Ziya means light and glow… and this is exactly what she brought to our lives when she was born. As I held her for the first time, I had imagined her whole life in my heart and wished nothing less but a world of fulfilled dreams for her.
Unfortunately, the universe had other plans and a few weeks into her life, we were thrown into this scary, isolating and very lonely world of unknowns as Ziya was diagnosed with profound hearing loss which meant she was completely deaf.
People deal with difficult life changing events in different ways, for us it was “what’s the fix?” Ziya would need bilateral cochlear implant surgery to help her hear again. As human beings we learn to compromise in difficult situations and this is exactly what Janesh and I did.
We were just about getting used to the idea of her deafness; learning and navigating through an array of hospital/specialist appointments, when at two and a half months Ziya had a massive seizure. At first it was like she was just shivering, but it escalated very quickly and the next thing we knew we were surrounded by about 20 people in an emergency room. It felt surreal and like something out of a movie.
All I remember that day was not being ready to lose my little girl… I could see all sorts of tubes and lines going through her it was hard to see the beautiful baby underneath all that.
The days and weeks that followed consisted of ICU and ward stays and discharges, only to be catapulted back and forth into the system for the next 9-10 months with recurring re-admissions. All the tests kept coming back as normal. I couldn’t understand why this was happening. Why were we not able to find any answers? The Genetic Services of WA were phenomenal in their support and never stopped looking even when it felt like everyone else had.
One day, nothing special about this particular day, the Geneticist who had been relentlessly searching for answers called me and said they had isolated a gene that could be the possible cause of Ziya’s condition. It was related to mitochondrial disease. Of course like any other parent I started researching, and the more I researched the more I realised that the world of mitochondrial disease is not straight forward.
Ziya has a ‘KARS gene mutation’ which means she is 1 of only 11 children in the world documented with the mutation. The neurologists then proceeded to tell us that this is a life-limiting, progressive and terminal condition and most children like Ziya don’t live a very long life and often deteriorate as the years progress. We were then referred to various teams one of which is Palliative Care. Things which no parent should have to discuss were discussed in the meeting and the words “terminal” and “life-limiting” were put into perspective. The situation we found ourselves in forced us to have to think about end-of-life care and a plan needed to be put into place.
My biggest gift to the world is my Ziya… She has taught us more than we could have learnt in several lifetimes. Happiness is something we now truly learnt the meaning of and it is something we do not take for granted.
Our day-to-day lives consist of uncertainty and mental challenges. Our hospital bags are always packed and ready in the spare room in case we have to go. There is always a contingency plan in case of an emergency. Apart from the feeding tube, there are over 11 drugs Ziya takes that sustain her, keep her comfortable and basically save her life every day.
The constant weekly hospital appointments keep our lives very busy.
Our daily life is very different to what it used to be or what I had ever imagined it would be with a 3-year-old and a 1-year-old, but there are lots of bright rays of sunshine between the grey clouds.
We still have laughter and fun. We take a breather in between the hard parts and we soak the good parts in. We have walked through fire and made it out the other side, and like many other special needs families out there will tell you that it is truly a make or break situation and puts every and all relationships to the test, but we survived.
Take what you would like from this story but please know you are not alone. There is always light in what feels like a dark tunnel ahead. Mitochondrial disease is a young subject and something that has not been understood fully. We hope Ziya can inspire researchers to focus on rarer forms of the disease.
If Ziya can contribute to that, she will have accomplished more than I had ever dreamt of since the day I held her in my arms for the first time.
- Preeti, Ziya’s mum
Sadly, Ziya passed away in September 2019.