The Australasian Tuberous Sclerosis Society

Emily is 4yrs and 10mths old.  She was diagnosed with TSC when she was about 4mths old, she has multiple tubers in and on her brain and a giant cell tumour in her frontal lobe.

She has severe global delay development (mental age between 18mths to 2 years), cortical vision impairment (she is really long sighted), Intractable (Incurable) Epilepsy, Infantile spasms, Non-Verbal and meets the criteria for Autism Spectrum Disorder (ASD-which really explains a lot of Emily's bizarre behaviour). She has early angiofibromas on her face and is covered in the ashleaf spots.

    She has full time support at Preschool with "able bodied" children. She is transitioning to School this year to start kindergarten in 2007.  She is joining a special needs class at an integrated public school on the far south coast with full support.  I follow up at home with a structured routine to keep it flowing for Emily.  She is a 25/7 kind of a girl.  We have difficultly accessing service providers and funding through the government agencies so I have been very hands on with Emily's Occupational Therapy and the like. 

We were given a very "not so good" prognosis when we found out about her TS diagnosis and at that stage she could not see or hear us and she was not reaching any milestones that gave us any hope at the start.  We just "prayed for a miracle" and went for broke.  Because of Early Intervention and never letting up on Emily and exploring her abilities and building on them we have had resounding success, even though to someone else she may seem severly disabled.  We are very proud of our girl who was never meant to see, speak or walk.

    Emily's epilepsy is a bit of an issue.  She has complex partial seizures and absences.  These really mess with development (chunk learning) as dose the autism.  She is on 4 different Anti-onvulsants and is constantly monitored for any issues her "convulsant" cocktail may cause.  When we see break through seizures it is a phone call to the neurologist at Westmead and we fiddle about with the doses.  On top of all this I am constantly looking for signs of hydrocephalous because she has tubers in both her ventricles.  Never a dull moment at our house.  Their may be epilepsy surgery down the track because she has one tubour in particular on her right opcipital lobe that is more than likely causing a high percentage of her seizures, we are involved in baseline study for this and must wait and see what happens.

    With Emily's Autisim, it was very hard to diagnose because it was masked by the Severe Global Delay Development.  She is an A-Typical autistic girl.  She is very self absorbed and is obsessive and her sensory needs are huge.  She is constantly on the move and her behavoiur reflects the structure in her life.  When we worked out that she was autistic and changed from Calm Kaos to Autism Stuctured Heaven, Emily became a different child.  She is now  "a work in progess" and we are able to use the autistic features, such as the echolalia to encourage speach and augmentative communicaton (photos) to communicate with her.  We still have times when we dont have the key to her world, but thats okay.  We make mistakes and learn from them, we have successes and we celebrate them.  

    Most importantly she teaches me every day something new about myself and brings out our family's strengths and our weaknesses. It is a huge learning curve having a special needs child in your family.  Emily is my "earth angel".