"... Ten Fingers and ten toes, isn't all it takes". The beginning.

Where do I begin.

The Journey to get to current time is kind of a long story, but I'll try and make it short and sweet. Because boy was it sweet, so bittersweet. Jack and I first met February 2011 at Wollongong city beach. We were 16 and 17, young, dumb and fell in love instantly (Yuck lol). I knew from the very beginning that he would be a very special person in my life, little did we both know how important we would both be to each other. He was my rock and my safe place. I hope I was the same but being 16 I probably was a handful... ha! through school, working, university and five years later we got engaged. It felt like a dream you'd never want to wake up from. Obviously every relationship has its fair share of problems but in retrospect I think we'd both agree how silly and small they were.

From the very beginning children were something we both wanted. But we didn't think Genetic testing was something we would ever have come into our lives as both sides of the family, there was nothing that presented as worrying. It was a thought you'd have at the back of your head, but you'd keep pushing down because we weren't trying yet so why put the stress on ourselves?

25th of November 2017 Jack and I got married. A day that is filled with so much happiness. The Day you always dream about as a little girl had finally happened. Every other part of my life seemed to be going according to plan. you know the list of things you are conditioned to believing is the right way. The you first meet, move in together, get married, have kids and live a long life filled with love.

On the 1st of November 2018, we welcomed our Beautiful Kye Patrick into the world. Life was bliss at this point. Kye was born Healthy, you know the ten fingers and ten toes kind of healthy. The healthy we are conditioned to believe that's all you need to hear. Unfortunately Kye was born with Inguinal hernias in his scrotum and an enlarged anterior fontanelle. Both of which numerous people and Drs telling us it can be quiet common. Little did we know that having both probably wasn't as common as first thought.

Apart from all that Kye was Genuinely a happy and healthy baby. Growing and thriving! Besides being a horrible sleeper. He was the perfect baby and we couldn't wait to see who he'd become. 6 monthly appointments with our then paediatrician (who I will not name, but someone who lacked a whole lot of empathy) would tell us to monitor his development and his fontanelle. Again Everything was going well or so we thought. Until Kye reached the age of 16 months and his speech was not at the level it should have been. I think at that point, I might have had some worries but nothing Jack wouldn't put it at ease saying " he's fine, he'll start doing it when he wants" . Those words near the end make me feel so twitchy looking back on it.

Going through this period of being blissfully unaware of anything being wrong with Kye, we were in the talks of growing our family and giving Kye a sibling. It wasn't long until we fell Pregnant with Our Gracie. We were filled with so much love and excitement for this next chapter of our lives, seeing Kye become a big brother, the BEST I might add. November 2020, a few weeks just after Kye's 2nd Birthday and multiple hearing tests to tell us Kye would need grommets, we were given the news that there could be a possibility he could have a storage disorder. Those words to this day have echoed in my head. In an Instant I knew that my life, our life was forever changed. I was around 20 weeks pregnant at the time and the paediatrician had rudely suggested because of what she thought we should do it right away so I could have an abortion. Yep that's right. They said that. I was filled with so much anger as our baby was a bloody baby! she was a human and to even think about doing that made me so angry. Don't get me wrong, I'd always put my trust in Doctors and would think of them knowing all in their field and I had thought maybe they were right and it was what needed to be done. But something within us knew that she was wrong. This baby no matter if they had any disorder at this point was far to late to anything like that. I had built a connection with her. I was not coping at this point and really reclused into myself. Jack could see this and made the decision while talking to an amazing genetic counsellor at Liverpool hospital that we would wait with testing until Grace was born (which in hindsight we wouldn't have gotten the results until I was due to have her anyway) . Jack thought it was the right decision or the best decision because i was not coping and in his own way he thought Kye was Kye and he was fine! He was still Growing and doing new things. Until he stopped.

On the 9th of April 2021, Our Grace was born "healthy". I knew it in my bones that it was different. she was different from her brother. No hernias, no enlarged fontanelle. Just perfect. we Studied her and I think we were just waiting for a "but". we never got it and soon took her home to meet her big brother. Kye had his Grommets Put in and months of therapy and living in a bubble that everything was fine, I knew in order to move forward I/we needed to get the testing done. We were lucky enough to have found a new paediatrician that I feel so blessed to have found. She empathised (truly! she had feelings!) and wanted our concerns to be looked at. We got the testing done.

Looking back I knew it wasn't going to be good. I even said it to Jack " I just hope its not degenerative" like my mothers instincts the ones you get told about knew already . Waiting for those results is a time I look back now and hate. It was long and tiring, so hard to go on with life as again "normal" (hate that word so damn much!) until the day I don't think we'd ever forget.

The worst day of my life.

29th of November 2021, 3 weeks after our Boys 3rd birthday. Jack got the call from Westmead children's Genetics team. Jack was told the most horrible news any father wants to hear. "Your son has a Neurological Disorder called Sanfilippo Syndrome. its Degenerative". I can't imagine how he'd be feeling driving home to tell me, That I heartbreakingly right. Our forever wasn't going to have our Kye in it. Those Next couple of days telling family and friends the news was literally replaying that moment over and over again. It sucked.

My heart was completely broken. The worry of what was to come, how long did we have? what does this all mean? what about Grace? all were answered and to be honest devastating to hear. We are looking at early teens due to the progression they could already see. They cant give us an exact timeline, but there's obviously things to look out for. For Grace it was a 1 in 4 chance she would have it ad needed to get tested.

That day I died. Life would never be the same. I would never see Happiness as I once did. The old me was gone.

15th of December we were given the most bittersweet news that Grace was clear from NOT having Sanfilippo. We cried of happiness but also sadness as this is what we wanted for our Kye. Unfortunately this is the cards we have been dealt. Its pretty bloody shitty. We could use all the why us and the why me cards till we were blue in the face but we are only the passengers in this story. Its Kye's. He thinks his life's pretty awesome and well duh! it is! He knows no different! Kye has always been Kye!

And thats how we got here.

We as a family unit Have decided to live life to the fullest and do as many things with him while we can. taking photo's, being in the photo's. Going on adventures and just saying YES! to life. We just want to give him every opportunity to do all the things and more kids his age would do. It's what he and Grace deserve.

So smile more, say yes and just live in the moment. Because the life you thought you'd have, can be taken from you in an instant. People can be gone in an instant.

Just #smileforkye