- Biotinidase Deficiency
- Interviews
rachelj's interview
How did all start?
At birth
Do you already have a diagnosis? How long did it take you to get it?
Heel prick test done at birth, I was lucky and was born in a short window where testing was done in NZ
What has been the most useful thing for you so far?
Biotin, would be dead without it!
What have been your biggest difficulties?
Nothing really, super manageable once medicated. I do get low energy and eczema sometimes.
How has your social and family environment reacted? Have your social or family relationships changed?
I've had it forever so it's never really been an issue
What things have you stopped doing?
Eating food with raw egg white in it.
SOMEHOW I didn't get this very important piece of information until I moved to Australia in my early 20's
What do you think about the future?
As long as I have biotin, I'm fine!
So far, which years have been the best years in your life? What have you done during them?
All of them, I was lucky enough for this to be caught
What would you like to do if you didn’t have your condition?
Nothing, it doens't hold me back
If you had to describe your life in a sentence, what would it be?
As normal as the next person!
Finally, what advice would you give to a person in a similar situation?
Its very easily manageable!
