Author Archives: estierose
Having just had a baby, I would like to reflect on a phenomenon I am currently experiencing and have seen a million times. Well-meaning visitors always feel like they need to comment on a newborn’s appearance. The usual “he looks so alert,” “what a head of hair!” and “that dimple!” will always get me to nod and smile. But I have to admit I do not like when I am asked “so who does he look like?” While he is pretty much a carbon copy of his older brothers, and visitors don’t need to strain to figure out who he resembles, I find it uncomfortable being asked this question.
The reason I am very sensitive to this question is that I am well aware of the struggles that many other couples endure to have families, whether it be to have biological children or adopted. It is now estimated that the use of assisted reproductive technologies account for about 1.5% of all infants born in the United States. That is a lot! And that includes the use of in-vitro fertilization (IVF), which can either be performed using both parents’ gametes (sperm and egg) or using a gamete donor (or partial gamete donors, as used for the recently born three parent baby).
There are many reasons a couple might decide to undergo IVF. The two most common reasons I see as a prenatal genetic counselor are for fertility issues and for when either or both parents is a genetic diseases carrier. While some couples with a genetic disease in the family opt to undergo IVF with pre-implantation genetic diagnosis using their own gametes, I often see couples who choose use IVF to conceive a baby using a donor egg or sperm that has undergone genetic testing and does not carry the genetic mutation of concern. So this means half the genetic material of a baby born using a donor gamete will come from social/genetic parent 1 and the other half will come from the donor/genetic parent 2 who will not be the social parent. The baby will not be genetically related to the other social parent at all. This process is one of the most exciting parts in medicine to me since it can help couples circumvent the pain and suffering involved in having a child with a genetic disease of which both (or in some instances one) parents are known carriers.
While the use of IVF for any indication has become widespread in the US and some couples who undergo this procedure are very public about it, many still are not. We need to remember that some wish to remain private about reproductive issues and do not like people talking about this aspect of their lives.
How or when a couple has children is nobody’s business but their own.
So next time you think about commenting on a baby’s appearance, please take a second to think. Maybe this baby doesn’t look like other family members because it is not a full biological relative. And maybe there’s a medical reason it took a long time for a couple to have had a child. What may seem like an innocent remark may actually bring up feelings of pain for a parent.
Wishing all of our readers a happy and healthy new year!
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!
After months of planning, the Program for Jewish Genetic Health is proud to announce the launch of our group genetic counseling sessions with testing for common Ashkenazi genetic diseases. This has been a long time coming and we are very excited to finally open this up to the public!
The backstory: Our program has had many successful genetic testing events at different campuses and synagogues over the years. But we have been seeing that many past participants contact us years later for an extra copy of their results because they are either in the dating/marriage or family planning stage and finally need their results for important decision-making. Pretty much every patient who calls gets an earful from me about how his or her results may be outdated, as new tests were likely added to the panel since the testing was done.
Our program leadership has been struggling with our official stance on when we believe carrier screening should be done. Since some will use their results in the pre-dating or dating phase, maybe it would make sense to recommend testing early on (think college time). But many will choose a partner and only use their results when starting to think about building a family. If those people got tested at 19 years old and will only use the results years later, chances are the testing is outdated.
The brainstorming: After much back-and-forth about this, we decided that we would not be going ‘on the road’ to campus screening events any more. We believe that the best time to get testing is before contemplating a pregnancy; and that may mean a different thing to everyone. We think that it should be up to the individual to decide when is the most appropriate time to get tested and we should not be imposing a time-frame on college students.
So how should people get tested? Until now, we have been seeing patients one-on-one in our clinical offices. In those sessions, the individual meets with a genetic counselor and a detailed medical and family history is obtained. The genetic counselor then recommends a panel of tests depending on what was reported during the session. The costs involved may differ from one patient to another since different tests may be recommended.
But for the patients who have no family history of genetic conditions or are not of mixed ancestry, the testing and genetic counseling is standard and quite straightforward. We still like the campus screening model of providing affordable and efficient carrier screening, and so we decided to try a new model of group sessions for the more “straightforward” cases.
The details: Our group sessions will be held on Fridays at 9 AM in our Bronx location. For these sessions, we are partnering with JScreen, a genetic testing group that relies on generous donors to offset the cost of testing. There will be a minimal cost for the counseling (which will likely be covered by insurance) and the total cost for testing will be $99. Pre-registration is required.
While these sessions are not a one-size-fits all, they certainly will be helpful to many. Take a look at our PJGH testing website for more information on registering for an appointment and to learn more about whether the group setting is right for you.
