MELISSA Edwards' family lost her before anyone identified the syndrome that caused her death when she was only 35.
Her long fingers, crooked sternum and abnormal height were the clues no one knew how to read.
Despite numerous appointments, no doctor or medical specialist recognised the symptoms as Marfan syndrome, a genetic disorder of the connective tissue that occurs in about one in 5000 people.
When Melissa was seven months pregnant in 2010, she suffered an aortic dissection and died two days later — cruelly, on Mother's Day.
She never met her healthy baby girl, Margaret Jean — 'M-J' to her family. Melissa's parents Graeme and Jean Edwards were left to bury their daughter, something they say no parent should ever have to endure.
Marfan syndrome is widely unknown, even in the medical world, and in an effort to combat that and save other families similar pain, the Ferntree Gully family tell Melissa's story in a DVD produced by the Marfan Association Victoria.
It wasn't until another of their daughters, Narelle, did some research after Melissa died that they realised she was a textbook case of Marfan syndrome. "It just fitted like a jigsaw puzzle," Mr Edwards said. "Had we known about those symptoms earlier, we could well have sought some assistance."
Women with the condition are generally warned not to have children because it weakens blood vessels. It is this which is believed to have caused Melissa's aorta, the main vessel carrying blood from the heart, to rupture.
Besides Melissa's story, the Marfan Association's DVD tells the story of one sufferer who survived the aortic dissection after surgery.
"The biggest part of this is that we don't want others to go through what we have, so they can have the knowledge before it gets to the crisis point," Mrs Edwards said. "It does help us because we know we are doing something to open up knowledge."
The Edwards now carry around cards outlining symptoms of the disease and pass them on to people who may fit the Marfan type.
But they say the most important part of their work is highlighting the issue to those in the medical profession. "Doctors see a lot of people walking around like a ticking time bomb, not knowing anything about their condition," Mrs Edwards said.
"The doctors don't know either, so they can't say, 'we need you to get an ultrasound or see a cardiologist'."
ABOUT MARFAN SYNDROME
Marfan syndrome is a genetic disorder of the connective tissue affecting the skeleton, heart, eyes, lungs, blood vessels and nervous system.
■ Long, narrow facial features
■ Sunken or protruding chest
■ Visual problems
■ Unusually long fingers
■ Extremely flexible or stiff joints
■ Stretch marks
■ Cardiovascular problems