known what had caused Glyn’s problems.I guess the obstetrician thought I was enough of a risk to pass me on to someone else.
The hospital was the same one we had just spent nearly all the past two years in. Another floor, but the same uniforms and furnishings brought back many bad memories. It was convenient though as Glyn still had regular appointments and the odd admission there when his asthma got out of control.

One of the appointments was with a geneticist. All the chromosome studies that had been done on Glyn had come back negative. However, research was uncovering new mutations all the time.
Dr P sauntered into the room with a trail of medical students behind him. Glyn had been stripped down to his nappy and was lying contently across my lap drinking a bottle of milk. Without any acknowledgment to either of us Dr. P flicked his finger against Glyn’s leg on a pale patch of skin that stood out against his tan and said ‘Tuberous Sclerosis’ He then turned and walked back out of the room.
Was that it? I gathered Glyn up and ran out after him “What does that mean? “ I asked as he kept walking down the corridor. “You would be best to discuss that with his doctor at your next visit.” He said without making eye contact.
Then the pompous shit of a man with his white coated entourage disappeared into the lift. I could only hope the lesson of the day for the medical students was entitled ‘How not to treat a patient’ and Dr P. was giving them an example. But somehow I don’t think this was the case.
I went directly to the hospital library and looked up Tuberous Sclerosis. “Tuber like growths on the brain and any other organ.’ ’Seizures’ and ‘a red rash across the face’ ‘ Some of the symptoms that lead to a diagnosis included ‘ ash leaf shaped birthmarks on the limbs’ This is what had obviously caught Dr. P’s eye. I couldn’t read any further. This sounded awful. He couldn’t have this. I desperately tried to phone Prof but was told he was out of the country for two weeks. I would have to wait until he came back before I could be told any more.
As it turned out the pompous Dr. P was wrong. But that didn’t take away the anguish I had suffered over that fortnight. I still see that man walking the corridors of the hospital and it upsets me to imagine how many parents’ lives he has destroyed.



1984
I was seven months pregnant now, more than huge when I went into premature labour. I was put on a drip that stopped the contractions. An ultra sound revealed the twins, were laying transverse and the breech. It was decided that when the time did come they would be born by caesarean section. It also accidently revealed their sex. I kept it a secret. I didn’t want to be disappointed if I was wrong. Not that I didn’t want to have boys. It was just that we were told that Glyns’s problems were more likely to happen in a male than a female. Males were supposedly more prone to being born with inbuilt problems. So, having girls meant there was even less of a chance of any problems this time. It was something that niggled in the back of my mind even after being reassured numerous times that these babies would be just fine.

My first glimpse of them was through the perspex incubators my mind still foggy and eyes unfocused. Asha’s little legs were at a strange frog like angle caused by the way she had been laying inside me. My heart missed a beat when I saw her. Something deep inside me said something was wrong. Bree, already wearing a pink dolly hat was the smaller twin. I didn’t have that feeling when I looked at her.
The first feeds were difficult. Asha was a dream and just cuddled into me suckling away contentedly. Bree was the opposite, struggling to push herself away from me screaming in rage. The nursing staff tried to help by holding her head and directing it toward the nipple but she would have none of that. It wasn’t until we were left alone and I let her lead the way that she got her first taste of nourishment.

We got through the first few weeks in a blur. I now had three bottoms that needed changing. Glyn’s looked so big now compared to his baby sister’s. He also needed physio therapy exercises. chest percussion therapy, nebulisers and medication. The twins did what all new borns do but the work load was doubled having two.

They were nine weeks old now and I had begun to wean them onto a bottle. Bree dozed off to sleep so I took her into our bedroom where they shared a bassinette. I went out to get Asha from her daddy who was feeding her. As I reached out to take her she stiffened, her arms raised above her head which bent forward slightly. It was very brief but it matched the imprint that was permanently etched in my mind of Glyn when he was the exact same age. ”Oh no, Oh no.” Panicking, I grabbed her and held her close to my chest. Noel and I stared at each other not wanting to believe what we had both just seen.

Prof was on the other end of the phone. I tried to be calm as I told him what had just happened. Talking in an infuriatingly patronizing tone he said “Listen Leita, you are obviously very nervous about the babies having a problem. Any little twitch will be startling to you after the past two years you’ve had with Glyn. But if you are still concerned enough to bring her down to the hospital we will take a look at her for you.”

I was sitting on a chair in a Sesame Street curtained room holding Asha in my arms as Prof, his registrars and a couple of the ward nurses stood around trying to reassure me. I could hardly hear what they were saying through the sound of the blood pumping in my veins. I was terrified. They were saying similar things to what Prof had said earlier on the phone. I was being told I should go home and relax. I had been through hell and back over the past two and a half years. Of course my nerves were frayed. As if on cue Asha’s arms and legs shot up, her eyes rolled back slightly then she relaxed. Two of the nurses and the registrars stepped backward in shock. Prof had tears in his eyes.
I wondered where God was. No one could talk to me. They were as upset as I was. We all just stayed that way for a few minutes digesting what this meant.
We were told because Asha and Bree were identical it was more than likely Bree would start having spasms too.
Asha was started on a drug called Mogadon. Then we took her home. .

I didn’t leave them alone for a minute. I watched their every move. Every little baby twitch sent alarm bells ringing. One week went by, then two. We started to relax. The spasms Asha had were milder than Glyn’s, maybe because we caught them early and started her on medication straight away we stopped them. Then at eleven weeks of age she had a cluster of spasms lasting fifteen minutes. Both babies were admitted to hospital for tests. All tests had come back negative. I was told they had been perfect little angels and not to worry, look at them they were so bright and healthy. Nothing could be wrong with them.
De Ja Vu . This time I had something to go by. Experience from the last two and a half years to guide me. I had a script to follow. I had written it myself. So I just got on with it. I was living on a knife’s edge though. Waiting to hear the scream that announced a seizure, the wheezing that came before an asthma attack, the crying of hungry or wet babies.The everyday happenings of my two older children. I had gone into an automatic mode and the more I did the more I found to do.


Thank goodness friends still dropped in. Their children scattering toys and crumbs around as we sat over coffee and cigarettes. These visits were my lifeline to the other world. A world of fading memories where books and baby clinic nurses gave you advice for bringing up ‘normal’ children.

Early intervention therapists came twice a week to instruct me how to position Glyn so his limbs would stay straight and avoid contractures. How to feed him so he didn’t choke and aspirate his meals into his lungs. And how to give him chest therapy to loosen the thick phlegm that sat in his lungs and caused the now frequent bouts of pneumonia. I was expected to take him through a series of exercises each morning and afternoon and again in the evening if I could fit it in.

