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Citrin Foundation
For patients and caregivers
Citrin Deficiency?
Citrin Deficiency?
Diagnosed with citrin deficiency?
Diagnosed with citrin deficiency?
Whether you have been newly diagnosed with citrin deficiency, or require tips and advices, we are ready to provide you with the information, broken down into different life stages such as infancy, toddlers, teenagers, adults, and more. Click on the icons to learn more.
RESOURCES
RESOURCES
LEAFLETS FOR CITRIN DEFICIENCY
These leaflets contains easy to digest information on citrin deficiency. You can download or print it and use it to explain citrin deficiency to your family, friends, school, and even workplace.
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PATIENT SHARING
When my son was diagnosed with CD when his jaundice lasted for months, I was initially relieved that it was not something more sinister. However as I read up more on CD, I realised there were many unknowns, for instance, what are the chances of a child with CD developing CTLN2 in adulthood and what are the factors that..
Our son was born on the 37th week at 2280g. He was quite small for a 37th week born baby. He was breast fed and drank well, but his height and weight were not growing very fast. He showed signs of slight jaundice, but his transcutaneous bilirubin levels were normal. I consulted doctors about his slowness in gaining weight..
At one-month-old, he was still very jaundiced and we felt that was a little strange. Most jaundice will go away on its own after a few weeks, but it was getting worse each day. We decided to bring him to the nearest clinic for a checkup and for his routine vaccination. That was when we found out that something wasn’t right.
The record says I was born in the 39th week, 1810g with a note ‘low birth weight’ and was in incubator for the first month. Phenylketonuria and homocystinuria were detected in the 2nd week but the physical data recovered to the normal range by the end of the 4th week. After that I stayed physically healthy until adulthood..
Recently, my child asked me if she could be a healthy and normal child just like her elder sister. I was devastated, later then I found out that the school teacher actually excluded her totally from biscuits , cakes and treats from birthday celebrations. And this was something she felt left out with and this was also despite..
Both of my children are patients of citrin deficiency. I hope my experience can help and support people in the similar situation. I myself did not have any health problems and used to even carry heavy loads in mountains for work so I thought the labor is going to be a piece of cake. But my first child was not born even a week after the water broke..
Citrin deficiency is a very complex condition. The information provided on our website is the general information for citrin deficiency patients which may not be suitable for your physical status. Please always consult your doctor and seek for advice specific to your condition.