Damian Markham, the Newhall toddler diagnosed with a rare deadly disease, has received his first experimental treatment, becoming one of the first in history to have undergone the medical process after the FDA specifically approved the treatment for him.
The youngest Markham was diagnosed last year with Niemann Pick Disease, which requires such a specific set of genes from both parents that only five to 10 cases are active in the United States at any given time. Also known as acid sphingomyelinase, or ASMD, the disease has been described as “baby Alzheimer’s” and could prove fatal by his fifth birthday.
However, Damian’s mother, Brittany Markham, said her 2-year-old son had received his first doses — in two separate administrations on Friday and then Monday — in a study that aims to develop a treatment effective at keeping the degeneration of his body at bay.
“We were feeling pretty beaten down for the past couple past months, and just really trying to get this this first treatment approved by the FDA,” Markham told The Signal on Monday. “And I kind of made a final ditch effort at trying to reach out to the FDA, which I did. And then finally we got the approval.”
After that call happened last week, Markham said she immediately got on the phone with her son’s doctor to get the process rolling along as soon as possible.
“It actually doesn’t have a name,” said Markham, referring to the drug — a powder-like substance given to him in a spoonful of yogurt — that Damian received as part of the first treatment. “It’s got an identification number from the pharmaceutical company… but it’s an approved treatment just for Damian.”
“It’s a single-patient, emergency access to this drug,” Markham added.
According to Markham, the treatment has been successful in animal trials — and previously tested in small doses in another boy who was a further along in the progression of the disease than Damian — in reducing buildup in the brain that causes the kind of developmental issues associated with ASMD.
“We’re hoping that the ultimate result is that his brain can kind of heal a little bit from all of the destructive substances building up in there,” said Markham. “We’re not sure when we’ll start seeing some changes, if we will see changes; we don’t know if this treatment is going to just pause him where he’s at or actually be able to reverse the damage that has been done.”
One of the first signs, Markham said, that the treatment is effective would be seeing the stoppage of Damian’s muscle tone weakening, in the hope that he will, with time, be able to rehabilitate that muscle density.
Markham added that her son and their family are not out of the woods yet, even if the treatment is successful, adding that the 2-year-old will also likely need to be enrolled in a second study that still remains in the developmental phase.
That treatment is a form of gene replacement therapy that is expected to be available in a few years — but this timeline, Markham said, could be shortened dramatically with an extra $3 million in funding.
The family continues to raise funds to reach this goal, according to Markham, and recently GoFundMe officials announced that the page had almost generated $800,000 in donations. Those wishing to donate may visit the GoFundMe page at gofundme.com/f/please-save-damian.
The family will also be holding a garage sale (open to the whole community) to take place on May 14. The location of the garage sale has not yet been solidified, but an invitation will be distributed at a future date via Facebook at facebook.com/PleaseSaveDamian or by contacting [email protected].
