The family of a two-year-old girl fighting an extremely rare ‘dementia-like’ illness have vowed not to give up on finding a cure.
Little Stella Carbone has been diagnosed with Niemann-Pick Type C; an illness that is thought to affect around 500 people around the world.
The condition occurs where the individual cannot metabolise their cholesterol and lipids properly. This leads to a build-up in the liver, spleen and brain, which has a number of serious side-effects.
Those suffering with the condition experience symptoms such as vertical gaze palsy (where you can’t move your eyes up and down), jaundice, various neurological symptoms and, eventually, a dementia-like condition.
Little Stella, who was born at 33 weeks, was developing well after being discharged from NICU. Her parents, Bridgette Ludden and Saverio Carbone, told TODAY that they grew concerned around the time of her first birthday. At 17 months, Stella was not walking and had begun to become forgetful.
After having no luck with a neurologist, the couple brought their little girl to a geneticist, who eventually made the diagnosis.
While there is no established overall cure for the disease, Bridgette and Saverio have found an experimental drug that they think could extend Stella’s life. However, they are waiting on a hospital to approve treatment for the tot.
For now, they are focusing on keeping Stella comfortable, and friends have set up a fundraising page (link here) to help them along.
Family friend Laura Kehoe Boothby writes: “As of right now, there is $5,000 in insurance deductibles, and cost of formula for Stella’s feeding tube is a minimum of $380 a month (including shipping).
“There is also a loss of income for her dad, Sam [Saverio]. Sam has lost many hours of work due to hospital stays and trips to the doctors.
“Ongoing costs include: specialised care and frequent trips to multiple doctors/specialists. Everyday costs include: daycare, diapers, wipes, bottled water, enrichment toys, specialised equipment upkeep, and medical supplies.”
Speaking to TODAY, mum Bridgitte said that she and her partner are trying to make the most of the time they have with little Stella.
“She is the love of my life. The time that I have with her is probably the happiest time I will have. I want to be grateful that I have the time I have now,” she said.
We’re wishing Stella and her parents all the best with the journey ahead.
