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I am finding that more and more of my patients believe that what they read on a website is the absolute truth. The problem is that while the internet has great resources for just about anything, it’s important to take everything you read with a grain of salt. Often people who have had bad experiences write about them for the public to read; facts are misconstrued and blame is placed on the wrong people.
My husband, who recently broke his kneecap and had obsessively googled for information about this injury, went to his orthopedist and asked him why he was choosing a particular method of treatment over another one. The doctor replied, “What do you do for a living?” He said, “I practice immigration law.” The doctor responded, “ And I am not pretending that I do.”
I encourage you to do research and keep up with what’s new in medicine and genetics. Your providers will appreciate having an interested patient! However, I urge you to be careful and to get your information from trustworthy websites. Don’t take what you read from disgruntled parents and patients seriously. Each case is different and while some people might have had bad experiences, it does not mean that you will too.
Here are some great (and reputable!) resources:
When it comes to social media, I now believe you have to take the bad with the good. As I have written in the past, there are so many ‘evils’ to the constant posting and the dangers of taking everything you read as truth. However, I have come to appreciate just how much can be accomplished in just 140 characters or less.
Take Tess Bigelow, an adorable six year old girl, who was found to have a rare mutation in the USP7 gene. As there are only 7 others in the world known to have this mutation, which causes severe developmental delays and skeletal problems, there still is no clear understanding of the disease and how to treat its symptoms. Tess’ parents set up a website dedicated to “help us find others like Tess” and shared it on Twitter and Facebook. Within 24 hours, researchers at Baylor College of Medicine had gotten a hold of the Bigelows and now Tess is included in their lab’s research endeavors. Baylor even asked the Bigelows to continue to use social media to seek out other families and has already located two more kids with a mutation.
And then there is Eye on Ayelet, the social media platform that was created by little Ayelet Galena’s parents when she was battling a rare blood disorder. Ayelet’s only hope for survival was to have a successful bone marrow transplant and a donor was needed. In recounting their story in a local Jewish magazine, Ayelet’s dad wrote, “When we checked the registry, there were no perfect matches in the system. We needed to search. And the best way to do that was to go public. Publish our pain.” With the help of Gift of Life and the Galenas’ relentless search for a match, thousands of potential donors swabbed their cheeks in hope that they might be able to be a match. Though I can’t find a recent statistic, I read that as of 2013, 60 matches within this registry have been made through donors who had registered because of Ayelet.
Aside from using social media to seek out treatment, I have personally found social media to be helpful in supporting those with medical conditions. I recently joined a Facebook group for mothers of kids with the birth defect club foot (which my son had at birth). There are daily posts asking for advice about how to speak with doctors, questions about products to recommend, and photos asking the other moms “is this normal?” I find this group to be extremely helpful and wish I had known about it when my son had started his journey. Like Clubfoot Mammas, there are thousands of similar groups dedicated to just about every condition you can think of.
And finally, when recruiting participants for our BRCAcommunity initative, offering subsidized BRCA testing for Ashkenazi Jews without significant family histories of BRCA-related cancers, we have found that one of the most common sources of enrollment has been through word of mouth, mostly through social media. Imagine how many people would not have had access to the testing they wanted had social media not existed!
So next time you are scrolling through your college roommate’s honeymoon pictures, try to pay close attention to the less exciting stuff that may pop up. Who knows? Maybe you can help save someone’s life along the way-or at least learn something new!
A lawsuit is now in action about a boy who was kicked out of his Palo Alto, California middle school because he is a carrier of cystic fibrosis (CF). The basis for this was that there were other families in the school whose kids are affected with that disease. The parents of the kids with CF claimed that carriers of CF are at increased risk of ‘contaminating’ their children by exposing them to serious infections. The carrier boy’s parents are suing the school district for genetic discrimination.
There are many strange things about this story and I would like to bring them up and try to make sense of this.
