Photo credit: Lel4nd / Foter.com / CC BY

This post has probably been a long time coming; I have just been avoiding it because it forces me to confront a reality that I don’t like to relive. The fact that the one person who believed in me even when I did not believe in myself, is not here to share in these major milestones of my life. The person to whom I refer is my grandfather, James Audley Wilberforce Carey Sr. Lately, I’ve been thinking about where my life would be without this man and the role he played in my life, and the endless possibilities are increasingly disparaging. As an adolescent I admittedly was full of rage, and lost in a sea of anger. Call it traditional youthful rebellion, call it adolescent anger or just call me an idiot, take your pic but not unlike most teenage boys I often let my anger consume my entire existence and would lash out at those around me. As a result I was suspended for fighting in high school three different times and was on the verge of expulsion. Looking back at it now, I could not tell you why I was so angry, or why a relatively intelligent young man would constantly put his future in jeopardy over idiotic arguments. But what I can tell you is that, if it were not for my grandfather, I would never have overcame my issues with anger. Understanding the breadth of my actions and how they affected the person I cherished most in this world altered my perspective. It was just jolting enough for me to give pause and really examine my actions in reference to my past, my present and the probable future within my current trajectory.

           

Have you ever had someone believe in you even more than you believe in yourself? For those of you who have, you’ll understand that it’s the most invigorating feeling one can have. I am sure its similar to the pride a father feels when his son thinks he is superman. My grandfather was a simple, humble man. He did not stand very tall, and was not someone of extreme wealth but what he lacked in stature he proficiently supplemented for with character. As a scientist now fulfilling my passion, I am eternally indebted for the role my grandfather played in this natural progression of my career path. He cultivated my curiosity, a fundamental trait in my role as a research scientist. As a child with a natural curiosity, he spent countless hours answering every question I could muster, promoting adventures into understanding and educating my young mind on the ways of the world.

           

The climax of the relationship with my grandfather came when I set off for college. As a young 17-year-old boy from the small islands of the Bahamas, with not a lot of worldly experience, setting forth in the world to attend University in the USA, was a daunting challenge. I knew that I had goals in life; at that time I wanted to become a medical doctor and knew that the journey began with college far away from home. A few days before I set forth on my journey (A journey that I seem to still be traveling) to Ohio (God only knows why Ohio), my grandfather sat me down and told me firstly that he was proud of me, secondly he believes in me, and that he expects great things from me. As a man of not many words I knew exactly what he meant, his affirmation of expected greatness was not an overzealous expectation for me to become the next Rhodes Scholar, but I knew that what he was telling me was that if I lived up to my potential then I could become whatever I desire. That was his version of greatness, having the strength to pursue my own desire. Which I now view as a simplistic, but profound outlook on the essence of greatness.

           

At this point in my life I was wholly uncertain of myself, and my own capabilities. I constantly doubted myself about whether or not I would complete my goal of becoming a physician or even just completing my undergraduate degree. But through out the years I have always looked back to that moment, and I have reflected on my grandfather’s belief in me. Honestly, it is that same belief that has helped to guide me through undergrad, graduate school and still drives me today as I undergo postgraduate training. Having someone believe in you beyond your own belief in yourself is a very powerful feeling, it can make you achieve accomplishments you did not phantom to attain. Lately I find myself reflecting on this belief, and wondering where would I be without the people who believed in me. Honestly it is not an easy answer, but that feeling of overwhelming support has helped guide me through the highs and lows of this roller coaster we call life.

           

But having something or someone to believe in is a fundamental aspect of human culture isn’t it? Religions, all religions, are based upon the ideology of Faith and believing in a higher power/purpose. Faith alone is a powerful emotion that has been described as fulfilling, revitalizing or even overwhelming. At the core of faithful living is the power of believing in something you can not see, hear or touch and believing it has a power that you can not control and do not understand but exists. At its core values faith is believing in the unbelievable.

           

Additionally, we are constantly confronted with the life affirming power of overwhelming belief every day. Avid sports fans channel this belief system through their favorite teams when believing that their support for their teams, no matter how far away, has a direct impact on the play and outcome of the game. Most athletes would tell you that when their fans are cheering them on they feel the energy transform them. They can feel the support that pushes them to levels beyond their own belief. And just like the power of having someone believe in you is transformative, the power of having someone or something to believe in can be just as impactful. As human beings it is no secret that we crave a higher purpose, this is why countless religions have existed since man began walking the earth. Countless Gods, countless religions, but all require one thing, faith. If you take a human being, and sequester them away from society/civilization and allow them to grow in isolation when you come back many years later they will have formed a belief system/religion stressing the need of human beings to crave something to believe in.

