The days were passing faster than she anticipated, Karen commented, as she checked off another radiation therapy session on a specially designed “calendar” posted on the wall in her office.  The tick marks had mounted up and she could count the treatment days left on one hand.

“This has been an astonishing experience,” Karen said.  “First of all, the technology is amazing...simply amazing.  And then, there is the human factor.  I went into the waiting room that first day as a complete novice, a stranger to the facility and to the treatment I would undergo. Now, I’m the seasoned veteran who tries to make it easier for the new people in the waiting room. I was almost surprised at how subtle the transition was.”

“It’s strange, the things you think about.  The interpersonal dynamics of a medical waiting room would never have even entered my mind six months ago; I’d never really been in one.  And now the interaction with the staff and seeing the same people day after day as we come and go for our appointments has become something of a ritual.  Sometimes we talk and reassure each other, other times we just sit in companionable silence, waiting until its our turn.  But, there’s a camaraderie there...a tangible, almost palpable bond with the others who are going through what you are.”

“One thing that became apparent early on,” Karen reported, “was that I really was one of the lucky ones.  My cancer was found at an early stage and, with the radiation almost behind me and based on what my doctors tell me, I believe the worst is over.  Others who come in for treatments aren’t so fortunate.  Many have had chemotherapy, and sometimes I can see the tiny, feather-like lines of pain etched around their eyes and mouths -- something I wouldn’t even have noticed before this.  I feel almost guilty that I seem to be doing better than they are.  I know that sounds strange -- to feel bad because I’m not sicker than I am -- but I’m told this reaction is not uncommon, either.”

“Cancer, I am learning, is like a very private, exclusive club.  It pointedly excludes people who haven’t been there, and you are constantly reminded that the dues are really high to get in.  The members don’t need to be told to support the others, they just do it automatically.  The C-club is a jealous master, it intrudes into everything you think or do, and demands that you measure time into what happened before membership...and after.” 

“While I have not experienced it myself, I am told that some people actually think that membership in this club somehow alters you, and this perception makes some folks wary of being too close to you.  Sounds bizarre, doesn’t it, like one of those urban myths that couldn’t possibly be true.  I heard a story about a woman who was actually afraid to hug her own daughter -- who had breast cancer that was caught too late to cure -- but she couldn’t explain why.  Others have complained that friends and co-workers have treated them ‘differently’ after they were initiated into the club.  I understand that some people just don’t know what to say when a friend or loved one is diagnosed with cancer.  But, I’m sure they would be surprised to know that, to a person who is still reeling with the news themselves, any perceived hesitancy or avoidance from a friend or loved one might be interpreted as rejection.  You are riding an emotional roller coaster at this time and your feelings are easily hurt.”

“There’s another thing, while we’re on the subject of feelings.  All of us, at one time or another, has marveled at the ‘strength’ of someone who has cancer, or been in awe of the way someone ‘handled’ it.  I guess we’d all like to think that we would be strong or brave if we ever had to deal with this nasty disease.  But, you know what?” Karen asked rhetorically.  “You have absolutely no idea how you would react if ‘it’ did, in fact, happen to you.  Nothing in your life prepares you for those terrible words...you have cancer.  And, you hope that no one you know or care about ever has to hear them.”

“Back to feelings.... During one of my visits with my surgeon, I broke down and just cried.  I was so embarrassed, I actually thought I was letting him down by not sucking it up.  But, you know what, he just gave me a big hug, and chided me, ‘You may work with tough cops, but you don’t always have to be one.  Let it go...it’s all right to cry.’  Once I had ‘permission’ to cry, I didn’t have to any more.”

“One of the things people ‘do’ -- unintentionally, I am sure -- is deny a cancer patient’s reality.  Some people seem to be so afraid of hearing how you are really doing, or maybe it’s just that they want to be so reassuring and positive that they don’t let you tell them the truth.  Let’s face it...cancer scares people.  There’s always the niggling little fear in the back of their minds that, there but for the grace of God...you know. Again, I’m one of the lucky ones, and I have certainly drawn strength and comfort from my friends, family and co-workers.  I have a new sense of awareness now about the trouble people seem to have in talking about this disease and know that sometimes it just gets in the way of good communication.  Unfortunately, that’s one of the things that a cancer patient needs most -- to be able to talk openly when they want to about their fears and how they feel.”

Communication is critical...
 

