Florida woman is 12th person in world to have rare cancer

You would never know from looking at Rose Yarusskaya, 38, that she has spent the last two and a half years battling three bouts of a rare head and neck cancer and has had to have her forehead completely reconstructed.

What Rose, a mother-of-two from Florida, thought was the first sinus infection of her life in 2015 suddenly morphed into a welt on her forehead, and turned out to be a golf ball-sized tumor.

The cancer ate through the front of her skull and came back twice, thanks to a rare genetic mutation that she shares with only a handful of other people in the world.

Rose is in round three in her match against cancer, but she remains resilient and hopeful as she divides her time with her husband and children in Florida and embarks on a clinical trial in New York to beat the DNA that lets the cancer keep coming back.

Rose Yarusskaya gave a weak smile while recovering from her first surgery in 2015 to remove a rare tumor from her forehead, which had to be reconstructed using a metal plate

Rose Yarusskaya gave a weak smile while recovering from her first surgery in 2015 to remove a rare tumor from her forehead, which had to be reconstructed using a metal plate

Rose Yarusskaya gave a weak smile while recovering from her first surgery in 2015 to remove a rare tumor from her forehead, which had to be reconstructed using a metal plate

Rose was diagnosed with head and neck cancer for the first time two-and-a-half years ago when she was just 35, a young mother-of-two and wife, living and working in New York, but with plans to move to warmer territory in Florida.

In the weeks before her diagnosis, she noticed some swelling around her eyes, but figured it was just a side effect of the long hours she had been working as a speech pathology case manager.

The swelling soon turned to congestion, and then ‘a bump appeared on the middle of my forehead, and I knew that didn’t look kosher,’ Rose says.

Days later, she came back to her doctor with double-vision and left with a wildly different diagnosis than she had expected.

‘I don’t know how to tell you this,’ she remembers the doctor saying to her, ‘but you have a sinonasal carcinoma through the entire orbital bones of your forehead. I’m not sure if it penetrates through your brain.’

Rose speaks of all of this matter-of-fact-ly, and is always smiling – even in hospital pictures – but after that fateful conversation, she says she cried for two days.

‘I kept thinking, “I’m dying, how did I get myself into this?” because [the doctor] said it was so big.’

In reality, the kind of cancer she had is as aggressive as it is rare, affecting only about one in every 500,000 to one million people. 

Its tumors form and grow at a breakneck pace, but it is so rare that her own ear nose and throat specialist had never seen a case.

But, never one to wallow, Rose jumped to work finding the reconstructive surgeon her doctor had told her she would certainly need.

It's impossible to tell now that Rose's forehead bones had to be replaced with metal

It's impossible to tell now that Rose's forehead bones had to be replaced with metal

A golf ball-sized tumor once protruded visibly from Rose's head and inflamed her face (right) in 2015

A golf ball-sized tumor once protruded visibly from Rose's head and inflamed her face (right) in 2015

It’s impossible to tell now that Rose’s forehead bones had to be replaced with metal (left) but a golf ball-sized tumor once protruded from her head and inflamed her face (right) in 2015

She got in touch with Dr Peter Constantino – ‘he is God in my eyes,’ Rose says – and Dr John Boockvar at Lennox Hill Hospital in New York City, where Rose was born and raised.

With so little information and no clear prognosis, ‘obviously I was losing it,’ Rose says, until Dr Constantino called to assure her that she ‘was in safe hands and will live.’

Her new medical team moved quickly. The tumor was pressing against Rose’s sinuses and it had already filled every space there, and, trapped, was eating its way through her skull. There is no telling what might have happened if it hadn’t caused that sudden welt to form on her face.

To remove the tumor, Rose’s team of surgeons had to do a craniotomy coronal, cutting from ear to ear because the mass was too large to be taken out through her nose.

Her entire forehead had been eroded and it, along with her frontal sinuses and olfactory bulbs, had to be removed, meaning that Rose no longer has a sense of smell, and sports a titanium plate where there was once bone.

‘Anywhere the tumor touched, they had to replace,’ Rose says, but even now, two-and-a-half years later, she still marvels  that her ‘appearance hasn’t changed at all,’ thanks to the new forehead that Dr Constantino crafted for her.

