Faces of Rare Disease: CFC Syndrome - KPLC 7 News, Lake Charles, Louisiana

Faces of Rare Disease: CFC Syndrome

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LACASSINE, LA (KPLC) -

There are only 300 documented cases in the world of people living with a condition called CFC syndrome. One-year-old Myli Miller of Lacassine has this rare disease, but does not let it take away her spirit and smile, even on her sickest days.

The doctor's office is a second home for Myli and her mom, Dakota. At least once a month, Myli has an appointment with pediatric cardiologist Mudar Kattash and the list of other specialists is more than a dozen deep to treat her and manage the rare disease.

"They didn't even know if Myli was going to make it past 20 weeks in my pregnancy or if she would be born and be still born," Dakota said. "We just didn't know."

It was during one of Dakota's first ultrasounds that a major problem was detected: excessive amniotic fluid was building up in dangerous amounts around baby Myli.

Then, the words no parent wants to hear.

"We need to maybe consider abortion if we didn't want to go through what we may be facing, but that was never an option for us," Dakota said.

Dakota had eight liters of fluid drained from her pregnant belly before giving birth to Myli three weeks early. "I can remember laying on the delivery table and saying, 'Is my baby okay, please tell me my baby's okay.'"

Myli's first few weeks were rough and it took months to get a definitive diagnosis through a blood test: CFC syndrome, cardiofaciocutaneous syndrome. It is caused by a random genetic mutation.

"It affects your facial features, heart problems and skin issues," Dakota said. "It comes along with a lot of cognitive delays."

The biggest health hurdle Myli faces is with her heart. Thickening on the left side makes her heart work harder to pump blood.

"When the heart is thick, it affects the exit of the flow to the body," said Dr. Kattash. "That's why she needs medicine to keep the heart relaxed, so we have normal flow exiting to the body to keep the body well profused."

There is a chance that Myli could need a defibrillator one day, but right now, life with CFC is all about helping her learn and grow.

Therapies are five days a week and Myli's medical coverage has been pricey, nearly $900 a month. That is a price Dakota said must be paid to improve her daughter's life with the disease.

"I just stay very, very busy trying to do what I can to make her everything she can be in life," Dakota said.

There is no cure for CFC syndrome. Eye surgeries will likely be needed one day, along with special skin treatments and heart intervention.

Still, Dakota said she would not change a thing about her little girl.

"She is the greatest gift God ever gave me. She just makes me so happy," Dakota said.

The chance of having a child with CFC syndrome is less than one percent. There is nothing a parent can do to reduce the likelihood of the gene mutation.

Dakota and her husband Dustin are raising money to provide Myli with extra therapy that insurance will not cover. They recently had a fundraiser that yielded $10,000 and will pay for Myli to attend an intense physical/occupational therapy conference in Florida this summer.

If you want to help in their fundraising efforts, click HERE.

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