Prenatal Tay Sachs Screening – Not a Perfect Test

This week’s NY Times has a most powerful and beautiful essay written by Emily Rapp, entitled “Notes From a Dragon Mom”, in which she describes what it is like to parent a child who is destined to die. Rapp’s 18 month old son Ronan has Tay Sachs disease, a progressive and incurable neurologic disorder that will result in his death within a few short years of life.

How do you parent without a net, without a future, knowing that you will lose your child, bit by torturous bit?

Depressing? Sure. But not without wisdom, not without a profound understanding of the human experience or without hard-won lessons, forged through grief and helplessness and deeply committed love about how to be not just a mother or a father but how to be human.

Rapp’s essay is a foray into the true connection between parent and child, and, in a way, a celebration of how that relationship is all the more special because it is devoid of the pressures of perfect parenting for the perfect future.

Ronan has given us a terrible freedom from expectations, a magical world where there are no goals, no prizes to win, no outcomes to monitor, discuss, compare. But the day-to-day is often peaceful, even blissful.

As a mother, I want to thank Rapp for her wisdom as she shows us all how to be better parents, and wish her continued strength and joy as Ronan’s mom.

As a doctor, I’d like to address the section of the essay where Rapp talks about Tay Sachs gene mutation screening.  It’s a short paragraph with just enough information to answer the question the reader probably has, which is – “How did this happen, when we have prenatal testing for Tay Sachs?”. Unfortunately, it is also just enough information to confuse and even frighten women who have had or are considering having prenatal screening for Tay Sachs.

The prenatal test I took for Tay-Sachs was negative; our genetic counselor didn’t think I needed the test, since I’m not Jewish and Tay-Sachs is thought to be a greater risk among Ashkenazi Jews. Being somewhat obsessive about such matters, I had it done anyway, twice.  Both times the results were negative.

Oy. Let’s see what I can do here…

A TAY SACHS SCREENING PRIMER

What is Tay Sachs?

Tay Sachs is a genetic disorder caused a recessive mutation in the gene for hexosaminidase-A, an enzyme that catalyzes the breakdown of fatty acids in the brain. In the presence of defective Hex-A, fatty acids accumulate in the brain, causing permanent damage and progressive neurologic decline and eventually, death.

Babies born with Tay Sachs carry two copies of the defective gene, one from each parent. Parents who are carriers of recessive genes can be detected though prenatal genetic screening. This screening has been concentrated to date in high risk groups, which in the US are primarily Ashkenazi Jews, who have a carrier incidence of 1 in 30.

Who Should be Screened for Tay Sachs?

At this point in time, prenatal Tay Sachs screening is recommended to be offered to individuals from groups with increased mutation carrier incidence  – Ashkenazi Jews, French Canadians, Louisiana Cajuns and Pennsylvania Dutch. Rapp is of Irish descent,  a group with a mutation carrier incidence somewhere between 1/50 and around 1/200.

Of course, a major reason why couples screen for Tay Sachs, and for other genetic disorders, is because they want the option to terminate an affected pregnancy. An indeed, with the advent of prenatal diagnosis, the incidence of Tay Sachs among children born in the Ashkenazi Jewish population has plummeted.

In addition to using screening prenatally, some Jewish communities screen much earlier, and actually maintain online databases of Tay Sachs carrier information, so that couples can log on and screen out one another before embarking on a courtship, in an attempt to reduce marriages between two carriers. In Montreal, voluntary high-school based Tay Sachs screening programs have led to a 90% decline in the incidence of Tay Sachs in high risk communities.

Tay Sachs – Not Just a Jewish Disease 

Rapp has also written an essay on Salon entitled ” Tay Sachs is not a Jewish disease“, in which she argues that the panel of Tay Sachs genes tested should be expanded beyond the most common mutations found in the Ashkenazi Jewish populations.

…we need to consider more carefully who should get tested for what, and why. As it turns out, there are about a hundred mutations of the Tay-Sachs gene. Unfortunately the common, standard prenatal screening only detects the nine most commonly detected mutations – commonly detected among those of Ashkenazi Jewish descent , like my husband.

…Until gaps like this are rectified, until the testing catches up with the facts, and until insurance companies are willing to redefine the “standard” array of tests, more families will suffer this kind of horrific loss and the great potential of prenatal screening will never be achieved.

