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Fair For Rare: ETHAN's Story

Our son Ethan was born in September 2013 and everything seemed fine. As time went by and he was getting older, we realised he wasn't thriving like a baby his age should be. We took him to three different paediatricians, had blood and urine tests and was admitted into hospital twice for being dehydrated though was told that each child develops at their own pace.


Ethan was not crawling, talking, or even sitting without support by the age of 11 months so we knew something wasn't right. After pleading with the paediatrician to find out what was wrong, we were admitted to hospital again and Ethan went through three days of being on a drip, having seven blood tests, four urine tests, two stool tests and a number of different doctors coming to see him. We were eventually referred to the Renal Clinic at Westmead Children’s Hospital because they informed us that his kidneys were leaking all the essentials we need.


On 19 September 2014 (two weeks before Ethan turned one), I was told that he had cystinosis. I had no idea what this was and had never heard of it before, so I sat at the hospital and looked it up on the internet. That is when it felt like my heart had been ripped out and my world had fallen apart. It was one of the hardest days and I held Ethan so tight telling him we will get through it together.


After two blood tests twice a week for the first few weeks and a lot of tests and different appointments, we now have an understanding of what cystinosis is. Ethan is now on eight different medications every six hours for the rest of his life. It was so exhausting travelling back and forth from the hospital a few times a week before the doctor said to us, “Ethan will need the gastrostomy tube surgically inserted into his little belly and will need to be fed via this at night time.” The words seemed to have escaped her mouth so slowly as I digested what I was being told. In a way, I felt like I had been knocked down as I had been doing all I could to help Ethan put on weight but obviously, I was not doing enough.


After 16 and a half months, Ethan finally took his first four steps and it just happened to be witnessed by both myself and my partner, Chris. This really touched our hearts as Chris is normally at work and doesn’t get to witness big milestones like this. There were tears of joy and Ethan’s siblings were cheering him on. We have all been waiting for this day to come when our little man has enough muscle tone in his legs to carry his body without assistance. So, so happy!


Since having the gastrostomy tube inserted, Ethan has thrived and we weigh in every single night as he loves to see every 100 grams he puts on and can’t wait to tell the family so we can all do a celebration happy dance. In saying this, there are also times when the scales tell a different story and his weight has decreased dramatically and therefore, Ethan gets really upset.

When Ethan turned three-years-old, he started doing karate with his three older siblings. This was one emotional day as he received his karate gi and looked like a little ninja. Karate has helped him with his independence, balance and gross motor skills. Ethan entered his first karate tournament and came second in sumo. He was so proud to have walked away with a silver medal and now has enough confidence to strive for more at the upcoming tournaments.


Ethan started pre-school this year (2018) and loves attending. We made a folder for him to take to show the kids in his class, which explains all about his condition and how it is not contagious so there is no need to treat him any differently. Ethan presented this to his class and has since gained numerous friends and his confidence has soared to the next level. Ethan's teachers explain to us on a daily basis how he has really enjoyed his day and inform us of different things he does that he wasn’t doing before - for instance, sliding down the slippery dip on his belly. Ethan has always worried that his button would rip out of his belly but when he is playing with his friends, these fears go away.


Overall, Ethan is doing really well and at his last hospital visit, was asked if he would like to start a growth hormone. After we, alongside the doctor, explained that he will need to have an injection in his leg every single day and that it will sting a little bit, Ethan's response was, “sure - I want to be bigger then my little brother Morgan” and it's things like this that make my job easier in the long run. Ethan has started having ointment for his eyes at night time just to help eliminate the crystals that are forming in his eyes.


Ethan has entered a few more karate tournaments and a few weeks ago, walked away with five medals with one of them being GOLD for sumo wrestling in his division. He was so proud of himself as were our family. This gave Ethan the confidence to strive for more. Over the course of that tournament, he received one gold medal, two silver medals and two bronze medals.


Every year, there is a conference in California for the families with cystinosis and we aim to get there every year although this can be tough due to the expenses that are involved. We sell Cadbury fundraising chocolates to raise money to get the family there and have started doing a yearly fundraiser night to help. These conferences are amazing and full of very important information for not only those suffering from this disease but for the entire family and the doctors that treat Ethan at Westmead Children’s Hospital. Ethan gets to play and hang out with other kids that are going through the same things he is from medication, tube feeding, vomiting, odour, smelly breath to having the same special button that he has. He simply feels ‘normal' for the few days we are there. Raising funds and awareness for cystinosis is a huge part of our lives now and we rely on our family, friends and the community to help us make this disease known. #cystinosiswontkeephimdown.


Please follow Ethan's story via his Facebook page