1985



Asha’s pattern of spasms was different to Glyn’s. They were still identical in type but nowhere as near as often. I didn’t want to get onto the same roller coaster of drugs with her. I was scared they had done Glyn more harm than good.
Her next hospital admission wasn’t until she was eight months old when the spasms began to intensify out of the blue. While she was there it was decided both she and Glyn should have a bowel biopsy to rule out some forms of genetic disorders. Finding a reason for their problems might lead to better, more specific treatments.
Before I signed consent forms for them to undergo the procedure. I was informed of the dangers of general anesthetics which were even more risky for my children who had epilepsy and Glyn who had asthma. They were prepped at the same time and I kissed them goodbye one after the other as they were wheeled away. I sat and cried until a nurse came and told me they were in recovery doing well.


Despite the medications making Asha sleep most of the day, Prof said she was developing on schedule. I had my doubts but my hopes were stronger so I decided to accept his prognosis.
The following week the spasms increased with a vengence. Prof told me to call him on his home number anytime I was concerned. It was Saturday afternoon and I obviously interrupted his leisure time. When I asked him for advice about Asha he very curtly told me ‘You do what you think .. You have had a lot of experience with kids like this.”
I hung up the phone and didn’t talk to the man again for 13 years.

1986

Dr. J, the pediatric neurologist whose care Asha was now under dictated her report . She watched as Asha, sitting on the floor, was shaking her head from side to side blowing raspberries, eyes unfocussed and oblivious to us all.

“Ten and a half month old female. History of intractable Infantile Spasms. Displaying bizarre behaviour. No formal diagnosis.” That was it in a nutshell. My baby was labeled bizarre with uncontrolled seizures and no one could tell me why.
Dr. J admitted Asha to the Children’ Hospital to start her on a coarse of ACTH. The hospital was too far away from home for me to travel each day. I didn’t want to leave her there alone so I arranged for Glyn to be cared for in a Babies Hospital that cared for disabled and terminally ill babies.
I refused to give the ACTH injections this time. A community nurse was organized to call each day at a time when I knew Neisha and Blair wouldn’t be there to witness their much loved baby sister screaming in pain.
I have a photograph taken of Asha and Bree on their first birthday wearing lacy pink dresses crocheted by Noel’s mother. The twins didn’t look like twins anymore let alone identical. Asha, blown up like a sumo wrestler and crying day and night was suffering from the side effects of the steriods. Bree was pretty, petite and beaming at the camera.

Even though Glyn was now getting regular respite at the babies hospital, my physical workload hadn’t lessened much because Asha’s needs were greater than ever.
When I sought answers to why my children were this way I was given answers form Glyn being one in a million to Asha being deprived of oxygen during the pregnancy when Bree must have cut of the blood flow through Asha’s umbilical cord by leaning on it. Coming from the neurologist I had to believe it. This was the only explaneishaion she could come up with for the twins being identical yet dso different. But it didn’t explain how Asha and Glyn were so alike.
The ACTH injections were a failure. Asha’s immunity was now lowered and she easily contracted the measles which made her even more miserable.
Then when Bree came down with them we were told not to go near the babies hospital until we were sure we were clear of them. My regular visits to Glyn were a no, no.
When he did come home three weeks later he was sporting a pair of bright blue casts on his ankles to stretch his achilles tendons that were causing his feet to drop, a common symptom of Cerebral Palsy - another diagnosis that had been added to his other conditions.
His full title was now Intractable Epilepsy, Developmental Delay, Cortical Blindness, Asthma and Cerebral Palsy. As he got older reflux, scolioisis and contractures developed. . . Bree was a funny little baby. She crawled around the house after the other kids, who more often than not included our neighbours children, like a wind up doll, chatting away to herself in her own tongue. My friend's baby who was only two weeks younger had been walking almost three months and Bree showed no sign of wanting to. I put her lateness down to her prematurity and petite size. Asha was only rolling and very occasionally crawled a short distance to retrieve her bottle when it rolled away from her grasp. Having gone through so much with Glyn I didn’t want to think Bree was also having problems so I put those fears to the back of my mind.

On Christmas day, aged 17 months Bree decided today was the day. Her Christmas present to me was to stand up and walk. Right out of the blue as though she had been secretly practicing for weeks. She walked all day, once again looking a bit like a wind up doll and we got it all on video. The next, morning she reverted back to crawling and didn’t walk again for six weeks this time on my 30th birthday. There was no stopping her this time with her little dolly legs going at a hundred miles an hour trying to keep up the kids.
She definately had a unique personality. Happy to play long side others on her own with her own made up games. Toys were only objects to be packed and unpacked into boxes and this she would do for hours all the time chatting away in her own lingo with an occasional recognisable word thrown in. When interrupted she screamed and threw herself on the floor thrashing and kicking in rage. Neisha and Blair didn’t help by provoking these outbursts just for the fun of it as siblings do.
Loud noises were intolerable to her. The vacuum cleaner , kitchen appliances, hair dryer and even water running in the bath sent her screaming off in fear to hide under her blankets on her bed. The lawn mower was the worst. Even those used down the other end of the street. Poor Blair was forbidden to use his electric car set and of course that was the one toy he really wanted to play with and nagged me incessantly for it daily.
As well as these idiosyncrasies she was an extremely poor sleeper and very fussy eater. Most nights she ended up in bed with us tossing and turning, sitting up and lying down over and over. Then as morning came she went into a deep angelic sleep just as we were getting up to start the day. Her diet developed into a short list of foods all pale in colour and bland in flavour. Milk, juice, yogurt, cheese, bananas , white bread, potatoes, Arrowroot biscuits and weetbix were her staples . However I always put a proper meal out for her hoping she would try something new one day.

On Glyn’s third birthday I was jolted by the realization that he was no longer a baby but a little boy. He hadn’t progressed out of baby hood and indeed needed even more care than a newborn. It was then when I first realized my son was labeled ‘disabled’. This revelation came as a huge shock. In the back of my mind I always held hope that he would recover from his ailment. I had only ever been exposed to conditions that were fixable.
Unspoken promises had been made to me by his doctors, that this next drug or next therapy would be ‘the one’ to restore his health and give me back my baby, whole and well. After all isn’t that what doctors did? Heal the sick?
I had also been lead to believe that if I kept up my end of the deal by doing all the therapy, exercises and treatments I would be part of this cure. I had failed. What if I had done more? Would that have helped? If I hadn’t had the twins and spent all my time with him instead maybe he would be better.
I began a new phase of grieving on his third birthday. I had lost my baby and with that my hopes. I now saw Glyn through different eyes. I felt even more powerless, more helpless and my heart sank whenever I thought of him.


