Drug company steps in to help Charlotte newborn battling rare disease

Drug company steps in to help Charlotte newborn battling rare disease

CHARLOTTE, N.C. — Channel 9 introduced viewers to Skylar Rodriguez, a 7-month old girl who is battling a rare disease and may only have months to live.

​​Skylar's family heard about a new Food and Drug Administration-approved treatment that could extend her life, but it costs $200,000 and may not be covered by Medicaid.

The company that makes the drug that could help Skylar told Channel 9 it'll do whatever it can to make sure she gets the treatment.

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Ultragenyx makes the drug, and almost immediately after our story aired Wednesday, a spokesperson reached out to us directly and said they have a policy that states if a doctor decides a patient needs therapy, they'll remove any financial barriers.

We contacted Skylar’s family to tell them about the offer, and they have already started to communicate with the company about getting treatment started.

“Maybe this medicine can prolong her life,” Skylar's grandmother Cindy Washington said.

Skylar has an extremely rare disease known as MPS 7, or Sly Syndrome. There are an estimated 150 cases of MPS 7 in the world.

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

The company that developed the therapy is based in California.

"We are not going to be concerned about who pays for this drug,” said Gary Geipel, with Ultragenyx. “We're going to get this to the patient as quickly as possible."

Skylar's family said their prayers were answered.

“Somebody loves Skylar just as much as we do,” Washington said. “They're not looking at figures, they're looking at a person.”

Patients with MPS 7 are missing a key enzyme that leads to deadly organ damage.

Late last year, the FDA approved the first-ever treatment for MPS 7.

“She deserved a chance that she wasn't gonna get at first,” Washington said.

Only Channel 9 was with the family as they started gathering details from the company for how biweekly IV infusion would be delivered.

"We really thank you for taking this story seriously enough and getting it out there so that we could do our part in making sure that this young girl gets the treatment,” Geipel said.

“I get to hold my grandbaby and let her know that we didn't give up on her,” Washington said.

Doctors at Novant will guide the process and confirm if Skylar is ready for the treatment.

Ultragenyx said once a doctor gives authorization, the medicine is usually available within 48 hours.