“I remember that it was another communications issue that really hit me hard after I was diagnosed, and that was telling my daughters that I had breast cancer.  I promise you, that was the most difficult thing I have ever had to do in my life.  My emotions were all snarled up together...I felt guilty that something alien in my body could somehow threaten them and my grandchildren.

“I don’t think anything replaces the opportunity to talk one-on-one with an expert when something really concerns you,” Karen said, “and I wanted the best information I could get about the risk the girls faced for getting breast cancer, too.  I asked my daughters to come with me to the meeting so we could all get our questions answered.  My emotions were still a little bit raw that evening, and I know I was nervous about what I might learn, but now -- looking back -- I credit that program with enabling me to relax a little and get on with fighting the disease.”

The featured speaker at the forum -- Katherine M. Thompson, M.D., medical director at the Center for Medical Genetics in Houston -- took a very complicated subject and translated it into lay-language. 
 

“I know that virtually everyone has heard about the wonders of DNA,” Karen said, “but Dr. Thompson really made it understandable.  I think I was holding my breath as she took us through the basic building blocks of life as we know it, and didn’t really breathe normally until she said that only about 7 percent of breast and 10 percent of ovarian cancers are caused by inherited gene mutations.  Whoosh!  I could just feel the weight lifting off my chest.”

Its In Our Genes...

Since scientists discovered the gene for cystic fibrosis in 1989, more than a thousand genes that are related to human diseases have been identified.  Today, there are commercial tests available that isolate mutations on about 20 of these genes, and the whole field of what is being referred to as “new genetics” has been born. 

“We have one foot in the research world,” explained Dr. Thompson, “and one foot in the clinical world where we are translating what we discover in research into understandable, useable applications.  We can already see that genetic screening will become an integral part of the practice of medicine, in everything from routine obstetric and neonatal care to determining risks for heart disease and cancers in adults.  While genetic testing requires nothing of the patient but a blood sample, the process is incredibly complex -- for the technicians who perform the tedious work in the laboratory as well as for the person being tested and their family members.”

“Before the testing is undertaken, highly trained genetic counselors explain the science of testing and help patients decide if this is information they really want.  And, they discuss what they will do with the results.  This is not as cut and dried as it might appear,” Thompson explained.  “Testing should not be done without considering the possible responses if the results are negative and if they are positive.  The impact of the information on other family members must be considered, as well, unlike medical tests that apply only to an individual.”

The doctor pointed out that there are some emotional consequences attached to knowing that you face a high risk for a potentially deadly disease, or you don’t.  There is a response known as survivor guilt, for example, where a person does not have a mutated gene, but a sibling does.  In other cases, Thompson said, some people have actually been so sure that they will inherit a parent’s disease that they live their lives accordingly.  It can also be a huge shock to find that you’re not going to get the disease.  These people have to rethink their whole life, too. 

On the other hand, the testing allows people to make rational choices on how to care for themselves.  When there are a lot of cases of cancer in a family, the results can help siblings to make choices based on hard data instead of fear.  It does create a whole new category of patients, however: people who are healthy, who don’t have cancer, who may not ever get cancer, but who have something in their genes that puts them at risk for getting cancer.  The combination of counseling and information can empower them in planning for the future and, although doctors do not know how to prevent breast and ovarian cancer, there are preventive measures that can be taken.  The doctor may recommend earlier mammograms, for example, and more frequent breast exams to detect any abnormality at an early stage when it has the best chance of a cure.  For women who have already been diagnosed with breast or ovarian cancer, a genetic test may help to determine if she is at risk for an additional tumor.

“Everyone is born with two copies of about 100,000 different genes,” explained Dr. Thompson.  “One copy of each gene comes from your mother, the other from your father.  Two of these genes -- BRCA1 and BRCA2 have been found to play a major role in breast and ovarian cancers.  Normally, these genes help to prevent cancer by making proteins that keep cells from growing abnormally.  But if one is altered,  it can no longer suppress cell division and the risk of cancer increases significantly.  So, if one of these altered genes is inherited, a woman’s breasts and ovaries are more susceptible to the development of cancer.  Men, as well as women, can inherit and pass on the defective BRCA genes.”
“The good news is that not all women with these gene mutations develop cancer, but the risk that they will is very high.  The kinds of breast cancer that are caused by BRCA1 and BRCA2 mutations usually have an early onset.  The average age at diagnosis in women with BRCA1 mutation,” Thompson said, “is 45, compared to age 64 for other forms of breast cancer.”

To test or not to test...

