Geleophysic Dysplasia is a rare form of dwarfism that can affect many parts of the body, causing bones to stop growing. Short in stature, Renee is 83cm at 23 yrs of age. This condition affects the heart, lungs and bone movement. Renee has had two open heart operations to replace heart valves, requires oxygen 24/7, and sleeps with a bi Papp machine. She has blood tests every two weeks to make sure everything is stable.

Foundation Contribution

The Foundation has supported Renee since 2007 providing portable oxygen tanks every month, a lounge sofa bed to specifically accommodate her Bipap machine, and top up funding for a modified bathroom, so she can reach the taps and shower for herself!

Jordan & Logan live with a rare disease called X-Linked Chronic Intestinal Pseudo Obstruction XCIPO. They are 2 of only 3 children in the world with this rare disease. A defect in the Filamin A gene, it causes problems with the gastro intestinal tract’s ability to absorb enough food in order to survive, reliance on Parenteral Nutrition, a sterile solution containing all the nutrients required to thrive introduced through veins.

Foundation Contribution

The Foundation has supported Jordan and Logan multiple times providing air conditioning and medications.

Acute Disseminating (or demyelinating) Encephalomyelitis is a rare autoimmune disease that attacks the brain, often triggered after a viral infection or vaccination. Symptoms include stiffness, shortening and fluctuating muscle tone which causes involuntary movement difficult to control. Combination of spasticity and dystonia in both upper and lower limbs. Liam's intellect is intact.

Foundation Contribution

The Foundation has supported Liam multiple times providing a Dynavox V Communications Device and Levo C3 stand up wheelchair.

Congenital Disorder of Glycosylation Type 1a (CDG1a) is a rare metabolic condition that causes severe global developmental delays and severe expressive language impairment. Additional symptoms include; hypoglycaemia, seizures, cerebellar hypoplaysia, and intellectual disability. Patients in later childhood or adulthood can experience stroke-like episodes, and blood clotting abnormalities.

Foundation Contribution

The Foundation has supported Holly multiple times since 2010, providing an iPad, communication programs, ongoing speech therapy and most recently a manual wheelchair.

Pelizeaus-Merzbacher Disease (PMD) - lack of Myelin insulation around the nerves cause’s messages from the brain to various parts of the body to either not be received or only partially received. Severe hypotonia with no neck control, visual impairment, severe development delay. Mark also has Cortical Vision Impairment (CVI) and is non Verbal.

Foundation Contribution

The Foundation supported Mark in 2012 providing top up funding for a Jenx Chair, Shoulder Supports for the Jenx Chair, a Mulholland Rocket Stander and specialised computer software.

Arts Syndrome is a rare genetic disorder that causes deafness from birth, progressive muscle weakness, visual impairment, learning difficulties and the loss of reflexes. The disease is fatal during childhood (the majority die before 5 years of age) due to high levels of infections, especially of the upper respiratory tract.

Bradley (dec 29 June 2015) and Thomas (dec 27 June 2015) surpassed all medical predications and expectations, in no small part to the extraordinary care and love from their family, their resilience and incredible ‘strength of characters’. They were a big part of our Foundation family regularly attending events and helping us raise awareness through the media and promotion by sharing their story – which we will continue to do.

Foundation Contribution

The Foundation has supported Bradley and Thomas multiple times providing a modified vehicle and top up funding for a bathroom modification.