All Hands On Deck: Coordinated Care Across UPMC Magee-Womens Hospital Helped Ashley Disantis Deliver Twin Boys
Today, Ashley Disantis is a mom to 1 ½-yearold twin boys, but three years ago she wasn’t sure if she would be able to have children. She and her husband, Eddie, struggled to conceive a child.
“We tried for quite a while to get pregnant, but couldn’t,” said Ashley.
The couple turned to the Center for Fertility and Reproductive Endocrinology at UPMC Magee-Womens Hospital. In conjunction with their physician, they decided to proceed with intrauterine insemination (IUI). The goal of IUI is to improve the chances of fertilization by increasing the number of healthy sperm that reach the fallopian tubes when a woman is most fertile.
At first, everything seemed routine. But not long after the procedure, Ashley began to experience troubling symptoms, starting with back pain so intense that she could barely move.
“Then I grew dizzy and lightheaded,” Ashley recalled. “Eddie rushed me to the hospital, where I began vomiting. They thought I had an infection, but things kept escalating. My blood pressure skyrocketed; my sodium level dropped – I was so sick I had to be admitted to the intensive care unit (ICU).”
While in the ICU, doctors started her on aggressive antibiotic treatment and stopped her fertility medications. She responded to this course of treatment immediately and was released a few days later.
“I took some time off from fertility treatments. When I was ready to try again, we tried to move forward without using progesterone (a hormone that prepares a person’s body for and supports pregnancy). It wasn’t successful, so when we tried a third time, we added progesterone back into the treatment plan,” said Ashley.
But within two days, she was back in the ICU.
Physical reactions to progesterone are extremely rare, and Ashley’s symptoms weren’t allergic in nature, nor did her physicians think she had an infection this time. Steven Abo, MD, a gastroenterologist who practices at UPMC Magee-Womens Hospital, was asked to consult on Ashley’s case. He thought she had porphyria, a rare group of disorders resulting from the buildup of natural chemicals that produce porphyrin, a protein in red blood cells that bind iron and carry oxygen to organ and tissues.
Porphyria is often genetic, and Ashley realized she inherited the condition from her maternal grandmother. Most often, it either attacks the skin or the nervous system. In Ashley’s case, her nervous system suffered. Progesterone, which the body requires to maintain a pregnancy, triggered her attacks. According to the National Institute of Diabetes and Digestive and Kidney Diseases, porphyrias affect fewer than 200,000 people in the United States.
“Porphyria is extremely rare, and interesting because there are so many triggers,” said Allison Serra, MD, a maternal-fetal medicine specialist with the high-risk clinic at UPMC Magee-Womens. “It’s a condition you read about in medical school but don’t often see in practice.”
Pursuing the family Ashley wanted required coordination with multiple departments across UPMC, including reproductive endocrinology, maternal-fetal medicine, hematology, and pharmacy. This decision particularly required the support and expertise of Magee’s high-risk maternal-fetal medicine team, with Dr. Serra leading the effort.
“My role in Ashley’s care was to think through and plan for contingencies with her and the other physicians caring for her. I had never cared for a patient with this type of porphyria before so it was a huge learning curve for me,” said Dr. Serra. “Dr. Roy Smith, a UPMC hematologist, helped us understand how we would need to respond if Ashley had an attack during pregnancy, and with his guidance, our Magee inpatient pharmacy worked hard to make sure that if she did, we would have the right medication and other resources ready to treat her at any time during pregnancy or in the process of trying to conceive. We also knew that if she had a porphyria attack while pregnant, there was a real chance she wouldn’t be able to carry her pregnancy to term.”
Ashley and Eddie tried another IUI round without progesterone, but she ended up in the ICU a third time with a porphyria attack despite the lack of the hormone.
After several difficult conversation among Ashley, Eddie, and her team of physicians, Ashley and Eddie chose to proceed, under the supervision of multiple Magee experts, with in vitro fertilization (IVF) supplemented with progesterone. IVF is different from IUI because the egg is fertilized outside the body and then implanted.
“It wasn’t an easy decision to move forward,” Ashley said. She endured weekly intravenous infusions of a medication to counteract her body’s reaction to the progesterone. “No one knew how my body would handle the pregnancy, or the course of treatment.”
All the planning worked. Ashley underwent a single embryo transfer, supported with progesterone and proactive medication to counteract a potential porphyria attack. She became pregnant with twin boys and had healthy pregnancy supported by her Magee team. At 32 weeks, she delivered Robert and George. Because of their early arrival, they spent a few weeks in Magee’s neonatal intensive care unit. Today, they are healthy, happy baby boys meeting all their developmental milestones.
“All of us are doing so well,” said Ashley. “I’m grateful Magee was willing to work with us so we could have the family we dreamed about.”
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