If you happen to see a photo of her or meet her in the Hospital you might see how timid and gentle she is, greeting your face with an enormous smile and bursting with her own unique personality that is larger than herself. She radiates wisdom and energy. She is tiny but she was not born premature. She is one of the rarest girls in the world.
After a complicated and closely monitored pregnancy we were somewhat prepared for our uphill battle to continue for a little while longer and anticipating a NICU stay. But we could never have grasped just how hard it might be for her, and how strong she was to arrive in our world at all.
Our Ru was diagnosed with Mosaic Trisomy 2, with Maternal Uni Parental Disomy 2.
Our Genetic specialists at Sydney Children’s Hospital have told us that there are less than 10 cases in literature. There have been thousands of prenatal cases that all end in miscarriage, termination or stillbirth. They are uncertain of how many others currently share this diagnosis, their best guess is 2-3 in the world. The eldest recorded age that they could trace is aged 3.
There is no prognosis or statistics available as there simply isn’t any.
Ru is currently recovering well from surgery at Sydney Children’s Hospital, where we spend most of our time either as an inpatient or outpatient (travelling down from home on the Central Coast, 2 hours away). Ru’s main medical teams consist of Paediatricians, Genetics, Gastro, Renal, Immunology, Orthopaedics, Dietetics and Speech Pathology.
Most days we can barely hold ourselves up let alone each other. We thought that we could just take each day as it comes and focus on the current battle. But with each new day came a new battle. This rollercoaster started nearly a year ago now, when I was told my water broke last November and admitted to Royal North Shore Hospital on bed rest from 24 weeks.
Pat and I would like to stress how uncomfortable we are to be asking for financial help and want to be completely transparent. We have already borrowed a few thousand from family to tide us over, but rent is due yet again. Pat and I haven’t been able to work due to caring for Ru around the clock (Pat had finished his Honours Degree just 2 days earlier). We have lived off what little savings we had, prioritising paying the rent for a house we barely get to live in and frozen meals each day while we split shifts in Hospital. Pat tried to work casual hours with a friend doing labouring, but never finished a day without a call from me in the Emergency room or in the back of an Ambulance.
We feel extremely lucky that we do have a roof over our heads, a small car to share and charities helping us with accommodation while living here in Hospital. We are even luckier to live in a country like Australia who provides such incredible public health care. This is so much more than other people have to get by with in times of crisis.
Ru’s health is invaluable and all of the money in the world couldn’t change her diagnosis and the uncertainty of it, but we would love to be able to afford more specialised care and opportunities for her. We wish the world around us would pause and wait for us to catch up, to not have all of these outside financial stresses weighing on us so heavily while we’re focusing on getting her as well, comfortable and independent as possible. It may takes months or it may take years. It may take thousands or it may take more. We have absolutely no idea what ‘goal’ to aim for as we don't know the level of care Ru will need over the years but absolutely anything would make a difference.
If you are willing and able to help our family through this time we would be so grateful. More than any words could ever reach….
How funds raised would be used:
- Private Health Cover for Rumi (only) to see a specialised Paediatrician.
- Physiotherapy, Occupational Therapy, Speech Therapy until NDIS application is approved for Early Intervention alongside the Cerebral Palsy Alliance.
- Medical and physical equipment as required (NG pump and tubing, medication, syringes, seats, chairs, walkers etc).
Any additional funds would go towards:
- Pay back or contribute to the medical and situational support given to us by Sydney Children’s Hospital, Gosford Hospital, Royal North Shore Hospital, Ronald McDonald House Randwick and Central Coast Kids In Need.
- Medical needs as required (G tubing, special food and supplements etc).
- Additional therapies when suitable such as Swimming lessons and Music therapy.
- Raising funds and promoting awareness to help the many others in similar, and much worse situations (see more below).
Pat and I have spent a lot of time in hospitals meeting parents, carers and families of unwell kids. Since sharing a little on Instagram I have been inundated with people from all over the world, expressing their empathy, support and similar situations. Pat and I can’t help but brainstorm about how we should try our best to raise their voices any way possible.
We have a dream of starting our own charity based resource focused on the carers and those closest to children with extremely rare disorders, but are aware our current situation leaves us unable to invest what we would like in this. If you have a personal experience to share, an idea to pitch or a resource to contribute towards making this possible please leave a note in comments below or email. Any additional funds raised here will go towards making this a reality. The very least we can do is start the conversation.
For anyone out there unable to contribute financially there are many other ways you could help Ru and families in similar situations. Please consider:
- Donating blood and plasma.
- Donating bedding, towels, toiletries etc to Ronald McDonald House (or similar), or organise your workplace to provide a meal one night per month for the families staying.
- Host an awareness night raising funds for a family, Hospital or Charity of choice.
- Donate any ‘thing’ you could spare to auction off (photographs, art, weekends away etc).
- Just give. Anything you can. A smile, a hug, a conversation, a coffee. These can be the most trying moments of our lives and every small act of kindness will be remembered.
Thank you, from Jess, Pat and Ru. X
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