Pregnancy and Childbirth with Neuromuscular Disease
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Pregnancy and Childbirth with Neuromuscular Disease by Margaret Wahl, Amy Labbe and Miriam Davidson aving a baby can be the most thrilling and rewarding experience of a woman’s Hlife, yet it also can be fraught with fear and uncertainty. This is especially true for women with neuromuscular disease. This special MDA report takes a look at the issues that arise for expectant mothers with muscle disease and finds that, with proper care and planning, these women are usually — although not always — able to have successful pregnancies and give birth to healthy children. The report contains information from the July-September 2010 issue of MDA’s Quest magazine, as well as additional information not found in the print magazine. Contents include: Caution, Preparation and Teamwork Lead to the Best Pregnancy Outcomes in Women with Neuromuscular Diseases. 2 Disease-Specific Complications (chart). 7 Good Advice from Women Who’ve Been There. ..11 Medication Complications for Pregnant Women with Neuromuscular Disease (chart). 17 Personal Stories Diagnosis Later in Life. 3 Baby Born with Challenges. 4 Scared and Worried. 6 Achieving All Her Goals . 9 Worth the Effort . 10 The Nurse Called It ‘Fred’s Ataxia’. 12 A Turn of Fate. 15 Surprise Pregnancies. 16 In addition, listen to a podcast of an interview with neurologist Emma Ciafaloni and obstetrician Eva Pressman by going to quest.mda.org/podcasts. 1 Caution, Preparation and Teamwork Lead to the Best Pregnancy Outcomes in Women with Neuromuscular Diseases hen Emma Ciafaloni was prepar- veyed reported worsen- Wing to become a neuromuscular ing of FSHD symptoms disease specialist in the 1990s, and that for the most part did even when she directed the MDA not resolve after child- neuromuscular disease clinic at Duke birth. The most common University in the early 2000s, she was problems were, in order struck by the lack of information she of frequency: worsening could offer patients who wanted to of generalized weakness, become pregnant. frequent falling, difficulty “I really have an interest in women carrying the newborn and neuromuscular diseases, in what due to worsening shoul- we can do better for them in dealing der weakness, worsening with their neuromuscular disease and or new-onset pain, and also with pregnancy,” says Ciafaloni, difficulty carrying the now at the University of Rochester newborn due to worsen- Medical Center, where she sees patients ing of leg weakness. An echocardiogram to evaluate heart function prior to becoming pregnant can help with decision making. in the MDA clinic and has received Despite some child- MDA research support. birth complications and possible per- First, some red flags: “I’m very interested in how to best manent worsening of their FSHD, 90 care for patients. I’m not the one who’s percent of the women said they would Cardiac involvement going to discover the treatment for choose pregnancy again. Cardiac involvement can occur in many FSHD [facioscapulohumeral muscular Eva Pressman, director of maternal- neuromuscular diseases and, if it’s dystrophy] or myotonic dystrophy, but fetal medicine at the University of severe, can be a major problem for I’m very interested in good standards Rochester, collaborated with Ciafaloni women considering pregnancy. of care.” and others on the FSHD study. “The Pregnancy leads to a significant Ciafaloni’s interest ultimately led her important thing about our study was increase in cardiac output, as well as a to collaborate with several colleagues that the outcomes were really good,” 50-percent increase in blood volume, in the departments of neurology and she says. “It’s important for patients so the heart does “much, much more obstetrics and gynecology to conduct to know that just because they have an work,” says Pressman. “And if you go a study of pregnancy in women with underlying disorder, that doesn’t mean into the pregnancy with a heart that’s FSHD. The results were published in that pregnancy is contraindicated. With functioning less than optimally, it will 2006 in the journal Neurology. appropriate monitoring and going into clearly deteriorate over the course of The researchers administered ques- the pregnancy with your eyes open as the pregnancy. That can lead to heart tionnaires to, and reviewed the medical to what the risks might be, I think most failure in the mother and endanger both records of, 38 women with FSHD. On patients can be quite successful.” the mother and the fetus, depending the whole, pregnancy outcomes were But not all neuromuscular disorders, on when in the pregnancy those issues good in this group, although the rates let alone all women or all babies, are occur. The most common time for heart of operative deliveries (Caesareans the