In April of 2016, Rose had completed her first surgery and rounds of chemo and radiation

In April of 2016, Rose had completed her first surgery and rounds of chemo and radiation

In April of 2016, Rose had completed her first surgery and rounds of chemo and radiation

By October of 2016, she had developed another tumor and had to undergo radiation therapy - wearing this mask to protect her and hold her still - for a second time. Here, she gives 

By October of 2016, she had developed another tumor and had to undergo radiation therapy - wearing this mask to protect her and hold her still - for a second time. Here, she gives 

By October of 2016, she had developed another tumor and had to undergo radiation therapy – wearing this mask to protect her and hold her still – for a second time. Here, she gives 

Dr Boockvar and the Lennox Hill team studied her unusual tumor intently once it was removed, and, one month after her surgery, they revealed to Rose just how unique the monstrous mass they’d taken from her head was.

The tumor was SMARCB1 (INI-1) gene deficient, meaning that the mass was composed entirely of a cells that were missing a critical gene that would identify and help to stop cancer cells from duplicating.

Since the tumor was missing the gene, so was ‘every cell in my body,’ Rose explains.

Scientists only discovered this deficiency condition in 2014 – one year before Rose was diagnosed with cancer for the first time. She was only the twelfth person doctors had identified as having the condition.

There has to be a cure for this

Rose Yarusskaya, on her intent to beat cancer a third time

After her surgery, Rose was blasted with radiation and chemotherapy. The latter ‘was killer. I couldn’t walk to the bathroom, I had to crawl. I was vomiting and nauseous. I was green. You could look at my skin and see that you were looking at a sick person, I looked like death,’ she recalls.

Following four hellish months of treatment, Rose went back to work and planned her family’s move summer move to Florida, with assurances from her doctors that, even with her gene deficiency, her tumor had been well-contained when they removed it and the cancer was unlikely to have spread or to come back.

But it did, in October of 2016. Rose had ‘the exact same tumor, just sitting there’ right behind her eye.

It was back through the cycle again for Rose: surgery, chemo, radiation, back to work, completing the move to Florida, ‘everything was fine,’ and then, cancer, again. 

Another tumor cropped up behind Rose’s ear in December of 2017, barely a year after her last diagnosis.

This time, she scheduled the surgery, but Rose was done with chemo and radiation.

The chemo, she felt, ‘was not helping and the radiation I had three times in three years is not good either – on the head, on the brain!’

After her second brutal chemotherapy treatment in 2016, Rose's hair all fell out and she went completely bald. Finally it has come back, but is still far shorter than before she got cancer 

After her second brutal chemotherapy treatment in 2016, Rose's hair all fell out and she went completely bald. Finally it has come back, but is still far shorter than before she got cancer 

After her second brutal chemotherapy treatment in 2016, Rose’s hair all fell out and she went completely bald. Finally it has come back, but is still far shorter than before she got cancer 

Through a Facebook group of doctors who are also mothers, Rose’s story and rare tumor-fueling genetic condition fell into the hands of Dr Gary Schwartz, chief of Columbia University’s hematology/oncology division.

Dr Schwartz was quietly recruiting patients for a clinical trial to treat patients with SMARCB1 (INI-1) gene deficiency. The first time Rose went to meet Dr Schwartz, ‘the first words he said to me were: ‘You’re the patient we’re looking for,’ she says.

Rose didn’t want to jump on the bandwagon without the go-ahead from her trusted physician, Dr Consantino, so she had Dr Schwartz talk to him.

In no time at all, everyone was in agreement. Rose’s surgery was cancelled, her doctors were ‘extremely optimistic that it will work,’ she says.

The drug, tazemetostat, is currently being tested in a number of clinical trials to treat various kinds of cancers.

She now takes two oral capsules twice a day, which are meant to ‘target all those genes that become deficient and change their pathways to reverse the process when the gene becomes deficient,’ Rose explains. 

Rose started the trial in January, and flies back and forth between Florida (where she is now) and New York where she regularly sees her trusted team of doctors and participates in the trial. 

She will have her first scans since starting tazemetostat in March. She is eager to see the results, and hopes it will be cause for celebraion. 

In the meantime, ‘I always smile and laugh, and no one would know’ that she is sick, Rose says.

‘I want life! I promised myself I’d live as long as my grandmother is living (she’s 89), but in a happier spirit. 

‘I’ve beaten cancer twice, this is the third time, and hopefully I will beat it. There has to be a cure for this,’ she says, confidently.  

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