Woman diagnosed with rare disease her doctors had never heard of

She was on the brink of a promotion and a milestone birthday when she discovered she was suffering from a rare disease.

When Sydney woman Ruby Munsie lost her voice multiple times in a year, she didn’t think much of it.

But the 29-year-old was suffering from a rare disease – and losing your voice is a common among sympton for sufferers.

Ms Munsie suffers from Superior Mesenteric Artery Syndrome (SMAS), it occurs when the small intestine is compressed between two arteries causing a partial blockage – making it incredibly painful to eat.

The condition affects less than 0.3 per cent of the world’s population.

The Sydney woman first visited her GP in October last year after a few friends raised concerns about recent weight loss.

Ruby Munsie was diagnosed with a rare disease even her doctors hadn’t heard of. Picture: Facebook

She was diagnosed with SMAS – a vascular compression syndrome that makes it painful to eat. Picture: Facebook

Ms Munsie had been experiencing some nausea, reduced appetite and a discomfort on the right side of her abdomen after eating that gradually worsened into a severe and constant pain.

However after a few routine tests came back without any conclusive explanation for her symptoms, she was left to suffer in silence.

She remembers clearly the day she finally admitted herself to the emergency department of St Vincent’s in Darlinghurst for two reasons.

In the office two days before she admitted herself to hospital in 2023. Picture: Supplied

She had just been promoted to Senior Counsel at the legal software company where she worked and at the same time, she was experiencing some of the most immense pain of her life.

“I no longer felt like I could stay at home due to the level of pain I was in and my inability to eat enough to survive,” she said.

She initially put off seeing a doctor because of her hectic work schedule and a fear that it was all in her head.

This was not the first time she had experienced pain while eating.

In January 2020, she lost a significant amount of weight very quickly and vomited every time she ate.

Ms Munsie with best friend Nikeesha at Taylor Swift’s Eras Tour. Picture: Supplied

Her feeding pump carry bag decorated with SMAS awareness beads left over from making bracelets for the Eras Tour. Picture: Supplied

Doctors initially told her it was psychosomatic before she was diagnosed with another rare vascular compression syndrome called Median arcuate ligament syndrome (MALS).

She underwent surgery in April 2021 and within a matter of months was feeling fit and healthy again.

“I’m still really thankful for the time I managed to get after the surgery, because I feel like I appreciated it in a way most people can’t,” she said.

“You don’t realise how much sickness can take from you, but it has been pretty devastating to have it happen again,” she said.

She now uses a feeding tube to eat but has been in and out of hospital for months due to complications with the device.

She is now searching for a medical team that can help treat her. Picture: Facebook

Her loved ones have been desperately searching across Australia for a doctor or team that can help treat her.

“It’s been really difficult to find doctors that are willing and able to help,” she said.

“I was originally told that there were no Australian doctors that could assist and I should look overseas but this isn’t realistic for me at the moment.”

Her battle became all the more harder when she unexpectedly lost her job in February.

The loss was devastating as her job provided a much-needed distraction from the pain and was the only thing lightening the load of her expensive medical treatment.

At the moment she is running through thousands of dollars a month to cover her lifesaving care while she waits for a determination from the NDIS.

Her best friend Nikeesha Justice started a GoFundMe with the goal of raising at least $25,000 to help cover her out of pocket medical costs, legal expenses and services to improve her quality of life like a cleaner and physiotherapy.

“As people that know her are aware, Ruby is the last person that wants to ask for help but her current situation means she can no longer deny it is needed,” Ms Justice said.

“Please help make one part of this fight easier for Ruby so she can focus on recovery.”

The GoFundMe can be found here.

Originally published as Woman diagnosed with rare disease her doctors had never heard of