Normal birth, Hep b vaccination with no problems. No reaction to vaccinations at 2, 4 & 6 months. Tara saying Mama and sitting up at 6 months. Crawling and riding 3 wheel scooter at 8 months and saying words like dogs name and kids names at day care. Appears quite advanced.
No reaction to vaccinations at 1 yr. Is not walking. Eats with spoon.
Speech at 1yr 3m is very repetitive. Repeats a childs name from day care for 2 wks.
Had fall from dining room chair onto tiled floor and received green stick fracture to wrist. In plaster for 2-3 wks.
Walks only when holding on to things and is unbalanced at 1yr 6m. Has stopped riding scooter for quite a while and has stopped climbing onto things.
Starts to walk unaided at 1yr 6m. Only spoken word is Mama.
2 yrs, very moody and starts to squeal and scream. Doesn’t like to play with toys but likes outside play with water and sand. Stopped eating with spoon and prefers to use hands. Has seen pediatrician who suggests global development delay with soft autistic features. Referred to Child Development Unit. Not achieving anything as Tara spends sessions squealing and uninterested.
Referred to neurological doctors and lumbar puncture reveals low levels of glucose. Diagnosis is “Glucose 1 Transporter Deficiency without Epilepsy”.
hearing, eye sight, MRI, EEG all come up normal.
Tara is started on the “ketogenic diet”. This is to enable her to produce ketones for her brain development, seeing as she is not getting the glucose to the brain.
On the diet, Tara is extremely lethargic. We have to continuously change the fat ratio in her food, as her ketone levels are too high. We were advised to expect a change in Tara within 4 weeks of starting the diet, eg. Her wide gate when walking would change.
No signs of getting better, and ended up getting worse. Found it very hard to get her to do anything, she seemed to regress on the diet.
Paediatrician spoke to metabolic doctor who told him to take Tara off the diet. She had been on the diet for a couple of months.
The week coming down off the diet, Tara was extremely good, almost like someone had given her a boost. She was walking up and down steps unaided, laughing, picking up toys off the floor. After that, she went back to her usual self.
At 3 yrs sleep deprived EEG at Cairns Base Hospital showed Tara was having seizures. These are non clinical seizures where she just stares. She is started on Tegretol to stop the seizure episodes.
3yrs 1 m Paediatrician suggests that Tara now has severe autistic tendencies, and more tests are being arranged
What Tara can do without aid:
Drink from her water bottle, but a bit awkward.
What Tara can’t do:
Eat with a spoon.
Drink from a cup.
Is not toilet trained.
Is not confident in her balance, especially walking up and down steps.
Cannot ride her scooter or bike. Is now scared of these.
Does not communicate, whether it be by pointing, or showing pictures. We know what she wants from the time of the day.