Sikeston infant diagnosed with rare disease - KFVS12 News & Weather Cape Girardeau, Carbondale, Poplar Bluff

Sikeston infant diagnosed with rare disease

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"She's our own little angel," Kari Jacobsen said. "She acts perfectly normal, but yet her body is fighting to just be able to learn to try to hold her head up right now." "She's our own little angel," Kari Jacobsen said. "She acts perfectly normal, but yet her body is fighting to just be able to learn to try to hold her head up right now."
SIKESTON, MO (KFVS) -

The Jacobsen family said a rare disease has changed their family’s life forever.

Carl and Kari Jacobsen’s infant daughter was diagnosed with Pompe disease. According to the National Institute of Health, the disease only affects about one in 40,000 babies. If untreated, Pompe is fatal.

As of 2006, there is a treatment. However, it’s treatment that will have this family driving to St. Louis every other week.

"With the treatments, it's not just something she is going to get once or twice a month and then in a year she is going to be perfectly fine and healthy,” Kari Jacobsen said. “It's something she's going to have to do every two weeks for the rest of her life."

On the outside, little Georgia Elizabeth is a beautiful, healthy one month old baby girl.

"She's our own little angel," Kari Jacobsen said. "She acts perfectly normal, but yet her body is fighting to just be able to learn to try to hold her head up right now."

However, on the inside, Pompe disease is stopping her little muscles from growing.

"The majority of kids that have the infantile version will not reach their first birthday, without treatment,” Carl Jacobsen said.

Still, the Jacobsen's say there are a lot of unknowns because the treatment is so new.

"Yes, we are hoping that the treatments work and she's going to be able to be a normal child but we just don't know,” Kari Jacobsen said.

"There's just not enough data right now for us to give us a definitive answer right now on anything,” Carl Jacobsen said.

The child's pediatrician says in 14 years, Georgia is the only patient she's seen with Pompe.

"It's very uncommon,” Dr. Cindy Matos said.

Dr. Matos said catching Georgia's condition early was key, especially because the disease is so rare.

"Nowadays, the medicine is more advanced than it used to be in other times. She was diagnosed before she got any other symptoms. She's a healthy newborn. Other than that she looks fine,” Dr. Cindy Matos said.

The Jacobsen's say Missouri is the only state that requires doctors to tests infants for Pompe. Two years ago, the couple moved from Florida to the Heartland.

"I feel like God lined everything up to be in place, knowing that in two years down the road you're going to have a child with this disease, you might want to be in a state that tests for it,” Kari Jacobsen said.

They say God led them here, and He'll continue to lead them as they raise little Georgia.

"We hope that she has as much of a normal life as she can and that, regardless of how long we are blessed to have her in our lives, she'll always be perfect to us and we will always strive to keep her life as normal as possible,” Kari Jacobsen said.

The Jacobsen's will have to drive to St. Louis to the Children's Hospital for Georgia's treatments every two weeks.

While her Dad's insurance covers the actual treatments, it doesn't cover co-pays or, of course, their travel expenses such as gas to get to the hospital. The family said there will also be other expenses that will come along with their daughter’s special needs.

The family has set up a fund to help the Jacobsen's with those expenses. If you're interested in helping, click here.

Copyright 2014 KFVS. All rights reserved.

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