- The parents of the kids with the disease CF claimed that carriers of CF are at increased risk of ‘contaminating’ their children. This is not true at all. Let me start by reminding you what it means to be a carrier of an autosomal recessive condition. CF is common in all populations and is recessive, like the other diseases we recommend testing our Jewish patients for prior to a pregnancy. In all autosomal recessive diseases, carriers (those with one working and one non-working copy of the gene) do not exhibit any symptoms of that disease. Some studies are finding that carriers of certain diseases are at increased risk for other, unrelated medical issues, but I can not think of a single example of a carrier having any symptoms of the disease for which they are a carrier. The only concern for a carrier is if his/her reproductive partner is also a carrier of the same condition, in which case, there is a 25% chance that each of their children will be affected with the disease. It is important to note that there is a form of CF caused by milder mutations called “non-classic CF”, which is generally milder than the classic CF and may also include male infertility as a symptom; this type of CF may be mistaken for carrier-status, but they are not the same. True carriers are asymptomatic. And, one who is a carrier is not contagious (however, there definitely are grounds for separating people with certain genetic conditions who are more prone to getting serious infections and spreading them to others with the same condition).
- Were his parents required to share this kind of information (e.g., their son’s carrier status) with the school? No, it is not important to share this kind of information because it does not affect the health of the child—or anyone in contact with the child. I do not know why the mother disclosed this information since carrier status is not life-threatening like a nut-allergy or diabetes might be and it is not contagious like head lice or Fifth’s disease. In addition, being a carrier shouldn’t be considered a stigma. In fact, now that we are recommending carrier screening for our Jewish patients for nearly 100 diseases, we are finding that greater than 1 in 2 people are carriers. How could being a carrier be a stigma with so many people in that category!?
- So why was the information shared? Genetic results can easily get into the wrong hands, and we must watch out for ourselves. According the lawsuit, the student’s mother had claimed that she disclosed the information on the school’s medical form and that this information was shared with the parents of the affected children. This case is an interesting one because it raises a broader issue of WHO should be seeing genetic information and HOW this information should be used appropriately. Chani wrote a really great piece about GINA, the one law that does protect those with genetic conditions from certain types of discrimination. Hopefully there will be further legislation in this realm, but in the meantime, be careful about disclosing medical information. Genetic results can easily get into the wrong hands, and we must watch out for ourselves.
- We should be protecting the sick from dangerous and infectious situations, but at the same time, we must not forget to do our research first and learn about a topic before making assumptions. While I do not know all the details of this case, I can say that in general, we should take it upon ourselves to learn before we react.
While this incident was very unfortunate for this boy and his parents, I hope that we can learn some lessons from it. Carriers of recessive diseases should be careful in disclosing this information and should only be concerned if their reproductive partner is a carrier of the same condition. Therefore, it is recommended that carriers reveal their status to potential partners and blood relatives as well. There is no reason to disclose this kind of information to anyone else since there is nothing to hide. (NOTE: Being a carrier of autosomal dominant conditions—in which having one mutation predisposes you or might even guarantee a disease in the carrier him or herself– is a whole other story, but let’s save that for another blog)
Guest Blogger, Allison Grant, reflects on the difficult decisions patients face following the identification of a BRCA mutation.
In the middle of January I began watching, or as I will shamelessly admit, re-watching, the television series, Grey’s Anatomy. After being wooed by the drama and attractive doctors during my first time watching, I was able to focus more on the “medicine” and on medical ethics the second time around. To my surprise and delight, an episode in season two, Let It Be, closely followed the case of a woman named Savvy who was found to carry a BRCA mutation. Although Savvy did not have cancer, she had seen ovarian cancer take the lives of her mother, sister, and cousin. Savvy and her husband traveled to Seattle to seek advice from their close friends and doctors, the Shepherds, and to decide whether or not to move forward with surgery. Although her husband disagreed, Savvy eventually opted to have a bilateral prophylactic mastectomy, oopherectomy, and hysterectomy (removing both breasts, ovaries, and the uterus). The decision was not made lightly, and was made only after considering all of the statistics, risks, and consulting with appropriate health care professionals, including a genetic counselor.
