Mindy, who has Cri du Chat syndrome, was born in Australia in 1971. She wasn’t typical for Cri du Chat syndrome, weighing over 4 kilos (9lb 4ozs). She was also very long and apart from her first hours, robust and healthy. She had and still has a small head, although it isn’t noticeable. The delivery was difficult, resulting in an emergency caesarian section and some distress to Mindy so we were still in hospital when she was 8 days old and I was taken to the head nurse’s office.
I was led into a small, narrow office by the head nursing sister of the ward and confronted with the resident paediatrician (who I had never met) and the medical social worker (who I had seen on two or three occasions because I was 17 years old and unmarried). Despite constant reassurance to the contrary and not having even been in the same room with her let alone allowed to hold her in my arms, I was already convinced that there was something wrong with my child.
Even through the window of the prem nursery, I could hear the difference in her cry and see the distinctive facial features. My cousin visited and commented that she sounded like a cat. There were the things said by nurses handing over shifts, thinking they were out of my earshot or that I was asleep. Nonetheless, I wasn’t prepared for such a life-shattering pronouncement, and, in spite of the obvious empathy and caring attitude of the staff, the situation was threatening, I was terrified and I felt I needed a friend or family member present.
When delivery of distressing news of such a serious nature is necessary, if possible, the professionals should not outnumber the patient or family members. At the very least, it is intimidating, sometimes frightening and usually adds considerably to the distress of the person.
I was 18 years old and single. I was already aware that my life was going to be very difficult but the paediatrician’s prognosis for my baby shattered what little hope I had left for a relatively normal life. Essentially he said “I’m sorry, your baby has a chromosome abnormality which means she will be mentally retarded. She won’t smile or sit up, won’t walk, talk or even recognise you or her family. She will be impossible for you to care for, screaming all the time, difficult to feed and she will probably die before she is one year old”…… “You should put her into an institution and get on with your life. She will be well looked after”…………
I know I was in shock, time slowed and I began to feel empty of all emotion…. disconnected from reality. It felt as though my world had shattered, crashing down around me …….. on top of me. Later I felt alone and distant from the world as though I were the only person to have ever been through this experience. Days and weeks later it just hurt and reminded me more of a nightmare I hoped I might wake up from. It hurt for a long time but the nightmare gradually receded into the background, never quite disappearing, but fading with time. At the time I thought I was going mad but I now know that this type of experience results in grieving and prolonged feelings of sorrow. When you lose something precious to you, something critical in your mental picture of yourself is also lost.
As with all losses, time passes and healing progresses. We put the pieces back together in another way, readjusting our picture of ourselves, our world, our place in that world and our expectations for the future. I was determined to give her as loving and as normal a life as possible and that determination carried me through the nightmare leading me slowly into the process of trying to achieve the best outcomes for her. Once I started to feel there was something I could do to help her, I found the despair and helplessness of the situation slowly turning into hope.
They said she wouldn’t walk. Only 3 years old and Grandpa is already having trouble catching her!
The chromosome abnormality is called Cri du Chat (cat’s cry) syndrome because the babies have a thin, high-pitched cry which sounds remarkably like a kitten. Although I had never heard of it and no one could tell me anything much about it, what they did tell me was appalling. It was also wildly inaccurate. Parents should be told the range of possibilities for their child without making unfounded predictions. They should not be given false hope… or false despair. They should be told the truth in an honest caring manner with respect for them and their child. Giving parents the worst possible scenario, in negative terms and intimidating surroundings, leaving them with little hope, is not the way to prepare them to deal with the future and do the best for their child. To step into such an uncertain future we need accurate information and some idea which direction we should take so that we can begin to rebuild our lives and help our child to achieve as much of his or her potential as possible. We need hope to make our way through the blackness of the initial loss and despair. I was so lucky that I had such incredible love and support from my family. I cannot thank them enough. At a time when it was still considered shameful to be an unwed mother and was still not entirely acceptable to keep a child with a severe disability at home, they gave us all the support and love they could.
Mindy was 5 before I had a brief meeting with another parent who had a child like mine, a toddler, with the syndrome. She was 14 when I saw another parent and baby with Cri du Chat syndrome.
It wasn’t until Mindy was 19 and Wendy and I started the Cri Du Chat Support Group of Australia, that I finally met that first child again along with four others. Ever since those first years, I had wanted to help other parents, to ensure that they weren’t as isolated and uninformed as I had been. I didn’t dream how much it would help me. Nineteen years of isolation and loneliness lifted, leaving me elated. I had belonged to two other family support groups and they were an invaluable part of our early years but this was quite different. This was so much more.
