Tammy (Cruz’s mum): Cruz started having troubles soon after birth with failure to thrive, then a twisted bowel needing surgery. He ended up in ICU and barely left hospital for the next 18 months.
A blood test showed Cruz has an incredibly rare diagnosis called 2q37.3 Deletion syndrome, which is only known in 100 people across the world. Cruz is extra rare because he also has duplication in his genes and this particular deletion/duplication combination has not been described in anyone else in the world.
Getting his diagnosis was a relief but also daunting. We had to come to terms with the seriousness of it because up till then we had hoped he might grow out of it. We had to accept life would be difficult for Cruz and there was no quick fix.
Cruz is three and half now and his problems include low muscle tone and developmental delay. His biggest challenge at the moment is learning to eat because up till now he had been fed by TPN and a mic-key button. Now he is finally able to eat he has a food aversion and has to learn to chew and swallow because he has never had to do it.
Cruz looks like an ordinary three year old but he can’t walk, talk or eat. Because of this many people don’t understand and don’t hesitate to comment, for instance if I use a disabled parking bay.
Sometimes I carry Cruz in a front pack for convenience and people often ask why I am carrying such a “lump” and say he should be walking. Obviously they don’t realize how much I wish he could walk along beside me. Sometimes it makes me laugh but sometimes I get tired of explaining.
We have been very fortunate to have a very dedicated and reliable health care team for Cruz who are a huge support. In particular having Cruz’s own dedicated paediatrician, Dr Wilson, who has known Cruz’s his whole life and has been there every step of the journey; as well as a Connected Care Nursing Team at the Gold Coast University Hospital who have helped immensely especially in the early days with so many appointments both in Brisbane and Gold Coast.
Cruz’s medical team has constantly kept us on their radar, checking in and providing information, help and support wherever needed. Having this safety net has relieved a lot of stress and pressure from Nath and me, knowing there are caring professionals who keep a close eye on Cruz and his wellbeing.
Having a rare diagnosis is challenging. I had to look across the world using a special search engine to find a support group so I could get more information and share experiences with people who might understand.
You don’t have access to the standard support groups or funding. We are New Zealand citizens too, so we have to fund most things ourselves as well.
We’ve learnt a lot from Cruz already, like determination, perseverance, patience and happiness. During his long stays in hospital, and even now still being being jabbed by needles every day, he manages to stay happy and keep our spirits up even on the hardest days.
Since Cruz turned three we can’t believe all the improvements he is making. It makes us so proud to see him working so hard to sign, eat and walk.
Cruz recently got a machine that speaks for him. The first thing he did is press ‘I love you’ over and over. At first I thought it was just random, but he kept pressing it and calling out to get my attention so I knew what he was trying to tell me. A parent can’t ask for more than that.