A rare genetic opportunity
Donation protected
Evelyn's Story:
Evelyn was born with an extremely rare genetic disorder. At the time, there was under 200 people diagnosed in the world and five known in Australia. The disorder is a frame shift mutation of the STX-BP1 Gene.
From eight weeks old she suffered between seven and twenty seizures a day and medication had little to no effect other than slowing her development. After three months, the seizures completely stopped and have not returned for over 4 years now. Unfortunately Evelyn is severely delayed and lacks basic levels of understanding, motor skills and is non verbal.
The Opportunity:
A rare opportunity has presented itself in a meet-up for other families with children affected with the same genetic disorder. The meetup is in Orlando Florida and is designed share knowledge, meet other children and give them all a chance to go to Disney World together as well.
The Challenge:
Being in Australia, the costs associated with this trip and the difficulties of long distance travel with a special needs child make the exercise quite prohibitive.
My wife and I work tirelessly to give Evelyn every opportunity to ensure her future is as good as we can make it. She never misses appointments with her Physio, OT, Speech Therapist, Chiropractor, Hydrotherapist, Genetic Paediatrician, Neurologist all while never missing a day of special school, daycare and kindergarten. Outside of Health insurance, we cover a majority of the costs of eveything for Evelyn ourselves.
It's a once off:
It is a tough desicison to justify a trip to America to meet these other families and with an added spot of leisure and it would come at the cost of missing out on some of her therapies as well. But at this stage there is between 30 and 50 other families from across America signing up for the trip and it would be extremely disappointing to miss this once off opportunity.
When will it happen:
The trip is in May 2018 and would appreciate any assistance or ideas on how to make this opportunity a reality! Please don't hesitate to contact me if you have any questions relating to Evelyn's disorder as I am happy to discuss anything that may push her forward!
Your Contribution:
We cover a majority Evelyn's therapies and developmental opportunities out of our own pocket and therefore leaves limited room to budget for an international meetup opportunity like this.
As a growing little girl who is approaching five, life can get pretty tough when you can't speak, need constant supervision, nappies changed, other people stare or take advantage of the fact you can't communicate.
Through all of her struggles and challenges, we continuously strive to keep a smile on her face. The ability to take Evelyn to meet similar children, gain valuable advice on what others do to advance their children further and provide the happiness of further experiences under the backdrop of Disney World is a challnge worth taking on in our eyes.
Thank you for reading about Evelyn, our extremely rare and gorgeous little girl.
Evelyn was born with an extremely rare genetic disorder. At the time, there was under 200 people diagnosed in the world and five known in Australia. The disorder is a frame shift mutation of the STX-BP1 Gene.
From eight weeks old she suffered between seven and twenty seizures a day and medication had little to no effect other than slowing her development. After three months, the seizures completely stopped and have not returned for over 4 years now. Unfortunately Evelyn is severely delayed and lacks basic levels of understanding, motor skills and is non verbal.
The Opportunity:
A rare opportunity has presented itself in a meet-up for other families with children affected with the same genetic disorder. The meetup is in Orlando Florida and is designed share knowledge, meet other children and give them all a chance to go to Disney World together as well.
The Challenge:
Being in Australia, the costs associated with this trip and the difficulties of long distance travel with a special needs child make the exercise quite prohibitive.
My wife and I work tirelessly to give Evelyn every opportunity to ensure her future is as good as we can make it. She never misses appointments with her Physio, OT, Speech Therapist, Chiropractor, Hydrotherapist, Genetic Paediatrician, Neurologist all while never missing a day of special school, daycare and kindergarten. Outside of Health insurance, we cover a majority of the costs of eveything for Evelyn ourselves.
It's a once off:
It is a tough desicison to justify a trip to America to meet these other families and with an added spot of leisure and it would come at the cost of missing out on some of her therapies as well. But at this stage there is between 30 and 50 other families from across America signing up for the trip and it would be extremely disappointing to miss this once off opportunity.
When will it happen:
The trip is in May 2018 and would appreciate any assistance or ideas on how to make this opportunity a reality! Please don't hesitate to contact me if you have any questions relating to Evelyn's disorder as I am happy to discuss anything that may push her forward!
Your Contribution:
We cover a majority Evelyn's therapies and developmental opportunities out of our own pocket and therefore leaves limited room to budget for an international meetup opportunity like this.
As a growing little girl who is approaching five, life can get pretty tough when you can't speak, need constant supervision, nappies changed, other people stare or take advantage of the fact you can't communicate.
Through all of her struggles and challenges, we continuously strive to keep a smile on her face. The ability to take Evelyn to meet similar children, gain valuable advice on what others do to advance their children further and provide the happiness of further experiences under the backdrop of Disney World is a challnge worth taking on in our eyes.
Thank you for reading about Evelyn, our extremely rare and gorgeous little girl.
Organizer
Shane Murray
Organizer
Chermside West QLD
