Just a few months ago, Khloe Garcia was running, jumping, and playing like any other kindergartner.
Now, at six years old, he relies on a walker and thick glasses to move and see. Her teachers believe it will only be another year before she can no longer walk at all.
Khloe, from Nashville, was diagnosed last year with metachromatic leucodystrophy, 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 ageing in reverse.
Ultimately, the disease is fatal and the only known treatment can cost more than $4 million.
Khloé’s father, David Garcia, now fears that his daughter, who just graduated kindergarten, will have too few milestones left.
Khloe Garcia, 6, was diagnosed with metachromatic leukodystrophy (MLD), a rare genetic disease that will leave her unable to walk, talk or feed herself.
Khloe’s father, David Garcia, and her teachers noticed that last year she began having trouble walking and jumping. Within weeks, she could barely close her backpack.
“Every day I have to take care of my daughter and I have to find a way to stop this disease,” she told the local news station. WSMV.
Metachromatic leukodystrophy (MLD) is a genetic disease that causes a deficiency of the enzyme ARSA. This leads to a buildup of fats called sulfatides. These fats then attack the protective layer surrounding the nerves, called the myelin sheath.
Over time, this causes damage to the nervous system and an inability to perform basic tasks.
According to the family GoFundMeMr. Garcia and Khloe’s teacher began noticing changes shortly after her sixth birthday last year.
He suddenly had trouble with basic motor skills like walking, jumping and running.
Weeks later, her teacher noticed she was “hunched over at the waist” and couldn’t open her backpack.
Shortly after, Khloé suffered agonizing headaches, prompting Garcia to take her to the hospital.
Khloe was diagnosed with juvenile MLD, which accounts for 20 to 30 percent of cases. Most patients are diagnosed before the age of three.
“The first time they told me this was the case, I said it couldn’t possibly happen to me,” Garcia said.
MLD affects between one in every 40,000 and one in every 120,000 births. Most patients are diagnosed before the age of three.
MLD is fatal, although Garcia is trying to get Khloé access to a new stem cell therapy that could extend her life into her 20s or 30s.
Typically, children Khloe’s age who are diagnosed with MLD display behavioral problems and trouble 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 people of Middle Eastern descent have an even higher prevalence.
Dr. Thomas Cassini, a geneticist at Vanderbilt University in Nashville who works with patients with MLD, told WSMV, “I’m really sorry for this family or any family that’s going through something like this.”
He noted that while the condition is ultimately fatal, children with MLD can live into their 20s or 30s with proper (and only federally approved) treatment.
Mr. Garcia, a single father, Mr. Garcia, a single father, now travels around the country to visit the few select hospitals that offer Lenmeldy. The treatment is often not covered by insurance and costs more than $4 million, making it the most expensive drug in the world.
“That’s my baby,” Mr. Garcia said. “I love her so much. I don’t want to think one day what I’m doing to lose her. No, she’s everything to me.”
In March, the FDA approved Lenmeldy, the first stem cell treatment for children with MLD.
The treatment involves 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 designed for children who are diagnosed early and is usually not covered by insurance.
And the wholesale cost amounts to $4.25 million, making it the most expensive drug in the world.
Mr. Garcia, a single father, now travels around the country to visit the few select hospitals that offer this treatment.
“It’s very difficult, especially when you live alone,” he said. “You don’t have anyone to talk to.”
“You have to do everything on your own.”
If the family can’t access Lenmeldy, doctors will have no choice but to focus solely on treating Khloe’s symptoms rather than the illness itself.
“She’s my baby,” Garcia said. “I love her so much. I don’t want to think that I’m going to lose her one day.”
-No, she is everything to me.
