Just a few months ago, Khloe Garcia was running, jumping and playing just like any other toddler.
Now, at age six, she relies on a walker and thick glasses to move and see. Her teachers think it will only take a year before she can no longer walk at all.
Khloe, of Nashville, was diagnosed last year with metachromatic leukodystrophy, a rare genetic disorder that affects the brain and nervous system and takes away her ability to walk, talk, see and feed herself. Doctors compare 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.
Khloe Garcia, 6, was diagnosed with Metachromatic Leukodystrophy (MLD), a rare genetic disease that leaves her unable to walk, talk or feed herself
Khloe’s father, David Garcia, and her teachers noticed last year that she was having trouble walking and jumping. Within weeks, she could barely close her backpack
“Every day I have to watch my daughter and find a way to stop this disease,” he 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 build-up of fats called sulfatides. These fats then attack the protective layer around the nerves, the myelin sheath.
Over time, this leads to damage to the nervous system and the inability to perform basic tasks.
According to the family GaFundMeMr. Garcia and Khloe’s teacher started noticing changes just 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.
Shortly afterward, Khloé suffered from a severe 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 the age of three.
“When they first told me this was it, I said it couldn’t happen to me,” Garcia said.
MLD affects anywhere from one in 40,000 to one in 120,000 births. Most patients are diagnosed before the age of three
MLD is deadly, though Garcia is trying to get Khloe access to a new stem cell therapy that could extend her life into her 20s or 30s
Children Khloe’s age who are diagnosed with MLD typically exhibit behavioral problems and difficulty concentrating in 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 going through something like this.”
He noted that the condition is ultimately fatal, but that with proper — and only government-approved — treatment, children with MLD can live into their 20s or 30s.
Mr. Garcia, a single father Mr. Garcia, a single father, now travels around the country visiting the select few 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 that I want to lose her. No, she is everything to me
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. These are genetically modified and 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.
And the wholesale cost totals $4.25 million, making it the most expensive drug in the world.
Mr. Garcia, a single father, now travels around the country visiting selected hospitals that offer this treatment.
“It’s very difficult, especially when you live alone,” he said. “You have no one to talk to.”
‘You have to do everything yourself.’
If the family is unable to access 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 one day that I’m planning on losing her.’
“No, she means everything to me.”