1987


When Bree and Asha were old enough for pre-school they were to be separated for the first time in their lives. Asha was enrolled in a ‘special needs’ school and Bree was to go to the local pre-school .
Bree’s first morning was traumatic for her. She screamed. Clung to me and had to be peeled out of the grasp she had on me. I was told to leave her and she would settle down. I drove off with the sounds of her screaming echoing in my head. When I arrived to pick her up five hours later she was still screaming. She had been all day. When she caught sight of me walking in through the gate she stopped, just like a switch had turned her off. Her teachers said they had never come across a child like her before. Once the mother left, most children calmed down they said. Bree didn’t speak or make eye contact with me for the rest of the day. Was she punishing me for leaving her?


The next morning when she woke up she said brightly “Am I going to pre-school today? I like pre-school”.
It was decided that I should stay with her and gradually get her used to being left without me for increasing lengths of time. Then one day, out of the blue she announced she wanted to walk in by herself like the rest of the kids. This was so typical of her. Something that seemed a huge hurdle in her life one day was accepted by her the next and then there was no looking back.

From then on she was ‘like the other kids’. Except for one thing, she never spoke while she was there. Her teachers doubted she could talk and I had to record her talking at home to prove to them she could. Her speech was still very immature compared to her peers but she made her needs understood to those who were familiar with her.

She also only wanted to be with one particular little girl who became her role model. Disha was a dear little Indian girl as dark as Bree was fair. Disha also didn’t talk much as her English was very limited. Bree watched and copied her little friend taking cues from her all day from colouring pictures to sand play to music. Whatever Disha did Bree shadowed. At home her conversations were punctuated with Disha this and Disha that for the next two years Bree was at preschool. Concern about her unusual speech pattern lead us to an appointment with a speech pathologist at the hospital. Bree spent the entire session with her head buried in her arms resting on the table and the pathologist said in exasperation that it was wasting her time and maybe we should have her assessed for autism. I chose not to hear this comment. How on earth could someone judge my Bree who was so social and affectionate to her family as autistic? Weren’t autistic children detached from their surroundings and in fear of affection?
Following this assessment a written report was sent to the pre-school stating Bree was a ‘selective mute’. Towards the end of the year I was greeted at the gate by her teacher who excitedly told me Bree was talking. During a craft session when a group of children were sitting around a table cutting out shapes Bree announced in a loud voice, “I can talk you know. I talk at home” All her little friends were gobsmacked. She was now the center of attention and had instantly become the class favourite. The following week at rest time she was removed to a quiet corner so the other children had a chance to sleep. Once Bree decided to talk there was no stopping her and we have been saying “be quiet Bree ever since”.
Asha’s pre-school class was made up of six children all in need of one to one guidance. She was very disinterested in all the class activities . All she wanted to do was suck on her hands or blow raspberries, except for meal times. Food had become her only motivator and her teacher used it as a tool to get her to participate in her program. One of her ‘lessons’ was self feeding skills. Her lunchtime sandwiches were placed on a plate in front of her and she was expected to pick them up one by one with a correct pincher grasp. Asha could now only rake her hand across the plate and grasp the odd sandwich that she made contact with, as more often than not the others were knocked onto the floor. We became very concerned about Asha losing weight that year and it wasn’t until I witnessed her lesson in self feeding that I realized why. Most of the food I sent in for her each day was swept off the floor and put in the rubbish bin. I always made a point of being part of my children’s programs from then on as this episode made me realize that I couldn’t trust all their caregivers to have common sense. The Baby’s Hospital called me one day to say Glyn couldn’t stay there any longer. Our Private Health Care Insurance wouldn’t cover the cost of keeping him them anymore. The hospital was for short term care. Babies cared for there were expected to be either relocated or die after a certain length of time. I had one month to relocate him. This couldn’t have happened at a worse time for me as Asha had just been admitted to hospital to try and stabilize her worsening seizures. This had made Bree very unsettled because her home life was disrupted and she showed this by staying up most of the night wandering the house turning lights and the television on and off . If I tried to put her to bed she screamed and woke Neisha and Blair. My anxiety rose to panic level as I tried to imagine bringing Glyn back home to live. As much I wanted him home where he belonged it was not an option, He needed around the clock care by medically trained people because of his worsening seizures and respiratory problems and I was not equipped to give him that level of care.
After six weeks of telephone calls begging and pleading for help and what seemed like daily interrogation by social workers and case managers who wanted me to prove to them why I couldn’t care for my son, Glyn was given a placement in a large government run 'institution'.
We moved Glyn and his belongings there one sad day. The grey floored , disinfectant smelling atmosphere made me want to gather him up and run home. Instead, I put on a brave face and kissed him goodbye promising to return the next day to see how he’d settled in. I cried so hard that night I vomited. Have you heard of people’s hearts aching? Mine was constantly torn and the pain almost unbearable. The only thing that kept me going was knowing I had to be there for all my children and had to make choices that hurt so, so much. Choices that were right for all of them at that given time, in that particular set of circumstances. I also had to jump through hoops that other people put in front of me. No one wanted me to get anything easily it seemed. They all had their own ideas on who would get what services and it all had to do with money, human rights and their own personal beliefs. Never mind that I was a young mother of five children, with two maybe three having special needs. It was as though they said to themselves ‘make her fight for this and if she fights long and hard enough to convince us she needs help maybe then we will help her.’
At times I began to doubt my own emotions. Maybe things weren’t as bad as they seemed. If these people didn’t believe me maybe I was wrong and should be coping better? Do other people in similar situations cope better? It was years before I realized there were very few people in a similar situation. Glyn touched the hearts of all the nursing staff in Unit 2 and became their baby. He was part of a new family now. At five and a half years old he was the youngest of twelve in his ward with ages ranging up to their late twenties. All were much loved and tenderly cared for despite the clinical surroundings. I got to know them all and thought of them as Glyn’s other brothers and sisters over the years he lived there.


Asha’s seizures seemed to be brought under control by yet another medication change but the side effects of this drug made her even more irritable and fussy than before. She wouldn’t eat anything but strawberry yogurt and cried for her bottle constantly. I carried her around on my hip to comfort her most of the day and was told by her physical therapist that she would never learn to walk if I didn’t put her down. She said there was no reason she could see that was stopping Asha from walking and I needed to put more time into teaching her. I am not sure where I was expected to find more time in my day when it was already over full and Asha screamed and cried endlessly whenever I wasn’t holding her.