I applaud Shonda Rhimes for writing and producing this episode in a medically accurate way that, in my opinion, also did a great job of showcasing how a critical medical decision such as this one impacts interpersonal interactions and relationships. Different opinions, and the subsequent social and emotional interpersonal hardships that result, were presented through Savvy’s relationship with her husband, as well as with one of her doctors.
As I was watching this episode I was pained by the stress felt by Savvy, the tension that it created in her marriage, and the difficult anticipation of the life-altering surgeries she was about to endure. For a few seconds I questioned my unwavering belief that knowledge is power. If Savvy had not known about her BRCA mutation, she would not have been facing difficult decisions and these hardships (a fact that some people believe argues against genetic testing in the absence of compelling risk). But I took a step back and looked at this case from a wider perspective, and apparently so did Shonda Rhimes. Personally, I do believe that, in most situations (including this one), knowledge is power. I believe that medical education and awareness about one’s own health are critical components to leading a healthy life. To turn a blind eye when science is offering a chance to proactively enhance one’s health and life expectancy is a private choice, but one that I would argue is made out of fear and a lack of understanding of the risks that can be avoided with the benefit of crucial, and now available, medical information. This sentiment guided Savvy’s experience. After meeting with her gynecologist and genetic counselor, she became empowered to take charge of her health and made an informed decision that she felt was best. In reflecting on her decision she states, “I know what I’m losing. I get it. But think about what I’m gaining. My life. This gives me a shot.”
That is why I love my job–why I love working with professionals trained in genetics, who promote the sentiment that knowledge is power. We give people a shot.
Allison Grant is currently the study coordinator for the Program for Jewish Genetic Health‘s BRCAcommunity Study. She will be attending medical school in the fall. Learn more about BRCA testing at BRCAcommunity.com
Yesterday I made the whole team cry. Thankfully it wasn’t because I was making unreasonable requests related to productivity or deadlines. Instead, I had slotted off the morning so that we could all watch a movie together—Decoding Annie Parker (2013; we borrowed it from a local library). Without spoiling the entire plot for our readers, suffice it to say that the movie, based on actual events, follows a woman (Annie Parker) who has a strong family and then personal history of cancer. In parallel, the movie follows the decades of research by Dr. Mary-Claire King and her team on their road to discovering the BRCA1 gene.
We blog about the BRCA1 and the related BRCA2 genes regularly, but as a refresher—certain mutations in these genes lead to an increased risk to develop breast and ovarian cancer, among other cancer types. Additionally, BRCA1/2 mutations can be passed down from parents to offspring, and the chance of having a BRCA1/2 mutation is ten-fold greater in individuals of Ashkenazi Jewish descent than it is in the general population. BRCA “status” can be revealed by genetic testing, and BRCA mutation “carriers” have medical management options available to them for reducing the risk of developing cancers or for detecting cancers at a very early (and perhaps treatable) stage if they do develop.
It was my second time seeing the movie, and also my second time crying through it. But this time I also watched it with different eyes, since our Program has gotten more and more involved in the BRCA education and testing realms over the past two years. We talk and talk about the importance of knowing and discussing one’s family medical history. Even in the 1970s, before the concept of hereditary cancer predisposition syndromes existed, Annie Parker (and undoubtedly others like her) had the gut feeling that cancer was running in her family and that it was always lurking in the shadows, waiting to get her. And this caused Annie to live in constant fear and to obsess over things like breast self-exams, library searches, and diets.
In our times, we are fortunate to have the genetic knowledge about the implications of familial BRCA1/2 mutations and the ability to test for carrier status and to guide those who are identified as carriers. While being Ashkenazi Jewish is in and of itself a risk factor for carrying a BRCA mutation, this risk factor is exacerbated by having a family history of BRCA-related cancers. Under current guidelines from the National Comprehensive Cancer Network, being Ashkenazi Jewish and having a first or second degree blood relative (meaning a parent, child, sibling, grandparent, grandchild, aunt/uncle or niece/nephew) who has had breast, ovarian or pancreatic cancer at any age would warrant pursuing BRCA testing (along with genetic counseling). Many of us probably fall into that category but don’t realize what this may connote.