same. And even with conditions problems is the end of the second and forceps deliveries) and babies with like FSHD, where the odds of having a trimester or the beginning of the third low birth weights were higher than the successful outcome appear to be good, trimester.” national average. there are steps women can take to Pressman strongly recommends About one in four of the women sur- improve them. that patients who are at risk for cardiac 2 dysfunction have echocardiograms existing impairment can become more before pregnancy to evaluate their problematic. heart function and “really consider not “We see women who have reason- becoming pregnant if they have signifi- able respiratory function prior to preg- cant cardiac dysfunction.” nancy that deteriorate as the pregnancy And if they’re already pregnant and progresses,” Pressman says. They want to continue the pregnancy despite generally recover to their pre-pregnancy their heart problem? “Then you do the level after delivery, she notes, but they best you can,” Pressman says. “You may require extra support (such as can manage some of it with medica- noninvasive assisted ventilation) during tions, you can keep their fluid status the pregnancy. at an optimal level, and we can usually Says Pressman, “We often end up get them through to the point where delivering a little bit early, because the the baby is viable. But often we deliver respiratory impairment only gets worse these patients early, to minimize the towards the end of pregnancy, and stress on the heart.” sometimes the safest thing is to not be pregnant anymore.” Immunosuppressant medications that aren’t Weak respiratory muscles corticosteroids can pose some problems. See Weakness of the respiratory muscles Unstable autoimmune disease “Medication Complications for Pregnant Women with Neuromuscular Disease” on page 17. can also be a problem for pregnant It’s critical that women with autoim- women with muscle disease. As the mune disease are medically stable and they try to get pregnant, says Hannah pregnancy progresses, the work of on a stable regimen of medications Briemberg, a neurologist and assistant breathing becomes harder, so any for at least six to 12 months before professor in the neuromuscular dis- Diagnosis the natural way and almost lost her,” Rivera recalled. “I had to Late in Life have an emergency C-section [Caesarean], and she had to be resuscitated.” During her second pregnancy at age 33, Rivera’s still-undi- Kathy Rivera, 58 agnosed CMT noticeably worsened. Her legs were so sore when Tucson, Ariz. she woke up that she couldn’t get out of bed. “We put the bed type 2 Charcot- next to the wall so I could climb up the wall to get to a standing Marie-Tooth disease position. I thought, ‘I’m not having any more kids.’” As with her first pregnancy, Rivera had high blood sugar. Her ike many people son was born healthy via a planned C-section. with Charcot- L Rivera’s symptoms continued to worsen, and it was her Marie-Tooth (CMT), Kathy Rivera, her husband, Tom, and their two daughter who convinced her to see a neurologist. “My 6-year-old Kathy Rivera didn’t children, in 1985 said to me, ‘Mom, why don’t you pick up your feet?’” realize she had a neuro- Today, Rivera wears braces on both legs and no longer muscular disease until relatively late in life. Called “clumsy” as a works. She loved her job as a bakery manager at Safeway, but child, she wore special shoes to keep her feet facing forward, but her doctor advised her to quit. In recent years, Rivera has devel- didn’t receive an official diagnosis of CMT until age 36. oped nerve compression requiring surgery in both wrists (likely Rivera received almost no medical care growing up, which related to CMT) and spinal cord inflammation (which may or partially explains the late diagnosis. She moved a lot, spent time may not be related to CMT). in foster care and was raised primarily by an uncle. Her symp- Rivera believes her now-adult daughter may have CMT too, toms were shrugged off as “growing pains.” although she’s never been tested. Her daughter decided not to Rivera married and had her first child, a healthy girl, at age have children, but instead adopted a little girl. In an ironic twist, 27. For reasons probably unrelated to CMT, Rivera had high Rivera’s adopted grandchild has muscle problems and is being blood sugar during the pregnancy and, during the birth, her tested at the MDA clinic in Tucson for possible neuromuscular cervix (entrance to the uterus) didn’t open. “I tried to give birth disease — receiving the care and attention that Rivera never did. 3 Baby Born with from muscle weakness). She almost didn’t survive her first night Challenges and had to be rushed to a hospital that had a neonatal intensive care unit, where she spent six weeks before her parents could Liz Trumpy, 39 take her home.