The 6 original families are friends now and meet several times a year. Our little group has grown from 6 to over 80 families around Australia, in New Zealand, South Africa, Europe and South America. The internet has allowed us to share our information, experiences, successes and problems with so many other families, people with cri du chat syndrome and their friends and carers around the world. People who have children with cri du chat syndrome no longer have to feel as though they are the only family in the world facing this alone.
Mindy did cry a lot, was difficult to feed and wasn’t a good sleeper but she rolled over at 5 months, sat alone at 10 months, crawled at 12 months, walked at 2 years and talk!!! ….she never stops. Her speech isn’t clear and took a long time to develop but with the occasional help of signs and gestures (she’s a great actress), her 3-6 word sentences are sufficient for her to convey her needs, wants, ideas and frequent jokes and comments on her world. At 29 her speech is still improving.
Mindy had very little speech therapy. It was denied to us because of a scarcity of resources and because she wasn’t expected to talk anyway. She only had limited physiotherapy and very little occupational therapy but we were lucky enough to get into an experimental early intervention program when she was almost 4 yrs old. At that time this was still a relatively new concept in Australia and there were only a few programs in Melbourne. I did what I could before that, taking her to a play group for special needs children, to gym and swimming, even teaching her to ice-skate when she was 5 yrs old. We went to Special Olympics but she wasn’t really interested. She can swim with a floatation device of some sort and she loves the water.
As a child she was easily startled and frightened of many things, especially some sounds. Although obsessive, easily upset and over stimulated, she was the happiest little child, full of mischief and an overabundance of hugs and kisses. Always emptying out the cupboards and drawers, she was and still is a master at making a mess but she has learned to clean up after herself.. most of the time! Mindy has given such joy to her family and friends along with the headaches and although she is sometimes moody, obsessive and at times hard to live with, she is my greatest friend and dearest companion and has taught me a lot about loving, giving and patience.
Mindy doesn’t read or write but she can recognize some words and loves to draw. Schooling was always at a special school since the choice to attend a regular school wasn’t available when she was younger. The positive behaviour models in a regular setting would have been much better for her and it is good that many children with disabilities now have the opportunity for full inclusion. They are part of our community and should be included in all aspects of it.
Her biggest problems have been obsessions, skin picking and tempers which were often the result of her inability to communicate adequately. She used hair pulling, pinching and biting to communicate when young but soon learned more effective ways to make herself understood. She made up her own signs and gestures but a formal sign and symbol system for communication would have done much to improve her life. Again these were not available to us so long ago. Children with cri du chat syndrome usually have a reasonably good understanding of language and can get very frustrated with their inability to communicate effectively often leading to the development of “challenging behaviours”. Providing them with other means of communication makes their lives easier and gives them a good basis for language development. As their speech improves they gradually stop using the additional means of communication. Mindy eventually learned some Makaton signs and was a real wiz with Compic symbols but rarely uses them now. She communicates in 3-6 word sentences and so doesn’t need to.
Mindy’s health has not been perfect with many upper respiratory infections, bronchitis, constant runny nose, accidental falls and the occasional bout of pneumonia but she escaped most other childhood diseases and the frequent ear infections so common to cri du chat syndrome. Constipation is an ongoing problem as it is with the majority of those with this syndrome. It has been very successfully managed with diet for most of her life but now requires the use of laxatives. Her eyesight is mildly impaired requiring her to wear glasses although she won’t wear them all the time and she has a very slight hearing impairment that hasn’t affected her noticeably.
Mindy (28) with her friend’s puppy, Biggles. She loves animals and is very gentle and compassionate.
Mindy is now a beautiful, loving, grown up young woman, living in a group home called Helen Schutt House in a bayside suburb of Melbourne, Australia. She has lived away from home since she was 19 years old. She is currently attending an adult day centre where she continues her training in living skills and and enjoys many social activities. Her life is mostly a happy one and she enjoys a valued and respected position within her home, community and family.
Although she has a busy life away from home just like any other adult, we both look forward each week to Saturday when we spend the day together and every other year when we go on holidays together for a week. Mindy always comes home for a few days for her favourite celebrations – Christmas and Easter – she gets overexcited and it is exhausting but the enthusiasm with which she celebrates it makes the whole exercise worthwhile.
