Kiara is our first born child born in April 2012. We were so excited to be having a baby & even more so to find out we were having a little girl! We could not wait for her to be born, watch her grow & watch all the exciting milestones that would be to come in her life. Little did we know that everything we dreamed was about to change.
Kiara was born at 41 weeks by c-section after long labor which was not progressing. Even though she was born this way, it was still the happiest moment of our lives! Our little girl was born with a great set of lungs & passed her tests with flying colors! After 3 days we went home with our little girl who was perfect!
At around 7 Days Old, I began noticing little movements that seemed to me like silent hiccups. I thought nothing of them as being my first baby, I thought that was normal. I also thought it was normal that my baby was calm & relaxed most of the time in the first week of life. These episodes continued a few times a day & it wasn’t until I had a visit from my mum on day 9 that I mentioned it to her & the fact that Kiara had been asleep for a fair while. We tried to wake Kiara with little success. She was very lethargic which is when my mum suggested I better take her to the hospital to get her checked out. I panicked for the first time!
We took Kiara to emergency & being so tiny they didn’t take long to get her in for observation. It wasn’t long before she had another episode & so we called over the nurse. At that time, Kiara’s oxygen stats dropped & they rushed her around to resuscitation. Doctors could not be sure that Kiara was having seizures but initially treated her for suspected meningitis & transferred her to Westmead Children’s Hospital where they would do lots of tests. The episodes continued but only for about 1 minute at a time then Kiara would just sleep. At Westmead, Kiara had several blood tests, a lumbar puncture, MRI & EEG which all came back normal. Even so, they continued IV antibiotics for the suspected meningitis ‘just in case’. After 1 week it seemed the episodes had stopped so we were discharged & sent home. 2 days later, it happened again so went back to the emergency at our local hospital where they admitted Kiara once again & kept her in for another week hooked up to monitors under observation. No one knew what was really going on with Kiara even saying they thought Kiara had silent reflux & they weren’t seizures. She had no more episodes during that time so were discharged once again. For about 2.5-3 years there were no more episodes. We did start to notice at around 12 months that Kiara was not meeting milestones. She did not talk, didn’t crawl until 17 months & did not walk until 23.5 months. Still unsure why Kiara was diagnosed initially at 2 years old with GDD (Global Development Delay). Initially, we thought the word delay meant she might still catch up. At around 3 years old Kiara began having seizures which were clearly identifiable. At first, they only happened every 6 months or so (from which we saw) & usually during sleep. Only once did Kiara drop into a seizure after being awake. Initially, the doctor advised us against medicating as they weren’t regular. At about 4.5 years, the seizures started occurring more often & so started Kiara on anti-seizure medications. Initially, Kiara’s EEG’s were clear but once regular, doctors suggested an overnight EEG where they noticed a lot of spikes & waves in her brain activity and at 4 years Kiara was also diagnosed with autism. At 5.5 years (in 2017) doctors discussed genetic exome testing with us. We were told that not all patients could have this done as it was very expensive but considering the circumstances, Kiara was offered this & Kiara as well as my husband and I were tested. It took more than 9 months to get the results back & at that time I was already 6 months pregnant with my second child. It was not an easy decision to have that second child considering what we had been through & continued to deal with our special needs child. I wasn’t sure if I could handle having another ‘typical’ child (as well as Kiara) let alone the chance that it could happen again. We finally got the genetic test results back in July 2018 & it was found that Kiara had a mutation in her KCNQ2 gene but thankfully for our unborn child, it was DeNovo meaning my husband & I were not carriers & unfortunately it was just a random error in Kiara’s gene when she was conceived. Today, at nearly 7 years old, Kiara’s seizures are mostly controlled with her medication. She is a beautiful girl who is physically mostly ok but has a severe intellectual disability as well as severe autism. Kiara attends a special school which she seems to enjoy but has lots of anxiety, very limited understanding & limited communication. Kiara has around 50 words which she can currently say but mostly through imitation & we constantly have tantrums/meltdowns at home & in public due to her limited communication & understanding making it hard to do many things. Kiara doesn’t understand how to play with most toys, does not have the attention span to sit & watch TV & has limited self-help skills even though she has had years of early intervention.
While I am thankful that Kiara is a beautiful healthy child, I still struggle a lot of the time to come to terms with the fact that Kiara’s disability & behaviors seem to get worse as she gets older & the fact that she won’t ever get to experience what most do in life. I constantly ask myself, why us? Why our little girl? Why does it have to be so severe? Could I have done something differently to help her more? All those dreams that most parents have for their daughters, may never come true. I don’t know if I will ever come to terms with that.