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Jul 21 2014

What Happens When You Are a Carrier for a Jewish Genetic Disease?

By at 10:13 am

Carriers-part-1

Lauren Weinstein and her husband were expecting their first child when they learned that they are both carriers of a gene that causes cystic fibrosis (CF), one of the 19 common genetic diseases found among Ashkenazi Jews. The prognosis for a child with CF is pretty grim, and Lauren underwent DNA testing to learn if their child would have the disease. Then she managed to write a touching and darkly funny comic called “Carriers” about the period of waiting for those test results, published in Nautilus. She agreed to talk with me about her experience.

1. What was the your initial response when you were told that there was a good chance your child would have CF? Were you scouring the internet?

I have never been a fan of researching any medical issue on the internet. Obviously, it is a writhing pit of misinformation, none of which may pertain to your specific problem, especially when it’s about something as serious as CF. I waited until I met the genetic counselor and the pediatrician. And the picture the pediatrician painted was pretty bleak, unfortunately. Read the rest of this entry →

Dec 16 2013

They Never Screened for Tay-Sachs Until They Met Me

By at 2:42 pm

shutterstock_136518500

“Even though your husband isn’t Jewish, let’s screen you for Tay-Sachs,” my Amazonian midwife told me at my 8-week maternity visit. She, like me, and despite the nearly two-foot difference in our heights, is of Ashkenazi extraction. It made sense–why not err on the side of caution?

I wasn’t able to get a 12-week appointment with my midwife that lived with my work schedule, so I saw an obstetrician at the same practice.

“Tay-Sachs?” he muttered back to me as I tried not to fall asleep on the table. “Do we do that?”

Oh, the joys of being Jewish in small town Maine.

“You might be the first Tay-Sachs draw we’ve ever done!” he exclaimed. “I don’t even know how to add it to your lab order!” Read the rest of this entry →

Oct 22 2013

Gaucher’s Disease Awareness Month: Q&A with a Mother Living with Gaucher’s

By at 2:35 pm
Chris-Kara-Erik Lang

From left to right: Chris, her daughter Kara, and son Erik.

 

October is the official Gaucher’s disease Awareness Month. Gaucher’s disease is the most common genetic disease among Ashkenazi Jews.

Gaucher’s disease is a rare, inherited disorder caused by a deficiency in a particular enzyme. Gaucher’s (pronounced go-SHAYZ) disease occurs when certain harmful fatty substances accumulate to excessive levels in your liver, spleen, lungs, bone marrow, and brain. The accumulation of fatty material in tissues interferes with how your body works and may cause organ enlargement and bone pain.

Besides wearing green shoelaces to show your support, you could also learn much more about this disease by reading the following Q&A with Chris Lang, mother of two, who was diagnosed with Gaucher’s at 31 years old.

How/when did you first find out you had Gaucher’s? What type are you? Read the rest of this entry →

Mar 29 2012

Love Me, Love My Genes

By at 11:30 am

I wasn't thinking about the genetics of sperm + egg when I met my future husband.

Nobody thinks about genetics when they’re falling in love.

We sure didn’t. And when we were newly engaged, I pointedly chose not to go for the genetic testing. I was sure about our love, but I wasn’t sure our engagement could survive a genetic bombshell. He had been all-too-clear that it was really important to him to have biological children.

Read the rest of this entry →

Dec 8 2011

The Newest Hero on the Block

By at 9:07 am

Some serious heroes: Randy, Caroline, Natanel and Eden Gold.

Did you know that the Jewish Federations of North America sponsor a contest every year to elect a Jewish Community Hero? Maybe you didn’t. After all, it doesn’t usually make the national news. But here at Kveller, we’re super proud of the newly-announced 2011 Jewish Community Hero, Randy Gold.

We were introduced to Randy and his wife Caroline a few months back when they told us the story of their family. They have two children, and their daughter Eden suffers from a terrible genetic disease called Mucolipidosis Type IV, or ML4. Eden has a limited life expectancy, and most affected children are not able to talk or walk, and their mental capacity maxes out around 18 months. If you read Randy and Caroline’s full story here, you’ll get all of the details, but I’ll summarize for you.

