Children with MPS often suffer from cardiac manifestations of the disease. The GAG builds up in the heart itself and the valves, causing leakage or “regurgitation” and may enlarge the heart as well.
When he was diagnosed, Case suffered from pulmonary hypertension and mild to moderate aortic and mitral valve regurgitation. His weekly infusions of Elaprase have appeared to resolve the pulmonary hypertension completely; however, the regurgitation is a little more tricky. These functions of the heart are measured in a test called an echocardiogram, or a heart ultrasound. Every 6 months, Case visits his cardiologist and undergoes an echocardiogram (echo) as well as an EKG.
We are still incredibly hopeful that the intrathecal trial will improve Case’s heart as it appears to have done for another trial participant. But until then, we continue with cardiology visits every 6 months.
Prior to the clinical trial, it was quite difficult to keep Case still for the testing especially since the echo lasts around 20 minutes and they are expected to lie on an exam table and be still. We would watch Barney and sing songs, but Case was so incredibly fidgety and hyper, that he was still moving … a lot. That also made it hard to know how reliable the results are if the child is moving around during the scan.
But… after several months in the clinical trial, Case was able to lie still for the entire echo, watching Barney and smiling. I even got to sit back and take a video of his cardiology visit. Enjoy.