Being diagnosed with Fibromuscular Dysplasia (FMD)

I lost my kidney from a disease once considered rare but could affect one in 20 women in Australia

9 November 2021

Chris Shaw lived with sky high blood pressure for years unable to find a diagnosis for a disease once considered ‘rare’.

The mother of two from Geelong went on to lose a kidney from a mysterious disease – that was later found out to be fibromuscular dysplasia or FMD

What is fibromuscular dysplasia?

Fibromuscular dysplasia (FMD) is a vascular disease now thought to potentially affect up to one in 20 women in Australia.

Most women with FMD will have no symptoms and no medical issues, but in severe forms, the condition can be fatal.

And for Chris, this medical condition that affects the arteries caused severe kidney complications and aneurysms.

"My FMD was untreated and undiagnosed throughout my 20s and 30s. I suffered terrible migraines, nausea, vertigo, weight loss and sky-high blood pressure which damaged my kidney so badly they could not save it," says 51-year-old Chris.

"If I had been treated for FMD at the start of my illness, there is every chance I would still have my kidney and a whole host of other medical conditions could have been avoided. But despite having endless scans and seeing several experts, it was never picked up despite all the symptoms."

Chris' battle to get a diagnosis began in her 20s when she started to experience high blood pressure, vertigo and headaches. A normal reading was 180/110 but at times it reached 250/150 and even caused a blood pressure monitor to explode.

Despite being put on six different medications, her blood pressure remained stubbornly high and an array of experts who carried out scan after scan could not make a diagnosis.

"I was even told to stop looking for answers, and that it was a mental health issue, that I was crazy. I knew something was wrong and did not stop and eventually I was seen by a specialist who finally worked out what was happening. It was such a relief to finally know what was happening.

"But by then my right kidney was already damaged because the main artery to it was 95% blocked. They just couldn’t save it, so I had to have it removed.

"Other arteries in my body are also affected now and I have had many mini aneurysms. They used to be able to go in and repair the damage but now my arteries are so frail they only operate when it’s critical."

Research to discover the key genes behind fibromuscular dysplasia

Chris is incredibly excited by new research taking place at the Victor Chang Cardiac Research Institute which has helped identify the key genes that drive FMD.

Now that these key genes have been identified, it will lead to opportunities for better diagnosis and new treatments for a disease which was once considered rare, according to scientists at the Institute, who were part of a global team that conducted the largest ever study of FMD.

"Now that we finally know the scale of this disease and have identified the key genes driving it, we are hopefully one step closer to being able to find a cure and also ensure more women are diagnosed early so they can be properly treated and managed," says Chris.

"I also want to ensure that other women out there don’t have to endure what happened to me."