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York County toddler celebrates her 3rd birthday and the holidays despite rare brain disease

For one family in York County, being able to celebrate Christmas with their 3-year-old daughter is their biggest bles...

Posted: Dec 27, 2017 5:19 AM
Updated: Dec 27, 2017 5:20 AM

For one family in York County, being able to celebrate Christmas with their 3-year-old daughter is their biggest blessing.

That's because she has a rare brain disease called H-ABC, and every day, they say their little girl defies the odds.

Ruby Hoffman is that 3-year-old little girl who was diagnosed as a baby with H-ABC, a form of Leukodystrophy, which affects the brain and worsens over time. Less than 100 people in the world have H-ABC, and the Hoffman family says they're thankful for every day they have with Ruby because they don't know which one could be her last, but they're very optimistic.

For the Hoffman family, each day is another chance to teach their 3-year-old daughter Ruby something new.

"She is starting to do more now. I think that she is pointing at things, and she is able to communicate. We're working on some signs. Being a 3-year-old is a lot of frustration. She wants to do things like all the other kids do," said Mindy Hoffman, Ruby's mother.

As a baby, doctors diagnosed ruby with H-ABC, a form of Leukodystrophy which causes mobility difficulties, delays mental development, and worsens over time.

Currently, there is no cure for H-ABC.

"I think we've seen a couple little regressions here and there, but we make up for them in other ways, with chewing and swallowing. We make a couple little adjustments, and we make it work," explained Hoffman.

Ruby's mother, Mindy, is very hopeful. Ruby just celebrated yet another milestone, her 3rd birthday, and soon she will go to school.

"I have faith and maybe a little bit of denial about what's going on… because to me, Ruby is perfect," explained Hoffman.

The family says Ruby is like any other girl her age, a little stubborn, a bit sassy, and ready to be independent.

"She wants to do it herself. She knows the things other kids are doing, and she has the want to do it. It's her brain keeps her from doing it the way you and I do," said JoAnne Bennett, Ruby's grandmother.

The reality of the diagnosis hit the Hoffman's hard, but they say love and support from others helps them cope.

"Would I give all that up so that Ruby would be a typical child? And yes, I would," said Hoffman.

They hope others can learn from Ruby's story.

"I feel so blessed, you know, not everyone gets to live in this life and to appreciate little milestones the way we can," said Hoffman.

Again, less than 100 people in the world have H-ABC. The Hoffmans want to spread awareness about it so they can try to find a cure.

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Patchy dense fog is also across the area this morning. Sunshine and mild temperatures will take over this afternoon with highs in the mid 60s. Saturday will start off dry and sunny with temperatures warming back into the mid 60s. Late Saturday into Sunday shower and thunderstorm chances return. A few thunderstorms could be on the strong to severe side. Several fronts will move through the area next week giving us roller coaster temperatures. Next week looks to start off dry but rain chances will return by mid week.
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