Wednesday, October 14, 2009

Thoughts For Duke's Presentation

Duke asked me to write something on how I felt about John's diagnosis and everything that we have been though. It was kinda hard to write as I didn't know where to begin and how to sum everything up. Of course there was a lot that I left out of here, but this was what I was able to come up with in a short period of time.

Life for my son John started out a little rough. His umbilical cord was wrapped so tightly around his neck that it had to be cut before his complete delivery. He looked very pale, limp and wasn’t crying. His apgar score was a 4 at one minute and a 5 at five minutes. He was put on oxygen immediately. About 24 hours later he was allowed to come off and for the first time I was able to hold my newborn son. At about 4 months old I started to notice some small differences in my son and some of the children that were his age. It wasn’t until 6 months old that the differences became apparent enough that I knew something was wrong, but knowing it deep down and hearing a doctor confirm your worst fears are two totally different feelings. It was at his 6 month old check-up that the pediatrician referred us to a neurologist. Based on John’s clinical symptoms and his birth history the neurologist told us that John had cerebral palsy. Unfortunately the neurologist let some of her personal experiences guide what she told us and we left the office that day not knowing if we should schedule an MRI for John or not. A few months later I took John to see a neurodevelopmentalist and while the neurodevelopmentalist told us that John had cerebral palsy, she strongly encouraged that we have an MRI done to confirm this diagnosis. She also ordered genetic testing to rule out anything else. Our first attempt at getting John’s MRI done was not successful and it wasn’t until he was 12 months old that we were finally able to complete his MRI. I’d had a lot of ups and downs up until this point, but I would say that getting the results back of his MRI was probably the worst I had to deal with. I had already come to terms with cerebral palsy and had learned everything I could about the disorder and how to give John the best life he could have while dealing with his condition. I had prepared myself for the fact that the MRI would show damage in his brain because he had cerebral palsy. I wasn’t prepared to learn that he didn’t have cerebral palsy, but instead it could be a mitochondrial disorder or a metabolic disorder. It took me by surprise and at first I didn’t believe it. I thought somehow the radiologist didn’t know what they were talking about because John had cerebral palsy, but then the doctor called late that night and explained everything to us. While we waited on the results of the blood work I feared the worst. It was about a week later while we were on vacation in Missouri that we received a phone call from his doctor saying they thought John had a creatine disorder. After getting as much information as I could from the doctor I began to look up the possibilities that she had listed. While reading the medical journals about GAMT I just remember thinking to myself, “That’s it. That’s my son. Well except for the seizure part and he isn’t mentally retarded, but all the other symptoms fit him.” Unlike cerebral palsy, GAMT is treatable so I began to hope that this was what John had and after the previous week of fearing the worst, I needed some hope at that moment. Despite the fact that a lot of the symptoms of GAMT seemed to fit John, part of me still didn’t believe that John could possibly have it because it was so very rare. On our way home from vacation we stopped by Duke University to have his blood drawn. I looked at the vile to read what the label said because I wanted to know what they were testing him for and when I saw the word Guanidinoacetate I started to smile because I just felt like I was one step closer to having the answer and I was hopeful that this was it. When we finally received confirmation from the doctors at Duke that John had GAMT I mostly felt relieved. I had lots of questions for the doctors and I wanted to learn as much as I could so that I could help to make him better as fast as possible. I don’t think I realized he was going to be on such a strict diet until we finally started talking to the nutritionist. Part of me was a little sad for John that he was going to be on this very restricted diet the rest of his life, but, the other part of me knew that this was going to make him better, so if it meant I was going to have to teach him at a younger age that life wasn’t fair and he was going to have to just suck it up and eat only fruits and vegetables, well then that was what I was going to do. And I couldn’t quit thinking that a lot of people have a lot worse problems and I don’t know that in comparison you can really consider having to eat healthy the rest of your life a problem. After everything we had been through, this was an answer to prayer. GAMT is treatable and because we caught it early enough we are hopeful that John will make a full recovery. John has received treatment for 3 months now and it has been the most exciting and incredible 3 months of my life. I feel like the doctors at Duke have given me back my son and I can’t thank them enough for that. His personality has come back to life and just hearing him laugh out loud again makes me so happy. Everyone that has watched his physical development over the last 3 months calls him the miracle baby and it really has been a miracle to watch. Things that he struggled to do before now come so easily to him. John is making leaps and bounds in his physical development and even his fine motor skills are starting to improve, but I am still a little concerned about his speech. I feel like he will eventually learn to talk, but I just worry about him getting frustrated in the next year or two while he starts to understand more, but isn’t able to communicate with us. However, the hardest thing for me to think about is what would have happened to John if we hadn’t caught his disorder early enough. It’s very scary for me to think of what he would be like today if we hadn’t caught it. It’s sad to think that there are probably other children out there that are slowly dying inside like John was and haven’t received the correct diagnosis because there isn’t as much awareness about GAMT as there should be. I feel sorry for the mother that has to be told that their child has this disorder, but it’s too late and now there isn’t as much hope as I have been given for John. I want to do whatever I can to help bring awareness to this disorder. John has been given another chance at life and when I look at his future I see only great things. I don’t think of GAMT as a negative thing, but rather as something that saved my son. And who knows, maybe his first word will be Guanidinoacetate Methyltransferase deficiency!

John is Cruising


John has been cruising along furniture for a few weeks now. I need to find the time to really write the specifics down on here and update my blog, but he has been keeping me pretty busy lately.