Now I know you are wondering how as a scientist, can you tout the powers of faith and believing when you search to de mystify most spiritual encounters. However, I argue that science in itself requires a powerful belief system. Over the past several centuries science has evolved to a level where we understand more things about human evolution than ever before. However, if you look back to the early scientists, they required a strong belief system in order to make the marquee discoveries of their day. One example is Edison and electricity, an invisible force that at the time could not be quantified however he was able to harness it into the light bulb. Albert Einstein believed whole-heartedly in the existence of gravity and the laws that bound its existence even without direct evidence. As a scientist it takes a strong belief system to pursue the unknown, to believe that you can prove what no one else has shown before, in essence science requires faith.

As human beings we spend a lot of time and energy, challenging one another’s belief system and attempting to debunk one belief over another (i.e. Which religion is the right religion, is one God/denomination the right one). But I challenge you to believe, not in the unknown or unseen but to believe in someone who is important in your life. Whether it is a family, friend or stranger, believe that they have the capacity to achieve that which they doubt. Life is full of non-believers (i.e. haters), but by my estimates having one person believe in you is enough to battle one thousand haters.

And although my grandfather is no longer walking this earthly plane I can still feel the power of his belief in me surging through my veins on a daily basis and for that I am eternally grateful. I can only hope to impart a similar affirmation on to my loved ones.

Dedicated to James Audley Wilberforce Carey Sr.  thanks for helping me become the man I am today

Photo credit: phalinn / Foter / CC BY

Women undergoing breast cancer treatment face incredible social and psychological stress regarding cancer treatment. A study published in the journal CANCER by the American Cancer Society indicates why it is important for women to have a support team while undergoing cancer treatment. This study suggests that women, particularly African Americans are more likely to experience functional disability or the need for assistance with daily activities of daily living such as bathing, dressing, toilette, feeding, shopping etc.

Dr. Cynthia Owusu, of Case Western Reserve University School of Medicine and University Hospitals Case Medical Center in Cleveland sought to determine the racial differences in functional disability among older women newly diagnosed with breast cancer. This study revealed that African American women were four times more likely to have functional disability compared to Non-Hispanic White women. These studies suggest that African American women may be more likely to experience persistent functional decline after treatment further worsening their survival outcomes.

 Cancer treatment is a multidisciplinary approach. Over the course of diagnosis a patient may have several doctors; family doctor, radiologist, general surgeon, breast surgeon, surgical oncologist, plastic surgeon, pathologist, medical oncologist, oncology nurse practitioner, oncology nurse, radiation oncologist, radiation oncology nurse, and social worker. And as in the hospital, care is permitted through a team of doctors, nurses, technicians and administrators, the at home aspect of cancer is just as integral to overall recovery. Having a caring support team promotes a positive atmosphere for healing.

It’s a pretty tall order to say that you want to determine the risk of developing breast/ovarian cancer in an entire population, much less a third world population. But that’s exactly what one country is doing, the Bahamas. A pilot study in 2010 by a group of physicians revealed that women in the Bahamas have the highest recorded risk of developing hereditary breast cancer. Approximately 24% of women diagnosed with breast or ovarian cancer, in the Bahamas, were due to an inherited mutation within the genes BRCA1 & BRCA2. This was the highest recorded frequency of BRCA mutations, with the second closest demographic population being women of Ashkenazi Jewish descent(11%).  This study derived from the observation that the average age of diagnosis for women with breast cancer was 42 years old. Breast cancer as a disease, is an age-associated infliction, with the median age of diagnosis in the US at 61 year of age. The early onset of breast cancer within the Bahamian population suggested a genetic component, something inherited within the bloodlines. Mutations within the BRCA genes became the primary suspect.

Global Incidence of Breast cancer by Age

From this study developed a consortium of Physicians, scientists, government officials and advocates who sought to provide further understanding of the frequency of these mutations within the Bahamian population. Although inherited BRCA mutations cannot be prevented from being passed on to future generations, their risk of causing cancer can be minimized with great efficacy though surgical intervention or aggressive surveillance. Therefore, the Bahamas Breast Cancer Initiative Foundation (BBCIF) was developed to further understand the overall risk of breast cancer within the entire Bahamian population, and provide genetic counseling for women with the inherited forms of the mutation. Through government funding, community fund raising and generous assistance from the Komen foundation, women in the Bahamas have gained tremendous insight into their BRCA status. Presently in the Bahamas, every woman who wants it is able to receive genetic testing and counseling for mutations within the BRCA genes to determine their relative risk for breast cancer.

The initial 2 year goal of the BBCIF foundation is to test over 2,400 women for mutations within the BRCA genes, with the hope of testing every woman in the Bahamas. Over 90% of the mutations found within the Bahamian population are of a specific type (IVS13-1G>A), known as an African founder mutation. The fact that this mutation has been previously associated with African American women and women from the African diaspora suggests that this mutation may have been inherited over many generations. This research is set to have significant impact for the population of the Bahamas but may also set a global standard for cancer prevention. It is conceivable that the Bahamian population may serve as a microcosm for the Afro-Caribbean, African American & women residing in Africa. Previously, hereditary breast cancer genetic testing was limited to families with an elevated cancer incidence history. Until now this has been a direct result of the exorbitant cost associated with genetic testing partially due to patents limiting competition. With a recent ruling by the US Supreme Court nullifying patents over human genes, the future of genetic testing looks promising. Hereditary breast cancer mutation analysis is poised to become a standard practice, and may become as commonplace as blood typing. The Bahamas and the BBCIF are setting a trend, and their work will have significant impact on the global epidemic that is Breast cancer.

