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Michelle - posted on 03/01/2010 ( 2 moms have responded )

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hi my name is michelle . i have just joined this page. my child is different as he is not growing not eating and alot of other things . we go to alot of hospitals for check ups and all. just wondering ha any one any promblems like this

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Iridescent - posted on 03/01/2010

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Also, the effects of her diseases cause a lot of problems for us. She's on a special diet (very low protein). Will be on formula and medications her whole life. The outlook is really quite poor; none have survived into adulthood with full OTC without major brain damage. The OTC causes her hypotonia, regression, developmental delay, as well as reflux and also anorexia. She requires 1.5x the fluid of a healthy child her weight, and can't possibly drink enough, so her feeding tube runs through the night (9 hours) to allow her to eat orally during the day.

Before diagnosis we had no idea we have these defects.

Iridescent - posted on 03/01/2010

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We have a lot of problems with my youngest. She has a feeding tube and a vascular port. Her diagnoses are

Ornithine transcarbamylase deficiency (OTC)

Alagille Syndrome (genetic, doesn't display congenital defects but there are no known "carriers" with her defect so they expect problems as she ages)

Hypoglycemia

Global developmental delay

Regression history

Severe eczema (controlled with careful regimen)

Reflux (severe)

Chronic constipation

Hypotonia



She is hospitalized a lot, but it's getting better (for now). It used to be she was in the hospital more than she was home (for over a year). She's been able to stay out of the hospital since December this time. We have checkups with the Pediatric Metabolic Neurologist, Dietitian, GI, Geneticist every 2-3 months. We also have regular appointments with specialists for every other body system yearly or so, depending on need. Her usual child checkups are done as for any child with her pediatrician, but other than that she never sees the regular ped. Since the bulk of her appointments are 4 hours from here, it makes for a lot of work and stress.

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