In Rapp’s case, she and her husband indeed would have qualified for screening, and I am assuming from the fact that she was tested twice that they knew in advance that her husband was a mutation carrier.

Tay Sachs Carrier Screening

There are two ways to determine if a parent is a carrier for a Tay Sachs gene mutation – DNA testing (carrier screening) and Hexosamindase -A activity levels.

DNA Carrier Testing

Among Ashkenazi Jews, DNA carrier testing will detect up to 99% of carriers. In the case of a couple where only one is Ashkenazi, initially carrier screening the Jewish member of the couple is thus a good way to go, since the DNA screening tests perform so much better in that population.  Then, if that individual screens positive, the next step is to screen the non-Jewish member of the couple. And that’s where the DNA test falls short –  in non-Ashkenazi individuals, it detects at most 60% of affected individuals. In Rapp’s case, the gene she carried was a rare one indeed, having” last surfaced in 1997, among people of Moroccan descent”.  Thus, it is not surprising that Rapp, despite being a mutation carrier, would have had a negative carrier test result using the available DNA testing.

There are to date over 100 known mtutations in the Hex-A gene that can lead to Tay Sachs disease, and we just do not as yet, nor are we likely soon, to have commercially available screening test for every mutation known to date. In the case of a non-Jewish individual married to a Jewish carrier, non-DNA screening for Hexosaminidase-A activity provides a better alternative to DNA testing.

Hexosaminidase-A Activity Testing

Individuals who carry Hex-A gene mutations, while phenotypically normal, have lower than normal levels of Hex-A serum activity on a simple blood test. This test actually formed the basis of the first screening for Tay Sachs, before we had DNA testing, which is thought to me more specific.

In some ways, though, DNA testing is too specific – it’s like searching for 1 of 100 needles in a haystack. And when you only know how to find 9 of those 100 needles, maybe you’re better off using a magnet – Hex-A Activity testing. It may not tell you which gene you have, but at least it tells you whose haystack has the needles. At that point, you would proceed to testing the baby.

Some might even use Hex-A testing as first line testing in an Ashkenazi individual, or combine it with DNA testing to get as close to 100% certainty as possible even in that population. And, as populations diversify through intermarrriage, Hex-A activity levels are being suggested as a better screen that DNA testing.

Of course, even hex-A activity testing isn’t perfect . But it’s pretty darned good.

Testing the Baby

Remember, that even if both members of the couple are carriers, there is only a 25% chance that the child will be affected. So if both members of the couple are Tay Sachs carriers, or if one is a carrier and the other uncertain, then testing the baby is done using CVS or amniocentesis to test for Hex-A activity, DNA or both. CVS and Amnio are both invasive tests with a small but real risk for miscarriage. Preimplantation genetic testing is also available for couples undergoing IVF who wish to screen for Tay Sachs.

But even these test are not perfect. Which, in the end, was the whole point of my writing this post. So let me say it again –

NO PRENATAL DIAGNOSTIC TEST IS PERFECT

We can talk about how to make Tay Sachs screening more effective. We can expand the number of genes we test for, and the number of individuals who are offered screening, in order to come closer to realizing, as Rapp puts it “the great potential of prenatal screening.”

But we cannot, and must not, set up the expectation among women and families that the technology exists and is available that will guarantee them a perfect child. We cannot set up the expectation that technology exists to detect every child with Tay Sachs, or any other genetic disorder, prenatally.

Or, as the National Tay-Sachs and Allied Disease Organization so eloquently puts it –

We are all carriers of recessive genetic diseases but standard healthcare practice does not screen everyone for all diseases because the technology does yet exist to accurately and cost effectively screen everyone.

Which, in the end, brings me back to Rapp’s most excellent essay, which teaches us to love our children for who they our for as long as we have them – whether that is three months, three years, or a lifetime.

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For more information on Tay Sachs Screening

I Hate Fluorescent Overhead Kitchen Lighting

Adam Roberts, the Amateur Gourmet, abhors the cold flourescent lighting in his otherwise totally awesome retro LA apartment kitchen. He solved the problem by getting some mist table lamps from CB2 and placing them around his kitchen. Nice fix, Adam!

