Child Of The Month

Sarah
by Lynn Bernaldo
Victoria, Australia

The following story was first published in the Spring 1998 issue of "The Mirror".

Like most parents, we have been looking for any information available to help us understand and assist our daughter Sarah, who was diagnosed with inv dup(15) at 8 months. How wonderful it felt to read in print things that have been thoughts in my head! I have been trying since Sarah’s diagnosis to find someone to listen to the possibility of autism or some autistic traits showing themselves in Sarah’s behavior. My hand was patted and I was told "It’s not possible" or "Stop trying to find things that aren’t there". Now perhaps it will be possible to assist Sarah in a more beneficial manner.

My pregnancy with Sarah was a good one, problem free. Being my first child, I felt there was plenty of movement and I had no fears or concerns. The doctor found nothing out of the ordinary. Sarah was due around the 9th of January. By the 24th, she still had not arrived so I was put into hospital and induced. She cried within the first few seconds of being born and was handed to me almost straight away. She did not have a good sucking motion, tending to suck her bottom lip, so breast-feeding was difficult. Her dirty nappies (diapers) were dark and very smelly for over a year; her whole body smell was not that of a baby but of a much older child. By 8 weeks, I put her onto the bottle, and she could suck a rubber teat much easier.

At 3 months Sarah developed a rather odd "stretch". We used to laugh when she did it, it looked so strange. These stretches started off once every week, slowly building to several each day. By 4 months, she was seeing a physiotherapist for head lag and general low muscle tone. She was obviously not reaching "normal" milestones. By 7 months, the "stretches" were coming in a series of 20 or more several times a day, each "stretch" followed by major distress. A trip to the doctor landed us in hospital for observation and tests. None of the medical staff had ever seen anything like it. All of Sarah’s tests came back normal except her chromosome count. An EEG was taken too and it showed an "abnormal reading": Sarah had inverted dup(15) syndrome and infantile spasms.

Our trip to the geneticist was less than bright. "Only a few documented cases of inv dup(15) have been reported", yet no information was every produced. We were basically told that Sarah would never regress but that her development would be extremely slow and hampered by epilepsy and medication. The solemn face and grief-filled tone of the doctor’s voice left us in little doubt that Sarah would be severely mentally retarded. We returned home with our "bundle of joy" that had on that day been turned into a problem with a dark and sour future. Medication was started for the infantile spasms - B6 and vigabatrin (Sabril). By Christmas of 1994, Sarah had reached the maximum dose allowed with her medication and yet she was deteriorating rapidly. I did not hold much hope of her reaching her first birthday in January. A trip to hospital brought a change in medication - B6, Epilim 2ml twice daily and a course of injections of A.C.T.H. over a month to 6 weeks, a remarkable improvement and a spark of hope. Sarah began to roll and responded to physiotherapy treatments.

By the time she reached 15-16 months, her seizures were all but under control and she could sit unaided for 10 seconds or so. In the following months, she learned to crawl, pull up on furniture, and walk unaided. After months of crying, screaming, ear infection after ear infection, antibiotic after antibiotic, it was found that Sarah had fluid in her ears. Another trip to the hospital to have grommets (tubes) in and adenoids out. She has had no illness since and her confidence in her
balance has grown so strong. I discovered by accident during the "bad months" that Sarah loves a CD by singer Tina Arena called "Don’t Ask". The CD has become a constant part of our lives, travelling with us whenever we go out and playing at home. This singer’s music is the only thing that can reach Sarah during any sort of distress, pain, or tantrum.

Over the past 32 months since Sarah’s arrival, I have on many occasions mentioned my concern that Sarah may be autistic. Doctors and therapists alike brushed my worries aside or told me that it was highly unlikely. One such therapist, against her better judgement I’m sure, gave me the name of another therapist who assisted me in accessing a copy of "The Mirror". Relief flooded through me and tears flooded out of me! I wasn’t imagining things, at last someone who has listened and acted upon concerns of others. Now perhaps a therapy programme can be developed and implemented to assist Sarah in ways the sit her - another park of hope.

After re-reading this it sounds quite depressing, but we have had such joyous moments with Sarah. Each achievement is celebrated, quietly on the outside with only a touch and "good girl" - anything more and she stops - but on the inside: fanfare and ticker-tape! The best moment of all is when she comes toward me with arms outstretched and gives me a cuddle and big lick kisses. Her smile lights up her whole face and shines with innocence and wonder. She has taught me many things: patience, tolerance, perseverance and acceptance, a broadening of the mind to
seek out and implement techniques used for unassociated disorders - some work, some do not. One of the most important things I have learned is that the only limitations Sarah has are those placed on her by others because she has a "disability". No one believed Sarah would progress to the stage she has - remove our limitations and she grows every day.

UPDATE (SPRING 2000)

Sarah is now 6 years old and my fears of her never reaching her first birthday have long subsided. She now attends a specialist school here in our home town and has grown as a person since starting classes there. She is still not verbal but has of late shown great frustration at not being able to let people know how she is feeling and what she wants. We use a very basic PECS system here at home for Drink, Food, Computer and Toilet. She will use this system if I take her to where they are and ask her what she wants. It is usually drink but the computer comes up, more often than not just as we are about to sit and eat. She loves using the computer and I have looked into this as a mode of communication but programs are hard to come by. We have a touch screen, which makes it easier for her to participate in specific programs.

She is still not fully toilet trained but we are having many successes. Her walking is still at times unsteady but she can move really quickly if she needs to. Her feet were always really hot so I now have her in leather boots and she seems much more comfortable. Her peripheral vision is excellent and she sees everything and hears everything. Instead of stuffing her mouth with any food that was offered she now looks at it and makes choices as to whether she will eat it or not. Her self-dressing skills are increasing daily. She now helps with putting on her shirts and can take them off over her head all by herself. She will lift each leg into her jeans and is now quite enthusiastic when it comes to pulling on her own socks. It all takes time but we have a lifetime to learn together.

She has been medication free since she turned 2 years old but I have currently started her on a course of Chinese herbs and she has made great progress. She still does the same things as before but her awareness has increased. Her willingness to participate in classroom activities has gone from practically none to eagerness. She has developed the ability to pick her written name out of a group of words. My walls have been plastered with the alphabet, numbers, colours, shapes and soon small words from the ‘at’ ‘en’ ‘us’ family etc. for many years. My youngest Jessica has also benefited from this exposure.

She still loves Tina Arena and her music can be heard from early in the morning ‘til last thing at night. I have developed a harness for her to hold a portable cassette player and that is all I need to pack when we go out. If she gets distressed or uneasy then on goes the harness and on goes Tina and Sarah just settles with a few claps to her favourite songs and a huge smile. She is still the best licky kisser and strangle hugger ever. I hope this never stops. Her basic health is good, she rarely get sick these days and then only a dose of Gastro-enteritis which can last a day or up to three weeks. Usually we just get the runny poops. We take each day as it comes and don’t worry to much about tomorrow as it will arrive all by itself with its own uniqueness.

Child Of The Month Archive

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Special People Profile	Cheyenne Rain Jackson
Special People Profile	Naomi
Special People Profile	Bobby
Special People Profile	Kevin
Special People Profile	Olivia
Special People Profile	Megan
Special People Profile	Sarah
Special People Profile	Cheyenne D
Special People Profile	Joshua
Special People Profile	Robert
Special People Profile	Frederique
Special People Profile	Julia
Special People Profile	Ryan
Mount Prospect Times Article	Jake
Epilepsy Foundation Newsletter	Will
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