NPC is a RARE, LIFE-LIMITING, PROGRESSIVE, NEURODEGENERATIVE, FATAL disease, for which there is NO CURE. At present, approximately 28 people, Australia wide, are currently diagnosed with this devastating disease.

Autumn just celebrated her 16th birthday.

On 22/2/22 we received genetic confirmation of Autumn’s diagnosis -

Niemann Pick C (NPC Type 1).

What we need:

We need the financial freedom to spend precious time with our daughters.

Autumn has a life-limiting clock. We have a limited amount of time to make as many memories as possible, and provide her with the most fulfilling life. 

Funds raised will also be used to engage with the best experts globally, and allow us to provide Autumn access to every possible form of support available.

As this is a genetic disease, our 17-year-old daughter underwent genetic testing to determine if she too will be affected by this horrific disease. We recently received fantastic news that she is completely free of NPC. She feels so fortunate, and is praying for a cure so as her little sister, her best friend can enjoy all the things life has to offer too.

Autumn is a Warrior. She is our Super Hero! She is the kindest and most beautiful young lady, she worries about dying as a kid, and she fears being in a wheelchair for the remainder of her life. 

Our family is hopeful that Autumn will be the miracle that changes this devastating disease for everyone. We pray for a cure, and to be led to the hands of her healers. 

She struggles with the things most of us take for granted like walking, talking, swallowing, and fine motor skills. 

Her symptoms are becoming worse. She is clumsy, unstable and trips over her own feet regularly. Her speech is slurred, and her neurological abilities are declining. 

Over the years, her symptoms have made her a target for bullies. Every day she wishes she could just be like all the other 16-year-old girls. She had so many dreams of what life would look like when she grew up. But now she is so scared of what the future holds. 

Current treatments:

There is currently NO CURATIVE TREATMENT FOR NPC. 

Management of NPC involves multi-disciplinary support, and consideration of the use of a medication called Miglustat (Zavesca). Clinical studies show that it can slow down, or stabilise the progression of neurological symptoms, particularly in the juvenile and adult onset forms. 

Clinical trials are currently underway in Australia. The Australian NPC Disease Foundation, a dedicated committee and community, are fighting to raise funds for vital medical research into potential therapies for those already on a life limiting-clock. 

Honestly, $57800 is Autumn's Chinese zodiac lucky numbers. I’m unsure of what the future holds, or if this amount is realistic, or even enough, but, we need luck on our side.

My husband, Ash, is currently working 6 days a week, I have recently dropped my working hours to ensure we can manage Autumns multiple appointments. Our schedule is crazy, and it makes it difficult to seize every moment, and every opportunity to enjoy the time we have.

 

It’s a war against the enemy, and the clock is ticking...we don’t know how long we have.

Every contribution made is so greatly appreciated.

Sending our love, and virtual hugs to everyone, especially to our family, friends, and colleagues, and to all families fighting this and many other battles.

We wish to acknowledge and thank the amazing team at the Australian NPC Disease Foundation, The Florey Institute of Neuroscience and Mental Health and The Childhood Dementia Initiative.

We thank everyone for your support in sharing our campaign, creating awareness, and for all your donations. We really appreciate your messages of love and support, and for checking in on us. We are grateful especially to those supporting us, who we have not had the pleasure of meeting, we feel very blessed to be in your thoughts and prayers.

Finally, thank you to all the professionals supporting us; Dr. Alex (the best osteopath ever), Dr. Irina, Jennah, Emma, Amanda, Emilia, Dr. Hasnat, RCH Metabolic Team, Prof. Martin, and, especially, Dr. Dabscheck for not giving up on us.

We look forward to engaging with Prof. Mark and his team at The Royal Melbourne Hospital, they are the leading specialists in NPC disease. 

Sincerely,

Amanda, Ash, Bailee and Autumn.

You can also support the teams fighting NPC Disease directly by visiting

https://florey.edu.au/

https://www.childhooddementia.org/

https://www.npcd.org.au/