We’d attended a therapy session once a week at a grand old sandstone house surrounded by hydrangea filled gardens. I arranged our appointment for when Bree was at pre-school so my full attention was on Asha. I sat in the waiting room watching other mothers arrive and leave with their children. Watching for a child who looked similar to Asha. All others seemed ‘more with it’ and interested in what was happening around them. I seemed to have the only child that needed to be carried. The only child who blew raspberries and sucked her hands constantly. The others played with toys offered to them, smiled into the eyes of the therapists, spoke and babbled.

Asha sat at a little table that had a semi circle cut out of it to fit around her middle to give her support. the therapist sat opposite to get her attention. Asha gave fleeting sideways glances but no smiles, she more interested in having her hands in her mouth. The therapist held Asha’s hands and guided them to play with some toys that were obviously specially designed to stimulate and entertain.
Asha screamed. The more toys that were produced and the more the therapist tried to get Asha’s attention the more Asha struggled and cried. She arched her back and chewed her hands as tears streamed down her hot red cheeks. The toys were knocked onto the floor. After twenty minutes the therapist laughing nervously said 'Well, I can usually get them to settle and play but this one is not going to co-operate. Maybe when she gets used to me and the different surroundings she will be different.’ Asha settled again when I put back onto my hip. The therapist said ‘It might be a good idea to get her used to being not so dependant on you too.”

1988


Bree tried on her new shoes. She walked the length of the kitchen, sat down, ripped them off and refused to wear another pair of shoes for the next six months. Whenever I tried to put shoes on her feet she screamed as though I was scalding her. It was July and the middle of a very cold winter and the sight of her walking into pre-school, bare footed always drew a smart comment from one mother or another. I tried to shrug off my embarrassment with a laugh but knew they were judging me as an incompetent mother. Why don’t you just make her. Show her who’s boss. I wouldn’t let my child get away with it.
I tried everything I could think of to get her to wear shoes again. We managed to graduate to wearing socks and she spent a fortnight getting around like that. Then one afternoon I presented a pair of pink slippers “These are not shoes Bree. They are slippers. You can wear slippers’ and she did. She told everyone she saw about her slippers that were not shoes. My patience ran out about the same time as the slippers deteriorated and I was worried that her fixation would last forever. I was desperate and no body had any advice for me so I decided to take the firm approach. I taped her shoes on her feet with duct tape and plonked her on her bed telling her she could only come out of her room when she was ready to walk out wearing her shoes. She screamed and kicked for nearly three hours then, silence. Out she walked very high up on her tiptoes with a big smile on her tear streaked face. ‘I can wear shoes now’ she said. I think she as relieved as I was. I had given her a way out of her obsession that she couldn’t find for herself.


I made an appointment with a very prominent pediatrician who was frequently in the media. He seemed to know his stuff about toddlers and I was frantic to find out what I could do to help Bree. Dr.G observed her walking on her tiptoes the way she did now when she wore shoes. He watched her failed attempts at puzzles and exercises that other four year olds could do with ease. He heard the peculiar way she spoke and saw first hand one of her frequent tantrums. He said he admired the way I coped with all I had to do and he was glad he didn’t have the problems I did.
His written report mentioned ‘late bloomer’ ‘anxiety induced behaviour in direct relation to her stressed family background’ and ‘sympathetic to twin sisters needs’. Nothing written could get her the help she should have had access to. I was left worse off now, having such a well known doctor say she didn’t have much of a problem. It was now up to me to get some sort of help from who knew where. . I received a letter today inviting Bree and Asha to a pre-selection interview to enrol in a private grammar school . I’d forgotten that I’d placed their names on the waiting list just after they were born. I sat staring at that letter watching tears drip onto words that blurred in front of me. I was reminded of days when I had dreams for my girls. Dreams of them walking together through the school gates with blonde pigtails and overlarge school bags. Playing with little friends who would get confused by their likeness. Now I have no dreams. Only fears and despair. .
I enrolled Bree in the local school Neisha and Blair attended. The headmistress took note of my concerns and said that without a diagnosis no special support could be offered to her. After two terms and numerous incidents that put Bree at risk I knew this wasn’t the place for her. The final thing that made up my mind was seeing Bree walk out of the school gate by herself and head towards home when her teacher was meant to be supervising her until I collected her. In reply to my complaint her teacher told me Bree was a spoilt little girl with a mind of her own who should be made to realise who the boss was in our family. . .
The next Pediatrician we saw diagnosed her with ADD and prescribed Ritalan. She went completely off the planet after the first tablet and screamed for twelve hours straight. I often wonder what the neighbours thought about the noises coming from our house late at night. I found a school that had a support unit attached to it for special needs children. The Headmistress was a wonderfully warm and understanding woman who said she would do whatever she could for Bree. The kindergarten teacher was just as lovely. They saw Bree had problems and got to work giving her the support she needed. We were told she didn’t need to be in the support unit yet and to give her time to develop at her own pace for a couple of years before that decision was made.



Asha was enrolled in the School for Blind children. She was one of five in the class and seemed to fit in well. It was soon discovered that Asha responded better to her program when she was sitting in a paddling pool so she spent a great deal of time that summer in water.

Her teacher was concerned about Asha’s hand mouthing behavior and had the Occupational therapist make splints to go on her arms so she couldn’t bend her elbows and get her hands to her mouth. When she wore them she seemed much more responsive to her surroundings. They allowed her to focus on more than just her hands that seemed to have a life of their own.

Asha was no closer to being able to walk independently and she now only crawled short distances, usually to a comfortable corner where she could curl up and sleep. In fact most of her days were spent sleeping as the seizures she now had were much stronger and knocked her around much more. Some days she arrived at school asleep after a morning seizure and slept all day until she came home. Then she was up playing and laughing in the dark all night.
Some mornings I found her asleep on the kitchen floor after she’d crawled up the long hallway in the dark towards the only light left on in the house. She was as unpredictable as Bree but in different ways.
I’d see Glyn whenever I could but his visits home were becoming fewer. He got very distressed when taken away from the familiar surroundings of the center that now his home. My love for him had him constantly in my mind and I carried a heavy load of guilt about not being able to be a fulltime mother to him.


