She’s just 2 years old, but a little girl from Derby is already in a fight for her life.
With her third birthday approaching on Saturday, her parents are using the milestone as a platform to do everything they can to save her.
Ellie Shamaly enjoys what most 2-year-old girls do, like playing in her ball pit, making food in her kitchen, and sticker-time with her mom Josephine, dad Kerry, and brother Alexander.
But Ellie is not your typical toddler. Six months ago, she was diagnosed with a rare, terminal disease.
“They told us she tested positive for Sanfilippo syndrome and honestly, when we heard those words my ears started ringing and my whole body went numb,” Josephine Shamaly said.
Sanfilippo syndrome is a degenerative, neurological disease caused by the body’s inability to produce one single enzyme.
Sadly, the consequence of that missing enzyme is catastrophic, and every second that goes by, Ellie’s body and mind are being damaged.
Josephine describes it in simple, yet painful terms -- a cruel disease that takes your child away from you right in front of your eyes.
“I think the most difficult thing is we don’t think about the future anymore. We can only think about today because we don’t know what the future has in store for our family anymore,” Shamaly said.
She said they’re already seeing the signs of the disease in both Ellie’s vision and hearing loss, along with her speech delay and restless behavior.
Making matters worse, right now, there are no approved treatments or cure available.
As the disease progresses, Ellie will lose her ability to talk, walk and eat until she likely passes in her teens.
“We had plans like everyone does for their kids like you want to see them go to kindergarten, and prom and all that, and that’s probably not going to happen for her,” Josephine said.
But she said she can’t let this disease take her daughter, and as Ellie’s only voice, she wants to not only create awareness for this disease, but also help fund critical research for treatment options for children.
“It’s us doing our part for her in honor of her birthday so that her life has meaning and has a reason and a legacy one day,” Josephine said.
While Ellie has always been a gift to this family, they’re hoping one day they can give her a gift; the gift of life.
“We wish every day that we could take it for her that it could be us and not her but we can’t. All we can do is the best for her right now, every day just give her the best life we can,” Josephine said.
The Shamaly’s are hoping to raise $10,000 by Ellie’s birthday on Saturday, the 17th, to help find a cure.
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