I had a similar issue here in my NYC rental apartment, which I have solved when my brother in law, who built our dining room wall unit, left behind a task light. I simply clamped the task light to my spice cabinet, bouncing the light off my white ceiling. Viola! Warmth and light. Even with the overhead flourescent light on as well, the room has a warm feeling. Maybe not as cool looking as Adam’s but I love the feel. See the difference –

Fluorescent light on – Food looks unappetizing and I feel depressed.

Task light/fluorescent combo – Aaaah….Happy food, happy cook.

Steel Cut Oats with Cinnamon, Dates and Sheep’s Milk Yogurt

It’s healthy, it’s delicious, and with the littlest bit of planning, it can be made conveniently enough for the busiest lifestyle. I know, because I live that lifestyle. And until now, breakfast was a coffee and a muffin from the truck on the way to work. No longer.

Once or twice a week, here’s what I do – while we’re cleaning up the dinner dishes, I start the oatmeal cooking. When it’s done, I take the pot off the stove and put it in the fridge. In the morning I will take out a quarter of the original batch, put it in a glass jar and heat it in the microwave. (I’m avoiding plastic when I can.) I then take the jar and put in in a bag with a small container of yogurt, a bowl and a spoon. On the way to work, I stop for coffee at the truck, and by the time I reach my desk, the oatmeal is still warm (I only love 5 blocks from work). I spoon the oatmeal into the bowl with the yogurt, and sink into my morning heaven. If I’ve gotten to bed early, I’ve also gotten up early, and beaten my first patient to the office by at least a half hour, so I can take my time and really enjoy it. If not, I just start in on office hours, nursing my oatmeal between patients throughout the morning. Either way, I’m happy.

My long term goal it to get up really early and exercise, and to eat before I get to work, but for now, this is working for me. And its a heck of a lot healthier than a muffin.

Sheep’s milk Yogurt?… Really?

OMG once you’ve tasted it, you’ll never go back to the cow. It’s got a tangy freshness that is just so special.

From a health perspective, sheep milk has a higher calcium and  nutritional content than cows milk, and while it also has more fat, 25% of that fat is medium chain triglycerides, which may benefit weight loss. Plus I find it that much more satisfying than low fat yogurt, so I only need a few ounces to feel satisfied. With Old Chatham brand, the one I’m using now, you can skim the cream off the top for a lighter fat version.

Sheep’s milk is also rich in omega-3 fatty acids and linoleic acid, and may have favorable effects on cholesterol and heart disease risk. In one study, switching from cow to sheep’s milk lowered total cholesterol among folks who ate a dairy-rich diet.  In another, sheep’s milk cheese consumption led to favorable changes in inflammatory and atherogenic markers.

The best tasting brand I’ve eaten so far is from Bellwether Farms in California (maybe because it was my first…), but the yogurt from Three Corner Field Farm is a very close second. Old Chatham makes a sheep yogurt that is more akin to the greek yogurt, and has wonderful flavors like maple and ginger.

Oatmeal with dates, Cinnamon & Sheep’s Milk Yogurt

This batch will make 4 servings. Bob’s Red Mill oats, which I am using now, calls for 3 cups of water to 1 cup of oats and a 20 minute cook time, but I’m happier with 3 1/2 cups water and a longer cooking time. You should experiment with the brand you use to find the amount of liquid and the cook that works best for you. I also like Whole Foods 365 and Trader Joes Brands. Dates have the wonderful quality of melting into the oatmeal as it cooks, dispersing their sweetness throughout, obviating the need for maple syrup or brown sugar, and, along with the cinnamon, giving it a wonderfully nutty brown color.

  • 1 cup Steel Cut Oats
  • 3 1/2 cups water
  • 1/4 tsp kosher salt
  • 1 cinnamon stick
  • 12 dates (Medjool if you can find them) pitted and cut into small pieces
  • 2- 6 oz containers of sheep’s milk yogurt (you’ll eat 3 oz each day)

Combine water, salt, oatmeal, cinnamon stick and chopped dates in a medium saucepan. Bring to a boil over medium heat. Lower heat as far as possible, cover and cook 30 minutes, stirring several times to keep it from sticking, and removing the lid for the last 10 minutes if it seems too liquidy.  Remove from heat, remove cinnamon stick, cool and store in fridge. To serve, remove 1/4 of the oatmeal, reheat for 1-2 mins in microwave. Serve with a side of sheep’s milk yogurt. Enjoy!

