The Australasian Tuberous Sclerosis Society

It is always easier to think about the negative aspects of life rather than the positives: the things we don’t have, rather than all the things we do have, the characteristics we lack rather than the ones we actually possess. The following story is one of great courage and determination, of will to achieve, of the ability to enjoy life even though the casual observer may judge that there isn’t much to enjoy.

Twenty one years ago a beautiful baby girl called Elizabeth was born. She was a baby sister for Nick (2) and Clare (18mths.) and a very much loved and wanted third child for Sue and Ross.

Elizabeth was a very placid, floppy and quiet baby who had her first seizure the day she was born. At the time the nurses just thought she needed to have her airways cleared again. At 5 weeks the eye specialist determined that she was blind, at 10 weeks she was in hospital with infantile spasms that her parents finally recognized as being very abnormal. Her brain scans showed lots of small calcifications and besides seizures and low muscle tone no other problems were detected. After trying unsuccessfully to control seizures, physiotherapy was commenced; an occupational therapist from the Royal Blind Society started home visits and so began the many challenges that Elizabeth was going to face throughout the next 21 years.

When her adult type polycystic kidneys were diagnosed at 7months her doctors completed the puzzle and diagnosed Tuberous Sclerosis. Elizabeth did not receive a good prognosis.

She continued to work hard at physiotherapy, eventually learning to hold her head up, to sit, to crawl, to smile. No matter how hard she worked the gap between what she could do and what was “normal” became greater. The anticonvulsant drugs eventually gave her some respite from the daily seizures and her eyes started focusing and learning how to work. Throughout all these challenges she remained a calm and quiet toddler who suffered from severe eczema, a couple of bouts of pneumonia, frequent ear infections and tonsillitis and numerous hospitalizations. Sleep did not come easily and eventually chloral hydrate was the drug that saved the sanity of her family.

While many professionals gave therapy, advice and support to Elizabeth it was her innate ability to persevere and “fight on” that encouraged all who worked with her. It was Elizabeth’s crooked smile, her brilliant red hair, her willingness to be held by others that people responded to.

Elizabeth has always struggled with communication and her behaviour was her only means to express her needs. Until she was about 8 years old she displayed self injurious behaviour and many times she would pull all her beautiful hair out until she was nearly bald.

With the help of her wonderful teachers at the Alice Betteridge School, North Rocks, and predictable routines at home she eventually developed meaningful gestural communication. This ability to express her wants greatly improved her behaviour. In the meantime she also had to adjust to having two new younger brothers.

Lizzie at her graduation

Not long after learning to walk independently (at 8years old) she broke her leg! This was met with stoicism and patience. After the plaster was removed the hard work to learn to walk again commenced. Elizabeth continued to work at developing independent living skills but she needed assistance for nearly every aspect of her life.

When she was about 12 years old her polycystic kidneys started causing high blood pressure so she had more medication added to her anticonvulsant cocktail. She shows a healthy disregard for doctors and dentists as a result of her frequent medical interventions. It is during these times when her strength, both physical and mental is at its most obvious! It was about this time that Elizabeth’s sleep patterns became somewhat normal and she was able to stay in bed for most of the night!

During her adolescent years Elizabeth became continent, started making sense of pictorial communication and continued to enjoy a very active social life. She participated in camps, swimming lessons, weekly horse riding lessons, and a range of recreational activities from sailing on Sydney Harbour to sidecar riding on Harley Davison motor bikes. Elizabeth knew how to enjoy life and willingly attempted new experiences.

At school she started work experience, packing shelves at Coles. She needed one to one support but really loved the opportunity to do a real job and meet the customers who recognized her and stopped to say hello.

It was during her final years at school that Elizabeth’s love of music and her dancing ability became a powerful means of communication and self expression. She literally comes alive when the music starts. Her 18th birthday was celebrated in style with a DJ, many friends and lots of dancing!

Since leaving school she attends a Rudolph Steiner day program for young adults where the philosophy of learning and self expression through creative sensory activities has further developed her confidence and social skills. Elizabeth participates in a wide range of fulfilling activities including delivering Meals on Wheels, working out at the Gym, cooking, painting and shopping for the grocery requirements of the program. To live this full and busy working week she needs a great deal of support, but she is not denied opportunities on the basis of her disabilities.

As a young 21 year old Elizabeth continues to live at home with her parents and younger brothers. She leads a busy and meaningful social life, enjoying weekly swimming lessons, a Wednesday social night, a Friday night Disco once a month and a variety of weekend activities.

Elizabeth continues to have uncontrolled epilepsy, has not developed speech and has a severe intellectual impairment. However she also has incredible courage, strength and determination to taste life and all the wonders in store for her. She enjoys her music, other people and has been blessed with a remarkable sense of humour.

HAPPY 21st BIRTHDAY ELIZABETH!