Monitoring is also essential. If a pediatrician put somebody on therapy for any disease they should ask them how they’re doing and see if their therapy is hitting the mark. If they treat otitis media they go back and they look in the ear. For Fabry Disease, they have to monitor and make sure they’re hitting the target.
How do they do that? The needs change with time. Follow up evaluations for people on or off treatment should include renal assessments, current standards for that include calculated GFR, which is the filtration rate of the kidneys, a measurement of creatinine, quantitative measurement of urine protein and urine albumin. That should be accompanied with a urine creatinine measurement so that they can calculate a albumin: creatinine ratio which is the most sensitive way of assessing kidney health that we have at the moment. Heart evaluations should be done in the pediatric age range, because of the low frequency of significant heart disease yearly assessments are not done, more likely every three to five years. And, for assessments of the brain function, doing MRI scans to look for the white spots on the brain are controversial, there are people who recommend that but there are also no clear decisions that will be based on that information.
For pain, using a validated pain scale if possible is recommended, primarily the BPI or there are a number of other pain scales. Pediatricians should always ask their patients about GI symptoms, and if they say yes they have them, get the details so you can tell if the symptoms are stable, getting worse or getting better. Again, use of a validated scale is preferred, together with quality of life scales to monitor patients, with this approach pediatricians can generally improve the outcomes for the patients, although again we do not have a cure for Fabry Disease at this time.