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Mindy and David Hoffman knew they had a rare child when she was born. Ruby weighed nearly 13 pounds when she entered the world and had bright blue eyes, despite her parents' brown ones.

But when Ruby's neurologist told the family in May that their daughter has a genetic disorder, they realized they have the rarest Ruby of all.

The 18-month-old West Manchester Township girl has hypomyelination with atrophy of basal ganglia and cerebellum, or H-ABC. Essentially, it's a genetic mutation that causes degeneration of the white matter of the brain. Her condition will worsen as time goes on, meaning she will lose skills such as walking and talking  — if she ever develops them.

However, not much more is known about the disease because Ruby is one of fewer than 100 people in the world with H-ABC.

"We found a support group on Facebook after we got her diagnosis," Mindy said. "There's literally 28 members in it from around the world."

Development: Mindy and David said they noticed there was something off about their daughter when she didn't reach certain developmental milestones, such as being able to hold her head up on her own and grasping at different objects.

The two were told to get a neurologist for Ruby. After a month of tests, MRIs and lost sleep, the family got their answer. However, it wasn't the answer the little family expected.

"I thought it was Alexander disease," Mindy said, referencing a similar leukodystrophy, or degeneration of white matter in the brain.

There have been fewer than 500 cases of Alexander disease reported since 1949. But there's even less known about H-ABC.

"We fought so hard for an answer, and now we have even more questions," David said.

Ruby and her family still work every day to reach the milestones that a typical child reaches. She can hold her head up for about 20 seconds and can grab at different objects. She tries to talk and gets simple sounds out. She can move her feet forward if her parents help her by holding her up.

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The 18-month-old Shiloh girl has hypomyelination with atrophy of basal ganglia and cerebellum, or H-ABC. Essentially, it's a genetic mutation that causes degeneration of the white matter of the brain. However, not much more is known about the disease

Support: The  family doesn't know exactly how much time they have left with Ruby. She could make it 10 more months or 10 more years, Mindy said. Because so little is known about H-ABC, there's no typical life span for those with the disease.

It hits people at different times of their lives, too. Ruby's doctors think she's the youngest person in the world to have it.

With so little information available, the couple relies on the Facebook support group for a lot of their bearings on the disease.

"I try to get my vision of Ruby's future from that," Mindy said.

Since they joined, two children have died from the genetic mutation.

None of that stops them from enjoying every moment with the bright-eyed little girl.

"Having her in our lives is a blessing," Mindy said. "She's so happy. She's brought out the best in me. She's a joy in our lives."

The Hoffmans' friends and co-workers have rallied around the family. Mindy is a server at Hawk's Gunning Club, which Alyssa Firth Rohrbaugh frequents. The two have become friends over the years, and Firth Rohrbaugh said she cares deeply for the family.

"They are as humble and as sweet as can be," she said. "Ruby is precious. They have a ton of support from the community and their church."

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Enjoying now: Even though the couple are constantly at doctor's appointments and going to physical therapy for their daughter, they enjoy the now. Ruby can wave and smiles all the time. Her bright blue eyes are always wandering the room looking for something different.

"She's so smart," Mindy said. "All her therapists say the same thing. She wants to be a part of the group."

Some of the things the family needs to help them enjoy the present are special seats and walkers for Ruby. Those can get expensive, though. David does computer-aided drawing for York Steel Rule Dies Inc. Even with both parents working, he's nearly used up all his time off in a year to help Ruby, and the couple can't afford to wait to get some of these items to help Ruby's development.

The couple has set up a GoFundMe page to help raise money for these added expenses.

"Because this disease is degenerative and progressive, Ruby is going to need all types of assistive equipment, ranging from special seating, bath equipment, bedding, car seat and things we haven't even thought of yet," Mindy said on the fundraising page. "She will need further medical tests, extra therapy, back and forth to appointments to Baltimore, Washington, D.C., or Philadelphia. We are also trying to save up for an accessible van."

Family and friends have raised more than $8,700 for the family as of Tuesday.

The family plans to attend the United Leukodystrophy Foundation conference in Nebraska this July so they can reach out and learn more about the disorder that affects Ruby.

To help family and friends stay up to date on Ruby's condition, the couple has set up a Facebook page called "A Rare Ruby," where they post regularly.

For now, the family is taking it a day at a time.

"Her doctor told us just to have as much fun with her as we can," Mindy said.

— Reach Katherine Ranzenberger at kranzenberger@yorkdispatch.com or on Twitter at @YDKatherine.

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