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Life Lessons From An Ultra Rare, Potentially Fatal Disease

Sue Levy and her family on vacation in Buenos Aires fall 2013. (Courtesy)

Sue Levy and her family on vacation in Buenos Aires fall 2013. (Courtesy)

By Dr. Annie Brewster
Guest contributor

What if you were suddenly diagnosed with a potentially fatal disease just when your life, work and marriage were on track and your plans to start a family were underway?

That’s what happened to Sue R. Levy.

In 2008, at age 37, she was diagnosed with Pulmonary Lymphangioleiomyomatosis, otherwise known as LAM, a rare, chronic, progressive lung disease in which the lungs fill up with cysts. The result is gradual destruction of the normal lung architecture, compromised breathing and, in many cases, an eventual lung transplant — a procedure with major risks. The LAM Foundation reports 10-year survival, following a lung transplant, at 47 percent.

Fueled by estrogen, LAM primarily affects women in their childbearing years. With only 1,300 documented cases in North America, LAM is poorly understood; currently, there are a few experimental medications in use, but no proven treatments exist.

Prior to the diagnosis, Sue, who lives in Brookline, Mass., had a successful career as a marketing executive, she was happily married, and she and her husband had decided to have kids. Though they struggled with infertility, undergoing six unsuccessful rounds of IVF, Sue still felt that this would work out eventually.

“My whole life I thought the way the world worked is that if you were a good person and you worked hard you could avoid bad things,” she said. LAM changed everything.

Suddenly, Sue was forced to redefine herself as someone with a chronic disease and squarely face her own mortality. In addition, she had to let go of some of her dreams, notably, her desire to get pregnant, as the high levels of estrogen associated with carrying a child would accelerate her lung destruction.

Initially, she was angry. But the disease helped her focus on what she really cares about: she went to school to study nutrition and became a natural foods chef. In 2011, inspired by her own healthier lifestyle changes, she quit her marketing job and started Savory Living-Healthy Eating, a nutrition and health company that provides online healthy eating and cooking classes.

In addition, Sue and her husband now have two young daughters, conceived using egg donors and a gestational carrier.

Listen to Sue’s story here:

Interview highlights:

From ‘Healthy’ To ‘Terrifying’

If you had asked me before my LAM diagnosis I would have told you that I was a healthy person, that I am living a healthy life. There isn’t a disease in my family. This is something I don’t have to worry about and I’m doing great. What was so interesting is that the signs couldn’t have been clearer that I wasn’t. I was heavier, the energy wasn’t great. I had a lot of digestive problems and I faced infertility. But I just thought that was the way life was. I had had a lot of pain and it felt almost like this boa constrictor was around my midsection squeezing my rib cage.

So I went to the doctor and he said ‘You know I’m worried that maybe you have a blood clot in your lung, I want to go get a CT scan.’ And they did the scan and on our way back to our house I got a call from the doctor and he said ‘You need to come in right away,’ and I said ‘Oh, is it a blood clot in my lung?’ And he said no. And I said ‘Oh great!’ And he said ‘No, you need to come in right away.’

We got into the office and he actually said to me because he knew we were trying to conceive, and he said, ‘Life as you know it is about to change considerably. Continue reading

Tinkering With Baby’s Genes: FDA Reviews Controversial Fertility Technique

By Karen Weintraub
Guest Contributor

FDA hearings in Washington this week have raised an ethical quandary: If we have the scientific power to help a sick woman give birth to healthy children, should we do it? Even if it requires us to cross an ethical line in the sand drawn decades ago by hundreds of nations worldwide?

A reproductive biologist from the Oregon Health and Science University in Beaverton, Shoukhrat Mitalipov, has asked the federal government for permission to test an unprecedented gene replacement technique in people. If he succeeds, women with mitochondrial diseases will be able to have their own, biological children, without passing on their disease.

But some others worry that this research will open up an ethical Pandora’s Box, legitimizing human genome manipulation. Plus, they say, the science is premature. This technique has only been tested in a handful of monkeys and it’s way too early to try in people, they say.

At root is some pretty technical science in an area that’s not yet well understood.
Mitochondrial disease is driven by mistakes in the 37 genes that drive the mitochondria — which, as you might remember from freshman biology, provide every cell with energy. Mitochondria is passed down from mother to child; the father’s mitochondria dies with him.

Mitalipov wants to get rid of the mother’s flawed mitochondria and replace them with a healthy donor’s. He would take the nucleus of an egg cell from the sick woman and implant it in an egg cell from a healthy donor, after the donor’s nucleus has been removed. When the egg is fertilized, the 20,000 genes in the mother’s nuclear genome will mix with the same number from the father’s, plus 37 healthy genes from the mitochondria of the donor. The result, Mitalipov says, will be a normal child.

Not everyone agrees with that last point. Even if the child appears healthy, it’s possible that it will have genetic problems during development, later in life or that will only appear when that child has children.