Nutritional info (calculated at Caloriecount.com)

More Make-Ahead Steel-Cut Oats Recipes from Around the Web

  • Pinch My Salt uses McCann’s, makes 8 servings at a time and refrigerates each serving separately in small containers
  • Mark Bittman cuts morning cooking time to 7-10 mins by making Overnight Steel Cut Oats (and tops w/ almonds and dried cranberries)
  • The Novice Chef tries her hand at overnight oats
  • Two Peas and  a Pod top their oatmeal with brown sugar and then torch it, creme brulee style. Definitely a weekend recipe.
  • Ohsheglows makes hers ahead, and has 5 different recipes on her blog, some using almond milk
  • Side of Sneakers makes her overnight in a crock pot and also uses almond milk
  • Apartment therapy uses little jars like mine.

Do you have a favorite steel cut oats recipe?

Tips for steel cut make-ahead success? A favorite brand of sheeps milk yogurt? Feel free to post it in the comments section below.


The Wired Doc – An Icon Narrative

Matt Moore’s iconographic representation of the digital habits of the wired physician, drawn for Wired Magazine’s App Guide.

… I was hired by Wired to illustrate 20 visual narratives for this special issue focusing on smart phone and tablet apps, and the people who use them… Hopefully my abstracted icon narratives get your imagination wandering in the right direction.

I like it.

Mammograms – Reality Check

A well-written and balanced article on mammography from USA Today may help move the conversation about this screening test away from hype and a bit closer to reality. The title – “Mammogram is ‘terribly imperfect’, though recommended.”

For women in their 40s, mammograms reduce the risk of dying from breast cancer by about 15%… But mammograms miss some cancers and raise false alarms about others, causing women to go through unnecessary follow-up tests… “We’re saying, ‘Mammography is a terribly imperfect test, but we’re recommending women get it,'” Brawley says. “The task force was saying, ‘Mammography is a terribly imperfect test, and women have to make a decision about whether to get it in their 40s.'”

I encourage all women to read and share this article.

What I love about the article is how clearly written, non-inflammatory and concise it is, proving that the mainstream media can get it right when it comes to health information. The article also includes a fabulous summary graph that is simple to interpret and very clearly conveys just what it is mammograms can and cannot do when it comes to preventing deaths from breast cancer.
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More reading on mammograms from TBTAM and elsewhere

Linguine with Littleneck Clams, Roasted Tomatoes and Caramelized Garlic

Kudos and a huge thanks to Melissa Clark at the NY times for this wonderful recipe, now in the running to replace Mr TBTAM’s signature recipe as our family classic clam sauce. (I now realize I have never posted Mt TBTAM’s clam sauce recipe, but promise to do so – I actually have a video of him making it.)

This meal was one of several that came from a Saturday morning bike trip to the Union Square Farmer’s Market (I’ll post that too), where we found gorgeous cherry tomatoes and fresh garlic. The herbs came from our own container garden. Gradually, we’re shifting away from stocking the fridge at the supermarket to getting fresh things at the farmers market when we can, and tailoring our week’s dinners around that. It makes for a more empty fridge throughout the week as we work our way through what’s there while it’s still fresh. I like it.

Linguine with Littleneck Clams, Roasted Tomatoes and Garlic

The recipe I’m posting here is Melissa’s recipe with a few modifications  – Mr TBTAM doctored it up at his mother Irene’s suggestion, she having made it herself the week before. Their changes were to add a can of clams (to get more clam-flavored broth), increase the garlic from 14 to 20 cloves  (it’s roasted, so don’t worry, it’s not too much) and adding fresh basil and parsley instead of mint. 

You may want to make the original recipe instead of our version. Either way, be sure to read and the accompanying article explaining the traditional Italian method of saucing pasta and why it’s done that way. I think there may be a way to shorten the recipe a bit and keep to tradition, what with all the taking of things out of and back into the pasta pot. Suggestions in this vein are welcome.

We served the dish with a side of sauteed kale, a salad and warm loaf of crusty bread for dipping in the wonderful sauce. 

