Pregnancy can be hard to imagine when you live with Gaucher disease. The disease can be draining and painful and requires a commitment to self-care—factors that don’t always make for an easy pregnancy. But Caryn, 42, has balanced the demands of Gaucher disease with pregnancy… five times.
Caryn was diagnosed with Gaucher disease at two years old. Until treatment was available, she was weak, anemic, and bone thin, spending her fair share of time in the hospital. At the age of eight, Caryn enrolled in the original NIH drug trial for Gaucher disease, which drastically improved her health. Now Caryn gets weekly infusions, and her Gaucher disease manifests mainly through bone symptoms, specifically bone pain and early-onset osteopenia (low bone-density).
“I don’t talk about having Gaucher very often because my time is so focused on my children, and because it’s normal to me by now,” Caryn says. “But it’s still a physical burden.”
Living with Gaucher disease can be especially challenging during pregnancy, but Caryn hasn’t let it stop her. She balances part-time work as an occupational therapist in an elementary school setting with caring for her four children, ages 2, 4, 10, and 13. Now, as she nears the end of her fifth pregnancy, she shares the lessons she’s learned:
1. Deciding How Many Children to Have While Living with Gaucher Disease is a Personal Choice
Living with an inherited chronic condition like Gaucher disease can make family planning complicated. You’ll face decisions about prenatal screening and genetic testing. You’ll have to consider how Gaucher impacts pregnancy and childbirth. But you also need to think about how these physical changes—and parenting in general—will affect how you manage your disease.
Your Gaucher disease doctor knows your unique symptoms and health history and can bring new concerns to light. Before each pregnancy, Caryn talked to her doctor about the possible risks of having another child.
She knew her low bone density would be challenging during pregnancy—she’d need a rigorous calcium regimen to support her own bones plus those of a developing fetus. Her doctor also mentioned the risks associated with bed rest, if needed for any substantial length of time. Extended bed rest can cause a rapid decrease in bone density that can lead to severe complications, such as bone fractures.
Caryn did a personal risk-benefit analysis and decided that the chances of an extended bed rest were low enough for her that she would take this risk. As each pregnancy passed without complication, Caryn’s risk of bed rest with future pregnancies went down. She felt comfortable taking the risk with each pregnancy.
Caryn also had concerns about possible bone loss from extended breastfeeding. Her doctor couldn’t offer much information on the topic, so Caryn did research on her own. She found some medical journal articles suggesting that lactation temporarily interrupts the normally occurring bone loss of adulthood. Caryn was hopeful that breastfeeding would not cause a net loss of bone density. But without substantial data available, she knew she’d need to be flexible and willing to transition the babies to formulas after a few months.
She didn’t end up needing to make an early transition to formula with her first four children. But she notes that women now have a wide variety of healthy formula options at their disposal—amazing news for women with Gaucher disease who might want to formula-feed their babies to protect their own bone health.
“How pregnancy might impact your health is likely to be a bit of a mystery to you and your doctor. I did a lot of contemplation about how much I would rely on my doctor’s opinion and how much of her opinion was just an opinion,” Caryn says. “Your doctor can advise you, but at the end of the day, this is a very personal, spiritual, and emotional decision.”
In the end, she didn’t feel that there was concrete evidence that pregnancy would be unsafe for her. Only her fifth pregnancy has been considered higher risk—due to her age, not Gaucher disease. She is due in January.
2. Pregnancy May Aggravate Your Gaucher symptoms
It’s not always clear how pregnancy will affect the symptoms of Gaucher disease—effects vary by individual. For Caryn, it wasn’t the pregnancy that increased her bone pain. Rather, the lack of sleep and rest associated with pregnancy caused many of her issues.
“Bone pain is managed by getting rest and sleep,” Caryn says. In her case, having children already makes it challenging to get the rest and sleep she needs. Add a pregnancy and it’s nearly impossible. “Each pregnancy makes it progressively harder to manage my bone pain. But it does return to baseline after about a year, when I am sleeping more at night. Sleeping by day is just not possible with the demands I balance.”
Lifestyle changes, such as getting less sleep, aren’t the only factors affecting Gaucher symptoms during pregnancy. People living with Gaucher also need to consider whether pregnancy will affect how they manage their chronic symptoms.
During pregnancy, Caryn doesn’t rely on her typical method of pain relief—an alternating pattern of ibuprofen and acetaminophen. Ibuprofen is not generally recommended after 20 weeks, and a recent consensus statement recommends additional research on the safety of acetaminophen during pregnancy. Caryn personally felt that the articles she read about potential risks of acetaminophen during pregnancy had merit, so she chose to limit use of the drug as much as possible.
“You might think that Gaucher would make me higher risk in pregnancy,” she says. “But the inverse is true. Pregnancy makes my Gaucher’s symptoms more aggravated and harder to manage.”
3. Managing Gaucher Disease While Pregnant Can Be Challenging but Worth It
Self-care needs to be a priority when living with Gaucher disease, even when pregnant. You still need to get your Gaucher treatment regularly (Caryn gets weekly infusions through home nursing) and do what you can to alleviate symptoms.
