Uniting Australasian CSS Families
Donation protected
Coffin-Siris Syndrome is an extremely rare genetic disorder.
Most symptoms include: Mild to severe intellectual disability, developmental delays (sitting, walking, talking, learning), frequent respiratory infections, poor muscle tone, feeding difficulties, variations of facial features (wide nose, low nasal bridge, wide mouth, thick lips-eyebrows-eyelashes), vision issues, mild to severe speech delays, seizures, heart complications, ADHD, short 5th fingers and toes or absent nails. These symptoms vary with each individual.
This syndrome is relatively new to the medical world, with very little research about it. Some families around the world have searched for years for this diagnosis. To date there is less than 200 reported cases worldwide, including 17 in Australia and 8 in New Zealand. Of these 25 Australasian children, the oldest is 15 years old and the youngest only 8 weeks.
All of these families have been through and are still experiencing tough times with endless medical appointments and procedures, resulting in sleep deprivation and unrest for the whole family, along with stress, worry and uncertainty of what the future may hold.
Three years ago a few American families organised to get together; the following year they united 23 families - this year over 80 families managed to meet at a conference in LA where they were lucky enough to share their story along with listening to a few of the researchers.
Here in Australia/New Zealand we’ve managed to link via social media with each other for much needed support and advice to help each other through this journey we’re on.
We all now feel it’s time to meet in person, to discuss/compare/explore all of our experiences, medications and therapies but we’re all spread throughout the country.
We aim to raise funds to help in our transportation and accommodation costs to unite us all for a few days in a central location, hopefully along with some leading doctors and/or researchers as there’s very limited knowledge in Australia/New Zealand at this time.
Travelling with any child can be stressful, let alone one with extra needs, and financial support would help ease some of the stress for the families.
We all would be very appreciative of your support.
Most symptoms include: Mild to severe intellectual disability, developmental delays (sitting, walking, talking, learning), frequent respiratory infections, poor muscle tone, feeding difficulties, variations of facial features (wide nose, low nasal bridge, wide mouth, thick lips-eyebrows-eyelashes), vision issues, mild to severe speech delays, seizures, heart complications, ADHD, short 5th fingers and toes or absent nails. These symptoms vary with each individual.
This syndrome is relatively new to the medical world, with very little research about it. Some families around the world have searched for years for this diagnosis. To date there is less than 200 reported cases worldwide, including 17 in Australia and 8 in New Zealand. Of these 25 Australasian children, the oldest is 15 years old and the youngest only 8 weeks.
All of these families have been through and are still experiencing tough times with endless medical appointments and procedures, resulting in sleep deprivation and unrest for the whole family, along with stress, worry and uncertainty of what the future may hold.
Three years ago a few American families organised to get together; the following year they united 23 families - this year over 80 families managed to meet at a conference in LA where they were lucky enough to share their story along with listening to a few of the researchers.
Here in Australia/New Zealand we’ve managed to link via social media with each other for much needed support and advice to help each other through this journey we’re on.
We all now feel it’s time to meet in person, to discuss/compare/explore all of our experiences, medications and therapies but we’re all spread throughout the country.
We aim to raise funds to help in our transportation and accommodation costs to unite us all for a few days in a central location, hopefully along with some leading doctors and/or researchers as there’s very limited knowledge in Australia/New Zealand at this time.
Travelling with any child can be stressful, let alone one with extra needs, and financial support would help ease some of the stress for the families.
We all would be very appreciative of your support.
Fundraising team: Australasian Funds Managers (3)
David Kelly
Organizer
Pilot Wilderness NSW
Hayley Krause
Team member
Sarah Norrie
Team member