20 garlic cloves
2 pints cherry tomatoes
1/4 cup chopped basil
6 tablespoons olive oil, plus more for drizzling
1/4 teaspoon kosher salt
1 teaspoon fresh ground black pepper
Salt to taste
1 pound dry linguine
1 teaspoon crushed red pepper flakes or 1-2 small dried red peppers
1/2 cup dry white wine
4 dozen littleneck clams, scrubbed
1 can minced clams
1/4 cup chopped parsley (plus more for garnish)

Heat the oven to 450 degrees. Smash and peel 12 garlic cloves; peel and finely chop the remaining 8. Toss the smashed garlic with the tomatoes, basil, 2 tablespoons oil, salt,and 1/4 teaspoon black pepper. Spread out in a layer in one or two baking pans (make sure they aren’t too crowded, so they don’t steam) and roast the tomatoes, tossing occasionally, until they split open, 15 to 20 minutes.

Cook the pasta in a large pot of salted water until it is 2 minutes from being done to taste. Drain.

Return the pasta pot to medium-high heat. Warm 4 tablespoons oil in the pot. Add the chopped garlic and red pepper flakes; cook for 30 seconds. Add the wine and let simmer 2 minutes. Stir in the roasted tomatoes and garlic. Add the clams. Cover the pot and cook until the clams open, 5 to 10 minutes. Use tongs to transfer open clams to a bowl; discard any that do not open.

Add the pasta and 3/4 teaspoon black pepper to the sauce in the pot. Cook, tossing, until pasta is just cooked through. Return the clams to the pot and toss with the pasta and parsley. Divide mixture among serving bowls. Garnish with a little more parsley if you want and drizzle with more oil.

Remembering Steve Jobs – A Round-up of Reads and Memories

Just spent an hour or so at my IMac in my own personal memorial to Steve Jobs, reading everything I could get my mouse on about him. Thought I’d share a bit of what I found, the best of which is his commencement speech at Stanford in 2005, something I’ve watched several times before but can’t listen to enough. When I get up the guts to really follow his advice, I’ll let you know.

A truly great man. A truly great loss.

Does Sharing Contest Invitations on Facebook Increase Your Chances of Winning? Do the Math.

“Jean Georges Dinner”, reads the message title in my in-box. That’s enough to get my attention, spam or no. I open the email. It’s a contest at Bloomspot for a seasonal wine tasting and pairing for two at Jean Georges.

That’s a no-brainer. I click the link embedded in the email, fill in my email, zip code and city, and click Enter. Jean Georges here I come! Wait, what’s this?…

Increase your chances. INVITE FRIENDS.
Get a bonus sweepstakes entry for each friend who enters.

Hmmm… “Increase your chances” Chances of what? I notice they did not say “increase your chances OF WINNING”.

Now I’m not dumb. I know that increasing the contestant pool is not a good thing when it comes to improving one’s odds of winning a contest.

But they are giving me additional contest entries. Doesn’t each additional entry effectively double the odds in my favor? Hmmm…This may not be as simple as it looks.

Time to do some math.

(I know, I know…I have much better things I should be doing with my time. But I just saw Moneyball, and am re-enamored with statistics. And you know me, ADD-girl,  I just head where my brain takes me… )

It’s interesting when you do the numbers. Those extra contest entries you get for sharing on Facebook initially do increase your absolute odds of winning. But those odds only stay increased if the pool of contestants doesn’t grow or move more than a level or two beyond the initial share. Because once it does, the whole thing actually starts to work against you and everyone else, and your absolute odds of winning become really, really low. At which point, having more shares actually increases your relative odds of winning over having less shares.

Let me show you…

  • Suppose I am the 100th entrant into the contest. My chances of winning are 1/100 or 0.01.  I send you a Facebook invite, and you enter. Now my chances are 2/102 or 0.0196. Hey, it worked! I increased my chances!
  • So I send an invite to a second friend, who also enters. Now my chances are 3/104 or 0.028. Whoo-hoo! Sharing is power! But wait –
  • What if my first and second friend each invite two friends? This dilutes my odds, but actually not by much.  My chances are now 3/112 or .0267.  I’m still ahead.
  • But what if 10 friends accept the invitation, and each friend has another 10 friends who accept it, and each of those has 10 friends who accept it?  Then my odds become 11/2320 or .004 – lower than they were when I first entered the contest!
  • On the other hand, my friends and I are not the only ones in this contest. Suppose, when all is said and done, the contest has 50,000 entries, including me and my pool of friends and our 2219 entries (excluding the initial 99 entries before I joined).
    • My odds with sharing would be 11 in 50,000 or .00022.
    • My odds without sharing would be 1 in 47,781 or .00002. So sharing increased my odds by tenfold – but just  look how low all of our odds have become!
  • What if I and the first 100 entrants decided not to share with anyone else on Facebook? We’d all have much better odds than we’d ever have by sharing. But talk about trying to get the cat back into the bag…

