Gaining 51 pounds in three years may not seem like a lot, but for Amber Mickley it meant doubling in size.
When she was nine years old, Amber was small for her age–just 50 pounds. Her arms and legs were constantly in pain and her stomach seemed swollen. Trip after trip to doctors’ offices revealed little. Some thought she might be suffering from leukemia. Others said cystic fibrosis. One suggested that the pain in her limbs was normal for someone her age, citing “growing pains.” But clearly Amber wasn’t growing.
Betty Mickley, Amber’s mom, had enough. So, when the medical professionals let her down, she did what most of us would do and turned to Dr. Google. Amber’s symptoms kept steering her in the same direction, towards something called Gaucher disease.
Armed with that name and her maternal instincts, Betty told Amber’s doctor what the diagnosis was. Sure enough, a liver biopsy confirmed it was Gaucher.
In the case of Gaucher disease, patients are missing something called glucocerebrosidase–an enzyme that helps break down some of the waste within our cells. Without it, Amber and others living with Gaucher disease experience damaged/brittle bones and enlarged organs, such as the liver and spleen. Fortunately, treatment’s available in the form of an IV infusion.
Following her diagnosis, Amber has received her infusions twice a month. At first, her family had to commute more than three hours to a major hospital for the procedure. Several months of monitoring showed that Amber was responding well to treatment, and now she’s able to get her infusions at home, under the care of a visiting nurse.
Today, 12-year-old Amber weighs 101 pounds. She’ll have to continue treatment for the rest of her life, but so far she doesn’t seem to mind. In fact, Amber’s happy to be feeling better… and to put her added weight to good use on softball fields and tennis courts.
