At age 16, Susan still hadn't gotten her period. She wasn't especially worried, but her mother took her to a doctor near their hometown of Dublin, Ireland, to make sure that everything was OK.
"I thought the doctor was just going to hand me a hormone tablet and send me on my way," remembers Susan. The doctor told Susan she'd need a physical exam or an MRI to rule out the remote possibility that her period didn't come because she didn't have a uterus, due to a condition called Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).
During the next month, Susan worried constantly about the results. She dwelled on how not having a uterus would affect her ability to have children. The night before she would learn the results, her friends told her not to worry; the next day, things would be better. "I just kept thinking, No, tomorrow everything could be terrible," she says.
Even with her mother and father at her side in the waiting room, Susan felt scared and vulnerable. To keep her spirits up, she listened to songs on her iPod about people overcoming challenges. After two long hours, her name was called. "When I finally saw my doctor, she told me I was in the waiting room so long because her other patients were 'quickies,'" says Susan. "That's when I knew. She told me, 'Your womb didn't develop,' and she wrote 'MRKH' on a post-it note, saying, 'There's nothing we can do for you here.'"
"I couldn't see, I couldn't breathe," says Susan. "I always pictured myself having children. I felt like someone had taken that picture and ripped it up into a million little pieces and then let them go in a hurricane." Susan spent the next year avoiding thinking about her diagnosis. As the year drew to a close, though, she researched her condition online.
She learned that it's uncommon for girls to be born with underdeveloped reproductive systems, but not exactly rare: The condition affects one in 5,000 to 10,000 girls. Girls with MRKH have ovaries and fallopian tubes, but rarely have a uterus. This means that while they can produce eggs, they aren't able to carry a baby themselves. Susan also learned that there's no known cause. She was born with Klippel-Feil syndrome, which means she has a short neck and joined kidneys. And while this doesn't negatively affect her health in any way, conditions like these sometimes go hand-in-hand with MRKH.
During her online exploration, Susan also learned that she—like other girls with MRKH—was also born without a vaginal canal.
Soon, Susan and her mother traveled to London to meet with doctors who had some experience treating young women with MRKH. "During the appointment, I was using every muscle in my body not to break down, but I couldn't stop myself," she says. But these doctors gave her some information that put her more in control of her condition: They told her that women don't actually need to treat MRKH at all. She could lead a perfectly healthy life without a uterus and vaginal canal.
Susan's doctor explained her treatment options: There were only rare and radical opportunities for treating uterine absence - uterine transplants have been done before, but they are not common. Instead, Susan could start dilation, a process to help complete her vaginal canal, so that at least one part of her condition could be treated. Of the various methods doctors have devised to do this, dilation has proven the simplest, the most successful and also the most comfortable.
Now 18, Susan prepared herself for a three-day visit with doctors at a hospital in London, who would help her go through the dilation process. However, her clinicians there did not tell her that dilation would be an going treatment—Susan was told that the process would only need to be short-term to yield long-term benefits. They were wrong.
Meanwhile, Susan's mother had heard about the Center for Young Women's Health (CYWH) at Children's Hospital Boston—a program dedicated to helping girls and young women with reproductive and gynecological health issues. Marc Laufer, MD, chief of the Division of Gynecology and Jean Emans, MD, chief of the Division of Adolescent/Young Adult Medicine, created the center, and now the CYWH holds a conference each year for patients and families from all over the world to learn about MRKH.
Susan decided to fly all the way to Boston. Listening to Laufer speak, Susan learned that in order to maintain her vagina, she would have needed to continue dilation through subsequent years—a fact that her doctors in London hadn't mentioned. She approached Laufer and Phaedra Thomas, RN, BSN, nurse educator at the CYWH, to arrange an appointment at Children's.
During her appointment, Susan's fears were confirmed: She would need to begin the dilation process again. Realizing that this would be the third time she would attempt to conquer this, she became overwhelmed with emotions. "I couldn't even cry, I was so frustrated," she says. But she had a feeling that her treatment at Children's would be different, especially since Thomas was so encouraging. "Phaedra looked at me and said, 'You're with us now,'" she remembers with a smile.
Laufer has been treating young women's gynecological conditions for more than two decades, and sees more women with MRKH than any other doctor in the world. In addition to having written the official guidelines on dilation for the American Congress of Obstetricians and Gynecologists (ACOG), Laufer has conducted research showing that dilation is 92 percent successful, much less risky than surgery and more cost efficient.
This treatment may seem like the obvious choice, but, as Susan experienced in Dublin and London, not all doctors know how to properly administer it. "Lots of gynecologists have only read about MRKH in a textbook," says Laufer. "There are only a handful of places around the country that have experience treating it successfully."
Because there are so few hospitals with Children's level of expertise, Laufer's team draws patients from all over the world, and the young women he sees have wildly different views about sex and fertility, depending on their culture. To help young women deal with the array of emotions that accompany MRKH, the CYWH brings together young women from different backgrounds each month for a moderated online chat, during which girls ask each other questions and share stories. "The chats give young women an opportunity to be supported in a safe environment where they can remain anonymous if they wish," says Thomas. "Depending where the girl lives, the chats could take place at 2 am, but they wouldn't miss it." Susan found them hugely helpful too. "During the times when I feel like MRKH affects me the most, it's great to know the chats are there," she says.
After their appointment, Laufer asked Susan if she was ready to try dilation again. The CYWH emphasizes that a young woman's decision whether to change her body is elective, and shouldn't be influenced by pressure from doctors or even her parents. There is no specific age when girls can decide to begin dilation. "It's the young woman's body, and even though her parents may want to fix the problem, she might not be ready to address it until a point in her future," says Laufer. For Susan, she found she was ready. "I wanted to know that I could feel like any other girl and dilating would allow me to do that," she says.
Susan went home with a dilator and instructions, and this time, had all the control and knowledge she needed. Children's arranges for patients to go through the process in their own home, at their own pace. For two months, she used the dilator twice a day, and then flew back to Boston for an examination. Laufer congratulated her: She had successfully completed the process by herself. And this time, she had the knowledge to maintain it. "I cried with relief when he told me that," says Susan. "I hadn't cried that much in a long time. It felt so good."
Susan's choice comes with a high reward. She can have her own children some day, should she choose to, using her own eggs and a gestational carrier. Now 22, she's enrolled at a university in Dublin, plays hockey, has a close circle of friends and plans to pursue a career in psychology. Her life is no longer defined by a diagnosis. "I used to think that no one could really know me until they knew that I had MRKH," Susan recalls. "Now it just helps me value all the other aspects of who I am."