A few years ago our family hit a brick wall. To us, life was perfect and we never questioned why our daughter, Jazelle couldn’t sit up, crawl, walk, talk or eat solid foods.
That was until a very observant Paediatrician noticed Jazelle had dysmorphic facial symptoms and puffy hands and feet. Genetic tests were ordered and three months later we were told Jazelle has a very rare chromosomal deletion called 18p- syndrome.
Our family went into a total state of shock and grief. I immediately found the Chromosome 18 Registry and Research Society website and started researching like a maniac.
When I told our family doctor he said: “Serena, I worked at Westmead Hospital for 10 years and I have never seen this”. The many doctors and specialists we visited had never heard of 18p- syndrome so it was up to us get support for Jazelle.
When we went to the Geneticist he too had never seen or heard of 18p- syndrome, and was fascinated to meet Jazelle. In fact he couldn’t wait for me to send my research to him.
He diagnosed Jazelle with a significant developmental delay, Hypotonia, Non Verbal, Ptosis, Strabisus, Delayed Motor and social development, along with other abnormalities. There was nothing he could suggest, except if there were any changes let him know.
Jazelle didn’t qualify for any funding except to attend Early Intervention and although they did their best, the provider of this service had no experience with Jazelle’s uniqueness. At first we were also knocked back for public health funding because Jazelle’s disability was too rare. So the battle began and overnight we had to become her specialists and fight for Jazelle’s right to treatments.
My partner Peter, son Zane and I all began to experience depression and anxiety. We dropped out of our community, lost many of our friends and went without family support because most of our relatives live far away and our parents are elderly or have passed. We were all alone living in the totally unknown, not knowing what the future would hold. It felt like our whole world had fallen apart.
I like to use the word “fluffed” to describe how we went along for the next two-and-a-half years, because that’s what it felt like.
When Jazelle turned 3 everything became very real. While she could now walk, she was nonverbal, choked on anything much bigger than a pea and was gluten and lactose intolerant. She also has numerous other issues.
Our wonderful paediatrician had no further answers or suggestions and we had by now stopped going to Early Intervention as there was nothing available for Jazelle on the three days she didn’t attend preschool.
Soon after, one sunny Friday afternoon we were told the public health system could no longer treat Jazelle because she was too complicated. We found out her hearing was significantly affected and that she needed an operation to potentially remove all of her teeth. SLAM! We were a mess and felt like we had nowhere left to go. All our avenues for treatment had gone.
Then I met a truly beautiful caring woman from your Coffs Harbour office and once again our life changed at that moment. From the very first meeting in her office I felt for the very first time someone actually got Jazelle and me and was there instantly for Jazelle and my family.
We talked and her knowledge and ideas were so comforting and exciting. Before I had even left her office she had applied for Occupational Therapy funding and helped me get a whole new direction of thinking in ways to encourage Jazelle.
That was six months ago and we have never felt more supported. We were once all alone but now we are not because of the support, guidance and friendships we gained from you and the other families you support. We know there is always someone there for us.
I love the fact that we get to see your team regularly through the fabulous social get togethers that you have invited us to. Within weeks of being part of your community we were invited to Dolphin Marine Magic and our family had the best day out ever. We have accepted every invitation you’ve sent us since to go there.
You helped give Peter and I our first ever night out with dinner and David Straussman, the ventriloquist show. It was a sensational evening out and we enjoyed the great company and chance to talk to other parents that were just like us.
What I really love is that you really listen to the parents. You constantly ask us what we want for children and ourselves. You want to know how you can support us as individuals and families.
It’s so refreshing to have people in our lives who really do want to help, investigate and deliver excellent information and events. I always look forward to the get togethers because I always learn something new, meet someone really cool and have amazingly honest conversations with interesting people.
We found that once we had the support from you, we had the confidence to take a new medical path with Jazelle and finally we got the answers we needed.
We found out why she couldn’t speak, why she choked on food, why she trips over and why she couldn’t use stairs. We shared all the information and you read it and were so excited for Jazelle and our family.
Furthermore you are doing everything you can to provide the resources, training and services to give Jazelle every chance at a wonderful life.
With the NDIS coming soon I am so pleased that I have you to help Jazelle transition into the new system. I am totally confident it will be easy as everything we are doing now is with the NDIS in mind and what person centred plans really are.
I really wanted to write this to really say that without your wonderful staff and support we would still be fluffing around in the medical world getting nowhere.
As a family with a totally unique little girl you came into our lives and really pulled us back together as a family unit and have provided the support, respite and courses that have really changed our lives.
Now we can work on being strong, fabulous parents instead of depressed, anxious messes that we once were when we fluffed around with no direction or support.
Serena, Peter, Zane, Jazelle