Paperback: NPC and Me

Written by Sue Van Velsen

Sue Van Velsen has two nephews who started showing symptoms of NP-C in their late teens. She has followed the journey of the boys closely over the years. She was there when they received the diagnosis, during the hospital stays, and their drug trials. Having attended many conferences and hearing the information presented, Sue felt that there was a need for a more simplified version of the facts to explain what NP-C is and how it happens.

Having worked with several major publishers and running her own book production service, Sue decided to fund a children’s title for the Australian NPC Disease Foundation.

As luck would have it, over at The Florey Institute Lab, a student was working on NP-C disease who had an interest in illustration. Roshan heard about the book and was keen to work on the illustrations for us.

So the writing and design began, and now ready for you to take home!

Illustrated by Roshan Dillon

Having recently completed her Master of Biomedical Science, Roshan understands the science of NP-C disease. Her passion for visual storytelling makes this very talented young woman the perfect choice to illustrate NPC and Me.

Designed by Adam Laszczuk, Madacin Design

Adam has a long and extinguished career in publishing and has worked with the author for many years. He has generously volunteered his time to design NPC and Me, and it is his design that has really brought the pages to life and given the book a fun and friendly feel.

There are three disorders known as Niemann-Pick disease, types A, B, and C. These disorders were initially grouped together because similar symptoms, but we now know that they are different diseases. NPD types A and B are due to mutations in the SMPD1 gene, which causes a deficiency of a specific enzyme, acid sphingomyelinase (ASM). NPD type C is due to mutations in one of two different genes and does not involve a deficient enzyme. NPD type C is now considered a separate disorder, distinct from Niemann-Pick disease types A and B. NORD has an individual report on NPD type C in the Rare Disease Database. ASMD is also known as acid sphingomyelinase-deficient Niemann-Pick disease.

Source: rarediseases.org

NPC and Me was truly a labour of love. The first 100 copies of this book were made possible thanks to the generosity of everyone involved — each donating their time, talent, and expertise to bring this project to life.

• Author: Sue Van Velsen

• Illustrator: Roshan Dillon

• Designer: Adam Laszczuk

• Printer: Jossimo Pty Ltd

A catalogue record for this book is available from the National Library of Australia.

• ISBN: 978-1-7643201-0-8 (pbk)

• ISBN: 978-1-7643201-1-5 (epdf)

• ISBN: 978-1-7643201-2-2 (epub)