Mark Tarnopolsky, MD, explains how Pompe disease doctors test whether a care plan is effective enough to continue.
Transcript
Generally, the care plan. We want to make sure that there’s maintenance of function, and that usually is things like climbing stairs, getting out of a chair, and also patients often end up with respiratory issues.
And the BiPAP, which is a support device that you use to push air in essentially at night. Why that’s important — is that when the diaphragm is weak and you lie down, you rely on the diaphragm. And so most of our patients, lying down, that becomes an issue.
So we can tell by the amount of pressure that we need with the BiPAP, the number of hours that they need with the BiPAP. And also for most patients, can they get out of a chair still? Can they still go up and down stairs?
So if they’re starting to have more problems — in either strength function of the muscle and/or respiratory issues, then we say, look, there’s something going on. Either there’s something new happening to that person or they’re not responding to therapy and their disease is progressing.
From a monitoring perspective, unfortunately, many clinics rely on what’s called the MRC grade, where you just check someone’s strength. The problem is, that’s not very functional.
Most patients complain of can’t get out of a chair, can’t go up a flight of stairs. And if we think even about aging, those are the biggest determinants of someone’s disability and the need for assistive devices and for personal support workers, and those are not well captured.
So we are definitely advocating for, in our clinic, we test what’s called a five-time sit-to-stand and going up a flight of stairs. Easy to implement in a clinic. And those functional tasks are rarely captured by most clinics.
