Hello There,

My name is Mackenzie Tinker and I’m trying to advocate for my son who has been diagnosed with LOPD (Late-onset Pompe Disease). This disease fortunately has treatment that will delay his symptoms, but researchers at Duke University are working towards finding a cure.

My son’s name is Storme Sharp and four days after his birth, his newborn screening came back requesting that we come in for some additional testing because his blood work was showing indications of Pompe disease – a disease I had never heard of and would later learn that Storme’s local doctors had never heard of as well.

Pompe disease is a rare and progressive genetic disorder, which results from the abnormal buildup of a sugar molecule called glycogen within the cells of various tissues, especially muscles. Symptoms of excess glycogen are varied and can include muscle weakness, difficulty walking, pain, motor difficulties, poor reflexes, spine curvature, and heart muscle damage, among others. There are two types of Pompe Disease – IOPD (Infantile-onset Pompe Disease) and LOPD earlier described.

Unfortunately, all I can do for my son now is wait – wait for his doctors’ appointments, wait for his symptoms. Once symptoms present, a port will need to be placed in his chest and he will receive weekly ERT (Enzyme replacement therapy) infusions for the rest of his life OR UNTIL A CURE IS FOUND!

UPDATE:

Storme received his port and first infusion on September 10 and has been doing great on the medication. Given he was the only child/person to receive this medication in the state up until last week, we are still learning this new normal of medicine and how to make our lives work around Storme's infusions. His infusion lasts about 6 hours and happens twice a month. The medication costs $20,000 per infusion. Thankfully, our insurance currently covers that cost but I worry for other families possibly being burdened with medical costs while they should be focusing on their health, which is just another reason that I love to fundraise for Pompe Disease Research.