Newborn in Charlotte battles extremely rare disease

UPDATE: Drug company to help Charlotte newborn battling rare disease

CHARLOTTE, N.C. — Skylar Rodriguez was born three months early on Nov. 22, 2017, and only given 24 hours to live that first day.

"Her kidney wasn't working. Her liver's enlarged. She couldn't breathe on her own," her grandmother, Cindy Washington, told Channel 9 on Wednesday.

The newborn was diagnosed with an extremely rare disease known as mucopolysaccharidosis type VII.

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Her mom, Hunter Howard, said they're one of the first cases in this part of the United States.

"They told us there are only 150 people in the whole world that have this," Howard said.

The disease is also known as MPS7 or Sly syndrome. Patients with it are missing a key enzyme needed for healthy body function.

Body tissue and organs are damaged because of the disease. The result is a very short life expectancy for the now 7-month-old.

"At this point, they're saying that she won't live a year," said Washington.

Skylar's family said they have received world-class care at Novant Health Presbyterian Medical Center while coming to grips with their new reality.

"I'm thankful, there couldn't have been a better team to take care of Skylar," Washington told us.

But the clock is ticking with no cure for MPS7.

Late last year, the Food and Drug Administration approved the first-ever treatment for MPS7. It's an enzyme therapy drug.

However, the family's being told it will cost them $200,000 per year.

That's money they don't have, and the family is left hoping Medicaid will agree to cover the cost of treatment.

"Skylar needs it now, 'cause that medicine just might save her," Washington said.

They are left to wait for an answer about treatment and said they'll cherish every moment they have for now with Skylar.

"She's the light of my life, and I would never want that to dim," her mother said.

Doctors are allowing Skylar to leave the hospital on July 5.

Her condition will be closely monitored from home.