Bottom Line

Sharing contest invitations on Facebook is fun, but the more everyone shares, the lower the odds of winning for everyone. (So stop sharing everyone, will you?…) Once a contest gets big, sharing can increase your minuscule odds of winning to slightly less minuscule, so you might as well go for the big share and enjoy the ride. Understand you are sharing your email address, effectively building up a mailing list for the contest sponsor, which was probably the whole point of the contest in the first place.

If you really want to win something, stick to your church raffle. The odds are much better.

And if you want to keep your odds up in a contest, definitely do not blog about it, since now you’ve told everyone, and you didn’t even get a single extra sweepstakes entry.

Biking the Harlem Valley Rail Trail

Where the Metro North Railroad line ends in Wassaic, New York

is where the Harlem Valley Rail Trail begins.

From there, its 10.7 miles of paved riding past farms

fields,

and wetlands,

through forests,

and along stretches of Rte 20 and then narrow country lanes

to Millerton, NY.

There you can stop for a tea tasting or a bite at the Harvey & Sons Tea Factory Shop,

visit Gilmor Glass Works,

or shop for books, antiques or bicycle gear,

before heading back the way you came, to the train station at Wassaic and then home.

Of course, if you wanted to bring along a picnic lunch, you could have picked up provisions at Cousins Market just down the road from the train station in Wassaic,

where they make great sandwiches using homemade roasted peppers.

Which is what we did.

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The entire Harlem Valley Rail Trail, when it is finished, will run 46 miles from Wassiac to Chatham, NY. Much of the trail north of Millerton is still under development, though the stretch from Under Mountain Road to Copake Falls Station is complete. One can put together a longer ride than ours (We did a total of about 22 miles round trip) if you are willing to head off the trail onto nearby (hilly) roads.  

The Fine Line Between Blogging and Giving Medical Advice – or Why I Finally Wrote a Disclaimer

Just yesterday, I put up a post about the recent birth control pill recall. This recall is a big deal – millions of women are potentially impacted, and the adverse effect – an unplanned pregnancy – is very significant.

I knew women taking these pills would be very worried, and wanted very much to do more than just spit out the press release from the FDA. I wanted to both reassure women and give them information that they could use other than just a link and a phone number. I also needed to figure out  how I would be handing the recall in my own practice. So I combined the two and posted what I’ll be telling my patients to do if they find that they are taking a recalled pill pack.

As soon as the post went up, I got worried.

What if the advice I was giving my patients was not what other docs might do for their patients? What if patients misconstrued it, or had an individual situation that warranted some other approach ? (I couldn’t figure out what that might be, but that’s why it’s called individual.) What were the pharmacies and the pill manufacturers telling these women to do?

I knew that the advice I would be giving my patients was reasonable. The two weeks I was telling them to use backup contraception was double that recommended for women starting pills more than 3 days after their menses. The additional pregnancy tests I recommended were more than ample for detecting a pregnancy as early as possible, without leaving the chance that it was too early to be detected. This is bread and butter gynecology, folks. It’s what I do every day, and I can do it in my sleep. It’s no different than me telling women what they should do if they miss a pill in  pack. (Repeat after me -Take two the next day.)

But this just felt different. Probably because it is a unique situation for which there is no published consensus or package labeling. And because the whole scenario is ripe for lawsuits. It’s a birth control pill recall, for god’s sake.

I debated taking out the information about what I’ll be doing in my practice. But I’d be damned if this blog was going to turn into nothing more than a newsfeed. Where’s the value added that my readers get from me being a doctor? No. I was going to keep the post as it was. With one small change.

I made it very clear in the post that this was advice I was giving to my patients, not advice I was giving to my readers. And I told the readers to talk to their own doctor about what to do.

Most importantly, I finally did what every medical blogger should do, and what I should have done years ago on this blog. I wrote a disclaimer, and linked to it prominently, both in my navigation bar and on my “About” page.

