Six-year-old girl ages backwards due to rare disease

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

Now, at age six, she now relies on a walker and thick glasses to get around and see. Her teachers think it will only be a year before she can no longer walk at all.

Khloe, of Nashville, was diagnosed last year with metachromatic leukodystrophy, a rare genetic condition that attacks the brain and nervous system, taking away her 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 cost more than $4 million.

Khloe’s father David Garcia now fears that his daughter, who just graduated from kindergarten, will have so few milestones left.

“Every day I have to watch my daughter and 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 enzyme ARSA. This leads to a build-up of fats called sulfatides. These fats then attack the protective layer around the nerves, the myelin sheath.

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

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

She suddenly had problems with basic motor skills such as walking, jumping and running.

Weeks later, her teacher noticed that she was “bent over” and could not open her backpack.

Soon after, Khloe suffered a painful headache, prompting Mr. Garcia to take her to the hospital.

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

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

Children Khloe’s age who are diagnosed with MLD typically exhibit behavior problems and difficulty concentrating at school.

It’s unclear 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 people. Some experts believe that the prevalence is even higher among people of Middle Eastern descent.

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 well into their 20s and 30s with the right — 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 one-time 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 intended for children who are diagnosed early, and is generally not covered by insurance.

Wholesale costs total $4.25 million, making it the most expensive drug in the world.

Mr. Garcia, a single father, now travels around the country visiting the few hospitals that offer this treatment.

“It’s very difficult, 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 gain access to Lenmeldy, doctors will have no choice but to focus solely on treating Khloe’s symptoms rather than the disease itself.

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

“No, she means everything to me.”