1989

The new school year would come with the usual buying school shoes, covering exercise books, enrolling in sport teams and for our family getting used to yet another taxi driver picking Asha up early each morning to take her to the Blind School.
Our assortment of taxi drivers was a diverse as the Homecare ladies. Most were lovely, helping me lift Asha and strap her into the carseat, joking about the way she could hold her legs to suck on her toes. She was very flexible in those days and found new ways to entertain herself as she lost the skills so slowly gained over her five years of therapy.
She seemed to be completely detached from our world at times then at others it seemed as thought a curtain had lifted and she would make eye contact and smile. Sometimes we’d hear her speak a word we thought she had forever lost. It was as though she needed to remind us she was still there and not to give up in her.
The year the twins turned five was the year Asha was prescribed her first wheelchair. This was another stage of grieving for me as I was once again confronted with the permanency of her disabilities. While she was using a stroller I didn’t need to face the fact that she may never walk. Strollers were temporary. Wheelchairs signified ‘forever’.

We chose a snappy little canary yellow chair and with it seemed to gain an audience wherever we went. No longer could I pretend she was a tired little girl who just needed a rest in a stroller. Now we were visible to everyone announcing ‘here we are this mother and her disabled child, stop and stare and talk about us between yourselves’. How I hated being so out there and public. It seemed my eyes were forever meeting those of someone looking our way who, embarrassed at being caught watching us would then pretend not to be looking our way. Very rarely did someone smile at me. Sometimes I would catch what looked like pity, other times disgust. It didn’t help that Asha’s behaviours now included raspberry blowing that got louder and juicier the more excited she became. With the splints on her arms to stop her from bendding her elbows and getting her hands to her mouth she looked as though she had two broken arms as well as not being able to walk. No wonder we drew attention. I was never sure when she would have one of her seizures that started out with a loud scream and turned heads quickly in our direction. She would then go rigid and start thrashing her arms and legs around, her face contorting with saliva frothing out through her pretty pink lips that moment earlier were curved into a beautiful smile. I’d try to find somewhere to steer her out of sight. If Bree was with us I’d have to grab her hand and pull her along also as she’d never follow on her own and more than often that was enough to set her off into one of her tantrums as well . She needed to be prepared in advance for any change of plans while we were out and couldn’t cope with sudden movements or bieng touched without prior warning. Needless to say I was very nervous taking my girls out in public. It was like walking around with a time bomb never knowing where or when it was about to go off.
I remember one day while we where settling down at McDonalds and I was feeling quite proud of myself for getting us altogether for a family outing, I looked out the window and saw a lady walking into the restaurant holding the hands of her twin daughters who looked about the same age as Asha and Bree. It seemed so effortless for that cool well groomed mother as she stopped to talk to an elderly couple who admired the twin prettiness of her little girls . My heart sank and tears came to my eyes. That should be me I thought. Why was she so lucky? Another day was saddened by my losses.
As a child I went to Sunday School at our local Anglican Church. My thoughts had been geared not to covet what others have. Not to be jealous. Be grateful to God for what you have been given. I was beginning to think God had overlooked me and my children. .
.
I became obsessed with finding a diagnosis that explained why my three babies were affected so differently. We had been given a lot of maybes but no definates.
All theories with nothing scientific to back it up.
With Glyn we had been told he was one in a million and probably, if he did have a recognized syndrome it would be one peculiar to boys as more males than females were born with such severe disabilities.
With Asha it was thought she may have had her oxygen compromised inutero by Bree cutting off her supply by leaning on the unmbilical cord in such cramped conditions. This was meant to have caused brain damage.
Because they were identical twins and not suffering from identical afflictions, Bree’s diagnosis was the most remarkable from the prominent peadiatrician who spoke of ESP and twins feeling and experiencing each others traumas.
These theories came from three highly educated professionals, so who was I to question them? It was only when I relayed what they had told me to other professionals and saw the look of bewilderment and sometimes slight amusement they gave me that I wondered about them myself.

I was referred to a geneticist at the hospital who said they needed to know whether the twins were indeed identical. He couldn’t see how it was possible for them to be so differently affected and Asha being so similar to Glyn.

We all need to have our blood tested to determine this.

Never sure of how Bree would react to anything new I was prepared for the worst. Thankfully she hadn’t experienced as many blood draws as Asha who seemed to take them as part of her life and not get too upset.
By the time we were called in Bree’s anxiety level had reached its peak and displayed itself with her usual constant questioning. ‘Why isn’t Dad going to work?’ ‘Why are we going to hospital?’ ‘Is Asha staying in hospital?’ ‘Who’s car are we going in?’ ‘Will I wear my seat belt?’ ‘Where are we going?’ and then when she ran out of new questions she would start all over again repeating what she had just asked. So along with her anxiety mine had risen as well. The sight of her own blood was enough to set off a long episode, sometimes weeks, of day and night obsessive checking and re checking the wound and telling me to look at it and confirm she was ok, assuring me it wasn’t big but little, not bleeding anymore but healing and new skin was growing. So, inflicting a wound that would more than likely cause this reaction had to be very important and something unavoidable.

As she lay on the exam table we were ready to pin her down if need be but much to our surprise she just lay there watching as the tornique was wrapped around her arm and the needle pushed into the vein. She was not at all distressed but seemed facinated by the sight of her blood being drawn into the little vials laid out on the tray beside her. When the last one was done and the nurse said ‘Good girl Bree. You are very brave.’ Then the nurse applied a bandaid to the tiny spot on her arm Bree began screaming. ‘NO NO get it off , get it off’ she looked at the bandaid with her eyes huge and filled with terror. Her reaction to the bandaid was startling and I scooped her and quickly pulled the offending bandaid off her arm. Her screaming stopped immediately to be replaced through sobs and tears with the inevitable flow of questions that she needed answered to relieve her of her fears. 'I don’t want a bandaid do I?’ ‘ I don’t have to have a bandaid on my arm?’ ‘Why did she put a bandaid on my arm?’ On and on she went right through the rest of our blood draws, right through the afternoon into the night . Then the first thing she said the next morning was ‘ I’m not getting a bandaid am I ? ‘ as she once again examined the now fading spot on the inside of her arm.

Years later we learnt that the reaction she had to the bandaid was because it changed her appearance and took away the picture she has in her mind of who she is. This little piece of plastic is enough to make Bree think she was not Bree anymore. And that is a very scary thing not knowing who you are.

The tests confirmed the girls were identical. However this didn’t make a diagnosis any closer. In fact it muddled things even more. All we could be told is that they couldn’t see how it was possible the three children were affected by a common genetic disorder. There was no denying Glyn and Asha had similiar symptoms but Bree and Asha were so different when they should have been identical.