Do you know your risk?

Photo credit: shewatchedthesky / Foter / CC BY-NC-ND

Earlier this year, Angelina Jolie shocked the world when she revealed that she had undergone surgery to remove both her breast and have reconstructive surgery because of a positive BRCA test. In June the US Supreme Court ruled it was illegal to patent a gene as a direct result of the BRCA test debacle. Over the past year a lot of fuss has been made about the term BRCA test, but exactly what does it mean? The media in general can be a bit misleading when equating a BRCA test to the equivalent of other diagnostic test such as HIV or tuberculosis tests. A positive BRCA test does not mean you have cancer, neither does it mean you have contracted a foreign disease, known as BRCA. Truth be told, BRCA is an essential part of all of us, man woman and child, and plays a very important role in all of our bodies not only in the fight against cancer but as a function of the body’s ability to repair DNA damage.

Believe it or not, we live in a world that is constantly causing us harm. However, the human body is magnificently resilient and repairs this constant damage inflicted upon us every day of our lives. Just like the body is able to repair a wound when you are cut, so can the body repair the microscopic damage caused daily by our environment. One of the most common examples of daily DNA damage is as a result of UV radiation, the sun. As the harmful UV rays destroy our skin, it can mutate the cells within our skin causing repairable harm. Two of the genes responsible for repairing this damage are BRCA1 & BRCA2. These genes play a crucial role in finding and repairing damaged DNA within our bodies, in order to prevent the cells in our body from multiplying with this DNA damage in tact, leading to catastrophic chaos.

Although these genes play a crucial role in repairing DNA damage throughout the body, it was discovered early on that mutations within these genes are frequently found in women with breast and ovarian cancer at a young age. These common mutations that have been discovered in cancer patients, founder mutations, prevent these genes from binding to DNA in order to repair damage being caused in the body. Although these interactions are occurring at a microscopic level they have a significant effect on the entire human body. Exactly why mutations within BRCA1 & BRCA2 lead to breast and ovarian cancer more than any other cancer, is still somewhat a mystery to science. However, these mutations are inherited from parent to progeny and can also cause other types of cancer including prostate, stomach, pancreatic and colon cancer.

What exactly is a BRCA test? With the advancement in technology, science is readily able to detect whether individuals have mutations within these genes that disable their function. With the initial discovery of these genes, science has spent a considerable amount of time deciphering what these mutations mean, and as a result they have estimated that women with mutations within the BRCA1 & BRCA2 genes have a greater than 50% (50-85%) lifetime risk of developing breast or ovarian cancer. That is significantly higher than the overall risk of the general population, which stands at approximately 10%.  A BRCA test detects these specific mutations within women, and estimates the relative risk of developing cancer based upon the frequency of specific mutations in previous cancer patients. And as these mutations are passed down from generation to generation they often coincide with a history of cancer within a family.

The primary reason Angelina Jolie decided to undergo double mastectomy, removal of both her breasts, was not only because she tested positive for a BRCA mutation but because she also had a history of breast cancer within her family, significantly increasing her individual risk. Additionally, by undergoing radical double mastectomy she cuts her risk of developing breast cancer by 90%. Having her ovaries removed would further reduce her risk of developing ovarian cancer. However, these surgical intervention strategies possess life-altering risks and should be discussed under direct advisement of a primary physician.

One final caveat; the world has developed a heightened sense of the significance of BRCA positivity. However, in reality we still do not know everything there is to know about the genes BRCA1 & 2. There are over 500 different types of documented mutations in BRCA1 and over 300 documented mutations in BRCA2. Only small subsets of these mutations have been correlated with causing cancer, we call those founder mutations. These mutations usually congregate in specific demographic populations, with Ashkenazi Jewish women and Bahamian women being two populations with the highest frequency of BRCA mutations.

Photo credit: NCI (Over 500 different types of BRCA1 mutations)

Debated as either the curse of knowing or a preventative cure, BRCA testing has developed as our most advanced weapon in the fight to prevent breast & ovarian cancer. In families of women stricken by this disease, BRCA testing has offered the first defense in ending this curse. As the discovery of these genes is less than 25 years old, our understanding on their impact on society has dramatically evolved. Therefore, over the next 25 years we may develop a treatment strategy that makes BRCA mutation a negligible overall risk for cancer.

Until then, knowing your risk is the first step to preventing cancer.