Getting back to the movie and all those tears—it’s been a really busy summer at the PJGH so far, and it was definitely a welcome change of pace to have “PJGH movie in the morning.” It was also really powerful and authentic have a good “group cry.” I think the whole experience reinforced our joint commitment to protecting the genetic health of the Jewish community and its future generations. But I still need to think about why the team is rallying for seeing Pitch Perfect together next.
PS The movie we saw (at work) was pretty graphic on multiple levels–consider yourselves warned…
“Can you also test me for BRCA while I am here already?” asked my 21 year old patient. He was in my office about a month before he was planning on proposing to his girlfriend. He came because he knew his sister was an FD carrier and he wanted to get screened for this condition as well as others that are common in Ashkenazim, since if both he and his partner were found to be carriers of the same disease, they would have a high risk of having an affected child (25% with each pregnancy).
I had just finished counseling him about the diseases we would be testing him for and the reproductive options for carrier couples, when he glanced at the BRCAcommunity study brochure that was lying on my desk. The cover reads: BRCA testing is right for some…Is it right for you? That was when he asked his question that many others also have asked since. “Can you also test me for BRCA while I am here already?”
Testing for BRCA is not like testing for Tay-Sachs, but I understand why the question was asked. (Note: for the remainder of this blog, I will use Tay-Sachs as the example of preconception testing, but testing is recommended for a much larger panel of diseases). We talk about how certain genetic conditions are more common in Ashkenazim. We talk about Tay-Sachs disease and BRCA-related Hereditary Breast and Ovarian Cancer (HBOC) syndrome as examples of this all the time. And we advocate for genetic testing before contemplating a pregnancy, so why not kill two birds with one stone and do it all at once?
The answer is complex and related to the differences in the conditions themselves. The first difference has to do with the nature of the diseases; that is, Tay-Sachs and the other common diseases for which we test preconception are diseases that occur in infants or young children. Some of the diseases on our panel end in early death and others progress throughout one’s lifetime, but they are all chronic diseases that burden the affected individual for the long-run. HBOC is in a different league since it is adult-onset. We don’t see BRCA-related cancers in infants or young children.
Furthermore, if a child has inherited both non working copies of the genes that cause Tay-Sachs, that child will have Tay-Sachs. However, if someone has inherited a genetic mutation in BRCA that causes HBOC, that person is at increased risk to develop a related cancer, but it is not a guarantee.
The reason we recommend carrier screening for Tay-Sachs and diseases in that category is so that couples could be made aware of their risks to have a child with a debilitating disease before they conceive or early in a pregnancy, and may make reproductive and life decisions based on their risks. Does information about adult-onset diseases—that are not even guaranteed to happen—fall into the ‘want to know before contemplating a pregnancy’ bucket?
The second difference between Tay-Sachs and HBOC has to do with inheritance patterns. Tay-Sachs is transmitted in an autosomal recessive manner; that is, carriers are not at risk of developing the disease themselves, but their offspring are at risk if both parents are carriers. HBOC is an autosomal dominant syndrome, which means that if someone carries the mutation, he or she is at increased risk to develop the disease (not just the offspring). In addition, each of his or her kids have a 50% chance of inheriting the mutation and its associated cancer risks—regardless of the other parent’s carrier status. When going to learn about your potential children’s health in a preconception genetics appointment, would you also be ready to learn about your own health risks?
My two points about the differences between Tay-Sachs and HBOC are pretty strong, and because of them, I do not know of any reproductive genetics practices offering BRCA testing in the preconception realm. The one argument that supports preconception BRCA testing is that if a couple knew that one of its members carries a mutation, this couple might consider doing pre-implantation genetic diagnosis (PGD) to select against BRCA-mutation carrying embryos when planning their families.
