I am pleased to announce the launch of our newest lesson in the MyJewishGeneticHealth.com series: Adult Polyglucosan Body Disease (APBD). “What’s that?” you say? Well, as you will learn as you watch the webinar and read through the associated materials, it’s an adult onset condition causing numbness, walking difficulty, and urinary problems, it is more common in Ashkenazi Jews, and is frequently misdiagnosed!
The fact that this condition is frequently misdiagnosed is a really big deal. It means a lot of people may be undergoing unnecessary treatments or not getting the supportive therapies that would be helpful for them. When we began to develop this lesson, and I first started learning about APBD, I started thinking about all the people who might actually have this condition but never knew it, and have been undergoing frequent evaluations and unsuccessful treatments, all of which could have been avoided if the proper diagnosis was made.
It doesn’t surprise me that most people haven’t heard of APBD; I hadn’t heard of it until we began working on this lesson. I think a little awareness will hopefully go a long way, and might help some in our community have a better understand of their own symptoms and health, and to have their diagnostic odyssey finally come to an end.
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!
As everyone else in the Jewish world is gearing up for Passover by cleaning, cooking, and planning their Seders, I am thinking about how to best convince you to use the opportunity of a holiday to discuss your family health history!
Hopefully, I no longer need to convince you that gathering information about your family medical history is a worthwhile activity, but If I do, I will remind you, that far better than any genetic test, your family health history can help you and your healthcare providers determine what medical issues you are at risk for, and subsequently, how to best care for you.
You can also use this family history tool created by the Surgeon General, or these guidelines to learn what questions to ask, and how to take your own family history. Some additional instructions or family history guides can be found on the NSGC website here.
We know that discussing your family medical history may feel like an uncomfortable and nosy task, but your family medical history is part of your heritage and has major implications for your own health, and the health of your family members.
Wishing you a happy and healthy Passover, from the Program for Jewish Genetic Health!!
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!
Here at the Program for Jewish Genetic Health, we do not have a formal “genetics hotline”, but we get more than our fair share of phone calls with people asking for direction or advice related to genetics and genetic testing issues in their families. We get to hear from people from all over the world and are often surprised and intrigued at how many new and interesting questions come up, including questions related to shidduchim (matchmaking and dating), genetic testing and halacha (Jewish law), and referrals to genetics specialists. While we try our best to provide a sympathetic ear and help as best we can, sometimes my compassion gets stretched to the limit. Since I believe so strongly in the utility of genetic counseling, I find it hard to keep my cool when the caller tries to convince me that they know better or that they can navigate the genetics scene by themselves (because, really, if he/she could, why would they be calling me for help?).
Here is one representative example of a call we have fielded:
Caller: “My child had this genetic testing done, and now we’re trying to figure out how to test ourselves and what the next steps are.”
Ok. Sounds reasonable.
Me: “Who did the genetic testing for your child?”
Caller: “Our pediatrician.”
Not ideal, but it was ordered by a physician. Let’s get a bit more information so I can figure out the next best steps.
Me: “Are you going to meet with a genetic counselor or geneticist?”
Caller: “No, we haven’t gotten that far yet.”
Me: “How did your pediatrician decide to order that test?”
Caller: “We asked him to write the prescription, so he did, and we brought it to the lab and had the test done.”
Me: “How did you guys come up with the idea to do that genetic test?”
Caller: “Well, my child has XYZ issue and we’ve been looking into nutritional therapies, and this specific test was recommended by a member of a wellness nutrition group on Facebook..”
…….. ………… !?!?!?!?!?!?!?!?!?!?
Especially with all the hype out there about genetics and the future of medicine, it is totally understandable for parents to turn to genetics and genetic testing to try and better understand medical issues in their families and figure out more effective treatments. And in many areas of genetics, we are actually very good at doing just that! However, the DIY approach may not be the best approach, especially when the genetic testing needed is more complex and may require testing multiple genes.
