CDG Awareness

My name is Haley Pierce and I have a daughter that has been recently diagnosed with CDG-1a one of the many forms of CDG (congenital disorders of gycosylation)and the most common. CDG is one of the many rare diseases around the world, there is actually only about 700 cases worldwide, and 1 out of 5 children will not even make is to there first birthday. CDG has many symptoms like failure to thrive, crossed eyes, hypoglycemia, abnormal fat distribution, blind, deaf, liver disease and many more. CDG does not have a cure, but hopefully someday it will, scientists are looking more into this disease today.

My Story

On July 2, 2010 my daughter Kaydence was born, I couldn't be more happier on that for I had my first born child and my husband Cameron there beside me.When Kaydence was born I didn't even get to hold her. When she was still in my whom she had meconium aspiration, and had to be put on oxygen and to get examed.The first thing a mother looks forward to at birth is getting to have that first mother to baby bond and I didn't get to have that pleasure. When I finally got to see her in the nursery she was the most beautiful thing I have ever seen, weighing only 6lbs and 11oz. We were in the hospital with her for 6 days until we got to finally go home with our precious baby girl. When we got home it was just like a normal bringing home the baby, all the family and friend visitors, people trying to help, and Cameron and me being first time parents taking in all the new things with a newborn baby. When Kaydence was in the hospital they could only give her small amounts of formula, and when we finally got to give her as much as she wanted she would not even take a full oz. of formula, which led her to lose almost a full pound. At Kaydence's first pediatrician visit she weighed only 5lbs and 13 oz. Due to that we had to take her in every 2 days to get weighed to make sure she was gaining weight, which she wasn't. Two weeks after Kaydence was born my husband had to leave for Pensascola,FL where he would be stationed for the US Navy.A couple months later the baby and I would be reunited with him there in Florida and we could finally start on our own as a family. A couple days after Cameron left I started noticing Kaydence still wasn't taking in very much during her feedings and after every feeding she would literally throw up everything she just ate and sometimes even more. She also became fussy and wouldn't stop crying for sometime until I could finally get her to sleep, I told the pediatrician and he acted like it was completely normal and told me to change the formula and the nipple and see how that works. I did what he said and it only made it worse. After a few days of this my motherly instincts kicked in and I took Kaydence to the emergency room that night. When they brought us back I thought she might have a bug or a little stomach virus, but when the doctor told me they don't really work with children and it sounds serious and her weight was so low, they transferred us to Dell Childrens Hospital in Austin,Texas that night in the ambulance. I didn't know what to think I thought it would just be a quick in and out and give her this every couple hours. When we got to the hospital I never imagined she would be in there for over a month. They did test after test on her, multiple x-rays and IV's, and even changed her formula countless of times. They couldn't seem to find anything wrong with her not even a fever, until one day they asked a metabolic doctor to come and see her. He did what all the other doctors have done, exam in from head to toe, ask us all the same questions, and looked over her records. We knew she had severe acid reflux when they did an upper GI on her, and when blood test results came back we found that she in fact did have a medabolic disorder but wasn't sure on what kind or type. After many weeks of waiting on the other blood results that would tell us what she has we finally got it back that she did in fact have the disorder CDG-1a that the medabolic doctor hoped she didn't have. When we got the news it was one of the saddest days of my life. I never would have dreamed of having a child with something this serious wrong with them. I wanted my children to have a normal healthy life just as I and Cameron had, but those dreams were gone and I knew that I would probably be taking care of my child for as long as I had lived. Shortly after we got the news my husband had came back and had been with me the whole time at the hospital with us, and he had to get back to work in Florida so we had Kaydence transferred on an airplane to Mobile,Alabama where she would now and still to this day is at the University of Alabama children's and woman's hospital. It's an hour drive for my husband and I to there from Pensacola,FL and we go up there almost everyday to be with her. Kaydence is now almost 3 months old and she does almost all the things a normal baby can she smiles and giggles at you, and she doesn't vomit anymore after her rescent nissan surgery and she is a much more happier baby after that. She is also up on her weight being 8lbs now and still growing! We love her so much for who she is and after all that we have been through I wouldn't change a thing because she has made me a better person,wife and mother. I'm so happy that we found out her disorder at such a young age because a lot of people are not so lucky. I'm also glad and proud of myself for being a first time mother to have the instinct on taking her to the hospital when I knew something was wrong, even though everyone around me were telling me otherwise. If you ever know deep down that something is wrong with your child don't hesitate to stand up and do something about it. I love Kaydence so much and I'm going to be her voice for this disease because she is truely one of a kind!