IVAN's STORY
Ivan was born on October 4, 2002. Pregnancy and birth were normal, ammiocentesis was normal.
When he was five days old
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Ivan
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he went to surgery for an hernia inguinal with no complications and everything alright discharged from the hospital to home; although he seemed not to gain much weight.
At three months old, he was admitted to the hospital for a complete study because he still gains no weight and can’t hold his head uptight. The results showed swollen liver, strabism, hipotnonia and ataxia.
They first thought of a failure in fatty acids beta-oxidation process, so we went back home thinking it would be a matter of a life-long diet.
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Ivan with his brother Alvaro
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Six months later I was still worried and requested another study for him; they did a liver tissue biopsy, skin, muscle and genetic studies.
At nine months old, the genetic studies seemed to evidence CDG, so Barcelona’s labs started looking for CDG in the sample tissues they had. Meanwhile I researched on the internet and suspected CDG 1A which was later confirmed.
Ivan has had no heart problems, and has not needed hospitalization with the exception of last August because of seizures related to otitis and fever.
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Ivan finger painting
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Ivan is a very loving child. At 2 years and a half already understands everything we speak to him; he wants to eat from a spoon on his own, but needs a little help with that because he can’t completely control his hand to take the spoon to his mouth; he sits upright quite well and can get down on his knees easily and according to his physical therapist he has developed postural changes very well; Ivan loves to stand on his feet and to be taken places holding hands, although one of his problems is with equilibrium but he is working on that; he loves musicand he tries to sing with us the “jotas” and he is very funny when singing certain parts at the end of the sentences; he can say words like: hello, bye, papa, mama, foot, more, give me, bread, another, tv, grandma, grandpa, come, yes, no and the ends of many other words.
He plays a toy trumpet; sometimes he is very much convinced that he is right and is hard to change his mind.
The neurologist says his mental development is very normal maybe 5 months behind a child his age.
My last battles have to do with his loss of appetite because that makes it still harder for him to gain weight, but whenever God wants we’ll win that too.
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Happy Birthday Ivan
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He is weighing 9.5 kilograms and is 90 centimeters tall. His progress over the last months has been very good keeping in mind that he has had a few colds and temperature.
He is not on medications, except some cartinina drops that the nutricionist prescribed. Lots of carbohidrates and not excessive protein.
Whenever he gets a cold we have to administer antibiotics to prevent complications like otitis or bronchitis that could cause fever and seizures.
Ivan is a very happy boy with his father Jose Antonio, his older brother Alvaro who is 12 and does not suffer from CDG, and myself. We all try to provide lots of different stimulation and whenever he learns something new we congratulate him much and I have noticed that he himself when he realizes he has attained a new goal then he will applaud himself and at those times you would want to kiss him a lot!
eff: 02/23/2005