Basically, Randy and Caroline were both tested for Jewish Genetic Diseases. They trusted their doctors and assumed they were tested for everything that they needed to be tested for. As it turns out, they were tested for only 2 and 8 diseases, respectively, of the 16 that had been discovered at the time. (Now there are 19.) Their daughter Eden was born with a disease for which they hadn’t been tested.

Rather than breaking down and giving up, or grieving, Randy and Caroline took action. They see themselves as having a responsibility, a sacred task–to solve the problem of Jewish genetic diseases. They founded an organization called Jewish Gene Screen in partnership with The Marcus Foundation, and work to educate doctors, rabbis, cantors, educators, and young couples about Jewish genetic diseases. Randy explains their passion best in his own words:

Through our tragedy, we can save lives. This is a legacy that Caroline and I never thought we would leave. But if our legacy is helping to change the landscape of Jewish genetic diseases, then I think Eden has no more noble a life.

We’re really proud of Randy, Caroline, and the whole family. Mazel tov on your great accomplishment, and we wish you even more success in the future.

Now all you Kvellers out there–get tested, and tell your friends to get tested too!

Kveller has lots of information on Jewish Genetic Diseases that you can find here. Additionally, you can log onto www.jewishgenescreen.org or www.victorcenters.org, print the list of 19 known preventable diseases, take the list to your doctor and ask to be tested for all of them. If the doctor has any questions, he or she should call The Victor Centers’ information line.

Oct 26 2011

Pitiless, Fire-breathing Loving Kindness…on Facebook?

By at 10:56 am

Photo by Alexandra Huddleston for The New York Times

Facebook is the equivalent of talking by the water-cooler for those who work at home (or agoraphobes): type in your password to see what people are talking about.  And so that’s how I know that a lot of you apparently like talking about terrible things.

“You’ve GOT to read this” was the basic gist of the eight or nine wall postings and forwards I received of Emily Rapp’s well-written piece in the New York Times. In the piece, Rapp told the story of being a “dragon mother” – that is, a mother of a fatally ill son with Tay-Sachs whose time on this earth is limited to a handful of years at best. As parents, we all know that no amount of time would be enough, and in knowing that, Rapp’s family’s fate is even more horrifically cruel.

After seeing the fifth Facebook post, I read Rapp’s piece and felt sick. It made my stomach turn with pity and fear, two emotions that I admit find singularly unpleasant. I don’t like feeling pity because I can’t shake the feeling that it implies that I somehow, even implicitly, deem myself “better” than they are, or more fortunate.  There is an element of condescension, I find, in pity, but even more so in our ability to exit from the situation we pity with such ease compared to those who are suffering. It’s like watching a TV show about famine and then turning it off, saying, “That’s awful” and going out to meet your friends for dinner. And to finish reading this piece and hug my healthy baby tighter, as though to say, “I appreciate you more after having seen someone else’s suffering.” That felt  cruel, somehow, to me.

I am not better than this woman – if anything, I am worse in so many ways — but I am indescribably more fortunate. I savor my children’s faces each morning I am with them, but do so doubly because it is not “normal” for me. Thanks to my divorce, our “normal” is different from other families. I don’t get to spend every birthday or every vacation with my boys.

And yet, despite or perhaps because of my sorrow at the seesaw of custody and my boys leaving and coming, leaving and coming, I savor them more perhaps than I would have otherwise. I was blessed with an unexpected daughter from an unexpected second marriage, and because of knowing the vast emptiness I had faced without her, I savor her more than perhaps I would have otherwise. I am proprietary about all of their time. I don’t want to waste any of it. Read the rest of this entry →

May 23 2011

For $200 Find Out if Your Kid Should Play Squash or Basketball

By at 12:11 pm

If you’re on this website, chances are good you’ve heard of testing for Jewish genetic diseases. But how about genetic testing…for sports proclivity?

According to the Washington Post, two companies have recently begun selling test kits that for less than $200 will help parents determine to which sports their children are genetically suited. And no, I’m not kidding. The idea is that the DNA scan will evaluate the kid’s potential at different sports, and also lend itself toward helping tailor workouts and physical activity – as well as provide an early-detection system for predispositions to certain problems and illnesses.

