My daughter was diagnosed with B Thalassemia Major at 21 months of age. She will be 2 in a week’s time.
I knew I was a carrier but we only found out about my husband just before we got married. Our GP sent us to genetic counseling. Unfortunately they did not tell us much about what was involved with Thalassemia just that they could do nothing until I fell pregnant.
When I did fall pregnant we knew the odds were a 1 in 4 chance of having a Thal major child. We told our Obstetrician we were carriers but he strongly advised that a CVS test would put too much strain on the baby and as we were young and healthy it was probably better not to do the test.
I carried well and did not have any problems but still had to have an emergency caesarean to deliver her. My daughter began going off her food at about six months of age and never slept well from day one. I was always told to try different techniques to get her to eat and no-one seemed very worried about her not gaining much weight.
At about 19 months she had the flu and my doctor asked if she always had a pale complexion. I said yes, but knowing that my husband and I were both Thal carriers, he insisted on blood tests. Two hours after the tests, he had the results and I knew in my heart straight away that she was positive for Thal major.
She is now having transfusions every five weeks. She is not on Desferal yet because she has just started her treatment. We have not discussed her life expectancy and quite frankly, I don’t want to know.The medical staff who treat her are great especially her nurses.
We have been given a book from the Thalassemia Foundation but I have learnt a lot more from the Thalassemia Patients and Friends web site than anywhere else.
I think it is so important to bring this blood disorder to the attention of people at risk. Although my husband and I knew we were carriers we did not know exactly what was involved until it was too late.
All we can do for our daughter now, is to pray that one day through technology and the doctors efforts we can find a cure.
Written by
Linda Modellino, New South Wales
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