But pregnancy can bring self-care to a new level, says Caryn. The body’s nutritional needs change during pregnancy, and Gaucher disease can make it tricky to meet those needs. Anemia, a common pregnancy symptom in the third trimester, poses a more severe threat for people living with Gaucher disease and so does the typical calcium loss associated with pregnancy. Each concern calls for taking a supplement. But taking extra iron and calcium, as Caryn does, requires meticulous scheduling and dedication.
“In an ironic metabolic set-up, dietary iron blocks the absorption of dietary calcium, and calcium blocks the absorption of iron—you need to space them out by two hours,” says Caryn. She tries to take vitamin D to help her body absorb calcium and vitamin C to promote iron absorption. But those vitamins also have their own stipulations. “With a mostly vegetarian and dairy lifestyle, it’s hard for me to find four hours in the day by which iron can be taken apart from any dairy. Sometimes when I’m awake with my toddler in the middle of the night, I use that time to take iron. But it can upset your stomach. See? It’s not simple!”
But even when pregnancy with Gaucher disease is challenging (“10 out of 10 challenging when blessed with four kids to take care of” according to Caryn), she’s happy with her decision. “It’s very strange to willingly put myself in a position of no time for self-care and no time for myself, and to willingly add to my already chronic bone pain,” she says. “But I just love the miracle of having children, so I’ve chosen to do it all again, one more time.”
4. A Lifetime of Living with Gaucher Disease Makes You Uniquely Capable of Handling Pregnancy
Living with Gaucher disease for over 40 years hasn’t always been easy for Caryn. But she believes it has made her strong in valuable ways, especially concerning pregnancy and childbirth.
“My Gaucher disease has given me a sense of authority over my body,” she says. “I have a strong voice inside that says, ‘This is my body,’ and it benefits pregnancy. I’m assertive about what I will and will not do, and I’m more determined not to let any medical thing happen to me that I don’t choose.”
Caryn also believes that her experiences with Gaucher disease affected how she approached childbirth.
“All the medical interventions I’ve needed for GD, especially in my childhood, motivated me to strive for the most intervention-free birthing possible,” Caryn says. “I think that was my main motivation behind going epidural-free for all four births. Having Gaucher, I wanted to also see my body as strong and powerful and perfectly equipped to approach the amazing feat of giving birth. There’s nothing like it in the world.”
5. Focusing on What Recharges You Is Key
Managing pregnancy and Gaucher disease (while caring for your other kids, if you already have some) can keep you busy. But it can also distract you from hearing what your body needs. Listening to your body can go a long way in helping you feel healthy and happy.
“Pain wears on you sometimes in quiet ways and increases very slowly, without bells and whistles, in a way that makes it hard to recognize it is growing,” Caryn says. “By the time I focus on the pain I’m feeling, it’s usually been over an hour of feeling physically and mentally drained by it. And in pregnancy, that’s difficult.”
The key is finding the thing that recharges you. Caryn says she doesn’t always have time to put her feet up. And when they’re up, it only lasts a minute. Exercising can be challenging, especially at the end of a pregnancy. But she recognizes that as an extrovert, having time for social connections gives her renewed energy. Spending time with neighbors and friends can often recharge her for a week.
She also focuses on why she chose to have children. “I’m using the blessing I was given—a mostly normal adulthood after a childhood of being very ill—to create life and children who will hopefully enjoy positive childhood years,” she says.
“At the end of the day, it’s what I want. My husband is wonderful. And I’m blessed with the opportunity to have a large family, chaotic kitchen, constantly messy house, never-ending laundry and never a relaxed moment. The fact that I’ve been granted the ability to give birth four times so far is a big blessing. When I get my infusions, my two-year-old squeezes my hand for the needle prick. I pray that my Gaucher disease is a blessing in her life—a source of strength and courage, and that my successful management of Gaucher disease continues so that I can raise my children in good health.”
How the National Gaucher Foundation Can Help
If you or a loved one lives with Gaucher disease, the National Gaucher Foundation is here for your family. We offer resources to optimize your health with Gaucher disease and connect you with the support you need.
- Bone Health & Osteoporosis Foundation – Calcium and Vitamin D – https://www.bonehealthandosteoporosis.org/patients/treatment/calciumvitamin-d/
- JAMA Network – The Efficacy and Safety of Vitamin C for Iron Supplementation in Adult Patients With Iron Deficiency Anemia – https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2772395
- National Library of Medicine – Taking Iron Supplements – https://medlineplus.gov/ency/article/007478.htm
- Nature Reviews Endocrinology – Paracetamol use during pregnancy — a call for precautionary action Paracetamol use during pregnancy — a call for precautionary action – MedlinePlus Taking iron supplements https://medlineplus.gov/ency/article/007478.htm
- S. Food and Drug Administration – FDA recommends avoiding use of NSAIDs in pregnancy at 20 weeks or later because they can result in low amniotic fluid – https://www.fda.gov/drugs/drug-safety-and-availability/fda-recommends-avoiding-use-nsaids-pregnancy-20-weeks-or-later-because-they-can-result-low-amniotic