Trained genetic counselors and geneticists are here for a reason! We are your friends! We are your guides to the big wide world of genetics and genetic testing. Genetic counselors are actually trained to look at your personal medical and family history and determine which genetic tests are most appropriate, coordinate testing, work through insurance coverage issues, and then explain the results when they come back. That is our WHOLE job (ok, fine, genetic counselors often do much more than this). PLEASE USE US AS A RESOURCE! (We are here to help healthcare providers and patients alike!)
In the end, I just felt bad for this family. The parents were clearly trying to figure out the best way to care for their child- but they were trying to do it alone, without the guidance of trained genetics professionals who could have helped guide them to the right tests, and spared them some anxiety and worry in the process.
As genetics becomes further integrated into medical care, the need for access to trained professionals who can help interpret and incorporate genetic testing and genetic testing results into care continues to increase. There are more than 4,000 certified genetic counselors in the U.S., and our numbers and impact continue to grow! Genetic counselors are your best resource to navigate the genetic testing maze which currently exists for the public, but we can only help if you involve us in the process.
You can find a local genetic counselor by visiting www.NSGC.org and using the “Find a Genetic Counselor” tool.
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
Reflecting on 2015, we realized that the Program for Jewish Genetic Health gave around 40 live talks over the course of the year, to a wide variety of target audiences (not to mention the online “lessons” we release on MyJewishGeneticHealth.com to a worldwide audience). In thinking about the talks I personally have given over the last few months, I realized that many times the questions come after the Q&A portion, even weeks after. Sometimes the “asker” was aware of the fact that their question was too personal in nature, other times the asker may have thought their question would seem naïve. Occasionally, the asker has been thinking for a while about the topic and comes up with an inquiry that is rather deep.
Here are two examples of recurring personal questions that I have received after my BRCA-centered talks. As a brief review, mutations in the BRCA genes predispose women and men to developing certain kinds of cancers including breast, ovarian, pancreatic, and more. BRCA mutations can run in families and be inherited by children. Women and men who are shown by genetic testing to carry BRCA gene mutations have options to reduce and manage their cancer risks. About 1 in 40 individuals of Ashkenazi Jewish descent are believed to carry a BRCA mutation, even if there is no significant incidence of BRCA cancers in their families.
Question 1: My grandmother had XX cancer and my aunt had XX cancer. Do you think I need to consider BRCA testing?
The answer to this one is easy—I always remind the asker that I am not a genetic counselor or a genetic healthcare provider, and I advise them that they should consider meeting with one of those professionals to discuss their family cancer history. A good online resource for finding a genetic counselor anywhere in the US and Canada is http://nsgc.org/p/cm/ld/fid=164 (make sure to search under the ‘cancer’ in ‘types of specialization’). I also advise them to try to collect as much family cancer history information (including cancer type and age of diagnosis) as possible, so that if they ultimately decide to pursue genetic testing for hereditary cancer, the most appropriate (and most current) test can be ordered based on that family history.
Question 2: Given the 1 in 40 carrier rate of BRCA mutations in Ashkenazi Jews, have you yourself gotten tested?
For a long time, the answer was no, I am just not ready. The decision to pursue genetic testing is a very personal one, and several factors need to be considered including whether the timing is right to deal with the knowledge and its implications. More recently, the tides have turned for me, in part due to two comments that reverberate in my mind and heart. The first is something one of our Program genetic counselors likes to say–“Finding out that one has a BRCA mutation doesn’t change anything about whether that mutation is there or not…finding out allows an individual to be empowered to consider available options.” The other is a sentence from a recent New York Times piece by the author Elizabeth Wurtzel after her cancer diagnosis and ensuing surgery and chemotherapy—“I could have avoided all this if I had been tested for the BRCA mutation.”
Part of me appreciates that audience members reserve their very personal questions at the end of (and especially during :)) my talks, since usually these questions do not have generalizable value. Maybe though, in the realm of genetics and cancer prevention, every “story” has the potential for a broadly relevant take home message.
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