Katie Sampson and her husband were thrilled with their only child, as he began to walk and do all the other things little boys do as they approach their second birthday.
And then, somewhere around that two-year mark, it all changed.
“We did test after test, scan after scan – they thought maybe he had cancer, blood work, endless blood work and, they just – we saw endless doctors and they didn’t have any answers,” says Katie.
She began to research Jackson’s condition herself, but, “To find not a whole lot of information, you’re like, ‘OK, what do I do, now?’” she says.
“We see a lot of patients with devastating diseases, like this,” says Jackson’s current physician, Dr. Monica Lemmon, of Duke Medical Center.
Jackson has a condition called infantile neuronal axonal dystrophy, usually shortened to the acronym INAD, in which the body can’t make an enzyme that helps break down unneeded fats in the brain.
“And, as a result axons, which are part of nerves, become swollen,” says Dr. Lemmon. “And when that happens, the signals that should go from the brain to the muscles or the brain to eyes don’t work properly.”
As a result, says Dr. Lemmon, “Over the course of his life, we’ve already seen Jackson lose skills and, unfortunately, we expect that to continue.”
“You just have to remain optimistic and just pray and hope that they will find a cure,” says Katie. “You just have to take those moments in and cherish them.”
INAD is a rare disease that, when you see how many people have some form of rare disease, isn’t as rare as you might think.
See more of Jackson’s story and the plight of people with rare diseases, in this edition of the Buckley Report.