An Australian couple have appealed for help this week, following their daughter’s diagnosis with an extremely rare condition.
Little Rumi Willis Cooper, aged just seven months, is believe to be one of ‘two or three in the world’ with Mosaic Trisomy 2.
This is an extremely rare chromosomal disorder that can cause a series of birth defects. Rumi’s specific diagnosis is Mosaic Trisomy 2, with Maternal Uniparental Disomy 2.
Rumi, who was born in March, was diagnosed following a ‘complicated’ pregnancy for parents Jessica and Pat Stein.
After being told that her water was breaking back in November, Jessica was admitted to hospital and put on bedrest at 24 weeks.
Little Rumi was born ‘tiny but not premature’, and is described by her mother as ‘one of the rarest girls in the world’.
“Our genetic specialists at Sydney Children’s Hospital have told us that there are less than 10 cases in literature,” explained Jessica, on a GoFundMe page (link here).
“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 two to three in the world. The eldest recorded age that they could trace is aged three.”
The entire family is ‘battling hard’ as Rumi recovers from surgery at Sydney Children’s Hospital. While the tot is receiving the best care possible, it’s an extremely difficult situation – mainly as there is no prognosis available.
As Rumi continues to receive treatment, Jessica and Pat find themselves in a difficult situation. They have gone through their savings, and are struggling to make rent right now. This is why they need the help of the public.
“We have already borrowed a few thousand from family to tide us over, but rent is due yet again, and we currently have $202 between us,” Jessica revealed.
Jessica and Pat have not been able to work due to looking after Rumi.
“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,” the worried mother explained.
“Ru’s health is invaluable, and all of the money in the world couldn’t change her diagnosis and the uncertainly of it; but we would love to be able to afford more specialised care and opportunities for her.
“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…”
Jessica added that money raised will be used for private health cover; therapy, and medical and physical equipment; to pay back or make contributions to Sydney Children’s Hospital and other organisations; medical needs as required; additional therapies; and raising funds and promoting awareness for rare conditions.
The page was created just yesterday, with a target of $100K; incredibly, through the overwhelming generosity of the public, the pot already stands at over $172K.
Jessica is sharing her story over on Instagram, and you can follow Rumi’s progress through the GoFundMe page, through this link.