This is the first of (hopefully!) many blog posts to come.
Who am I?
My name is Ellie. I have two cousins who were diagnosed with Niemann-Pick Type C Disease (NP-C) as teenagers.
I have worked as a carer for people with NP-C and am on the Science Advisory Board for the Australian Niemann-Pick Type C Disease Foundation (ANPDF).
I am a student finishing off my Masters degree in Genomics and Health. My studies include a range of topics including rare genetic conditions, types of genetic testing, and screening measures.
My passion is learning more about people and what makes us who we are. I hope that in my future career, I can make science topics interesting and easy to understand for everyone!
Why a blog?
The motivation behind starting this blog was to help talk about ideas, considerations, and approaches to coping with NP-C as an individual, family, and community.
I will be including scientific research and concepts in my posts, so everything that I say (unless otherwise stated) is backed up with evidence. I would love for people to engage with these posts – so any feedback is welcome.
My question to you
I need your help in discovering what topics need a voice. What do you want me to talk about or see on this blog?
ANPDF is about the whole of the NP-C community – researchers, families, clinicians, and more. I want to do my best to write blogs that appeal to the needs and/or interests of the readers.
Want to know some special tips for NDIS funding? Ideas for wheelchair-friendly activities in Melbourne? How to take care of yourself whilst you take care of others? Let me know!
Stay supportive and supported,
Ellie
