Providing information and support to families caring for a child with an undiagnosed or rare genetic condition.
Marrium Valentina (Maz) was diagnosed with Smith Kingsmore Syndrome after 16 years of searching for answers. Angelina (Maz’s mum) presented at the SWAN Australia Disability Transition Conference in 2021. This story is based on her presentation, which can be viewed here.
It’s been a challenging and very slow journey since birth and now Maz is 18 years old. She was born breach, so an emergency C-section was needed. She had a large fontanelle and was not reaching her milestones when she was supposed to. We had appointment after appointment of X-Rays, MRIs, operations for her ear tags and the list goes on. Our world has changed from Day 1, adjusting to this new life was a nightmare and demanding as you can imagine. Perspective of friends and family also had an impact on this change. She taught us patience, understanding and most of all, love for everyone however they are.
Seeing the paediatrician and what he said was devastating and killed me inside.
“She is spastic”
“She will never walk or talk”
I had so many questions. What is he saying to me? Why is this happening to us? Why is she like this? What did I do wrong? How are we going to cope? What do we do now? Who is going to help me? In my world, no one understood what we were going through.
But you know what? She walks, she talks, jumps, runs and knows three languages. She also knows all the songs on the radio. She is just amazing.
My biggest support was my husband Sam and my 19 year old daughter Juliana who have also made Maz what she is today. Extended family grew up with her but didn’t really understand her or didn’t even have the patience for her. The only help I got was from a few friends and a few family members but mainly my brother Albert and sister-in-law Maree. Maree would take her out for the weekend so I could have a break. But they passed away on the MH17 plane over 7 years ago.
Both of our parents were an amazing help. They did what they could while she was growing up but now they need help themselves as they are elderly. Every year is a whole new ball game. Next year she’ll be 19. That’s the next phase of her life in which the headache starts again finding adult placement, a new respite place, and dealing with Centrelink and NDIS funding is always fun for everybody.
We chose an SDS school for Marrium, which was a hard decision to make. We had so much support with early intervention at childcare, which has helped her so much to be the young lady she is today. I remember during early intervention, I found out about SDS schooling. I remember meeting the principal of Marrium’s school at the time and she said Marrium would be suitable to attend the school and that she wouldn’t cope with mainstream schooling.
Maz did the IQ test and fell below 50 which was a shock to us. I was in denial. I thought she would be going to a normal school. I wanted her to be normal. We couldn’t cope with her going to a special school and my world just tumbled.
However, there are so many positives of an SDS. The classroom sizes are great, one to four ratio, averaging around six students per classroom. Each classroom has a specialised teacher with an educational support. There is also additional support from student placements every term. SDS also has a music teacher, art teacher and a mental health worker one day a week to provide additional help and activities. Small schools provide more attention for the students which Marrium loves. Since working at Marrium’s school, I have formed a special bond with the families and parents at the school as I relate to them. I also became a parent liaison officer which was perfect for me because I am the mother of a special needs child.
Pictured right: Maz welcoming ‘Rainbow Sparkles’ to the Government House scarecrow family, representing her school.
We have found NDIS therapists to work with Maz, which includes psychologists, physios and additional speech and OTs so that Maz can make the most of the resources of NDIS. We also joined Merri Health and SWAN. It was the best decision to join two great organisations. After 17 years of genetic testing with Maz, she’s been diagnosed with a rare syndrome called Smith Kingsmore Syndrome.
Thanks to Heather at SWAN for allowing me to tell Maz’s story. I am sure all families will relate to us and have much more challenging and bigger situations to deal with. We are all in this together to support each other. My family is here for you if you need us. Thank you.