A six-year-old girl ages backwards due to a rare disease that gradually paralyzes and blinds her

Just a few months ago, Khloe Garcia was running, jumping and playing like any other kindergartner.

Now six years old, he now relies on a walker and strong glasses to move and see. Her teachers believe it will only be another year before she can walk at all.

Khloe, from Nashville, was diagnosed last year with metachromatic leukodystrophy, a rare genetic disorder that attacks the brain and nervous system, robbing her of the ability to walk, talk, see and feed herself. Doctors liken it to aging backwards.

Ultimately, the disease is fatal and the only known treatment can exceed $4 million.

Khloe’s father, David Garcia, is now worried that his daughter, who just finished kindergarten, will have so few milestones left.

“Every day I have to watch my daughter and I have to find a way to stop this disease,” he told local news station WSMV.

Metachromatic leukodystrophy (MLD) is a genetic disease that causes a deficiency of the ARSA enzyme. This leads to the accumulation of fats called sulfatides. These fats then attack the protective layer around the nerves, called the myelin sheath.

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Over time, this leads to damage to the nervous system and an inability to perform basic tasks.

According to the family’s GoFundMe, Mr. Garcia and Khloe’s teacher began noticing changes in her shortly after her sixth birthday last year.

Suddenly, she had trouble with basic motor skills like walking, jumping, and running.

A few weeks later, her teacher noticed that she would be ‘bent at the waist’ and unable to open her backpack.

Soon after, Khloe was struck by excruciating headaches that brought Mr. Garcia to the hospital.

Khloe was diagnosed with juvenile MLD, which accounts for about 20 to 30 percent of cases. Most patients are diagnosed before the age of three.

“When they first told me it was this, I said it can’t happen to me,” Mr Garcia said.

Children Khloe’s age who are diagnosed with MLD usually show behavior problems and problems concentrating in school.

It’s not clear exactly how many people have MLD, but estimates range from one in 40,000 to one in 160,000 births, according to the National Organization for Rare Disorders.

The condition disproportionately affects the Najavo population, with MLD affecting one in 2,500 and some experts believe that those of Middle Eastern descent have an even higher prevalence.

Dr. Thomas Cassini, a geneticist at Vanderbilt University in Nashville who works with MLD patients, told WSMV, “I really feel for this family or any family that goes through something like this.”

He noted that while the condition is ultimately fatal, children with MLD can live into their 20s or 30s with appropriate — and only federally approved — treatment.

In March, the FDA approved Lenmeldy, the first stem cell treatment for children with MLD.

The treatment consists of a single infusion of the patient’s own blood stem cells, which have been genetically modified to contain functional copies of the ARSA gene.

These cells then multiply in the bone marrow and help the body produce ARSA, slowing the progression of MLD.

However, it is only for children who are diagnosed early and is usually not covered by insurance.

And the wholesale cost is $4.25 million, making it the most expensive drug in the world.

Mr. Garcia, a single father, now travels across the country to visit a select few hospitals that offer this treatment.

“It’s very hard, especially when you live alone,” he said. “You have no one to talk to. [to].’

“You have to do everything yourself.

If the family cannot reach Lenmeldy, doctors will have no choice but to focus only on treating Khloe’s symptoms and not the disease itself.

“That’s my baby,” Mr. Garcia said. ‘I love her so much. I don’t want to think that one day I’m doing to lose her.’

“No, she is everything to me.