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This blog post is based on a Healthful Woman podcast episode in which Meredith, a mother in Ann Arbor, MI speaks with Dr. Fox about her pregnancy journey after being diagnosed with Gitelman syndrome, her child’s diagnosis of coarctation of the aorta, and more.

Meredith’s Gitelman Syndrome Diagnosis

Meredith was diagnosed with Gitelman syndrome, in 2018 a rare kidney condition. Her condition was discovered when she went to see a new primary care physician who ordered some labs, which showed that she had low potassium levels. Her primary care doctor referred her to a nephrologist or a doctor who specializes in kidney care, where they ordered further testing. Meredith was then diagnosed with Gitelman syndrome.

This disorder causes an imbalance of charged ions in the body, including the ions of potassium, magnesium, and calcium. In other words, the body cannot hold onto potassium or magnesium. The signs and symptoms of this syndrome can vary widely and may include muscle spasms, muscle weakness, dizziness, salt cravings, and more. Some affected individuals, like Meredith, have no symptoms at all.

To help treat Gitelman syndrome, Meredith was given a medication called Spironolactone. This is a blood pressure medication that has the side effect of causing your body to hold onto potassium.

Pregnancy Preparation with Gitelman Syndrome

Meredith eventually came to a time in her life when she wanted to have children. Because Spironolactone is not approved for pregnancy, her doctors explained that she would have to wean off of this medication before conceiving.

For advice and tips regarding pregnancy and Gitelman Syndrome, Meredith turned to other women in a Facebook group also living with this condition. “I’d asked and read a lot about people going through pregnancy with the condition, and most people said it was manageable,” she said. “They might have to get IV supplementation sometimes, but for the most part people had like pretty complication-free pregnancies, so I felt pretty confident that that would be fine.”

When Meredith informed her doctors of her desire to become pregnant, her nephrologist referred her to an MFM doctor at U of M, where she had a consult a few months before she started trying to conceive. The MFM doctor walked Meredith through what she could expect based on what she knew of the condition.  “They told me, ‘Just plan to give us a call when you get a positive test, and we’ll get you set up.’” Meredith explained.  Once all her ducks were in a row with her doctors, Meredith was free to try to conceive.

Pregnancy and Coarctation of the Aorta

Meredith was able to get pregnant quickly, and the beginning of her pregnancy was uneventful. She underwent her anatomy ultrasound at 20 weeks. “We were super excited,” Meredith said. “We hadn’t found out the gender to this point, and so, we went into that appointment feeling really excited for what was to come, and everything seemed to be fine.” However, Meredith’s excitement turned to unease once the ultrasound tech said they wanted to show the results to the doctor. The tech and physician explained they were concerned that her baby might have a condition known as coarctation of the aorta. They recommended that she follow up with a pediatric cardiologist.

Meredith made an appointment with a pediatric cardiologist and received an echocardiogram. There, the doctor confirmed that there was a narrowing of the aorta and that the baby might need surgery after being born.  “They had said, ‘Once he’s born, we can maybe give you an hour with him.’ And I remember hearing that just gutted me.” Meredith explained.

The pediatric cardiologist also explained that, based on the narrowing and how the baby’s heart is functioning, the baby might need a medication called prostaglandin right away and may have to be in the ICU for pediatric heart patients at U of M.

While hearing these things was scary for Meredith, she was grateful for the positivity of her healthcare providers. “They were very positive, which I appreciated,” she said. “They explained that in the world of heart defects, this is a mild or very treatable one. And so, they assured us that our baby will likely go on to live a totally normal life.”

Giving Birth

At her 32-week ultrasound, they discovered that her baby was breech. Her doctors told her that if the baby did not turn on his own, she would need a C-section.

Meredith did end up giving birth via C-section. “I had a very positive C-section experience and definitely would share that with anyone who was wondering,” she said.

Thankfully, her doctors did not find anything exceptionally alarming regarding her baby, Grahm’s, heart. “The doctors said that ‘his heart is functioning normally and we don’t think he needs the medication or any intervention from us right now, so he can go to your room’,” Meredith said. “And I just remember being so happy that he was going to come up and be able to stay with us overnight.”

Doctors told her that they would continue to follow up with Graham’s condition to ensure everything was fine. At 5 months old Graham is still doing great. While the narrowing is still there, it’s not affecting the functioning of his heart.

A Surprise Choriocarcinoma Diagnosis

After giving birth, Meredith was happy to hear that Graham did not need surgery. However, she was surprised by some other health-related news. While still in the hospital, she received a message on her U of M portal that the pathologist who looked at her placenta wanted her to receive an HCG test. Unfortunately, her test results showed a rare cancerous tumor in her placenta called a choriocarcinoma.  She was then referred to the oncology department.

Meredith underwent some more testing such as a pelvic ultrasound, a chest X-ray, and a CTE. Everything came back clear, and there were no further signs of cancer. Meredith continues to have her HCG levels checked but is currently still cancer-free.

To listen to other Healthful Woman podcasts on pregnancy, please visit www.mfmnyc.com or www.healthfulwoman.com .

Carnegie Imaging for Women blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!