What a Typical Pompe Clinic Day Looks Like
It was nerve-wracking for my son, Cayden, to be the first child in Pennsylvania diagnosed with infantile-onset Pompe disease via newborn screening. It was four years ago, but I still remember it like it was yesterday.
Back then, Cayden’s visits felt very unorganized. However, our team of doctors has since created Pompe clinic days to ensure our visits run smoothly.
These Pompe clinic days are held on the third Thursday of each month. This helps with scheduling because I know exactly what day Cayden will have his checkups every three months.
The visits start off pretty typically. Nurses check his weight, height, and vital signs, such as his heart rate and blood pressure. Then, they take us to a room where we wait for Cayden to be seen by his metabolic specialist. After a quick review of Cayden’s chart, the doctor comes in and examines him.
After the examination, we briefly discuss Cayden’s weekly Lumizyme (alglucosidase alfa) infusions. Usually we don’t need to make any changes. However, if he’s gained weight, then the doctor has to increase the dosage. Lumizyme is a weight-based medication, meaning each patient’s dosage depends on their own body weight.
Once the doctor has completed his examination and reviewed the Lumizyme infusions, we move on to a quick session with a physical therapist. Cayden sees the same therapist each time, which is beneficial because she knows him well and can recall how his body worked during the last session.
The therapist has a list of different exercises for Cayden to try. She tracks his development by seeing if he has improved or regressed in any areas since our last visit. These physical therapy sessions give Cayden’s doctor an idea of how well the Lumizyme infusions are helping to slow down muscular damage.
Lastly, we have to go down to the lab for a quick blood draw. Cayden must complete a few different labs so we can see what’s going on inside his body. Doctors always check his liver labs, because elevated liver enzymes are a common issue for people affected by Pompe disease.
Liver labs check levels of enzymes such as creatine kinase, aspartate aminotransferase, alanine transaminase, and lactate dehydrogenase. If your liver becomes damaged, it will release these enzymes into your bloodstream at high levels.
Cayden also completes a Hex4 urine test at each visit, which helps monitor patients with Pompe disease who are receiving enzyme replacement therapy.
Although these visits typically make for a long day, I am thankful that they have become more organized over the years. It helps to have an idea of what our Pompe clinic days will look like, and I appreciate all the hard work doctors and staff put into these days.
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