A helping hand for Mary

On the 24th of March 2020 a very tiny, but very sweet, and bashful trouble maker joined the Gay family. She spoils them with magical smiles, relentless patience, good sleep and endless amusement. Her name is Mary.

She has experienced more, so far, than most at her age. At just three weeks she was admitted to hospital with multiple fractures. There was no obvious cause or event to explain her condition. She went through many tests, finally a broad scale DNA test provided some answers.


Mary has been diagnosed with a very rare condition called Osteogenesis Imperfecta (OI) Type 5. OI occurs in about 25-50,000 births. OI Type 5 occurs in only 3-5% of cases. This makes Mary a very unique snowflake.

OI Type 5 is a hereditary bone disorder characterised by fragile bones. Approximately 90% of OI cases are due to problems with collagen, a scaffold problem that provides structure to bone, skin, tendons and ligaments.  People, like Mary, with OI Type 5 have a problem with a different protein called IFITM5 which is important for bone formation.  

The most common feature is calcification of the interosseous membrane (IM). The IM loses flexibility when it hardens and might reduce Mary's ability to rotate her palms up and down and may also cause the dislocation of the radial head. 

Mary will have delayed physical development and need lots of assistance by specialists to achieve an ambulatory lifestyle.  She will also have a life-time of hyperplastic calluses, short stature, potential scoliosis, hearing loss, and problems with tooth development. 

Mary has been referred to the RCH bone dysplasia clinic for regular bone density monitoring and bisphosphonate therapy where appropriate. 

Mary's life will be very different from most other people's. Some things will be much more difficult. Her family is determined and dedicated to loving and caring for her as she grows and learns to move through the world. 


The money raised here will help the family cover medical and associated (travel and hospital parking etc.) costs.

Organised for Anthony and Carly Robinson.