So while PGD is an option for BRCA carriers, we generally do not offer preconception screening for BRCA to all those of Ashkenazi descent (an exception could be someone who has a known mutation in a close family member, or someone with a strong family history of cancer). The counseling for BRCA is very different than it is for Tay-Sachs, and genetics professionals do not believe that a session about preconception carrier testing is the appropriate environment to bring it up. I wonder if our patients would agree.
Guest Blogger, Sherry Kabran, writes about her amazing new project, Tree of Life, A BRCA Conversation http://www.treeoflifebrca.org:
While in mourning, some try to cope with their emotions and loss by writing journals, going to support groups, blogging, running races, attending daily minyans, even starting cancer oriented organizations. The women in my family found their own ways to accept the loss of Carolyn Raizes Davis, mother and sister, but together we created Tree of Life: a BRCA Conversation guide for Passover, Shabbat and Rosh Chodesh.
Each guide helps Jews of Ashkenazi descent understand basic facts about hereditary cancer risks from BReast CAncer gene mutations. The highlighted message is that every family should create a family medical tree, look for red flags and consider genetic testing, if appropriate. The guides provide a Jewish setting in which to start a serious conversation that might save the 1 in 40 Jews of Ashkenazi descent, who unknowingly has a BRCA gene mutation.
This family project was our suggestion to FORCE (Facing Our Risk of Cancer Empowered) to further reach out to the Jewish community with a teaching tool. How could we not try to help? Carolyn passionately believed in teaching the community about BRCA gene mutation risks and worked closely with The Methodist Hospital doctors in Houston, Texas, to develop an educational program. Her legacy was EDUCATE anyone who will listen!
My younger sister, Francine, and I decided Passover was an ideal time to have a multi-generational discussion about gathering medical histories. We know about oranges and coffee beans on the Seder plate. How about a tree branch, to represent the importance of medical family trees? Each guide provides: an introduction to start the conversation, a BRCA branch symbol of family trees, a choice of videos, a medical history form to gather health information, Debbie Friedman’s Mi Sheberach prayer and suggestions for next steps.
Of course I googled “Passover & family histories” and found Chani’s post suggesting families do just that, at the Seder table! Her blog is incredibly informative and thought provoking. Plus, she told me to take the conversation guide idea and run with it. Thank you, Chani, for your encouragement.
The Davis/Raizes/Kabran family hopes readers will explore the guides (http://www.treeoflifebrca.org) and decide to use one during family gatherings. Please tell us about the experience. Also, help us save lives by sharing the website on Facebook and forwarding the free downloadable guides to family members, friends and community leaders (Jewish organizations are beginning to offer BRCA educational programs). Your suggestions for use of the guides and ways to publicize would be greatly appreciated.
Sherry Kabran: email@example.com
I recently came across a blog post by a friend of a friend. She was opening up about her recent diagnosis of cancer. The beginning of her blog was something along the lines of “I’ve been running from my family history of cancer for as long as I can remember. Knowing that all of these people in my family had been diagnosed, I just kept on waiting for the grim reaper to come and get me too. Now that I’ve been diagnosed, I guess I’m not running anymore…”
I’ve heard this sentiment time and time again, both from patients and from friends. People recognize that their family history of cancer plays a role in their own risk for cancer, and many people live with this shadow hanging over their heads. The waiting and the worrying, the fatalism of it all; the sentiment of ‘these people in my family died cancer, and I know I’m going to develop cancer too, and there’s nothing I’m going to do but sit, wait for it to happen, and try to put it out of my mind.’
I recognize that different people approach fears and anxieties in different ways, but this “wait and do nothing” approach drives me NUTS. If you are aware that you have a strong family history of cancer, there are many practical things that you can and should do, other than sticking your head in the sand. Some of these things might save your life.
- Have regular annual visits with your primary doctor. This might be your primary care doctor (PCP) or family medicine doctor, or even gynecologist. Do not go to a doctor only once every 5 years when there is a problem. Tell your doctor if you have a family history of any medical issues. Routine preventive care can help you catch health problems before they become serious.
