It has been a while since we have posted here, but no news is good news right!? Since our last update chase we have been able to breathe a high sign of relief after the one year appointment that we were out of the woods of Infantile-Onset! When we aren't dreading upcoming appointments it can be easy to forget he even has Pompe Disease, but it was a relief to hear we could start twice a year visits instead of four times a year (really was like 15 in the first year). Physical therapy assessments show he is right on track for motor skills and for the first time since he was born - we saw his liver enzymes trend down and CPK Levels were in the normal range! We all did a happy dance 🩵💚

Thursday we saw genetics for Chase's 18 month appointment & labs. He loves to socialize and in a place where everything is geared towards kids and kid size, Children's was quite the adventure for him! Dr. Fabie was quite impressed with how well he is growing and developing, she even mentioned maybe less frequent visits if all goes well. The next step in our journey now that he is getting older is for a speech evaluation to see where he's at. Since the tongue is a muscle, it is not uncommon for pompe kiddos to experience some speech difficulty. We did hear him say "thank you" to Dr. Fabie was which was a first! 

Labs are our least favorite part but it was a blood spot during his 24 hour newborn screening that told us he had pompe, and each round of labs continues to provide valuable insight into what his little body is doing and a big part of determining when to start Enzyme Replacement Therapy. His elevated AST liver enzymes were a mystery during the first year and most of his lab values were trending upwards slowly. Last fall it was determined he had low ferritin (your body's stored iron) levels so we started a supplement and started focusing heavily on how to pack iron into his diet. The dietician we met with went over Duke's pompe dietary recommendations and gave us tips on iron absorption - vitamin C is key.

Between adding the iron supplement and transitioning from just milk to a healthy balanced diet, his lab values continue to trend down! The various biomarkers they doctors look at are indicators of muscle breakdown and essentially "onset" of pompe. We focus on a high protein diet, healthy fat, low carb diet - and steer clear of sugar as much as possible, especially "added sugar" because our bodies make glycogen when our blood sugar is above 100. By limiting sugar and carb intake the hope is for his body to make less glycogen because he does not make enough of the GAA enzyme to break it down, accumulating in the cells and causing weakness. Studies are in the works regarding diet, especially for infantile onset pompe patients because they have no enzyme activity - where late onset usually has some enzyme activity but less than a healthy person without pompe. His ferritin level has increased to 35 - up from 5 in September. His iron levels were within "normal range" at 26 & 77 last summer because our body is smart enough to steal from our stored ferritin to maintain the iron in the blood, but his iron has increased to 103 and iron saturation is up to 35% from 8% last July. We are going to make the switch from a regular iron supplement to a multivitamin with iron to maintain his levels now that he is where he needs to be.

Chasey Boy weighed in at a 28lbs 10oz (95th percentile) and is 32 inches tall (43rd percentile) with a big melon and overall BMI in the 99th percentile! 💪🏻 CPK levels which are a big flag for muscle breakdown  came in at 195 - down from 360 at his very first appointment at 2 weeks old, and 325 a year ago. ALT liver enzymes is down to 43 - down from 64 a year ago, and AST liver enzymes are down to 49 from 92 last June!! LDH is another marker that can indicate tissue damage and is also trending down in line with the others, down to 349 from 505 last September. While some of these values are flagged as "high" compared to the lab ranges, we already know he has Pompe so we are monitoring to make sure they don't suddenly spike and stay elevated. Every appointment seems to add a little reassurance that he is going to be late onset and continue to live a healthy, normal childhood - despite a few small pompe things like getting easily tired out and tripping/falling more easily. 

We are still meeting with Help Me Grow at our house once a month to check in on milestones and PT monitors for any changes indicating muscle weakness in the legs and core.

To say we are grateful for all the friends, family, and strangers that have supported us on this journey would be an understatement. 2022 was quite a rollercoaster year and we are happy to put it behind us! 💚🩵