The Pompe Warrior Foundation Story

Our house caught on fire on June 14th, 2016, at 12:30 AM. Anne, my wife, woke me up and said: “I think I hear something, go check it out.” I grumbled sleepily but agreed to go check it out. I walked through the living room into our kitchen looked out the window and saw a huge blaze. Our garage was on fire. I ran back into the living room, yelled at Anne, and grabbed the boys. We made it to the driveway just in time to watch the fire jump from the garage to the house. The next few days are a blur. After a month of staying in hotels, our insurance company found us a suitable apartment. This was a hectic time. There were five different companies that came into our house and took different things to see what could be salvaged and what couldn’t be. We had to coordinate with these companies, our insurance company, and the banks for the next seven months. The saving grace in all of this was our family and friends.

When we finally got into our temporary apartment we started to notice some things about Leo. He didn’t want to turn his head to the left and every once in a while he would sweat through his pajamas at night. We talked to the doctors about our concerns. He was diagnosed with Torticollis (a condition that makes it difficult to turn your head or neck to one side). This was not a big deal and treatment involved taking him to physical therapy to stretch his neck muscles. To address the night sweats the doctors suggested that we shouldn’t dress him so warm at night. After 4 weeks we started noticing some more changes. He started spitting up after feedings. The Torticollis and sweating weren’t getting better either. We talked to the doctors again and things were explained away. We believed them because no one wants to think there might be something wrong with their child. Leo’s symptoms continued to get worse over the next 2 weeks. He couldn’t keep any food down and his muscles seemed weaker than ever. We went to the doctor again. This time things weren’t explained away. They sent us to get blood tests and told us to make a neurology appointment. This is when Anne took over. She called every neurologist in Minnesota and we couldn’t get in to see one for at least a month. Unacceptable to Anne she bullied her way in to see a neurology physician’s assistant. We left that appointment with immediate admission to Gillette Children’s Hospital. We had no idea things were so bad. The genetics team there met us as we entered the hospital. They took blood and sent it out right away. A pediatrician that was rounding came in to look at Leo. He ordered an echocardiogram of his heart. He did not like what he saw. Leo’s heart was basically the size of his chest cavity and the heart muscle was thick. Gillette was not equipped to handle such a delicate heart so they transferred us to Children’s Hospital in Minneapolis. There the first question the rounding doctor asked us was, “Have you ever noticed that your son sweats?” The doctor went on to explain that Leo’s heart was very weak and the sweating was a result of his heart working so hard to function. They measure your heart function between 20 and 65, 65 being the best and at anything below 20, the value is essentially irrelevant because you are almost dead. Leo’s heart function was 12. All we could do that night was hold him and cry. The next morning the genetics team came in to speak with us. They told us they had been in contact with the team from Gillette and were waiting on the results of the blood tests. A few days later we finally had the labs back. “Let’s take a seat,” the doctors said to us. “Your son has Pompe Disease.” Our immediate reaction was what is Pompe Disease? The doctors explained that it meant that Leo cannot break down glycogen. This results in a buildup of glycogen in the organs and muscles eventually causing death. The genetics team went on to explain that there was an infusion we could give Leo once a week that would help break the glycogen down. They also explained that the infusion was a treatment, not a cure, and it had limitations. After all of this, they would also need to take Leo into surgery right away so they could place a port-a-cath into his heart that would be used to administer the weekly infusion. They brought Leo back to us after several hours in surgery and it was the scariest thing I have ever seen. Tubes and IV lines were everywhere. We couldn’t hold him or comfort him because of a breathing tube they had put in. Leo had the breathing tube in for about three weeks. We couldn’t hold our baby for three weeks!! Our pulmonologist finally had a heart-to-heart with us about doing a tracheotomy. If performing this procedure meant that we could hold our son we were ready. Leo came out of surgery and we never put him down. After the trach was placed in Leo we fell into somewhat of a routine. Neither Anne nor I were working. Both of the companies we worked for told us to take care of our family. At about the same time, our friends started a Go Fund Me page for us. I struggled with the Go Fund Me page for a very long time. My brother and I were working on my house and I broke down crying about the page (and maybe a few other things too). I have never taken anything from anyone in my life and now people are giving us thousands of dollars, it was all too much. He hugged me and said, “Brother, they are not giving you this money they are giving Leo this money. They want him to be ok.” All of this support allowed us to be with our son and it gave us time to learn more about Pompe.

