Ricki Lewis

Five years ago today, I learned that I had breast cancer.

 

I didn't find out in the usual way, an alarmingly ambiguous phone call and then a sit-down with my doctor. The radiologist knew I saw patients in the office for genetic counseling, so while I was getting dressed after my annual mammogram, she beckoned me to her nearby office.

"Take a look at the two screens, Ricki. The left one is last year's image."

 

It didn't take training in radiology to see that something had happened since last year's mammogram. On the right screen, a small mass blocked a narrow passageway, a milk duct.

 

When the radiologist enlarged the image, the clump of cells was not only blocking the duct, but pushing against one wall. I realized instantly that if I had skipped my mammogram that year, the next year's scan would have shown invasive cancer.

 

 

To continue reading, go to DNA Science, where this post first appeared.

Many posts at DNA Science have been about families navigating life with a rare disease. I especially think of them during October, when so much attention is focused on breast cancer. One in eight women will develop breast cancer at some point in her life.

I know how important regular mammograms are – a scan late last year led to the surgery that likely saved my life. But I find my anxiety ratcheting up with the pervasive symbols and slogans, the pink apparel, labels, products, lit buildings, even garbage cans. Others in my thousands-strong closed breast cancer Facebook group are antsy too, although we don’t seem to be in the majority.

The pink October movement does a lot of good, in many ways. Still, I’ll skip the marches, for the reasons that others have posted on Facebook: I don’t need a reminder, I don’t want to be defined by an illness, and people are already aware of breast cancer. Instead here are a few other worthy causes that have awareness campaigns in October, not all of the conditions rare.

To continue reading go to DNA Science, my blog at Public Library of Science, where this post first appeared. Read More 

“DCIS isn’t really cancer. You have nothing to worry about,” said my oncologist confidently.

“Then why am I having a mastectomy in four days?” I blurted.

“DCIS doesn’t spread. So it isn’t cancer.”

“But the “c” stands for carcinoma, a cancer of epithelial tissue. How is that not cancer?” I asked.

“DCIS. Can’t. Spread.”

Case closed. But I knew what he meant. Ductal carcinoma in situ isn’t cancer, some say, because “in situ” means “in place,” and invading healthy tissue is one of the nine characteristics of cancer I’ve listed for years in my textbooks. Eight out of nine was enough to convince me that Hannibal had to go.

Why name my DCIS? Read More 

News that consumers will soon be able to purchase a genetic test for three BRCA mutations may seem like déjà vu. That's because it is.

This is the second time that direct-to-consumer genetic-testing company 23andMe has offered screening for the mutations linked to breast cancer. The difference now from when it was yanked off the market in 2013? FDA approval.

That's huge. Read More 

Two months ago, I joined a club nobody wants to be a member of – the 1 in 8 women who develop breast cancer at some point in their lifetimes. It turned up on a routine mammogram.

I’m happy that it’s okay these days to talk about breast cancer – when my mom first had it in 1988, that wasn’t true. I haven’t thought much yet about marching and holding a sign next October for Breast Cancer Awareness month. I don’t have the strength to hold a sign right now, but I’m trying to help by explaining things on the Facebook groups of “pink sisters” I’ve joined recently. Many of their questions concern genetic testing.  Read More 

The news release Monday morning grabbed my attention:

“Study finds wide gap in quality ofBRCA1/2variant classification between Myriad Genetics and a common public database.”

Myriad Genetics had been exclusively providing the tests, for $3000+ a pop for full BRCA gene sequencing, for 17 years before the Supreme Court invalidated key gene patents back in 2013. Since the ruling a dozen or so competitors have been offering the tests for much lower prices. Meanwhile, Myriad has amassed a far deeper database than anyone else, having been in the business so much longer. And it’s proprietary. Read More 

As enthusiasm for dumping ice on one another fades with autumn and October brings pervasive pink, I wish that attention would turn to families confronting diseases not as well known as ALS and breast cancer.

HOW RARE IS RARE?
According to the National Organization for Rare Disorders, “rare disease” in the U.S. means affecting fewer than 200,000 people. These conditions number about 6,800, collectively affecting nearly 30 million Americans or 1 in 10 people.

Many are single-gene diseases. That means that the chance of more than one family member being affected is quite high (see Mendel's first law). Unlike those, most (>90%) cases of ALS and breast cancer aren’t inherited as single-gene traits, but are sporadic. Mutations happen during a person’s lifetime in somatic cells, perhaps due to an environmental trigger. A family with one member who has ALS wouldn't have as great a chance as it affecting another as a family with Huntington disease, for example.

With so many causes of rare diseases, comparing statistics is an apples-and-oranges exercise. But I collected a few anyway, for prevalence (the percentage of a population with a particular disease at a given time). Read More 

In the usual trajectory of passing on genetic information, the older tell the younger, when the time is right. Typically, a patient has a genetic test because family history, ethnic group, or some other clue suggests to an astute practitioner an increased risk of something specific.

If a test reveals a mutation that could cause a disease, then the patient and perhaps her partner discuss how, when and what to tell their children – in the best of circumstances, with the help of a genetic counselor. Read More 

“Are you still collecting stories about DTC testing? I've got one for you!” my grad student L.W. e-mailed a few days ago. Little did I know her family's experience would change my mind about direct-to-consumer genetic testing.

L.W. had taken my online course “Genethics” in 2008 for the master’s program at the Alden March Bioethics Institute of Albany Medical College. Read More