Sharon and Alana Aaarinen/Photo: Karen Weintraub

Sharon and Alana Aaarinen/Photo: Karen Weintraub

One potential problem: some of the mother’s unhealthy mitochondria will survive the transfer and show up in the child, unnoticed perhaps for generations, before another descendent gets sick. Mitalipov says this is impossible, that his technique promises nearly 100 percent swap of mitochondria, but some scientists remain unconvinced.

Mixing mitochondria from two “mothers” can put mice at higher risk for diabetes, stroke and heart disease, according to research.

Continue reading

The New Fertility Frontier: A Child With Three Biological Parents

Sharon and Alana Aaarinen (Karen Weintraub)

Sharon and Alana Aaarinen (Karen Weintraub)

Don’t miss this fascinating story by CommonHealth contributor Karen Weintraub detailing an ethically questionable new fertility treatment that involves three biological parents in order to avoid a rare but devastating mitochondrial disease.

Here’s the top of the piece, published in today’s New York Times:

Alana Saarinen sat at the piano, playing smoothly and with feeling. Behind her, plastic toys shared floor space with a book of plays she’d been writing. Her mother beamed.

Alana is apparently a normal, well-adjusted 13-year-old. But there is something extraordinary about her — every cell in her body is different in a way that is nearly unprecedented.

Alana was conceived with genetic material from three parents: Sharon and Paul Saarinen, who provided the egg and sperm, and a second woman who contributed genes to Alana’s mitochondria, the tiny power plants that fuel every cell.

The experimental technique making this possible — a cytoplasmic transfer, in Alana’s case — was halted by the Food and Drug Administration in 2001. Now, despite uncertainties about its safety, scientists in the United States and the United Kingdom are urging legalization of a more targeted version. Critics say it hasn’t been adequately studied and crosses the line into genetic engineering.

The story also explores the origins of the experimental cytoplasmic transfer and explains how the technique is being improved. Karen adds this in an email:

Researchers never followed the children born in the late 1990s and 2000s of this cytoplasm transfer technique, so it’s not clear what the risks are of this form of conception. Continue reading

Stud Study: Sperm Quality Better In Athletes, Worse In Heavy TV-Watchers

sperm

Guys, anybody need a boost off the couch in the wake of the Super Bowl? Here you go: A new study from researchers at the Harvard School of Public Health suggests that turning off your TV and getting back into playing sports rather than just watching them could be good for your sperm quality.

The study, just out online in the British Journal of Sports Medicine, surveyed 189 college-age men at the University of Rochester about their exercise and TV habits, along with health-related questions about diet, smoking and stress. It also analyzed their semen quality.

Lead author Audrey Gaskins, a Harvard doctoral student, sums up the results: “Men who were in the top category of physical activity, which translated into 15 hours or more per week, had 73 percent higher sperm counts than those who exercised for less than five hours a week.”

“Then we looked at TV-watching and found that the men who watched the most TV — more than 20 hours per week — had 44% lower sperm counts compared to men who watched almost no TV. Our results show that modifiable lifestyle factors — physical activity and TV watching — could have a big impact on sperm count.”

Research over the last several years has suggested that semen quality has been declining in most Western countries. Gaskins says the new study’s motivation was to determine whether sedentary lifestyles might explain that decline. It controlled for several other factors that might have been at work, including stress levels, smoking and diet. Continue reading

Getting Better At Predicting Twins: Boston IVF Study

twins
This is the longstanding in-vitro-fertilization dilemma: You’ve made your embryos in the lab. A few look good. Now, how many do you transfer into the would-be mother? If you transfer just one, it may fail to grow and she won’t get pregnant at all. If you transfer two or more, she may end up with twins or higher multiples, with the added risks they bring.

Now, a new paper just out in the journal Fertility and Sterility reports that it’s possible to predict with much-improved accuracy just how likely a given couple is to have twins. It finds striking differences in the chances that a given patient will have twins if two embryos are transferred, ranging from about 12% to about 55%.

You can just imagine how the statistical tool the researchers used — which belongs to a private company, Univfy — could play out in clinic conversations: “Ms. Jones, we could transfer two embryos, but you’d then have a 55% chance of having twins. Perhaps we should do a single-embryo transfer?”

What affects the chances of twins? The study’s press release says: “Variables that most affected chances of multiple birth among the Boston IVF patients studied include age, number of four-cell embryos, total motile sperm, serum peak estradiol level, and Day 3 FSH levels.” (Those last two are hormones in the woman.)

More from the press release:

Says Dr. Alan Penzias, surgical director at Boston IVF: “As happy as it seems when someone has twins, the risks in even a twin pregnancy are significantly higher than for a singleton. With the tool that Univfy has developed, we’re able to get an idea if someone has a relatively low risk or an exceptionally high risk of a multiple pregnancy. Depending on their chances, we can counsel them to put in one embryo to minimize the risk of multiples or two embryos to boost their odds of getting pregnant at all.” Continue reading

Checking Your Sperm Count With Help From The Local Pharmacy

Is your sperm up to the task?

