I was born in 1967 (Brisbane Queensland, Australia), and I was tested at birth for Galactosaemia... I was tested because my older sister - who was born in 1963 - died at the age of one month, because she had classic galactosaemia, but it was not diagnosed.
I have classic galactosaemia - Q188R. I have had a strict lactose/galactose/dairy free diet all my life. I have been very lucky, I had no complications, although over the past 2 years I have noticed a slight uncontrollable tremor in my fingers & hands, and in my 30s had early menopause. However I have been very very lucky, as I conceived and have had a baby. My boy will be 15 this October. He does not have galactosaemia, however he is a carrier.
My child's blood test showed he has Duarte Variant. I can not find a baby doctor that will see him. They all say they have no experience with it and to find a specialist. But I need to see someone. I am not sure what to do for formula but look online. What if my child gets sick who will I see. Is this normal, can you find me a doctor?
These are true stories and messages from moms I have received since I began this journey researching DG in 2008. Sadly I didn't start foldering the messages til 2012 but please see that many are in the same boat as you-confused and with many questions. The post is not to answer these questions specifically but to post to record the issues and questions for the public.