The information we found about Pompe was poor at best. That being said we did figure out what glycogen was. Glycogen is a chain of glucose, glucose is sugar, and Leo can’t process sugar! We immediately thought to ourselves that diet was going to be a huge part of his treatment. We asked our genetics team what we were going to do about Leo’s diet. Shouldn’t we be cutting out as much sugar and carbohydrates (which we also learned are just another form of sugar) as possible? They told us there wasn’t any evidence that cutting back on those things would help. It didn’t make sense to us. How could cutting out the thing that is literally killing him not help? After that, both Anne and I would lay awake at night thinking we were killing our child with the food we were feeding him. Around this time one of Anne’s brother’s Army buddies came into town to help us out. Don Bennett served with Anne’s brother, Joseph Michael Vanek, in the United States Army. Joe was killed in action in Iraq in 2007. I never had the privilege of meeting Joe but I have met many of the men he served with. I can tell you this, the men of Charlie Company 2nd Battalion 325th Airborne Infantry Regiment, 82nd Airborne Division are truly a band of brothers and they have supported my wife and my mother-in-law throughout the years. Don Bennett came into town to help with whatever was needed. We started telling him all about Leo’s disease. We told him how Leo’s body can’t break down glycogen and that a light bulb must have gone off in his brain.

In 2010 Don was hurt during a training mission for the Army. The Army wanted him back in action so they brought in some very skilled people to help him in his recovery. One of the things those people did was to teach him how diet and lifestyle factors can change the bodi’s genetic expression and speed up recovery. Don immediately started teaching us about nutritional ketosis as defined by Dr. Stephen Phinney and Dr. Jeff Volek.  While my wife and I were at the hospital or working on rebuilding the house Don would go through piles and piles of research papers on Pompe Disease, Lysosomal Storage Diseases, and the ketogenic diet from all over the world. Anne and I took turns at the hospital every day. When one was there the other was at the apartment with our other son. If you were at the apartment that meant that class was in session. Don would teach us all of the things he was learning from the medical studies and how a well-formulated ketogenic diet might help in a few different ways. A well-formulated ketogenic diet not only cuts the fuel to Leo’s problem by limiting the production of glycogen it also activates a process in your body called autophagy. More details about how a properly balanced ketogenic diet works and what autophagy is can be found on this website.

By December 2016 Leo was getting stable enough to come home from the hospital. We still had not convinced the doctors that changing Leo’s diet might help but we figured we would give it one last shot. We took everything we learned along with the studies to back up our argument to the doctors. They took the studies and gave them back to us with the same reply as before, there is no proof that changing his diet will help. We gave up on trying to convince them. We had to focus on getting Leo home. Once we got home Anne took over again. We knew the ketogenic diet was the right thing for Leo. Anne was determined to find the best doctor possible. She found Dr. Marc Patterson. He is the Chief of Neurology for pediatrics and adolescents at the Mayo Clinic. We sent our studies down to him and a week later we got a phone call saying come on down, we want to meet with you. He saw the same logic that we did. Leo has been on the diet since the middle of February 2017. When we first came home from the hospital we would take Leo’s blood sugar after his feedings and it would be above 100 every time. When your blood sugar goes above 100 you create glycogen. We also took Leo’s blood sugar during his infusion and we would see it go all the way up to 135. We believe it would get this high because the medicine was getting the glycogen out of his cells but because his diet already had his blood sugar so high, the glycogen would just get recycled back into his cells. Since Leo has been on the ketogenic diet his blood sugar never goes above 100 even during his infusion. I am not writing this saying we have cured our son what I am saying is we may have made his medicine more effective!

I would like to say this is the end of our story but I don’t believe that. Leo is not done and we are not done. This story will continue and with the help of the Mayo Clinic and everyone who has supported us, we will change the treatment and outcome of this disease. One last thing, Anne you are my partner in everything and our family will thrive because of your diligence. I love you and our boys more than anything!