Suddenly, I feel better.

If you’re a blogger, and don’t yet have a disclaimer, it’s time to write and post one. Here are a few links I found helpful in writing mine –

Birth Control Pill Packaging Error Leads to Recall – Tell Someone

CLICK HERE FOR INFORMATION ON THE FEB 1, 2012 PFIZER BIRTH CONTROL PILL RECALL.

A recall has been issued for certain brands of generic birth control pills. The pills have been recalled because they were packaged incorrectly, which could lead to unplanned pregnancies. Essentially, the pills were packaged upside down. This could lead women to take an extra week of placebos at the beginning, rather than the end of the pack, leaving them unprotected against pregnancy.

Brands affected are –

  • Cyclafem(TM) 7/7/7
  • Cyclafem(TM) 1/35
  • Emoquette(TM)
  • Gildess® FE 1.5/30
  • Gildess® FE 1/20
  • Orsythia(TM)
  • Previfem ®
  • Tri-Previfem®

What should you do if you’re taking a recalled pack?

If you’re taking one of these brands, don’t panic. First check to see if you are taking an affected lot by going to http://www.qualitestrx.com/pdf/OCRecall.pdf. Your pill’s lot number should be on your pill card or pack. A tip off that you have an affected pack is that the seven days of placebos, which are a week of different colored pills than the rest of the pack, are at the beginning of the pack. Pill users can call 1-877-300-6153 between 8 a.m. and 5 p.m. CT for further information. You can also head to your pharmacist for help.

Talk to your doctor about what you should do if you are taking a recalled pack.

Here’s what I’ll be telling my affected patients. (Disclaimer – what follows is information about advice I will be giving my patients. What your doctor may want you to do could differ. Talk to your doctor if you are taking an affected lot of pills )

  • If you’re taking a recalled lot of pills, head immediately to the pharmacy for a new pack.
  • If you’ve been sexually active since your last period, do a pregnancy test. If it’s negative (and it most likely will be negative), start your new pack immediately and use condoms for the next two weeks. Your next period should come at the end of your new pack of pills. If it does not, do another pregnancy test. If you don’t want to wait till then to be sure you’re not pregnant, you can do a second pregnancy test two to three weeks after the first.
  • If you haven’t been sexually active, no harm has been done. Get a new pack and start it right away. Use condoms if you have sex in the next two weeks.
  • If you’re pregnant, contact me. What you decide is up to you, but know that accidental exposure to normal doses of birth control pills in early pregnancy should not impact the pregnancy outcome.

I expect a message from my EMR very soon giving me a list of those patients known to be taking these brands so I can contact them personally. But most of the time, I have no idea which generics my patients have been given until they come back next year for their annual or call for a refill. But the pharmacy and their insurer know which pills my patients are taking. Hopefully their databases are kicking into gear to rapidly identify and contact affected pill users. The lawyers are probably kicking into gear even faster…

Confounding Confounders!

“Let me never be confounded”

Ben Goldacre does a great job explaining why you can’t always take a headline about a research study at face value. Readers need to understand the concept of something called “confounding variables” – not always so obvious factors that can explain away associations that looks causal but in fact are nothing more than coincidence.

Why does he care? Because the media still keeps reporting unadjusted findings in headlines, only to use the last sentence in their article to say “Never mind – there’s a whole ‘nother reason why what we said in the headline really isn’t true”.

Goldacre uses the theoretical example of how drinking is linked to higher rates of lung cancer – until one takes into account the fact that drinkers tend to smoke more. Then – Voila! The association between drinking and cancer disappears and the real troublemaker – nicotine – is unearthed.

Required reading for science writers and lay readers alike.

And that video up there?

It just may probably be the best choral song ever written, and the most fun I have ever sung – In Thee Have I Trusted, from Handel’s Dettingen Te Deum. (If you don’t have time to listen to it all, start around 2:40 – the end is the best part…)

It has just two lines –

Oh Lord in Thee I trusted
Let me never be confounded.

“Let me never be counfounded.” Best song line ever. It is my mantra.

Un-linking Menopause from Heart Disease – A New Paradigm?

