The real cost of rare diseases

04 August 2014
Sarah's Story

Sarah, aged five, was born with a rare lung disease, Interstitial Lung Disease. It means she needs to be connected constantly to her oxygen, needs help feeding and must be cared for by a large team of health professionals.

The financial cost to her family has been substantial. “In the first year of life we were $18,000 out of pocket for medical expenses alone. We also had to install air conditioning and buy a new van to carry all of the equipment that Sarah constantly needs as well as our other two children,” says Sarah’s mum, Susanna Walker.

“Our home has been transformed into a hospital ward, with oxygen cylinders, meters of tubing and an oxygen concentrator, a pulse oximeter, a VPap machine, air purifier and many different medications and specialised formula and equipment for gastrostomy feeds.”

Families experience isolation, psychological and financial stress while they deal with delayed diagnosis and difficulties in accessing appropriate health services, quality information about the disease and social support services.

Often treatments are out of reach of families because they are not available or very costly.

Similarly, health professionals feel ill-equipped to deal with rare diseases due to lack of knowledge about diagnosis and management, and poor access to educational opportunities and specialised referral services.

Despite the struggles Sarah experienced in her first few years of life she now attends Year 1 in a mainstream public school. “She is a happy, thriving little girl,” says Susanna.

  • Share Story: