Pompe's Disease, GERD, and Milk Protein Allergy

I came to win, to fight, to conquer, to thrive 
I came to win, to survive, to prosper, to rise 
to fly 

I am finally ready to blog about our appointments on Monday...they took a lot out of us and I haven't really wanted to talk about it with anyone. But here I am-- ready to move on, blog about it, and choose to have a positive attitude.

Dr. Barlow
Monday morning we went to Dr. Barlow's new office which is MUCH closer to our home and we like the office MUCH better. Every cardiologist appointment begins with a quick EKG by one of the nurses. Then we go to the ultrasound room where Dr. Barlow completes an echo-cardiogram on Kaleb. This wasn't really a problem the first month because Kaleb was sleeping all of the time, but this time around Kaleb has been crying literally for almost an entire week straight and very rarely sleeps. He did pretty well during the test until the end but was mostly able to be calmed down by his pacifier. Dr. Barlow asked us if any doctors had suspected Kaleb having something called Pompe disease. We said no and asked about it. He said that Kaleb's EKG showed a short PR interval (one of the electrical currents in his heart) which is a sign of Pompe's disease. He then explained that Kaleb had other signs of the disease and wanted our geneticist to test him for it. He told us that the disease causes the heart to grow thicker and thicker and the only way to fix it is a heart transplant. Dr. Barlow did not tell us much else about it and repeatedly reminded us that he is not saying Kaleb has it but just to check it. I didn't understand Dr. Barlow's hesitance to talk much about the disease until we went home and read about it-- infantile onset normally results in most babies not living to see their first birthday-- GASP. Not to mention it doesn't only affect the heart muscle, but the rest of the muscles in the body as well. We thought we were past the possible fatal disorders and diseases. Dr. Barlow said he would call our geneticist to talk to her about his concerns and make sure she gets the testing ordered when we meet with her next week. Other heart issues-- All babies are born with a PDA, which is an extra valve in the heart which closes up a few days after birth. Kaleb's never did. During the echo the doctor said that he couldn't see the PDA anymore (finally! success!) but then he moved the wand basically to Kaleb's throat and of course it was still there. We have to go back when Kaleb turns 2 months old and if it is still there at that point Kaleb will need surgery to close it, FAIL! Also, Kaleb still has his ASD, which is a hole in his heart. This is the least of everyone's worries, if it isn't closed up by the time he is 4 or 5 years old he will need surgery to close it but most of the time these holes close themselves up. Oh and on top of all of that Kaleb is missing his Right Superior Vena Cava (SVC). Apparently this is a major part of our hearts, while he was in the NICU the cardiologists noted that he did not have this SVC but during our first appointment with Dr. Barlow he thought he saw a very small one. Well this time around, there wasn't one. It looks like Kaleb's heart has completely re-worked itself without the right SVC being there. At this point everything is working like it should by using the left SVC to pump blood, I'm sure this will be a bigger issue later on but right now not a huge concern.

Monday evening I was pretty upset, I know at this point not to worry so much over possibilities and unknowns but it's really hard for any parent to do. The thought of losing your child is unexplainable and most parents never have to know what that feels like, but we do. Tuesday morning Dr. Barlow called me and told me he had been doing some research since he saw us yesterday and found some research that links children that have a short PR interval with a missing right SVC. Therefore, the short PR interval may not be linked to possible Pompe's disease in Kaleb. However, he was only able to find this in two children...which in the world of rare disorders and diseases is actually a lot. He still wants Kaleb tested because if we don't and Kaleb does have Pompe's disease then there is basically not going to be anything anyone can do to fix it. So hopefully Kaleb's missing right SVC is causing his short PR interval and NOT Pompe's (damn you Pompe).

I must say, I have so much respect for Dr. Barlow. He listens, asks questions about all of Kaleb's conditions, funny at appropriate times, down to earth, and comforting. He's already called our Geneticist and is just waiting for her to call him back.

Dr. Peppy
This obviously isn't a doctor for Kaleb but I just wanted to post this here so I can remember in many years what an amazing man Dr. Peppy is. Dennis and I are so thankful for having found him, he truly was a rock through my entire pregnancy and was always there for us. He always gives me hugs, holds my hand, and on Monday actually said "love ya" to me and called me a friend. His nurses are amazing as well and know us by our first names. This was my last OB appointment so I won't see Dr. Peppy until my annual this year, which I look forward to because these people are amazing. He has been the only professional who hasn't made me feel nuts for not being able to breastfeed or even pump as much as I could. He knows the stress I am under and when I asked him about me possibly having post partum depression he told me absolutely no way and it is due to all of the things we are going through right now. He made me feel completely not crazy. I've been pumping milk for Kaleb but have always struggled with low supply (even with Nolan) so when I told him Kaleb only gets about 4oz of milk a day from me, Dr. Peppy told me I could stop doing that because that is just causing more stress and depression. It was almost like I needed someones permission to stop. It was amazing the crap I would put myself through just for a mere 4 oz a day, I have been much happier since I stopped pumping. I have more time for other, more important things now!

