By Callum Ludwig
The community’s invited to support a Wandin North fundraising event will be held for a 2-year-old girl suffering from a rare neurological disease.
Sienna Rose was diagnosed with Syndromic Microphthalmia 12 (MCOPS12), a degenerative disease affecting only about 40 children in the world, after doctors originally suspected cerebral palsy or a global developmental delay.
Sienna’s mum Annina Flint said her and her husband were able to tell there was something not quite right early.
“We were referred to the Royal Children’s Hospital clinic due to Sienna having developmental delays, low muscle tone and distinctive facial features. Sienna was diagnosed on May 3 2022, through a genetic test called whole exome sequencing (WES) caused by a variant in her RARB gene,” she said.
“We were told there were only 7 or 8 children with this condition, so they had no information to share with us and have searched Facebook and all over the internet to find other people and more information, as well as doing regular physio, hydrotherapy, speech and occupational therapy.”
Funding is needed to research a cure for the disease, as without a cure Sienna’s symptoms will continue to get worse. Common symptoms are severe (progressive) movement disorders, intellectual disorders, microphthalmia (small eyes with vision often affected) with other malformations are also common.
Ms Flint said it has been extremely difficult hearing that their baby girl could start to deteriorate and to have no idea when.
“Sienna can crawl, but is unable to stand or walk unsupported. She can sit unsupported for a short time, but doesn’t have great control in her trunk and has specialised seating, walking frame, potty etc. Sienna had feeding problems, didn’t meet milestones, low b12 and iron and is behind in speech, fine motor skills and gross motor skills,” she said.
“Sienna is such a beautiful, determined and amazing little girl, so I feel incredibly lucky to be her mum. She is cheeky, funny and just lights up the world and if we can get enough money in time, our beautiful girl will be able to only go forwards, rather than backwards.”
The fundraising event is being hosted in the Wandin Public Hall on Thursday 13 September. It is a Zumba-style dance fitness class by instructor Teena Hartrup from 7.30pm to 8.30pm for a $5 or $10 entry fee that will go towards Sienna’s fundraising.
The event is hosted by MishMash Charity Events, run by Ms Flint’s sisters Ilona Gallow and Natasha Barberio.
Ms Gallow said Sienna is the centre of their extended family.
“She is a really happy girl, always smiling, always laughing. When the family gets together, she’s a little shining star, she’s very cheeky and everyone is obsessed with her,” she said.
“She’s my niece and my sister is everything to me, there are three of us girls and we’re very close, and would do absolutely anything for them and their kids. Seeing my sister hurt is really hard for all of us.”
Sienna’s GoFundMe page, started on 12 July, has already raised $4500 of their $100,000 goal.
Ms Gallow said putting this event together is the bare minimum they could do to support Sienna.
“We are all really good at this type of thing, and have little kids of our own at home and aren’t working full time, so we’re able to put a little bit more time into it, which is really advantageous. We’re just lucky that we’re in a good position at the moment that we’ll be able to do that,” she said.
“We’ve got a few more events in the works as well, and we want to put together as much money as we can because the hard part about this is it is only affecting a small amount of people so its hard to shine a light on it. The event will be a bit of fitness and a bit of fun. Teena has been running classes for a few years and has a pretty good following.”
To find out more about Sienna, her condition and how to follow and support, see the below links:
To Donate: www.gofundme.com/f/donate-to-help-cure-sienna
Instagram page: instagram.com/acureforsienna?igshid=YmMyMTA2M2Y=
Facebook: www.facebook.com/acureforsienna
Event page: fb.me/e/3HqF0MjMV
For further information on MCOPS12: www.rarbmutation.org
Ms Flint said she hopes that by getting enough money to continue the beginning it can cure kids with MCOPS12.
“They could have normal lifespans and stop the degeneration, I want other people living with rare neurological diseases to see what can be achieved,” she said.
“I also want them to see how amazing and caring the community can be, people do care, we don’t have to do it alone.”
