Case was only 4 hours old when he first went on a ventilator. His young life was peppered by minor symptoms that sent him to one specialist after another. A swallow study, a head ultrasound, adenoids removed, pectus excavatum, laryngomalacia, uncontrollable diarrhea, and falling.
It wasn’t until his Grandma, a registered nurse, happened to watch an episode of Mystery Diagnosis, that the unconnected symptoms were finally pieced together. The episode featured a boy who was quite similar to Case in many symptoms, including slowing development. Case was diagnosed with Mucopolysaccharidosis II or Hunter Syndrome at the age of two.
The genetic disease is a lysosomal storage disorder, which means that the cells of his body are missing an enzyme to recycle certain cellular waste called GAGs. So the GAGs just keep building up in all of his cells, focusing on his heart valves, liver, spleen, joints, airway, and his brain. In most of its sufferers, it causes the brain to slowly decline and impair the body so much that the average life span is 12-15 years old.
Case is one of the lucky ones. Unlike many rare diseases, his has a treatment. Not a cure, but at least a treatment. He was diagnosed young and was able to start receiving infusions of his missing enzyme for 4-5 hours every week. It has helped him run again without falling, shrunk his liver and spleen, improved his airway, and maintained his heart conditions.
But Case would be even luckier than that. In 2010, he was able to enter a clinical trial that infuses the missing enzyme into his brain. As a result, he has actually improved cognitively and we are hoping that this will add many long years to his life and our enjoyment of him. We started a blog (www.savingcase.com) and we tweet (@savingcase) to chronicle his journey in the clinical trial process as well as to gather helpful information for other rare disease families.
We long to see treatments like this approved more quickly for our friends’ children and the families of others suffering from the many rare diseases without treatment.