Asha’s teacher mentioned a syndrome she’d read about that was only found in girls. She said the constant hand mouthing, hand rubbing and clapping Asha did was one of the hallmarks of this disability. She told me this disorder caused little girls to regress,lose all their skills and become weak and ill, eventually dying at a young age. I told her ‘no, that doesn’t sound like Asha at all to me’ and left it at that. . Over the coming years this disorder called Rett Syndrome was mentioned time and time again by doctors and therapists who knew other little girls who looked just like Asha. Then it was dismissed as a possibility once they heard about Glyn, explaining it was female specific and boys never had it.
Also the early onset of seizures in both Glyn and Asha was not usual for this syndrome. . Not having a diagnosis made it especially difficult when filling in forms for hospital admissions or disability services. In the space that said ‘Diagnosis’ I wondered what order I should write the long list of symptoms they had gathered over the years. Epilepsy, Cerebral Palsy, Autism, Global Developmental Delay, Cortical Visual Impairment, Respiratory and Gastrointestinal disorders, Scoliosis.......


1990


I was finding it almost impossible to keep up with the therapy program for Asha. We would settle into a daily routine where I would do her excercises between housework and Bree’s increasingly demanding and bizaar behaviour then the inevitable seizures would rear their ugly head again and Asha would be admitted to hospital for more tests, more medication changes and our routine would be no more.
Each time this happened Bree’s world was turned up side down and for a child who hated changes of any sort this was the worst possible thing that could happen to her.


No matter how much I did for Asha she was not improving. In fact she seemed to be getting more distant and her gross motor skills were stuck in the same spot as they had been for two years. She crawled only when she wanted, reached out and touched her toys rarely and some days seemed as though she was far away and not in our world at all now. Then out of the blue she’d gaze deep into my eyes for a very long moment the way young babies do. Souls connecting. I’d dare not move in case I broke the spell. Then she would give me her heartmelting smile and I knew she was still in there then and it gave me strength to keep going. .
I was worried about Bree. After two years of mainstream kindergarten she was placed in the special needs support classroom with 20 or so other children aged between six and twelve. The children had a variety of disabilities including Down syndrome, ADD, autism, dyslexia, Tourettes syndrome, Fragile x syndrome and other intellectual and developmental problems. All needed constant supervision and individual programs but the education department's standard of one teacher and one teachers aid did not give these children adequate support. I volunteered to be part of the reading program once as week as well as a helper on school excursions. This was my first introduction to other children with not as severe developmental problems as Glyn or Asha and made me realize that Bree had bigger problems than I thought. Because her problems seemed so much less than Glyns and Ashas we believed the diagnosis of ‘eccentric’ and a late bloomer must have been correct. Now that I had other children of similiar age and developmental level to compare her with who had known disorders I began to question this.
Her teacher wasn’t very concerned about her in the classroom because she always seemed happy and willing to be part of the activities. Compared to some of the children who ran riot or had major aggressive outbursts Bree was easy.

Even though this class was set up in a mainstream school with the idea that these children would be integrated with ‘normal’ children this rarely happened. In the playground they were shunned by their ‘normal’ peers or worse, teased and ridiculed. Blair came home very upset one day because his friends asked him why his little sister was now with the ‘spastics’. I approached the headmistress numerous times about my concerns an was told that Bree like the rest of the children in the school would have to learn how to deal with other children on her own if she was to get on in life. Even in the classroom Bree was an easy target for one boy who’d chase her and tear the buttons off her uniform or the ribbons out of her hair. I wanted her to have the opportunity to mix with other children in a positive setting and decided to send her to an afterschool program twice a week with another little boy in her class. His mother said he loved being part of this group and was accepted there by the other children and the women who ran the center were very diligent that he was treated properly. It was here with these ladies who were not trained special needs teachers that Bree was given the gift of a proper diagnosis. They told me about a boy they knew who was very much like Bree and was diagnosed as autistic.
I was told the school would set up and assessment with the autistic association. Not so. Bree’s teacher and the new, very opinionated headmistress said they did not think Bree was autistic at all and they did not like the idea of children been ‘labelled’. They said she was too social and “doesn’t she let you cuddle her? Autistic children won’t let you touch them.” “What good would a label do her?” they’d ask. “Once she gets one it sticks to her forever to carry around with her, closing doors in her face.”
“It will make her employment opportunities limited and doing things like getting a drivers liscence or job very difficult.” They said they didn’t see the problems I described were happening at home. She always seemed happy and willing to be part of the classroom activities. Bree was at her best when she was in a large group where she could work on the periphery taking her cues for the other children. She became lost when left to her own devices with no one to follow. At home without the structured routine of the classroom with the other children to copy she floundered and in turn reacted with tantrums, defiance and frustration. They were willing to have her do an IQ test with the school councellor so this was set up instead. Bree sat through the whole test with her head in her arms on the table screaming when we tried to make her do otherwise. I was told she was untestable and we would have to try at a later date when she matured. .
Now even more desperate to find some help I made and appointment with a dietician recommended to me by our GP. She was particularly interested in food allergies and behaviour disorders. We started Bree on an elimineishaion diet . She was not allowed wheat so her weetbix was replaced with rice bubbles. The only fruit she was allowed was pears which she usually refused to eat so I renamed the canned pears ‘cooked apple’ and she accepted them eagerly. She was also allowed soy milk, white meats and eggs. All the meals were pale in colour which was just how Bree liked them. I kept her on this for over a month with absolutely no improvement and when I tried to reintroduce other food she strongly refused. She hated change so anything new on her plate set her off into a panic. Meal times were a battle ground with Bree struggling and screaming when I tried to get her to open her mouth to at least taste something other than this very limited and unbalanced diet. Once she got into a pattern it was almost impossible to break it. I wished we had never tried the diet and now worried about her not getting the foods she needed. Also, she now associated her evening meal with a fight so even getting her to the table became impossible. I began to serve her meals on a little table in front of the television away from the rest of us so she didn’t feel threatened and would at least take in some nourishment without screaming the roof down.
We had so many battles with Bree these days over everyday things and I found it best to adapt our routine to make it as stress free as possible for the whole family. I know others thought I should be stronger and show her I was boss. They wouldn’t let their child get away with this. I felt a strong sense of guilt and shame that I was not doing my job as a mother properly. I had no one to turn to for advice. No one I know had ever had experience with a child like Bree who was so petite and pretty with her unpredictable , unexplainable behaviours. .
I wasn’t coping. I hated not being able to cope. Hated asking for help. Not because I felt I was a super woman, it was because when I had to ask for help it made me have to face how bad things were for us. Made our problems too real. When I could just go along managing on my own I could pretend everything was alright. Would get better. That this nightmare I had been tossed into was temporary. There would be an end to it. How could it go on forever, for the rest of my life? Surely people can’t live like this forever and survive.
Another fear I had in asking for help was having that help denied. Being told no, there are no funds available at this time, or no, you do not qualify or like the time I phoned the Social Worker at the Center and asked for some respite care for Asha to be told ‘Just because you have one child in here doesn’t mean you can get another in.”
Whenever my cry for help was denied it made me start doubting myself. I’d think maybe things aren’t so bad. May I should be coping better. Maybe what is happening to me is normal. This lifestyle is normal. Maybe there are people out there who need the help more than I do. Who are dealing with more than me. Was I being weak and selfish? Would I be taking the support they needed away from them? Maybe I should try harder and stop whinging. After all these social workers must have guidelines set out for them stating who gets what under what circumstances and if I didn’t fit into these guidelines it must mean I don’t have the problems I thought I did. Then I’d think if this was the case why did I feel this way?
I decided to go to a psychologist. Maybe I could be told how to organize my life to help myself cope better, how to think my way through these problems and not be so negative. Maybe I was doing it all wrong and if I was shown the right way of doing it, everything would fall into place and become easier. I could then be like everyone else.
I sat opposite the psychologist telling her about my children and their problems. The demands of their medical and therapy needs. The anxiety of waiting for the inevitable seizures. My feelings of not coping, being tired all the time, crying at the drop of a hat. I went on and on with my long list of woes. She stopped me occasionally asking ‘What do you feel when……….?’ Or ‘ How do you react to that?’ When my fifty minute session was nearing its end she said. ‘You have a very difficult life Leita and you are doing a wonderful job but you need to ask for more help. You need to set time aside for yourself on a regular basis. You need to learn to say no to people. Not try and do so much on your own.’ I walked out thinking she has absolutely no idea. I felt trapped. On one side I had someone telling me I had to ask for more help and when I did I found there was no help available. .