The idea that heart disease mortality rises dramatically at menopause has been one of the truisms of medicine that spawned a generation of hormone use by women and led to the rise and subsequent fall of Prempro in the Women’s Health Initiative, the end-all-be-all study that failed to prove the truism. The truism is still so strongly believed that research to prove it right continues, using different hormone formulations and different cohorts of women, in the hopes that the hormonal fountain of youth was just misbranded and given to the wrong aged cohort.

Now comes a landmark study that suggests that what we’ve thought all along about heart disease and menopause may actually be wrong.

Dhananjay Vaidya and colleagues at Johns Hopkins and the University of Alabama have re-analyzed mortality data on men and women in the UK and US and concluded that, contrary to popular belief, heart disease rates and mortality do not increase dramatically with menopause, but rather rise more gradually as a function of age in both men and women.

“Our data show there is no big shift toward higher fatal heart attack rates after menopause,” said study leader Dhananjay Vaidya, an assistant professor of medicine at the Johns Hopkins University School of Medicine. “What we believe is going on is that the cells of the heart and arteries are aging like every other tissue in the body, and that is why we see more and more heart attacks every year as women age. Aging itself is an adequate explanation, and the arrival of menopause with its altered hormonal impact does not seem to play a role.”

Statistical mumbo-jumbo

(I am no statistician, so what follows is my own interpretation of what I read in the paper. )

The researchers  use of logarithmic instead of linear graphing of statistical data, and state that it is a better way to measure associations such as heart disease with age. What I think they are saying is that it is better to describe mortality at a given point in time as a proportion of previous mortality than to graph absolute mortality rates at different points in time.  They state that their way of looking at the data aligns more with heart disease being a function of aging and loss of repair mechanisms with time, as opposed to some dramatic external force changing the curve at a given time. By restricting the analysis to various ageing cohorts over time, they also can compensate somewhat for improvements in prevention(such as statins) that can affect heart disease rates in a younger populations compared to, say, their parents.

A Very Compelling Argument

I have to say after reading the paper that that Vaidya and colleagues make a very compelling argument for rethinking the old truisms that have had us looking to estrogen as the holy grail of heart disease prevention in women.

However compelling, the study does not change anything at the moment in my clinical practice, since I do not prescribe hormones for heart disease prevention. I will continue to offer HRT as one of several treatment options for women suffering from menopausal symptoms, so long as they understand its risks as well as benefits. (See my 10 Rules for Prescribing HRT)

The Breast Cancer Mortality Data is Even More Interesting

Even more interesting was the researchers’ finding that breast cancer mortality, in contrast to breast cancer incidence, decreases dramatically at menopause.

This would argue strongly against the routine use of hormone replacement in menopause. It also would argue that the bang for the buck in mammogram screening may be better spent on younger than older women, something that flies in the face of the recent USPSTF recommendations to back off on one-size fits all routine mammograms in younger women.

Wow.

This is really fascinating stuff. It really turns the so-called window hypothesis on its head. (The window hypothesis says that there is a small window of time around menopause in which to start HRT to get it’s cardiac benefits, and that starting it too late, as was done in the WHI, actually can be harmful.)

The study also  hammers the biggest nail yet into the coffin of HRT as the anti-aging cure for all women.

I can’t wait to hear this study discussed at the upcoming Menopause Society Meetings in Washington.  So glad I am going – this is sure to be one interesting meeting. Stay tuned…

 

NYC Cricket

New York City may be densely populated with people, but the cricket density is pretty darned low – like maybe one cricket in the whole darned city – and guess where it is? Yep – it’s on my rooftop.

This means that while you folks in rural America are being serenaded to sleep by a soft background hum of millions of crickets –

here’s what I have to listen to –

Any suggestions on how I’m supposed to get to sleep tonight? How long do crickets live, anyway?

Book Launch!

It’s not like I and my fellow authors will be heading on a book tour or be invited onto Oprah anytime soon (especially since she’s off the air, but you get my point…), but I am so proud to announce that the American Academy of Pediatrics Textbook of Adolescent Healthcare has finally been published!

I wrote the chapter on contraception, but it’s just a teeny-tiny piece of this amazingly comprehensive text, available either in hardcopy or as an e-book from the AAP Bookstore.

Congratulations and thanks to the hard-working editors, especially Elizabeth Alderman, MD at Montefiore, and to Diane Lundquist at AAP, for their long and hard work on this wonderful project.

I’m honored to be a part of so esteemed an academic community as the physicians who have written and edited this textbook.