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Liam
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When he was born ( January 30th 2004 ) he was small, but otherwise healthy. There was nothing found in those first tests that would make us concerned. We also have a 3 year old ( 2 at the time) daughter, Emma who is extremely bright and healthy, which was one more reason not to think anything.
At his 6 month well visit, he had dropped from the 15% to about the 5th percentile, which caused concern. At first I just figured it had something to do with the fact I had stopped nursing and was about to start solids...and maybe his growing body needed the extra calories from cereals and fruits etc... So we went about our lives. At his 9 month visit there was cause for concern when he hadn't grown much by weight and he wasn't doing the typical developmental things expected of him at that age. He was extremely uneasy while sitting and crawling seemed a world away. He isn't one to fuss much and his lethargy was mistaken for passive contentment. I figured that his chatty sister made it impossible for him to even bother talking. We started him on a high calorie diet full of neosure and Beechnut advance foods. (lots of calories in those jars!) I put rice cereal in every meal... That seemed to keep him on his own growth curve and lessened our worries. During all of this he was still not developing the way he should. His weight was our first concern.
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Liam and big sister Emma
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Time passed and here we are. When he turned one he was referred to a Metabolic Specialist, and a Neurologist for further testing. We found out after some blood work that his liver function was not right as well as some other related problems. So, more blood work resulted in his CDG diagnosis. We were devastated at first. We didn't know anything about this and were astounded to find out that both of us carried this gene that caused this in him. Now we are sitting waiting for a specific classification of his disorder.
I was lucky to find more people here with similar stories. I felt so alone at first, knowing how new and under diagnosed CDG is.
I am enclosing a few photos of Liam and his sister. When we had her I named her Emma for the simple reason that it means, "one who loves and accepts everyone". Now more than ever that name is appropriate. She is his light and his best friend. Our story is still unfolding and I will be sure to update you. We still have yet to find out what type he has. His blood and skin biopsy should have the answers and are expected soon.
eff: 3/2005
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Liam
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Since I last wrote, Liam's skin cells determined that he does in fact have CDG, but not any of the recognized types. In May we found out he was aspirating thin liquids and with the difficulty feedings already presented, we had to place a G- tube. We also knew he was in need of ear tubes so we had the two operations at once.
He is thriving well these days. He is gaining weight like a trooper and has the strength to play and move around. He crawls and pulls to stand. The future is still uncertain for him, as far as walking is concerned, but we are hopeful. This fall we go back to his Metabolic Doctor at Boston's Children's Hospital and look forward to seeing an orthopedics specialist. In December he goes for another swallow study to see if he continues to aspirate and we see a feeding team to help his swallow problems.
eff: 09/2005
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Liam
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Lately Liam has been quite healthy. His gagging and choking has lessened. He is getting a lot of therapy and becoming stronger each day. Late October his Special Ed planning meeting will take place and we'll have his I.E.P set for when he turns three. He is still fed many calories via. g-tube, but his ability to chew and swallow is so much better every day.
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Liam and Emma
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We begin each meal with an oral feed and finish off what we need calorie-wise by the tube. He is such a true blessing. So mild mannered and patient.