- Engage in screening for the cancers that run in your family. Unfortunately, effective screening tests do not exist for certain cancers. However effective screening tests do exist for many other cancers, for example, breast cancer, colon cancer, and skin cancer, to name a few. Speak to your doctor (see #1) to find out if effective screening exists for the cancers in your family. The rule of thumb is that your cancer screening should begin 10 years earlier than the youngest case in your immediate family.
- Stay away from tobacco. Stop smoking, and avoid second hand smoke. Smoking causes cancer. And for those who already may have a hereditary risk for cancer, smoking does not help you, my friend.
- Consider meeting with a genetic counselor. A genetic counselor will review your family history and give you a sense if he or she thinks there may be a hereditary component to the cancer in your family. The genetic counselor will also discuss with you your genetic testing options. Finding out that you have a hereditary predisposition to cancer may provide you with a better plan for cancer screening, or risk reducing options, and will help identify other family members at risk of having the same issue. By engaging in genetic counseling, you are helping yourself and your relatives!
An example: If your mother, aunt, and brother all have been diagnosed with gastric cancer, you should be getting upper endoscopies annually, starting 10 years before the earliest cancer diagnosis. So you take my advice and you meet with a genetic counselor. The genetic counselor says that she thinks the cancer in your family may be caused by a rare hereditary cancer syndrome called Hereditary Diffuse Gastric Cancer. She recommends genetic testing for the CDH1 gene, and explains that if you in fact had a mutation in that gene, she would recommend that you speak with a GI specialist about having a prophylactic gastrectomy (removal of the stomach) since screening for gastric cancer has not been proven effective at identifying cancer at an early and treatable stage. ‘What???’ you say. ‘Remove my stomach? That sounds crazy! And so extreme!’
Perhaps, but this is how you continue to live a healthy life without the burden of stomach cancer looming.
Because in the end, you have two choices:
- Run away from your family history and stick your head in the sand (not my favorite).
- Turn around, face your fears, and address your cancer risk. To risk being redundant, that may be in the form of (1) finding a primary doctor and telling him or her about your family history, (2) asking your doctor to manage your screening regimen, (3) stepping up your screening regimen to be more frequent so that if you do develop cancer, you can catch it at an early and treatable stage, or (4) discussing other risk reducing strategies with your doctor to determine what makes most sense for you in light of your family history.
You do not need to die from cancer just because you have a family history of cancer. Your cancer risk exists, whether you chose to acknowledge it or not. Ignoring it does not actually make it disappear. It just takes away your ability to take any proactive steps to maximize your health and the health of your family.
Last year I blogged about the importance of updating your preconception carrier screening between pregnancies since new diseases are added to the testing panels pretty often. This is a topic I am very passionate about and always tell my patients, friends, and relatives. More recently, I started to think about the idea of “updating genetic testing” from a different perspective.
When I take family histories in a cancer genetic counseling session, my patients often tell me that a relative had cancer years ago, but he/she did genetic testing and was negative (ie- had normal results). While this information may be helpful, I often tell them that if the genetic testing was done a while ago, they may want to get more testing done since there are now better testing options in the realm of cancer genetics than there were years ago.
“Updating” in the preconception realm generally refers to adding on additional diseases to the panel, and in the cancer and pediatric realms, it can refer to repeating a test that was already done, using a different testing method with a better detection rate, or pursuing genetic testing–for different genes–that was not available at the time.