Soon, along with picking up prescriptions and getting a flu shot, men will be able to purchase a quick fertility test at the neighborhood drugstore.

Bloomberg reports that starting in April, Walgreen’s and CVS will sell a new product, SpermCheck, which will enable men to determine if they are fertile enough to get women pregnant. It’s being marketed as a way to “bridge the fertility gap” in which the burden is currently on women to establish their fertility.

In April, Walgreen’s 7,800 U.S. stores plan to start selling a fertility test that determines if a man is producing enough sperm to get a woman pregnant. Walgreen and CVS have already started selling SpermCheck Fertility online.

The blue-and-gold box, which features a smiling couple holding a newborn, will join more than two dozen varieties of female fertility tests in Walgreen stores. SpermCheck’s owner and distributor, closely held ContraVac Inc., is banking on women dropping an extra $40 for the test when they buy ovulation and pregnancy kits for themselves. Continue reading

The Yoga Effect: When Older Women Overestimate Their Fertility

Has yoga and better health made older women ignore their biological clocks?

The storyline in a bunch of recent articles suggests that older women have become somewhat delusional about their ability to get pregnant, wrongly assuming that good health and sexy biceps can trump the hard deadline imposed by their own biological clocks. Blame it on yoga, among other culprits, which makes us look and feel younger and helps us harbor illusions of nearly eternal fertility.

The most recent piece — based on a survey sponsored by the drug maker EMD Serono — ran on NPR today.

It found that women seem to be clueless that getting pregnant after 30 or 35 can be extremely tough and rife with complications (which, incidentally, is the title of The New Yorker article written a few years back by the late feminist playwright Wendy Wasserstein about giving birth to a daughter at age 48. An excellent new biography of Wasserstein, by former Wall Street Journal reporter Julie Salamon, offers additional sad and chilling details about Wasserstein’s secretive pregnancy, her death at age 55 and the little girl, Lucy Jane, she left behind. Just to be clear, the yoga effect did not play into Wasserstein’s late-in-life pregnancy — other forces were at work. Read the book.)

Here’s a bit of the NPR piece:

The fastest-growing rates of childbearing are for those 40 and older. Continue reading

Study: Stress During Fertility Treatment Does Not Hinder Pregnancy


No question, trying to get pregnant can be stressful. There’s an outcome you desperately want, and — aside from “trying” in the bedroom or the fertility clinic — there’s not much you can do to make it happen. Little wonder that would-be mothers get a lot of stress-relief advice. And it sometimes crosses over into “If you can just relax, that will help you have a baby.”

Not so, says a new paper just out in BMJ, formerly known as the British Medical Journal. It analyzed 14 previous studies of more than 3,500 women in fertility treatment, looking at the relationship between stress and successful pregnancy.

The conclusion: “Women undergoing IVF or other assisted reproduction therapy can be reassured that emotional distress caused by their infertility or other life events will not prevent the treatment from working.”

From the press release:

The authors, led by Professor Jacky Boivin from the Cardiff Fertility Studies Research Group, investigated links between the success of fertility treatment and stress by undertaking a large scale review (meta-analysis) of related research.

Fourteen studies with 3,583 infertile women undergoing a cycle of fertility treatment were included in the review. The women were assessed before fertility treatment for anxiety and stress. The authors then compared data for women who achieved pregnancy and those who did not.

The results show that emotional distress was not associated with whether or not a woman became pregnant.

Professor Boivin therefore argues that “these findings should reassure women that emotional distress caused by fertility problems or other life events co-occurring with treatment will not compromise their chance of becoming pregnant”.

But Alice Domar, author of “Conquering Infertility” and director of the Domar Center for Mind/Body Health in Waltham, questions the study’s findings: Continue reading

BPA Linked To DNA Damage In Sperm

Researchers found evidence linking the chemical BPA to sperm damage

In what is being called “the first piece of epidemiologic evidence” that links the ubiquitous bisphenol A (BPA) to problems in human semen, Nature online reports on a study that finds exposure to the chemical (widely used in plastic bottles and other products) causes DNA damage in sperm.

De-Kun Li, an epidemiologist at Kaiser Permanente’s Division of Research in Oakland, California, says that while his new work may not provide enough evidence to ban BPA, consumers should now consider taking steps to limit their exposure.

Earlier this year, another team found a “preliminary association” between BPA and DNA damage in sperm, adding to previous evidence from animal studies that linked the chemical to fertility problems.

Writing in Fertility and Sterility, Li’s team say they have now obtained “the first piece of epidemiologic evidence” showing BPA impacts on human semen quality. Their study of 514 factory workers in China found that those with a detectable level of the chemical in their urine had an increased risk of lower semen quality than their non-exposed contemporaries.

“When you see this kind of association with semen you have to wonder what else BPA has an effect on,” says Li. As a precautionary principle, he adds, “Everybody should avoid BPA as much as you can.”