Chris Shaw selfie

Chris’s story: The mystery disease that haunted her for 15 years

For many years, Chris lived with grueling symptoms and the threat of a heart attack or stroke due to unexplained high blood pressure.

Chris was only in her 20’s when she started experiencing mysterious symptoms like migraines, nausea and extreme weight loss. The most terrifying though, was her sky-high blood pressure.

Chris’s blood pressure was almost double the normal reading for a healthy adult.

“I started each day waking up with severe headaches and would start vomiting and then go to work. I was living with severe symptoms, and it was quite terrifying at times. My blood pressure would just shoot up even when taking up to six different medications” says Chris.

Chris, her husband Vic and their two children lived in fear that she would suffer a heart attack or stroke because of her high blood pressure.

Chris had to teach her children to dial 000 if mummy ‘fell down’ and couldn’t talk. She even wore a special medical necklace, that would explain her condition to paramedics.

And no one could tell her why. The cause of Chris’s symptoms remained a mystery.

Finally, after 15 years she received a diagnosis after a kidney scan. It was a genetic vascular disease called fibromuscular dysplasia, or FMD.

What is FMD?

Fibromuscular dysplasia or FMD is a vascular disease that makes the artery walls too weak or too stiff. It can vary in severity; some women may have little or no symptoms. For others it can lead to serious complications.

FMD can affect any medium-sized blood vessel in the body, including the heart. And in severe cases can lead to stroke or heart attack.

It was once thought to be a rare disease but shockingly, it is now thought up to one in 20 Australian women could share forms of this genetic disease.

It can be difficult to diagnose because varying symptoms can present within patients and so little was known about the disease for such a long time.

Nine in 10 people with FMD are women, but it is not yet known why women are so much more likely to be affected by the disease.

How did FMD impact Chris's life?

Once Chris’s doctors were able to diagnose FMD, they discovered the artery to her right kidney was blocked by more than 90% and that was causing the high blood pressure.

Chris has endured countless angioplasties (a procedure to unblock arteries) on various parts of her body.

And possibly the most life-changing consequence of FMD? Chris lost her kidney.

The years of high blood pressure had caused so much damage, her doctors had no choice but to remove it.

Tragically, Chris still lives in fear even now. She has an aneurysm in the artery in her neck, the walls of the artery have weakened causing it to bulge. It can’t be operated on and if it were to rupture, it would be catastrophic.

Chris’s family are what gets her through.

"Put a photo of your family on the fridge. That needs to be your priority, you and them." - she recalls the advice one of her doctors gave her.
Chris with her family (left) Chris and her husband Vic (right)

What is the Institute doing to help women like Chris with FMD?

After many years and international collaboration, Professor Jason Kovacic and his team have been able to identify the first five genes associated with FMD.

The most strongly associated, the discovery has shown, is a gene known as PHACTR1.

The team discovered this gene is implicated in many types of vascular disease, not just FMD.

The next steps for this research are ambitious and exciting for patients like Chris.

Professor Kovacic is hoping to commence an Australian based clinical study, with several hundred FMD patients to help better understand the disease. And he has plans to test a potential new diagnostic tool, once funding becomes available.

This research has the potential to improve the lives of many women like Chris who live with severe, life-threatening symptoms as a result of FMD. Your donation can help make it happen.

Acknowledgement of Country

The Victor Chang Cardiac Research Institute acknowledges Traditional Owners of Country throughout Australia and recognises the continuing connection to lands, waters and communities. We pay our respect to Aboriginal and Torres Strait Islander cultures; and to Elders past and present.

Victor Chang Cardiac Research Institute - The Home of Heart Research for 30 Years