At about 7 months old we had his first appointment with Paediatrician on 26 Sep 2013 and that day was the worst day for us – having our world shattered with the reality that there was something very maybe severely wrong with our little precious baby. While the paediatrician was examining him, he said that his head circumference was small, he had poor head control, was not tracking visually and the list goes on. He said there might be something severely wrong with him but he doesn’t know. He referred Kush to Neurology at the Children’s Hospital at Westmead, Physio therapy in hospital, Genetics clinic, Ophthalmologist, and booked for a Brain MRI.
The referral papers mentioned Microcephaly and suspected Angelman Syndrome. The search results that came up with google scared the hell out of us.
I remember when we walked out of his clinic and back into the car, I said to Monika that everything will be ok, that Kush is going to be just fine, and that when he is 20 years old we are going to say how lucky we are to have a child like him. In fact he is going to be our best child.
Sometimes doctors are good professionally but are very poor people people. This paediatrician was the same. He spelled out things very matter of factly with no sensitivities or hope or anything. He really shared whatever he thought very poorly and we thought him to be a very rude man for saying it the way he did. To give him credit he said it as he saw it and did his best to refer us to all the right places.
We knew in our hearts that while he is delayed, he will definitely catch up one day. At the first appointment with Neurologist a couple of months later he pointed out his low muscle tone, head lag and dystonia / coreaformic movements. They knew something was not right but could not give us a diagnosis for it. This began our 18 months search for what was wrong with the little man Kush. We went through numerous blood tests and a couple of lumbar punctures and MRI’s and literally dozens of EEG’s. The cause was hard to nail. We knew that something is off with Kush but the tests kept coming normal.
At 11 months old on 19 Feb 2014 Kush had his first Grand mal seizure which lasted about 4 minutes. This was frightening. He wasn’t breathing for over 2 minutes and his lips turned blue. We thought he was dying and called the Ambulance. He was rushed to the ER. At hospital they did EEG and found epileptic discharges and some abnormal brain activity. Kush was admitted and was put on anti-seizure meds.