Hi all,
My son has just been diagnosed with PiZZ Alpha and has been referred to a top liver specialist. I've joined a Facebook group, but as it's a relatively rare condition I don't know anyone else with it. The Facebook group seems nice, but I was wondering if anyone here has experience of the condition (particularly that phenotype as it's the severe type.)
I know that the family will need to be referred for genetic counselling, I'm going to be enquiring about that on Monday, but does anyone with the condition have any tips or advice as to what I should be asking?
My son also has likely hEDS and ASD (going through testing for both) so is slightly more complex in an already complex matter. 