Hello everyone. My name is Jill, and I have a story to tell about my amazing and fearless son, Thomas. Thomas was born on Sept. 6, 2002. His trip was less then smooth. Although he looked like a beautiful and healthy 10lb 9oz baby boy, he had some problems with his heart being enlarged. On day one, before I had a chance to hold him, he would take his first flight to the local trauma where he would spend the next 10 days fighting to breath on his own. Doctors had no direct answers to what may have happened, but they assured me that he was going to be okay. The day he came home for the first time was wonderful. I hadn’t been able to hold him a whole lot in the PICU so I was making up for lost time.
Everything seemed great. He was almost 2 months old when he got a bad cold that wouldn’t go away. After a few stops at our doctors, they decided to put Thomas back in the hospital. That evening he would take his second flight and visit his good friends at the trauma center again. He was tested for many things, but nothing showed up. First, we spent 8 days in and were sent home. That night I was more scared than ever. He had a very bad night and ended up back in (the PICU) for a few more days. At that time I was told his heart had been large by some x-ray techs, but after testing by the heart doctor, I was told there were no worries. He seemed to be getting better so I didn’t.
The months to follow were okay. He would get a cold fast, but it was that time of the season. He seemed to be holding his own. The holidays were good, and we brought in the New Year with big hopes. Little did we know 2003 would end up our worst year ever.
At his 4 month checkup, Thomas had stayed the same weight for 3 months and was very pale in color. I had concerns about him, and now the doctors did too. They sent him for testing, and all we could do was wait.
Thomas had trouble going to the bathroom, eating, and even being on his belly for longer than a minute. He couldn’t roll over yet but he was still young. Everything else seemed fine. When the tests started coming back, there was a sure sign that something was very wrong. His liver function was down; his iron was very low, and he was considered malnourished.
One morning Thomas got sick, and I thought to take him to the doctor right away. I think God stepped in that day because Thomas started having trouble breathing in the waiting room, and when we got back to see the doctor a few short minutes later, he was hardly breathing and almost blue. He was put on oxygen and sent back to the hospital. It would be the last time he would ever see his home.
We first spent around two weeks in a local trauma center where he underwent test after test. They had an idea of what they were dealing with, but it wasn’t that easy to get the answers. One day when the doctor came in to talk, he told us about CHOP, this was a children’s hospital in Philadelphia. They had seen cases like Thomas, and he felt that this might be the place he needed to go. I sat with my family, and in a few short hours, we decided he needed to go to CHOP. The next morning he was life-flighted once again. His trip was rough and Thomas was fighting really hard to hang on. We had nurses tell us they thought he might not make it through the night. He was put on C-pap and started fighting really hard. The doctors told us they were pretty sure he had Pompe disease, and after a skin biopsy, they would know more. That seemed simple, but then they told us it would take 6 weeks for the results and that was time we didn’t think Thomas had.
That evening I was visited by the genetic doctor and told about the study going on at Duke University. It was a long shot but our only shot. We started the paperwork and waited for the results.
As the days went on it looked more and more like Thomas was going to get the treatment he needed. He had good days, and he had bad. He was given a feeding tube and given a high-calorie formula. Over the weeks Thomas was fighting with all his might, and his family was too. He started moving his hands a little which he hadn’t done since the day he got sick. He also got life and color back into his body. The nurses told me all the time how great he was doing and how far he had come. The day the news came, we celebrated. It was a terrible disease, but it was an answer and now we could get treatment. The plans were made and we were off to a long vacation in North Carolina. There we would spend the next 6 months but that didn’t seem to matter, only Thomas getting better mattered.
I flew with him and his dad and big brother followed. It was my first flight, and he was a little pro. It was an exciting trip, and we couldn’t wait to get started. He had one more step before the treatment and that was like a physical. After 2 days of that, we were pulled into a meeting with all kinds of people, yet it seemed like we were the only people in that room. At that time we were told Thomas had been too sick and would not be accepted for the trial. All that hard work and fighting seemed useless. My husband and myself just cried; there were no words to be said. I felt my world crashing down, and there was nothing I could do. How could they have the medicine to help and yet turn anyone away is all I could think. I knew there was more to it, but it didn’t seem fair. I returned to Thomas’s room. As he looked up at me with those big blue eyes, I knew his fight was over. I could not let him go in this way when there was nothing more they could do. I wanted to hold my baby, squeeze him tight, and let him know it would all be all right. I said to the nurse I want it off, all of it, and I want to hold my baby.
That night plays over and over in my mind, and it never gets any easier. We held him tight and loved him as much as we could. The hardest part was seeing my 6 years old having to say good-bye to his brother and not really sure why. It was early morning on April 3rd when Thomas took his last breath and died in my arms. I will never forget that moment or the strength that little boy had. I know he left his strength behind us because I am not sure how we get through each and every day but it is because of his fight that we fight to get our family back to normal. It will never be the same but we go on, and every day he is still a huge part of our lives. We will never forget him and his battle, and we hope others will get interested in learning more about this disease and help out those who suffer. I wrote this story because I am proud of my little man, and I want to help others in any way. I want to make this rare disease more known to the people that can make a difference, the doctors. I pray every day for a cure and my hope for the future is that no one will ever suffer from Pompe disease again!
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A Mothers Anguish April 6, 2002, was the saddest day of my life. Senselessly, while in the care of an inept medical system, my wonderful daughter passed away. Her name was Patty. Everyone, especially the medical profession, should be aware of the potential for this to...
This is the story of me from before I was diagnosed with Pompe’s disease. I hope this helps to enlighten the medical community as well as other Pompe patients. Back in 1965 my Mom was told that I would be born on December 2nd. This date came and went and the...
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To further research into Pompe Disease, as well as support Pompe patients around the world, private funds must be raised. If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:
AMDA (Acid Maltase Deficiency Association)
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