Citrin Deficiency could cause a diversified array of symptoms at different stages of a patient’s life. Different patients may also discover the condition under different circumstances and at different ages. Find out more by reading the stories from patients or their parents who generously share with us their experiences. These stories could hopefully help to demystify the condition, help us to understand the condition better and provide emotional support to fellow patients and parents of patients.
We are always interested to hear your unique experiences. If you have a story that you want to share, please contact us.
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FROM A FELLOW PARENT
How we found out that our son has Citrin Deficiency...
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, but was told that it was not an issue. -
FROM A FELLOW PARENT
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 can/will cause such development. In fact, the more I read up, the more questions I had and yet I was unable to find satisfactory answers. There was just too little medical research done in this area!
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FROM A FELLOW PARENT
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 our communication with the teacher and school.
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FROM A FELLOW PATIENT
My jaundice was very bad right after I was born, and I was admitted to a hospital. Test results suggested that I had galactosemia. This is a condition caused by not being able to digest galactose, which is part of lactose in milk and breast milk. The hospital gave me a special milk that excluded galactose. This helped my skin color to return to a normal color. My skin was abnormally yellow till then. My mother told me how happy she was when the nurse told her “ she actually had fair skin!