1991


I was told about a respite service run by the Anglican church where families volunteered to care for a child with disabilities on a regular basis, usually for one weekend a month or one night a week. Asha was matched up with a family who I desperately hoped could care for her to give me some regular time to spend with Neisha, Blair and Bree.
They seemed a lovely caring couple with two little girls aged nine and eleven. The father was very keen while the mother sat quietly as I explained about Asha’s seizures, midnight parties, the armsplints she had to wear incase she had a seizure when she had her hand in her mouth and bit into her fingers. Her raspberry blowing that was very embarrassing and made heads turn to stare at you in public. Her likes and dislikes and her daily timetable of nappy changes, medication, therapy and when and how much food and drink she needed . As I described her and her needs I was aware of the bizarre picture I was painting of Asha. Because all these differences had evolved gradually as Asha developed we saw them as just being part of her and we loved and accepted with her special uniqueness. It wasn’t until I had to analyse her needs and put them into words that I was reminded of how time consuming and stressful her ongoing care was and the enormous problems my little girl lived with.

We arranged for Asha to stay with this family for short periods which gradually eased them into saying they thought they could cope with her overnight. But the following morning when the phone rang I was dismayed to hear the father’s voice saying how sorry he was but could I possibly collect Asha early? It seemed the mother had decided she couldn’t cope after all. They were terribly sorry but had no idea what it would be like caring for a child with such severe problems. It dawned on me the whole idea of taking a disabled child into their home was the father’s who thought his family would get something out of caring for Asha. Then he just left the poor mother to cope on her own.
I also wondered why some people were allowed choices in life when others like me weren’t. .
After school while watching TV Bree would sit on the floor cross legged pushing her hands against her tummy and rock back and forth. Like Asha and Glyn she was always very constipated and often had tummy pain but she still kept on rocking after we had this under control.
Her teacher said she was doing it at school as well. It wasn’t the type of rocking autistic children do to zone out to escape stimulous they couldn’t cope with as she would do it even when she seemed happily engaged in her play activities. Around the same time she began coming out of her bed at night eyes large with fear, crying and saying the house was moving and she could hear noises in her ears which I realized was the sound of her own blood pumping through her head.
To get her to sleep I put a radio in her room loud enough to drown out these noises but she’d wake during the night turning the television and all the lights in the house on . She also flushed the toilet over and over .

At our wits end we were referred to yet another specialist who dealt with children with major behaviour problems. This doctor took down Bree’s recent and past history, read the reports from the other specialists we had seen and diagnosed her with Obsessive Compulsive Disorder. I felt at last we might have found someone who could help our little girl. He prescribed a drug called Anafronil saying he had seen dramatic results with children like her. So we filled the prescription and packed it with our ski gear to take on our planned holiday.

We settled Asha into the centre for respite care with Glyn for the week and head off to the Snowy Mountains. Bree surprised us the first two days she was on this medication. She seemed so in control of herself and even wanted to try skiing which she did well much to her delight. Then on the third night she woke screaming. We were staying in a Chalet with fifteen other families in the middle of nowhere. Even our car was miles away as we had come into this secluded village on a snow plough which only ran twice a day. I had no where to take Bree so she didn’t disturb the other guests so I climbed into bed with her and quietly sang her favourite songs for the rest of the night which eventually settled her down. When she finally drifted off into a twitchy sleep everyone was getting up to go to breakfast. I managed to pull my arm from under her head without waking her and sat watching her as her legs and arms intermittently twitched in a manor very much like I had seen as Glyn and Asha slept. I tried not to panic and didn’t want to startle Noel so I decided to just observe her with the rising fear that she might be having the seizures we were warned she would more than likely have all those years ago. When she woke she seemed ok for the rest of the day until she vomited after dinner that night. She also seemed a bit feverish so I presumed she had caught a bug that a few of the other children in the chalet had been suffering from.
On the fourth night after a day full of the worst "temper tantrums" I had ever seen her have and more vomiting we decide we had to cut the holiday short. Poor Neisha and Blair were devastated. They were keen and very good skiers and had been looking forward to this holiday for months. On the long trip home with Bree at long last sound asleep from exhaustion I had time to think and realized she was suffering from side effects from the Anafronil. The staff at the centre were going on strike in protest against funding cuts to disabled services in NSW. They asked for volunteers from the community to go in to help feed their clients at lunchtime when they planned to start the two hour stop work. I was well aware of the lack of money for centres and services for the disabled but with all I now had on my plate felt powerless to do anymore than be there when I could for Glyn. I saw the need for parents to lobby the government for better facilities and more staff but I was at such an emotional low as well as completely physically exhausted at that time and could only just find the energy to care for my own children. I could only hope the staff in Glyn’s ward had his best interest at heart and would care for him for me.
Because they also knew Asha from her respite visits and had witnessed Bree’s erratic behaviour they knew how stretched I was and now only ever called on us when Glyn’s health deteriorated to dangerous levels.