Let’s look at individuals who have strong personal or family histories of breast/ovarian cancer (“high risk”) as an example. In 1996, ‘sequencing’ (scanning the entire gene) for both BRCA1 and BRCA2 became commercially available through Myriad Genetics, the only BRCA testing lab at the time. At that time, we had already identified that there are three mutations in these genes that are more common among Ashkenazi Jews. Since about 95% of Ashkenazis who have a BRCA mutation will have one of these three mutations, genetic counselors would order ‘multisite’ testing (genetic testing for those three mutations only) for their Ashkenazi high risk patients. As research has advanced, new techniques with higher detection rates were introduced to the market. In 2002, Myriad added a new test to identify 5 large rearrangements in the BRCA genes and in 2006, they added ‘BART’ testing, which looks for large deletions and duplications throughout both genes. With each new technology applied to genetic testing in the same gene, the detection rate has gotten higher. Since then, genetics professionals have recommended that high risk Ashkenazi Jews who test negative for the three common Ashkenazi mutations complete additional genetic testing in the BRCA1 and BRCA2 genes– full sequencing and BART testing. Multisite testing is still used as the first step (and sometimes only step) of testing Ashkenazis, since it is likely that if one has a mutation, it is one of those three. And to take it a step further, high risk individuals who test negative for all known BRCA mutations are being offered genetic testing for panels of many genes known to be associated with breast/ovarian cancer.
So when my patient with a very strong family history of ovarian cancer tells me that her affected sister had BRCA testing in 2001 and had normal results, I feel a slight sense of relief, but I still have concerns that there is a hereditary component to the family’s cancer. I recommend that they come back in for more comprehensive testing, if possible. The same holds true for pediatric or adult patients with genetic concerns that have not been identified.
Just as family histories are dynamic, and people may develop medical issues over time, so too, the availability and breadth of genetic testing is not static and is expanding at a fast pace. I now tell most of my patients to check back with us in a year or two, because more information or more testing may be available at that time. While it may be hard to keep up, a consultation with a genetic counselor who is knowledgeable in the field might be very helpful to you and your family. You can find a genetic counselor near you at www.nsgc.org.
A genetic counselor colleague of mine just posted the singing group One Republic’s new music video , “I Lived”. The video features 15 year old Bryan, who gives us a glimpse into living with a common genetic disease, cystic fibrosis (CF). The lyrics to the song are an inspiration, as are the interludes of Brian speaking about his dreams for his (short) life (The life expectancy for an individual with CF is about 36 years). I will admit that I cried when I watched it and bet some of you will too. I started to think about how amazing it is that a band with such a huge following (the video has 12,608,608 views on YouTube!) was able to make an impact on the CF world with a statement that is 5 minutes and 39 seconds.
The purpose of this blog is not to talk about CF, but I will give a brief synopsis of the condition. CF is one of the diseases that we talk about in every reproductive genetics appointment at our clinic at Montefiore. Like SMA and fragile X, CF carrier testing is offered to all women who are pregnant or considering a pregnancy. Carriers of CF have no symptoms of the disease, but if their partners are also carriers of CF, then there is a 25% risk with each pregnancy that the child will be affected. Unlike many of the specifically Ashkenazi diseases we screen for, CF is pan-ethnic. It is estimated that 30,000 children and adults in the US and 70,000 worldwide are affected with CF. The Cystic Fibrosis Foundation has done phenomenal work in the realm of education, advocacy, and fundraising for research initiatives, and you can visit their website to learn more about the disease.
I think about all of the recent publicity for different diseases and it amazes me…This past summer’s Ice Bucket Challenge to raise awareness for ALS, Angelina Jolie’s op-ed in The New York Times disclosing her BRCA carrier status, Catherine Zeta Jones’s disclosure that she is being treated for bipolar disease, Movember’s amusing mustache-growing competitions during the month of November to raise awareness for men’s health issues, and the Cincinnati Bengal’s recent high-profile fundraising campaign to sell Devon Still’s jersey for pediatric cancer research (his 4 year old daughter is battling cancer). What an impact these movements have made on the world!
Young Bryan from the One Republic video, and all of these public figures, are doing a service to us by telling their stories. Awareness and education about these diseases are not only essential to empower people to try to take preventative measures for themselves and their children, but it also plays a vital role in increasing understanding about diseases and their impact. Genetic (and non-genetic) diseases should not be taboo to discuss. So please, if you feel comfortable, share your stories. You don’t need celebrity status to do so.