Just under a year ago Nikita and her husband Harley received the most devasting diagnosis for their youngest child Isla - Battens Disease, a rare genetic disorder otherwise known as Childhood Dementia that affects 1 in 100,000 children and Isla being one of only two children in Australia with CLN1.
Nikita became concerned about her little girl when she hit 18-20 months and her development was very delayed. She had hit her milestones rather quickly up until that point - she rolled, sat up, crawled, walked, said a few words, was eating independently, all the "normal" things. After pleading with
Nikita saw a few doctors before she was taken seriously. On her final visit she pleaded with a physician who finally listened and fast-tracked Isla's paediatric appointment from July 2021 to early March 2021. All the necessary tests were conducted over a week. All genetic testing results were going to take up to eight weeks and, in the meantime, all other tests were coming back "normal". Fast forward a few weeks and Isla was regularly in and out of hospital. She had lost the ability to walk, stand, and was constantly lethargic. She'd stopped chewing, was choking, was back on puree foods, and her general health had deteriorated very quickly.
This rare genetic imprinting disorder that will profoundly affect her life in every aspect. This disorder will cause Isla to struggle with developmental delay, speech impairment, painful seizures, vision impairment and loss, problems with thinking, movement and balance! It also means Isla will always require around the clock care, and eventually, palliative care and currently there is no cure!
Nikita and her family are determined to not only spread awareness about this rare disease but hopeful that once Isla is accepted into clinical trials in the US her life and abilities could be improved significantly. It is their mission to be loud and proud and spread this story far and wide to give Isla every chance and opportunity at the life she deserves.
To support Isla and her family please click the links below to donate if you are able and if not please share this story.
ISLAS FUNDRAISERS:
GOFUNDME: https://www.gofundme.com/f/help-isla-hunters-battle-with-battens-disease
MY CAUSE: https://www.mycause.com.au/p/275288/please-help-islas-battle-with-battens-disease?fbclid=IwAR0UpRALCNsQLlqqGS-IWgpWusjMMfXG5plkvZAymImrPBkle09myBgIuno
NIKITA
INSTAGRAM: https://www.instagram.com/nikitamarlee/
FACEBOOK: https://www.facebook.com/NikitaMarleeRipani
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Support the show
You can follow and connect with me here:
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FACEBOOK: https://www.facebook.com/search/top?q=the%20innerview
Thank you for listening if you enjoyed the episode i would love it if you could leave a rating and review! X