1992


I had a horrible thought this morning. ‘What if my babies die?’ It hit me that their condition might kill them. I feel sick. Desperately sad and just want to run and hide. Who can I ask? Who can I talk to about my fears? No one. There is no one because if I ask I might get the answer I don’t want to hear. I don’t want anyone to tell me yes. I don’t want to then have to start waiting for it to happen

Calls from the centre were becoming more frequent as Glyn got older and I found myself dreading the phone ringing in fear of hearing bad news about him.
I came home from collecting the children from school one day to see Mum’s and Noel's cars in the driveway. Noel had been called at work by the doctor at the center to say we needed to get to the hospital as soon as we could as Glyn was having trouble breathing and they didn’t know whether he would pull through.
Not knowing where I was Noel had phoned poor Mum who I later found out was not well herself, to come and stay with the children while we went to be with Glyn. After a long night in the emergency department Glyn once again surprised us with his strength by coming good.

Episodes like this were happening more and more often and it was found he was aspirating whenever he had a seizure. He also had a rapidly worsening scoliosis which bent him so far over to one side that his lungs were being compromised . He was too fragile for the surgery needed to correct this curve but it was recommended he have surgery for a fundoplication and gastrostomy tube .
We were warned the risk of him not making it through the surgery was very real.


1993

On the day of before the surgery the surgeon, along with half a dozen medical students trailing behind came over to Glyn’s bedside and in front of Glyn asked loudly had I signed a ‘do not resusitate’ form as he would not go ahead with the surgery unless he had in writing what we wanted if Glyn had difficulties. Unprepared for this question which was put in such an uncaring way in front of Glyn, and my nerves already shot, I was tipped over the fine line I had been struggling to hang onto all day.
I stormed out into the corridor demanding he and his apostles follow me. Surprising myself with a new found composure I demanded he apologise for being so insensitive toward Glyn who deserved the same respect any other child would receive. How dare he ask me, his mother to answer whether Glyn should live or die in front of him. How dare this man be so presumtious thinking Glyn didn’t understand, had no feelings. I received a phone call from the hospital CEO that evening to say he’d been informed about what had happened and he was sorry. He said he was aware of this doctors’s lack of bedside manner and had spoken to him about this incident. I thanked him for calling me and said I hoped this would save some other mother and child from going through the same experience. When I hung up the phone I started shaking. Then cried a long while this time for myself. Why me? Why do I have to go through things like this time and time again? Why can’t I have some peace and happiness for a change? . I sat beside Glyn’s hospital bed numb with fear that this might be our last time together. I stroked his soft freckle touched cheek and prayed he be kept safe.
How many prayers had I now made for this little boy that had never been answered? How many times had I kissed him goodbye?
I hadn’t signed the form because I was terrified by doing so it would somehow give the surgeon permission to make a decision not to help Glyn and to just let him die. Being around hospitals as much as I had I was not sure who to trust anymore. I well aware that some doctors and nursing staff thought children like Glyn should just be made as comfortable as possible with no heroics made to save them, letting them drift away. What good were they to society anyway? They just ate up precious hospital funds, never any hope of them getting better. The time had come to walk beside his bed down the long corridors to the operating rooms. A walk to the unknown.
The wardsman made his usual small talk that I responded to with a smile. People in the elevator asked me what Glyn was having done. I replied, acting as normal as possible aware that Glyn needed my strength and not my tears at this time. I had to be as brave as my little boy who had lived his life with such an amazing inner strength. It wasn’t until I’d kissed him maybe for the last time and watched as they wheeled him through the large double doors that I broke down and allowed myself to cry. I cried for Glyn who had never known anything but pain, I cried for my other children who were waiting at home to hear news about their sick little brother. I cried for myself and the unfairness of having to witness yet another heart wrenching episode that involved my dear, tiny, frail little boy. .
When I kissed him three hours later I did so through tears of relief.Glyn had shown us yet again that true strength comes from within. He had made it through the surgery without the complications expected. It was then that I realized Glyn would choose his own time to decide when he was ready to leave us.
1994
It was about 5pm and I was just about to start organizing dinner when Neisha came to tell me someone was at the front door. It was a lady who lived down the road . She had her arm around Blairs’s shoulders helping him to stand up.
She said she’d found him lying dazed in the middle of the road.
Blair was holding the back of his head and when I took his hand away I was horrified to see a huge lump the size of an orange. My mind raced then I seemed to switch over to an emergency mode. I grabbed a packet of frozen peas to hold on the lump as I drove him around to our local doctor.
Luckily Mum hadn’t left to go home yet so she stayed with the others. Blair was rushed through and Dr.P an elderly man who after checking Blair’s ears, turned to me to say ‘He needs to go to hospital immediately. He has blood behind his ear drum which means he has a bleed on his brain.’
I felt the blood rush to my head and nearly passed out myself. Please God, nothing more.
Dr. P called an ambulance .
My thoughts raced. What did this mean? Brain damage? No, please not another child of mine.
In the emergency department a registrar examined the huge bump on Blair’s head then looked into his ears. She said it looked to her that he had a middle ear infection and just needed antibiotics. She dismissed Dr. P’s diagnosis of blood behind his eardrum and said all he needed was a script for antibiotics and could go home. He would be fine. Then Blair vomited violently and fell backwards weakly onto the bed.
Blair was taken for a CT scan that showed he had a hairline fracture of his skull and a new diagnosis of severe concussion was made. He was admitted into the hospital under the care of a neurologist. Noel and I were furious but not surprised to think he might have been sent home by the young emergency room doctor. We were finding mistakes seemed to be a common occurance in hospitals.

My nerves were shattered and I needed a lot of convincing that Blair would be all right. I no longer felt the safety of ignorance I once had believing ‘it would never happen to me.’ I knew things do and can happen to anyone at anytime. And more likely we would be targeted by whatever forces directed disasters to its recipients.
In short, I thought if something bad was going to happen it would happen to us.