Dr. Marcus
Monday afternoon we took Kaleb for his one month well-child check up. Kaleb had just been in the office to see Dr. Marcus 9 days prior to this appointment when the doctor told us to take Kaleb to the ER due to projectile vomiting. Apparently during those 9 days Kaleb ONLY gained a damn ounce. Dr. Marcus was worried about this but believes it has been caused by GERD (reflux) and Kaleb having a milk protein allergy. The doctor checked for a poopy diaper to check it for blood (that you can't see) and we remembered we had one in the car from Kaleb pooping right before the visit (yeah, being a parent is gross at times okay? shoot me!) so Dennis ran and got the damn poop and what do you know, the test showed a large amount of blood in the poop (THAT YOU CANT SEE...I wasn't just letting my child bleed okay?). His poor intestines are being attacked-- milk protein allergy. Not to mention the terrible rash over his entire body, poor thing. Kaleb was put on a new formula (which is basically double the price of normal formula, Alimentum) and was given 9 days to put on weight. If Kaleb has not put on an adequate amount of weight when we go back in 9 days then he will have to go to the hospital and have a G tube (feeding tube) put in so that he can gain weight. Once we got home and started the new formula it was a HUGE difference, and at some feedings Kaleb didn't even spit up at all (he is also on reflux medication now) and the rash was already looking better, oh and that damn colic that was making us do crazy things (like putting him in the stroller and walking up and down the street at 1am and when that didn't work rolling the stroller back and forth over our brick laid driveway to see if the bumps helped him stop crying...it didn't) is FINALLY better. We are all sleeping a little better and not ready to pull our hair out, thank goodness. Things were going well then he started spitting up again and the rash is back. He isn't spitting up AS MUCH, but still enough that it is sometimes concerning if he just spit up all of his food that he just had. He has also gradually been more and more fussy again. Dennis tried to weigh Kaleb last night on our baby scale at home last night but Kaleb wouldn't hold still, it looked as though he may have gained a few ounces already so I'm hopeful still! On top of everything else Dr. Marcus gave us a prescription for physical therapy already for Kaleb and diagnosed him with Torticolis (the muscles in his next are shorter on one side so they pull his head to that side which makes it hard for him to hold his head any other way but to the side). Apparently this is emergency physical therapy so we will be getting in soon with Arnold Palmer hospital for that to start soon. Also, we got a referral to a neurosurgeon for Kaleb due to an abnormally shaped skull, I'm telling ya...the doctors just keep piling up. A neurosurgeon....REALLY? Anything for my little man though...his poor skull!

And then the next day we had to go back to Dr. Marcus for Nolan's 18 month check up...we've really got to coordinate appointments better! Nolan is fine and perfectly healthy and right on track for development. She wants him to have another hearing test due to him having some speech limits, but that's it! So nice to have an "easy" appointment for once!!!

In between all of the appointments on Monday, Dennis and I had lunch at Lime, I absolutely love them! Not to mention it basically the only "Mexican" food around here AND they have an amazingly strong frozen wine margarita which comes in a HUGE cup...that really helped to take my mind off the junk that we found out at Dr. Barlow's office. ;) Thank you Lime!!

Hello? Kaleb? Are you there? (This is the way his head always turns, due to the Torticolis)

Me, Kaleb, and the most AMAZING OB ever...Dr. Peppy. 

6 thoughts:


I wish I was there to give you a GIGANTIC hug and let you know that you both are doing such an amazing job. Truly inspiring. LOVE YOU ALL!!!


So, I just wanted to let you know I read up on everything that I wasn't previously updated on from when we last talked. I know that it's tough right now but it will get better. You and Dennis are wonderful parents and have so much to give. It takes special people to be able to care and do what you are doing. I love all 4 of you and I am here for anything you need. I also want you to know that we are in the process of doing Jump Rope for Heart which raises money for the Heart Association and I have been constantly thinking about you and sharing some of your story with my students to let them know how close to home some of these conditions hit and how donating to JRFH that they can help people like Kaleb. I will definitely put a heart on our wall for Kaleb to honor him in his battle! <3 Good luck to all of you and lots of hugs and kisses to your two little guys!


Some of the info that you've been given isn't quite right. If it turns out that your baby has Pompe, there is a treatment. Pompe is a disease caused by a poorly performing enzyme. The treatment replaces that enzyme. I know this for sure because I have Pompe and am being treated. It's a very rare disease, so chances are that this isn't it. If it is, you definitely want to know so that treatment can start early. All the best.


Thanks Ashley and Kelly :)

Kell- that's great that you talk to the students about this stuff and let me know if you get that heart up...i'd love to see it!

Brad- I was wondering how old you were when you were diagnosed with Pompe? From my research it appears that infantile onset and adults who have Pompe is very different as adults don't normally have the heart conditions that an infant has. From what I've read Pompe is life threatening in infants and better treated in adults. My son has a very rare chromosome disorder which includes other rare defects and disorders so that is somewhat normal around here.


Life seldom seems to work out the way we plan. I hope your son does well.

I have adult-onset Pompe disease. I'm 49 and was diagnosed 5 years ago. My health took a dive a few years ago and, had I not started treatment about a year ago, I'd be in tough shape now.

You are right that the disease presents itself differently in infants and adults. Even within adults, the progression varies widely. I understand that there are about 150 genetic mutations that can cause it so the variability isn't surprising. Adults don't tent to have the same organ involvement that infants do but many of the other symptoms are similar.

The treatment for infants and adults is the same. It's an infusion based on body weight, so babies get a lot less of course. There is a lot of research going on in this area.

It's a progressive disease so that's why I said it's important to find out for sure, since it has been suggested. There are good tests now and you should be able to get results back in a couple weeks I bet. Your geneticist would be the person. There's a very good doctor at the University of Florida if you need to get referred.

It's rare though so hopefully this isn't it. I've met many Pompe people on Facebook, patients and families, so if the test is positive, find me on FB and I'll hook you up with other families. It's a very supportive community.


Brad-- What treatment do you have to do? Is the Pompe's affecting your heart? From what I understand this disease affects all major muscles. Is that correct? Is it a simple blood test to test for Pompes? We meet with our geneticist next Friday to see how we can go about getting the test. Do you mind emailing me your information so I can find you on FB if the test is positive? My email is dontmesswithtexas21@yahoo.com.

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