- Written by Gina Vozenilek
- Category: Jack's Friends
- Hits: 163
[dropcap]O[/dropcap]liver was born in February 2012 through an elective caesarean section. On day 2 of life, while he was breast feeding, Oliver broke attachment and started staring and all 4 limbs were twitching. The next day, he had 2 tonic clonic seizures lasting about 45 secs each time. He was then transferred into the hospital’s special care nursery. There he had numerous tests including a lumbar puncture, MRI, ultrasounds and many blood tests. All of these tests came back normal. A week later, he was transferred to a larger hospital for extensive and specialised testing, including a few EEG’s.
Over the next couple of months he had numerous hospital admissions due to increase seizure activities and the inability of his medications to keep up with them. After his scheduled 4 month vaccinations, he had his longest seizures to date. A 7min seizure at home, an 8 min seizure at hospital, then had a 45min status and transferred to the Intensive Care Unit. It was after that enormous seizure that his neurologist decided to do genetic testing. After a couple of days, he was fine and sent home.
Over the next 4-6 months, his hospital admissions due to seizure activity were getting less. However, he was not putting on any weight, his appetite decreased and it got to a stage where his output was getting less and less. His doctor decided to do some blood tests. His electrolytes were at a critical level and with consultation with a metabolic doctor, decided it was his current anti-epileptic drug was the root cause of this. We changed medications immediately.
In July, 2013, we discovered that Oliver was diagnosed with the KCNQ2 gene mutation, the cause of his epilepsy. Through the internet, we have discovered many families that are affected by this and have been a tower of strength for all of us.
At 22 months of age, he had been seizure free for 10 months and is physically growing well. Developmentally he is quite behind children of a similar age. He started walking at 19 months of age. Still quite non-verbal, and it is like he is in his own little world. He has had a recent diagnosis of Autism, fortunately, he is on the lower end of the spectrum. He receives regular physical therapies through Occupational Therapists, Physiotherapists and Speech Pathologists.Because there isn’t much known about KCNQ2, the doctors are learning as we are learning. We continue to support his needs and whatever he requires. We take it day by day and try to live life as best we can.