It was early morning on Sept.6 when Thomas came into this world. He was a beautiful 10lb.9oz.baby boy. Right from the start Thomas had problems. He had an enlarged right side of his heart and required him to be under an oxi hood. At day one of his life he was life flighted to a local trauma center where he would spend his first 10 days of life. Then ran many tests and were honest with me when they said they really had no idea what had happened, but there best guess was a valve had closed before it was suppose to causing a back up of blood in the heart. They also told me the heart was functioning well and he would out grow the problem. The day we left with our beautiful new son it felt like everything was going to be great. Weeks went by and things were good. Then around this very time last year Thomas got a cold and he just couldn't kick it. After several visits to the doctor they decided to put him back in the hospital back on oxygen once again he was life flighted to our local Trauma center. They ran more tests, did x-rays and took blood. They thought he might have had RSV but after testing him several time they found nothing more then a very bad cold. After 8 days they sent us home, but that wasn't the end of our visit, the next morning after a very bad night we found ourselves back in for a few more days. During this visit the x-ray techs kept saying his heart was large and was I aware of it. Of course I was not aware of it, but after some testing the heart specialist said I had nothing to worry about, so I didn’t. The next few months’ things got a little better, but things were starting to worry me. Thomas went to the bathroom very little, he had a harder time drinking then usual and he had a hard time rolling or even being on his belly for more then a few seconds. These weren't big concerns because he was doing every thing else a normal child would. It was right after the New Year when I noticed Thomas didn't seem to be growing as fast as his older brother, his face seemed to be getting very thin and his color wasn't very good. At his check up they found that Thomas had stayed the same weight for 3 months and they also became concerned. They sent us to have some test run. I found out his iron was low his liver function was bad and he was malnourished. I felt I had done something to make him this way, I asked the doctor how can this happen he eats all the time, not to mention he had 2 spoons full of cereal in each bottle because the Doctors felt he had reflux. All I could do was cry, my baby was sick and we had no idea why. They put him on all kinds of medications and sent us home. It would take a few days to weeks to get the results back so all we could do was wait. Before we had a chance to find out the results, Thomas got sick one morning and I decided to take him to see the doctor. I thank god everyday I went, because while I was in the waiting room Thomas started having trouble breathing and by the time we got to the back he was near blue. Even the doctor was scared, they put him on oxygen and called 911.It was back to the hospital for us and little did I know it would be the last time Thomas would see home. We would spend 2 weeks in our local trauma center where they ran test after test. They had an idea what they were dealing with but it was going to take more then a few blood tests to get to the bottom of things. Things were just not moving quick enough and Thomas was in a battle against time. During a visit with the doctor he mentioned CHOP, which is a children's hospital in Philadelphia, he told us they had dealt with cases like Thomas and that they might be able to help us. It wasn't a tough decision for myself or my family that night we decided we would go to CHOP.I figured if they have seen more of this then that is where we want to be. The day we got to CHOP Thomas was in real bad shape the flight was rough on him and they weren't sure he would make it through the night. The doctor came by to examine Thomas and said with out a doubt he felt it was Pompe Disease and told us that there was no cure. My heart hit the floor and all I could do was cry. They told us he would have to get a skin biopsy and that it would take 6 weeks for the results, we weren't even sure he had that much time left. I was also visited that night by the genetic department, at that point I was told about a trial going on at Duke in NC. It was a long shot and would require many guide lines but it was our only shot, so we began the process. I the beginning it seemed like a long shot but over a short period of time Thomas was fitting the criteria and it looked very promising that he was going to go. During our wait for the results Thomas had been doing great he was on a very high cal formula and was fed by a feeding tube. He had good days and he had bad. When Thomas went to the hospital after only one day he could no longer pick up his arms or kick his legs, he couldn't even smile because his muscles had gotten so week. All he did was lay around. I tried over and over working with him but he was just too weak. After a few weeks at CHOP he was a different baby, he didn't do a whole lot but he started reaching for toys and loved watching Barney. One day his dad came in for a visit and as soon as he saw his daddy he smiled, I just cried, it had been so long since I had seen a smile; I thought at that point he was going to beat this disease. The day the news came that Thomas had Pompe, we all celebrated. It seemed terrible but it was an answer and Thomas was going to go for his treatment now. The plans were made and my family packed for an adventure. It would be gone 6 months away from all our family but it didn't matter only Thomas mattered! The day we got Duke was exciting; I couldn't wait to hear what we would do next. I was going to help my baby get better. After 2 days of doctor visiting his room x-rays cat scans ekg's and more, we were called into a meeting. There in a room surrounded by doctors and specialist my husband and I were told that Thomas had been to sick and that he would not be excepted to the study. That day I will never forget, it plays over and over in my mind. I thought how could you have the medicine that will help him and yet say he is not good enough to get it. I know in my heart there was more involved in the process but my head kept thinking how could they do this. The min. I walked back to his room, he looked at me with those big blue eyes as to say it's ok let me go. I knew at that moment our fight was over and it was time to let him go. It was the hardest thing I ever had to do and I will never forget Thomas. He is on my mind all the time and not a day passes where I don't miss him. It was April the 3,2003 around 4:30 in the morning when he took his last breath. He died in my arms and his spirit went directly to my heart. I am writing this story so others who have had children that have suffered from Pompe disease do not feel alone. I also would like to think it will help those who have sick children that may have Pompe, see the warning signs early. I pray every day for a cure and know in time it will come but for now we have to keep up the fight and keep up the search.

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