When she was born and given such a dismal prognosis for the future, no one ever expected her to live this long or accomplish so much. We now know that cri du chat syndrome is extremely variable and delays in a child’s development can range from slight to very severe. No one can yet predict what effect the loss of material from the short arm of chromosome five will have on any particular child. We also know that children with cri du chat syndrome do not generally die in infancy as was thought when she was born, and, although we cannot predict how long she will be with us, I expect and hope it will be a long time. I cherish every day we have together.
Update March 2000
Mindy’s hair, in common with that of many adults with cri du chat syndrome, is going grey quite early. Her friends at her residential home encouraged her to have it coloured. This is a great achievement for Mindy, who wouldn’t even go into a hair salon until she was 12 years old. Her hairdresser of 12 years, Robyn, was almost in tears because she had never thought Mindy would cope with the colouring treatment. Mindy is very proud of the result.
Update June 2001
Mindy continues to progress well. Late in 2000 we moved her to a new adult day centre. The change in her has been astounding. Change tends to stimulate development because it is challenging and in this case very rewarding. Mindy loves her new placement, the people are higher functioning than those at her last day centre and so she is challenged daily to improve her communication skills and behaviour. More is expected of her and she is coping well with this. At her last placement she was bored and had excuses every day not to go, often getting upset or angry. Her new programs are more interesting and she looks forward to going each day and comes home talking with enthusiasm about what she has done during the day.
Each weekend when I spend the day with her, I notice new skills, improved speech and a more mature attitude. At almost thirty years of age I am thrilled to say she still has more to learn and more to achieve.
Mindy’s 30th Birthday
In November 2001 Mindy reached 30 years of age.
We gave her a large party which was shared with one of her housemates who also turned 30 that same week. She is shown with her Grandfather and Great-uncle.
A holiday at the Gold Coast
Mindy is now almost 32 yrs old. Her favourite holiday spot is the Gold Coast of Queensland. We try to go there every two or three years and on each trip I notice that she displays a greater maturity and awareness. She is more independent and more skilled at negotiating new situations. She is quite the seasoned air traveler now.
Update September 2005
Mindy’s latest accomplishment. Her local Riding for the Disabled group had a demonstration ride. She has only been going for 5 months and all who know her were impressed with her successful completion of the 40 minute long riding display. She was excited and confident and was so proud of herself, as were we all. It has enhanced her self-esteem immeasurably.
Update December 2005
Mindy really enjoys Christmas and she loves the water. We have always had some type of small above ground pool for the residents to use to cool off in during our long and sometimes hot summers here in Melbourne, Australia. Finally, the management decided it was time to get a permanent pool installed since all of the residents derived so much pleasure from their pools. A new in-ground fibreglass pool was to be installed in time for summer 2004/05 but due to problems with the builders, it wasn’t completed until very late in the summer when the season for swimming was almost over. So, this summer is the first time she has had a chance to really enjoy the water as much as possible.
The day of the annual Christmas party was hot and dry and as soon as Santa had been and given gifts to all the residents and their young friends and relatives, it was time to jump into the pool. Since it is a fairly small pool, first the young children cooled off with their parents (the brothers and sisters of the residents) and then the residents hopped in for their long-awaited turn.
Mindy can’t swim alone but can float with assistance and move around by kicking. Mindy had weekly swimming lessons from a young age but without a pool at home she didn’t get enough practice to learn to swim.
Update December 2006
Mindy is now 35 years old and she is still improving and maturing. Her speech continues to develop as do her skills and her behaviour. She is very happy in her residential house and at her day placement where she seems to be very settled and progressing well. This year her group at Riding for the Disabled received an award from the UK RDA for their demonstration ride last year and she was so proud of herself.
Mindy’s confidence in the water is growing now that there is a pool at her house and she has learned to put her head under the water and dive to the bottom and although it is a very shallow pool this is a great accomplishment for her.
We went to Queensland again for a trip to the theme parks and a visit with a few of the Queensland families. She is a very accomplished traveler now and is a great help in the apartment, making beds and helping to get breakfast and do the washing. I couldn’t be more happy with her progress and maturity. She is a very loving and special daughter.
Mindy’s Art Exhibition Experience, 2010
Mindy loves to paint and in October 2010 she achieved one of her goals. She wanted to have her paintings in an art exhibition. This one was called Six Degrees and was held by her day centre. The art was displayed was created by adults attending her centre along with that of their families, carers and staff at the centre.
Mindy was ecstatic. She entered three paintings, which were collages done on fabric with paint and paper. Mindy also persuaded her uncle to enter one of his paintings. We didn’t list them for sale as all of her paintings are precious to us but perhaps one day we will. She is keen to have her work hung in another show sometime.