We look forward to meeting you!
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)
For years, when we got inquiries from Sephardi or Mizrahi patients about preconception genetic testing, we would respond that there is currently no testing panel as there is for our Ashkenazi patients. And we would feel bad about that because we know that, like in many other ethnicities, there are genetic diseases which are common in Sephardi and Mizrahi populations too.
When we hosted a genetic testing event at Yeshiva University in 2013, our flyer included a call-out to the Sephardi students to contact us privately and not to register for the event. Turns out, 22 interested students were disqualified from the event, and I have no idea how many actually called us to come in for private counseling and testing. My guess is zero.
Since the genetics for Sephardi and Mizrahi Jews differ by country of origin (and there many countries with Jews), genetics labs never really made it a priority to develop testing panels. After all, why should they develop tests that a tiny number of people will actually need? So we were left between a rock and a hard place; on the one hand, we encourage people to get tested for diseases common to individuals of their ethnicity, but on the other hand, we are unable to order any testing. We were essentially pushing a product we didn’t have.
This all changed about a month ago, when we started offering a new panel that was developed for Jews of all backgrounds. This new panel is made of 96 diseases; 48 of them are common in Ashkenazis, 38 in Sephardi/Mizrahis, and 10 overlap between the groups (it is a very large panel!). Here are some of the things that we have been finding since we upgraded:
- People think they know what their ancestry is, but are surprised to find out they may be more mixed than they thought. A patient of ours could have sworn he was 100% Ashkenazi, but he came back as carrier for a disease that is common in Yemenite Jews. When he asked his grandmother if there was something he didn’t know, he learned that he had some North African ancestors!
- The more diseases we screen for, the more likely someone will be a carrier. We used to say that about 1 in 3 people will screen positive for something. But so far, I think we have only had one patient who was not a carrier of anything on the panel. And of course, being a carrier, in general has no effect on one’s health and should not be considered a stigma.
- Even though we have tripled the amount of diseases on our testing panel, the ‘classic’ Jewish diseases are still ‘classic.’ I would have thought that the more diseases we screen for, we would see a wider array of results, but we have been seeing that those diseases that have been on the panel since the beginning (the common ones, like Tay Sachs and Gaucher) are still the ones that we have been picking up most often.
- We have had a Jewish history lesson for our genetic counselors helping them understand the different migrations of Jews over the course of history, and how ‘Ashkenazi’, ‘Sephardi’, and ‘Mizrahi’ Jews came to be.
The bottom line is that carrier screening is recommended before contemplating a pregnancy for anyone that is at least ¼ Jewish. It doesn’t make a difference if one has mixed ancestry, if he/she knows that a relative tested negative in the past, or if he/she chooses to affiliate with a movement within Judaism. Our genes do not choose to be transmitted only to the “more Jewish” people. Most of the diseases on the panel are a burden on the affected person and the family and testing a couple before a pregnancy is one of the best preventative actions one can take to avoid heartache. Visit PJGHtesting.com to learn more about the testing.
The month of October is a very busy time in the realm of awareness when it comes to breast cancer. The walks and pink ribbons pinned onto virtually every piece of cloth are a great way to remind women to go for screening. But they also normalize the condition and make women who have been affected feel like they are not alone. I myself don’t need my pink Kitchen Aid mixer to remind me that breast cancer exists, but I have to say that its presence on my counter makes whoever sees it realize that cancer is not a stigma and certainly not something to hide.
While breast cancer seems to get all of the attention during October, many people do not know that this is also SIDS, Pregnancy, and Infant Loss Awareness Month. One of the most common things we hear in our reproductive genetics clinic is women saying that they suffer in silence-whether it is having a sick baby, or dealing with infertility, or pregnancy loss. Most couples do not publicize their struggles, and instead live dual lives of dealing with them in private while trying to pretend that everything is ok. And all that acting is hard!
I read a really well-written excerpt called “The Cost of Appearances” by Arthur Frank. This book chapter is about being a patient, but I think its message can be applied to couples facing loss in the reproductive realm as well. Frank writes, “Two kinds of work are involved in being ill. One kind takes place when the ill person works with emotions…and tries to find coherence about what it means to be ill. The other kind is the work the ill person does to keep up an appearance.”
When people going through tough situations try to be cheerful and “ok”, it makes the people around them more comfortable, but it sucks up a lot of energy and it prevents loved ones from being able to provide comfort. Many people facing loss isolate themselves because they fear that nobody will understand what they are going through and might not know what to say.