OK, the latter sounds not so bad, especially if it helps the kid embark early on a course of action to avoid them. But the piece points out that critics say such tests are “questionable,” both in the fact that the results may be “needlessly alarming or falsely reassuring,” and the fact that no one really can tell the influence of genes on athletic prowess.

I do believe that genetics play a certain role in sports, but am not sure I can subscribe to the idea of testing as providing an end-all, be-all synopsis of your fate. But isn’t that true of any evaluative test – don’t rely on it excessively, but it does have the capacity point you in the proper direction? So basically, I think these tests aren’t so awful – so long as you don’t take them particularly seriously. Which may mean not taking them in the first place.

Of course, I don’t need a genetic screen to tell me that my kids aren’t destined to be the next LeBron. Based on factors like my own shrimp-esque height and lack of any athletic ability, I feel that’s a pretty solid predictor. But as I watch my little 6-year-old shoot ball after ball in the general direction of the basketball hoop in our driveway, I sure as hell am not going to be the one to tell him that.

May 10 2011

The Jewish Genes

By at 11:52 am

For some people, taking blood is no biggie. For me, it's kind of petrifying.

I am needle-phobic. To avoid pricks (at least the kind that get under my skin…that didn’t work…you know, the ones that draw blood), I just don’t go to the doctor. But, when you’re pregnant, you really have no choice (unless you don’t realize you’re carrying a watermelon in your gut AND you’re constipated AND you haven’t taken a trip to the feminine product aisle at CVS in 9 months, like these chicks).

If you’re Jewish, you’re subjected to blood testing even before you get pregnant in order to screen for genetic diseases. When my doctor suggested the testing, I refused. There is no history of genetic disease in my family or my husband’s family and I sure as heck was not going to let Mr. Phlebotomy take 5 vials of my blood. After some not-so-gentle prodding by my doctor, I reluctantly subjected my little veins to the not-so-gentle prodding at the lab.

A week later, my doc called to inform me I was a carrier of Familial Dysautonomia and since one out of four Ashkenazi Jews (those of us from eastern Europe…or, the pale Jews) is a carrier of at least 1 of the 19 genetic diseases, it would make sense for my husband to be tested as well. We did the math and odds were definitely in our favor. But, 1 in 900 meant nothing when Matt’s test came back positive as well.

Shocked, upset, and scared, we made an appointment with a genetic counselor to learn about our options for having a child without this life-threatening disease. We narrowed our choices down to either: 1) Gamble (make a fetus, get tested at 12 weeks, hope for the best, and make a difficult decision if need-be), or 2) IVF ($30,000 not covered by insurance, not guaranteed to make a baby, and not for the needle-nervous). I’m the kind of girl who’d take her baby to Vegas (yes, I did that when he was 3 months old), so you can probably guess that we decided to press our luck.

It’s a basic Punnett Square genetic equation–Mom and Dad each carry one recessive gene and the fetus would need to acquire both of these genes to have the disease. In other words, DD, Dd, dD, dd (remember that from high school biology?) 25% chance the fetus would have the disease, 50% chance the fetus would be a carrier just like we are, and 25% change the fetus would not be a carrier of the disease. Or quite simply, one in four odds our offspring would have FD.

Sperm+Egg met, EPT showed two blue lines, and the waiting game began. Twelve long, exhausted, nauseous weeks later, a sample of placenta was removed, and two agonizingly slow weeks after that, we received the call that the fetus was a carrier of the gene, just like Mom and Dad. Ridiculously big sigh of relief.

Matt and I like to needle each other and guess who gave Ari his FD gene. We really don’t care. We are just thankful each and every day that he is perfectly healthy. (And we hope he will marry a nice Sephardic girl one day–for the genetic assurance, the darker skin pigmentation, and of course, the rice and peas during Passover.)

On a serious note, thanks for reading. I hope you will pass this along to friends, relatives, neighbors, clergy, medical professionals, and anyone else who may not know about the genetic screening test. Or, just “like” this and post on your facebook page to increase awareness. Thank you.

For more information about Jewish genetic diseases, check out Kveller’s Frequently Asked Questions, Resource List, and Options for Carriers.

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