A child's early developmental stages, be it their first crawl, their first step or their first walk, is something many parents eagerly anticipate and cherish. However, one Victorian Central Highlands mother has had to wait longer than most to experience these key milestones with her daughter.
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From the moment Rhianna Fox, of Ballarat, gave birth to her daughter, Odessa, she had a gut feeling something wasn't quite right.
Odessa, now six, suffers from Jansen de Vries syndrome and is only one of two people formally recognised with this syndrome in Australia. But even with this diagnosis, she faces an uncertain future.
For Ms Fox to receive this diagnosis, it was an uphill battle consisting of more than a year's worth of determination, strength and sticking to her intuition, and is one of the reasons she hopes to raise awareness around this rare condition.
"When Odessa was first born she spent three weeks in the special care unit at the (Ballarat) Base Hospital where the doctors diagnosed her with laryngomalacia which is a floppy larynx," Ms Fox said. "The doctors said it would take up to 12 months to clear up and after three weeks at the base we went home with what doctors at the time said, 'a healthy baby with laryngomalacia'."
But when Odessa had turned eight months old and wasn't meeting key developmental stages for her age, alarms bells began to ring for the distressed mother.
"At eight months she wasn't meeting some key milestones including rolling over by herself or sitting up," Ms Fox said.
"At 12 months we expected her to be up to the stage of being able to pull herself up on things and trying to walk but she definitely wasn't and as we progressed it became more apparent that she wasn't going to reach the same steps at the same age as other kids."
Shortly after Odessa's first birthday, Ms Fox took it upon herself with assistance from Paediatrics Ballarat's Dr David Tickell to investigate what was wrong with her daughter.
"So we started quite broad to try and find out what was going on and that mainly consisted of MRI scans to try and rule out any major abnormalities," Ms Fox said.
However, after 12 months of Odessa undertaking different tests, numerous hospital stays and with no answers in sight, Ms Fox was suggested by Dr Tickell her daughter do a genome sequencing test.
"Odessa had to have her lumbar punctured where her DNA was decoded and after six months, in December 2018, when she was two years old, we found out that she has Jansen de Vries syndrome."
What is Jansen de Vries Syndrome?
Jansen de Vries syndrome, having only been identified in 2017, is a fairly new syndrome which afflicts people differently, however, common symptoms include growth hormone deficiencies, gastrointestinal issues as well delayed neurodevelopment.
Ms Fox said Odessa experiences all these symptoms and most recently, Odessa was diagnosed as also having 'out of the blue' stomach migraines.
"She'll suddenly have a temperature, abdominal pain and then she may need to vomit and lie down but after two hours she'll be fine," she said.
Jansen de Vries syndrome is caused by a variation or miscoding of a person's gene. Specifically, there are abnormalities regarding a portion of their gene called exons and it is their fifth and/or sixth exons, responsible for the PPM1D gene, which aids with regulating DNA damage, that is malformed.
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Ms Fox said, while it was challenging for her to accept her daughter's diagnosis, she also found solace in being able to understand why Odessa is the way she is.
"Before getting a diagnosis, you're always going to have that hope that it's something that can be cured, she'll grow out of and won't be a life lifelong disability for her, so when we found out that it is going to be a lifelong disability for her, we did grieve and we were upset for the life that she could have had but we also found relief in it."
Jansen de Vries syndrome has no cure but early intervention and consistent therapy is vital in ensuring sufferers can live a normal life and is exactly what Ms Fox did to give her daughter the best start to life.
"We jumped on early intervention therapies really early," Ms Fox said.
"She attends behavioral therapy, speech therapy, physiotherapy, occupational therapy and swim therapy sessions weekly; she also goes to Ballarat Specialist School."
All up Odessa attends five hours worth of therapy sessions a week to manage her Jansen de Vries syndrome and although the sessions are helpful, Ms Fox admits raising a daughter with special needs is tiring and at times can see her neglecting her other child.
"Having a six year old still needing so much attention is tiring and I especially notice that more when I see my son, James, who is of a similar age and how independent he is," Ms Fox said.
"But then I need to remind myself that if she was neurotypical like our son she would be like that too and I need to accept that she will meet her milestones it'll just take her a little extra time and she'll get there at her own pace."
Calling on more awareness
In Australia, there is only one other person with Jansen de Vries syndrome and worldwide, the syndrome has only been identified in 15 countries across four continents.
When Odessa was diagnosed, Ms Fox said she was given little in the way of support other than a journal article about Jansen de Vries syndrome.
"They basically said 'here's a paper and here you go'," Ms Fox said.
This led Ms Fox to do her own research where she stumbled upon a person online who publicly shared her experiences with her child who has Jansen de Vries syndrome.
"I found this lady on Facebook who shared her son had the syndrome and I ended up getting in contact with her and joining her WhatsApp group where other people impacted by Jansen de Vries syndrome share their experiences and advice."
While the group currently has 36 people from across the globe, Ms Fox hopes her daughter and family's experience can set a precedent for raising awareness about Jansen de Vries in Australia.
"My hope by raising awareness about Jansen de Vries is to educate the community about rare syndromes and the misconceptions of disability," she said.
"Odessa leads a happy and healthy life through valuable support from the NDIS and early intervention from allied health professionals.
"By increasing the public's knowledge of rare genetic conditions, like Jansen de Vries, I hope to advocate for a better understanding of the unique disabilities that are present in today's communities."
