I felt like I needed to start a blog about this disease. Not only to let myself vent but also to help other people who are searching for information on Glutaric Acidemia type 1. When I found out my son had this I looked EVERYWHERE to find someone who has a child with this. The medical papers didn't give me much comfort.
I found out my son Bradley had this disease on June 13th. When he was only 3 weeks old.
After Bradley was born it was love at first sight! He was PERFECT! We were in the hospital for 5 days because he had jaundice. Bradley had a stuffy nose and seemed a little bit sick about a week and a half after he was born. So me, being a first time mom, had called the pediatrician to get him in to be seen. That is the appointment I don't think I'll ever forget. It was taking the doctor awhile to get into our room. When his doctor finally came in the room she sat down in a chair next to us and calmly told us that Bradley's newborn screening had came back abnormal and she wanted to do some more blood work. So of course any parent would panic, and trust me I did. She then proceeded to tell us that the newborn screening showed high amounts of amino acids, which led towards him having an Organic Acidemia type of disease. And when she said it I swear it sounded like she just spoke a different language. I had no idea what that even was, had never heard of it and even asked her to write it down. I started crying and couldn't stop. I asked her what it was and she said she wasn't even that sure because it is so rare she didn't have much information. I asked her if his screening was just a false positive. She just looked at me and said as calmly as possible that he is only the 2nd in our STATE to test positive for it...
Since the doctors office had a lab connected in it we went straight over there. My husband told me to go wait outside in the car because I still hadn't stopped crying. I called my mom in the parking lot. I couldn't even get it out. I wanted to scream, punch something ANYTHING I had so many different emotions going on I didn't know what to expect. I just felt like why did this have to happen to MY baby... I finally was able to actually talk without crying and I told her what was going on. I told her the name of what this stuff was and I wanted to look it up on my phone because I still didn't have a clue about this disease. She told me it would probably be best not to, and that it wasn't for sure that he had Glutaric Acidemia and to just calm down so I wouldn't freak out Bradley. After my mom was able to calm me down I sat in the car trying to just take it all in. My husband called saying I should come in because we had to stay there until Bradley was able to give a urine sample along with his blood and plasma sample.
So, I got myself together and went back in, walked into the room that my husband and Bradley were in. The office closed at 7pm so if he didn't pee within that time we had to go back first thing in the morning. Luckily we only had to wait a couple hours for him to finally go!
The doctor told us it would probably take a couple days to get the results back. and she asked if we wanted to be called right away of just wait till his next appointment which I think was a little over a week away and of course I said I wanted to be called the moment they came back.
I called the doctors office every day. Sometimes even twice a day. All of my friends and family would ask daily if we had gotten any news yet. I think it was about a week after that appointment when I got a call. My husband and I agreed that when they called he would be the one to answer it. My husband was asleep that morning when the phone was ringing. and I didn't want to wake him up so I just answered it. The nurse on the phone said Bradley's blood work came back and asked if now was a good time for us to come in to the doctors office. I remember saying "So.. Does he have this disease or does he not?" She said she couldn't tell me over the phone but that we needed to come in right away. I instantly knew it was bad. I honestly felt like I was going to faint. I told her we would be on our way.
I ran to the bedroom and woke up my sleeping husband. Again crying hysterically. He just gave me a giant hug and told me everything was going to be alright. We hurried and got ready to go to the doctors office. When we got there and in the room Bradley's doctor came in and showed us his blood results and explained that yes he did have Glutaric Acidemia type 1 and that he needed to go to Kansas City to see the specialist as soon as possible.
We went to Kansas City the next day. At that appointment we meet the team that would start taking care of Bradley; a genetics specialist, dietitian and the actual specialist for metabolic diseases. The specialist explained that this disease is life threatening if not treated right away for a crisis. It could cause him to be in a coma, brain damage, cerebral palsy like movements and/or developmental delays. We talked with the dietitian and Bradley was put on special medicated formula (Glutarex-1, Pro-phree and similac) We were given directions on how much to mix each of those with 22oz of water. He was also put on medication (Carnitine) that he has to have 3 times a day. along with a multi vitamin once a day.
My best advice for parents with children who have Glutaric Acidemia type one, Don't look stuff up about it on the internet until you've talked to your specialist. It's just going to stress you out. But it is good to read stories about families with a child who has this disease. Also join support groups. There is one on facebook and from paperwork your specialist should give you.
Bradley is now 2 months old and doing great! He has been in the hospital twice, but he's doing perfectly fine now. His dietitian also switched him to Duocal instead of Pro-phree which was a pain at first for him to get used to but now he doesnt seem to mind. Bradley has also started coo-ing and smiling A LOT :) He is a very tough little baby! I'm a pretty proud parent :)