This is a normal response, but it is not necessarily a helpful one for the mind. Reproductive loss is so common, but people just don’t realize it because it’s often kept a secret. About 15% of pregnancies end in fetal loss or stillbirth. That is a lot, but again, people don’t often share this kind of stuff. There are no colored ribbons plastered on people’s houses when it happens to them.
I am not advocating for people to announce to the world every struggle they have. The decision to share such things is a very personal one, and I can think of many good reasons not to. But, for those who are comfortable sharing, you will definitely be helping others who need someone to relate to.
There are many support groups out there for people who need to speak to and hear from others who have experienced similar things-and many of them offer the opportunity to make it anonymous. There are also many mental health specialists who work in the realm of bereavement.
Let’s try to remember that you don’t get extra points for being “ok,” and that your mental health and relationships with others will be better off if you deal with your emotions. There are so many people who are there to help.
Here are a couple of resources in the Orthodox community that I know about. I am sure there are plenty more in your area.
Nechama Comfort, a support group in northern NJ for families who have experienced infant or pregnancy loss
Knafayim, 718-871-8968, hosts support groups via anonymous conference calls
National Council of Women NY Pregnancy Loss Support Program, hosts support groups and counseling in the New York area
A Time, provides education and support for couples dealing with infertility
Bonei Olam, provides resources and means to help couples with assisted reproductive technologies.
Facebook-I have seen many groups that are closed to the public and are great forums to vent, ask for recommendations, and hear from others
Genetic counselors tend to be very attuned to the details in the ‘big picture.’ We take very detailed family histories when we meet with patients because we look for patterns which may suggest a hereditary component to a family’s medical concerns. We are trained to think critically and to not just accept things as chance.
This method of thinking is a skill we need in the workplace, but I find that it is difficult for me to separate my ‘work brain’ from my ‘real life brain.’ When I identify a situation where I believe that a genetics evaluation or genetic testing may be appropriate for an individual or a family, it’s hard to “turn off” the instinct, even if the situation is in my personal life where the person or family involved is not my patient.
On occasion, I will see a mother with her kids at the supermarket or on the subway platform and something about the child’s appearance or behavior will make me wonder if there is something genetic going on in the family. Other times, I will hear about a young woman in the community who is struggling with cancer and whose mother had died young. Other people post on social media about praying for her, about helping the family by providing meals and childcare, and there will be comments about how sad it is that this family is going through so much. But my first thought will be: Hmmm, I wonder if there is a genetic basis to this family’s cancer. And even strangers who learn that I am a genetic counselor will tell me their stories about seeing a counselor years ago for their child’s developmental delays and how it was a waste of time since all the genetic testing was normal and nothing was solved.
It is times like these when I struggle to decide whether or not I should speak up and recommend a consultation with a genetic counselor (sometimes, a second visit is warranted since newer technologies have been developed and testing may be different). Close friends or family members who know that I work in the field of genetics would probably welcome my advice, but what do I do when I don’t know the person at all or I may know “of the” person, but we have no relationship? Am I overstepping my boundaries?
The answer is, perhaps. But as genetics professional, I feel that I have a responsibility to help families and my community by sharing my expertise. How to best approach it? That, I don’t know. I find that the solution is very case-by-case, and I need to try to determine how my advice will be received. I remember when my son was 6 months old, a friend of mine who is an occupational therapist mentioned to me that he tilts his head too much and I should consider a physical therapy evaluation. I thanked her for her gratuitous advice and got an appointment for him later that day (he’s doing fine now!). But would I want a stranger telling me to do something?
One good way to approach this, especially with a stranger or an acquaintance, would be to try to find an intermediary who may be better suited to reach out to the person. If I can find someone I trust who knows the person, perhaps he or she can broach the topic and tell them they know someone (me or another genetics professional) who can help them. Only if I am feeling very bold would I actually say something to a stranger. But I would just hate myself for walking away knowing that I had the opportunity to help someone. I hope that people do not see such advice as me trying to be nosy, but that they accept and appreciate that there are those people who may be able to help them, and that we genuinely want to be there for them as they struggle through a hard time.
I recognize that there will be situations where I can’t find an intermediary, and I can’t work up the courage to make recommendations to a complete stranger. That’s why publicizing the availability and importance of genetic counselors may help that family or other families in the future. The more that people recognize the utility of a genetic counseling visit, the more likely it will be that even if I can’t make the recommendation, perhaps someone else will.
“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.
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.