BRCA sequencing analysis is not for the general public; it is designed for the people who are at high risk for hereditary breast cancer because of several factors:  three or more close relatives may have had cancer (e.g., mother, aunts and sisters); the disease struck family members at an early age (often before 45); they have breast cancer in more than one generation; if they or close family members have been diagnosed with ovarian cancer; and, if the person is closely related to someone who is known to have the BRCA1 or BRCA2 mutations.  In addition, for some unknown reason, Ashkenazi Jews -- whose ancestors came from central or eastern Europe -- have a high incidence of mutation in these genes among their population.

While the inherited cases of breast cancer are traced to mutations in these two genes, even then it only occurs about half of the time, so we’re looking at a very emotional numbers game.  Only about 5 percent of all breast cancers are inherited, so that means that roughly 95 percent are nonhereditary and from causes unknown.  To make the issue even more confusing, breast cancer -- and especially the late onset kind -- may occur merely by chance in your mother or an aunt.  In fact, with more than 180,000 cases of breast cancer diagnosed each year, this random breast cancer can strike more than one member of a family and not be hereditary. 

“This is a really hard thing to comprehend,” warned Dr. Thompson, “Even if you test negative for the defective BRCA genes, you can still get breast cancer -- just not the familial kind. Every woman has a 1 in 10 risk of breast cancer by age 80.”

As more and more tests become available to identify people at risk for various diseases, we can expect a corresponding increase in related moral, ethical and legal questions about the emerging field of new genetics.  There is a growing consensus among researchers and medical professionals that physicians will need to have access to expanded educational opportunities to meet the challenges of this new field.  The National Coalition for Health Professional Education in Genetics -- a collaborative effort by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute -- is already hard at work developing new curriculum for medical schools and continuing education.

“More issues than just the obvious ones -- parentage and risk for potentially life-threatening diseases -- are certain to emerge as more people realize how important genetics is in achieving overall health.  This promises to be an exciting and rapidly evolving field in the months and years ahead,” Dr. Thompson concluded, “and it holds a lot of promise in unlocking the secrets of diseases that have plagued us for centuries.”

Making a Difference...

Karen and her daughters became increasingly more reassured as Dr. Thompson made her presentation.  Although her Dad had died of colon cancer, there were no other cancers in Karen’s immediate family and they really weren’t candidates for genetic testing as the doctor outlined the criteria.   As soon as she learned of the diagnosis, however, Karen’s older sister went for a mammogram for reassurance.

Karen said she held up very well during the radiation therapy.  “Dr. Sands was amazed, I think, that I continued to take my daily walk.  The Constable and I have been walking every morning for 15 years and after logging 10,750 miles, I couldn’t see any reason to change that.  The exercise really contributed to my positive attitude and to feeling good for these five weeks and three days.  It has only been the last week or so that I’ve cut back the distance from three miles to two.”

Karen says now that even though the radiation treatments are over, she is not entirely back to normal...whatever that is.

“In my mind, I am still at war with this disease.  I’m not really thinking in the past tense, yet.  Actually, I feel a little let down,” Karen explained, “and, for the first time, I’m tired.  My body is telling me to take it a little easier.  That feeling hit me just the day before the last treatment.  I have been so focused on the fight, you know, going for treatment every day -- and planning my work day around it -- that now it’s behind me, I don’t feel like I’m doing anything to keep the cancer from coming back.  I don’t expect to get paranoid or become a hypochondriac, but I suspect that I will worry about what the future holds.” 

“It’s just that the safety net that surrounded me during the treatment is gone, and now I will have to find something else that will give me that same sense of comfort and security.  I know that at some point I will be back in control again, and that’s high up on my list of priorities...something to work for.”

“It’s time for my annual mammogram, so that’s coming up, and I have follow up visits with Dr. Leggett and my oncologist, as well.  But, I’m ready now to get involved more actively in helping others learn about and deal with this disease.  When I started talking about my breast cancer, I had it in mind that it would help others.  I really had no idea that the story and publicity would generate so much help, support and encouragement for me, as well.  A friend who is a breast cancer survivor and I are going to work together -- we’re looking for just the right opportunity -- to get involved in a breast cancer awareness effort.  I know that keeping busy and helping women to fight this potentially deadly disease will help keep us focused on the future and staying healthy ourselves.”

As everyone who knows and loves Karen Moore will tell you, in this new endeavor, too, she is bound to make a difference...she simply doesn’t know any other way to live.