Kirstie was born in Bathurst on 3-3-1987. Bathurst is in the Central Tablelands of NSW famous for the Mount Panorama Car Races.

She always seemed to be happy, smiling a lot, as a baby, although she had some trouble with feeding. We started to get worried about her not achieving early milestones, when she was 9 months old. Family members reassured us that one of her aunt's hadn't sat up until she was 12 months old, so it wasn't unusual. At 13 months Kirstie still wasn't rolling over or sitting up so she started seeing a paediatrician.

When she was 17 months old she started losing weight and was still very small for her age. She was admitted to Prince of Wales Children's Hospital in Sydney, where she was diagnosed with possible Angelman Syndrome, possible Coeliac's Disease and with Giardia Parasite. At the time we were told she was one of only 3 cases in Australia with Angelman Syndrome.

She had an abnormal EEG and was put on Phenobarbitone for this. She was put on a gluten free diet and a special high protein diet to help her regain her weight. She started to grow and it wasn't long before her height was average for a girl her age. Her sleep pattern was very irregular, after regaining her health, so we used to sleep in shifts to try and minimise the disruption to the other children.

At the time we were given 3 sheets of paper, which were copies of pages from medical journals about Angelman Syndrome. No one was able to help us with further information or who the other's were in Australia or where they were. We decided to take one day at a time with Kirstie and see where it led us.

Kirstie was hospitalised just three days short of her 2nd birthday with viral meningitis. She was very lucky to survive this as her temperature reached 43 degrees C, twice during the early part of the fever.

Kirstie has had many seizures from 2½ years of age. The medication was adjusted, until she started having fits that were very hard to get her out of between the ages of 3 and 4 years. Her medication was changed to Tegretol, which was a disaster and very distressful for everyone who witnessed them. She started having drop fits and after a fortnight, she was taken off Tegretol and started on Epilim. Since being put on Epilim her fits have almost disappeared. She has had three Grand Mal fits since she turned 6 years and did not have any more fits until March 2000 (she had tonsillitis).

Kirstie was taken off the gluten free diet after 2 years and celebrated by eating a full packet of biscuits. She was given the all clear regarding Coeliac's Disease.

During one of Kirstie's visits to Bathurst Base Hospital to have blood tests to monitor the Epilim levels, we were approached by one of the pathology staff. She had a brother in Ballina who had a daughter who had a lot of the characteristics like Kirstie. We met our first other family with a child with Angelman Syndrome, Kirstie was 4 years old then.

Within a year we met quite a few other families as a result of the first conference in Sydney where the NSW Angelman Syndrome was formed and then later in the same year the Australian Angelman Syndrome was formed at the first National Conference in Sydney.

Shortly after the National Conference, Kirstie's diagnosis of Angelman Syndrome was confirmed by a new test, called the FISH test. She has a deletion of the maternal copy in Chromosome #15.

Kirstie reached a major milestone in 1994 when she started walking. Again biscuits were to play a major part in her life as she walked from her mother to a family friend, so that she could get one as a reward, she celebrated by eating the rest of the packet. She was awarded the Most Outstanding Achievement Award at school for the year to celebrate this.

In 1995 Kirstie got Osteomyelitis for the first time, one of the traits of Angelman Syndrome is a high tolerance of pain. Kirstie had been refusing to stand up or walk and wanted to be picked up all the time. X Rays revealed nothing and we were told that she may have arthritis. Bone scans were ordered and the results came back that she had fractured a bone in her foot and contracted Osteomyelitis. Kirstie has broken bones in her feet on two occasions since then and each time it still hasn't been detected early enough to prevent her from getting Osteomyelitis.

After being advised that Kirstie may have arthritis a work transfer was arranged and a move to the much warmer climate of Dubbo. Kirstie has lived in a small rural community at Eumungerie 40km north of Dubbo since late in 1995. The climate change has agreed with her, as she has been a lot healthier since the move.

Kirstie went through a reduction of her medication, until she was off all regular medication by early June 2000, when she stopped taking Epilim (anti-epileptic). An EEG in November 2000 showed that Kirstie was still having abnormal electrical activity. Epilim 100mg has been resumed twice daily due to this.

In November 2000 Kirstie was diagnosed as being asthmatic and has been put on Ventolin to help control this.

On 29th January 2001 Kirstie had an operation to turn the submandibular glands back to her throat, this will help eliminate the excessive dribbling that she was experiencing due to not having the muscle action necessary for pushing her saliva back from the front of her mouth so that she could swallow it. Kirstie experienced side effects of the anaesthetic and had  seizures that were treated with Dilantin (phenytoin). This was replaced by her Epilim being increased to 200mg twice daily.

She is growing up into a mature young lady, showing fewer signs of hyperactivity and her attention span seems to be longer. It isn't known if this is part of her natural aging or as a result of not being on medication.

Kirstie has always been a happy child, full of life and finding much pleasure in the simple things. Life has thrown many challenges her way and she has overcome them all.

In October 2001 Kirstie moved to Broken Hill in the far west of New South Wales.

Some of the changes that are very apparent are that Kirstie does not need to be told where the toilet is - she went straight to it unaided after not being here for 11 months! - how's that for long term memory. She knows how to flush the toilet with verbal reminders, to wash her hands after going to toilet.

Kirstie still needs help with feeding anything that needs cutlery. She can use a fork, but needs the food to be "loaded" onto it. She is a lot more helpful with getting dressed and undressed. She still loves water, but waits until being asked to hop in, rather than diving in clothes and all.

Kirstie is very much a teenager as she admires things that "look good", swivelling her feet whilst admiring her new slippers. Wanting her new jumper on straight away after lots of squeals of delight.

She still very much loves horse riding, however before her operation, she was now prone to slipping to the right after a short while if the horse was going counter clockwise. The easy way out of that was demonstrated when we changed the direction - no more slipping. The reason for this was that there had been a dramatic worsening of Kirstie's scoliosis over a period of 11 months - she went from slight (barely noticeable) to significant scoliosis.

In December 2002 Kirstie had an operation to insert rods into her back to correct her scoliosis. The operation was a success with a slightly noticeable reverse scoliosis. The most noticeable change was that she grew 100mm (4") in height immediately as a result of her back being straightened.

In November 2002 Kirstie had moved from Broken Hill to Sydney, living in the North Western suburbs near Windsor. She now shares residence between her parents who both live reasonably close to her school in Windsor.

Kirstie has a more stable life and gets to see all of her family as well as having made a lot of new friends both at school and outside of school. Her friendly nature is infectious and her smile has won her a lot of friends.

Epileptic seizures are still a part of Kirtie's life, but this is mostly controlled by her medication. Kirstie is now on an increased dose of Epilim - 300mg morning and night and this is working well for her.