Mariella's Congenital Cystic Adenomatoid Malformation (CCAM) Story
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Before Mariella was born, her parents, Joyce and Mike, received the frightening news their unborn baby girl had a large cyst, and she might not survive. Today, the almost-3-year-old loves cuddling with her stuffed animals and chasing her brother around. Find out how she got where she is today.
A mass called a congenital cystic adenomatoid malformation (CCAM) was taking up valuable space in Mariella's chest and pushing her developing heart and lungs out of place. This can prevent the heart from functioning properly, leading to fluid buildup that can result in heart failure (fetal hydrops).
After receiving little hope and limited options from fetal specialists near their home in Washington, D.C., a friend of a friend, who happens to be a fetal surgeon, recommended the couple seek a second opinion at Children's Hospital of Philadelphia (CHOP). Just a few hours away, CHOP's Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment sees a higher volume of CCAMs and similar birth defects than any other program in the world.
That second opinion led to a fetal intervention that saved Mariella's life.
Mariella's mom, Joyce, recounts their family's difficult journey and how despair turned to hope:
My son, Nathaniel, came early at 35 weeks, so when I got pregnant again, my doctor recommended either weekly progesterone shots or a biweekly cervical check. Since I hate shots, I opted for the cervical check. "Hey, I'll get to see the baby every two weeks, that's a win win," was my thought! So far, my pregnancy had been relatively normal, and genetic testing at 13 weeks revealed we were having a girl. All the other testing recommended for "older" moms (since I was over 35) came back fine, too.
I was finally getting over morning sickness and just beginning to show when I went to the doctor for a cervical check on Halloween. The sonographer walked me back to an exam room and we chatted about the weather and how I was feeling while she got me ready for a sonogram. Because I was 19 weeks along, she decided to do the anatomy check. While she started snapping pictures, I continued bantering, before I realized that she had suddenly stopped responding. An awkward silence filled the room. I looked up at the sonogram and instead of typing "leg" or "hand" on the screen, she was typing "cyst." I didn't comprehend. She finished up the sonogram and said that I would be meeting with the doctor.
As I was getting dressed, I called my husband to tell him that something was up. I still wasn't processing it. He rushed to the doctor's office to wait with me. Three hours later, the OB came in and told us that they found a cyst on the baby and that they think it is a congenital cystic adenomatoid malformation (CCAM).
All I could do was stare at her blankly, before I asked: "Well, there must be something that they can do right? What's the treatment?" This is when she told us that in many cases, this type of condition can be terminal for the baby, because she had already developed hydrops. Terminal. That means no baby girl, no little sister, no baby cuddles or coos.
In the whirlwind that followed, my doctor's office set up an appointment for an MRI and consultation with local fetal specialists for that following week. I spent a week frantically doing the only thing I could do in this situation - combing the web for any and all information about CCAMs. We turned to friends and family, including a friend of a friend who is a fetal surgeon in Houston. He talked to us about the condition and advised us to wait until we had the MRI.
That first MRI revealed the largest CCAM our local fetal specialists have ever seen. The surgeon gave us little hope and said that "if lungs aren't there at birth, they can't grow them." The strong impression I get is that it is impossible to save our baby.
However, our fetal surgeon friend in Houston said that if we were exploring every option (and given how close we are to Philadelphia), we should consider going to CHOP. Because CHOP sees more of these types of conditions than any other children's hospital, he said they may have other options.
He contacted Dr. Moldenhauer, an attending high-risk obstetrician at CHOP, who responded within 30 minutes on a Sunday. We connected with a fetal therapy coordinator from CHOP's Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment on Monday and journeyed the 2.5 hours up to Philadelphia on Tuesday. The CHOP specialists acknowledged that the lesion is rather large, but wasn't the largest they had seen. For the first time, we had hope, because the CHOP doctors provided options.
Over the next month, I endured multiple sonograms, shots of all shapes and sizes (steroids to prevent further growth of the mass), and fetal surgery. Dr. Johnson inserted a shunt through the uterus and placenta to reach the baby, in an attempt to reduce the overall size of the CCAM. The shunt worked (reducing the size of the fluid-filled parts of the mass and resolving the hydrops), and we moved our entire family to Philadelphia a month before our daughter's planned due date.
On a snowy winter morning, March 6, 2015, we welcomed Mariella into the world. She was delivered by C-section to resection, which means she immediately was taken to have surgery where Dr. Flake removed the rest of the mass.
It was a rough few days. I liked to call her the social butterfly of the N/IICU because she seemed to want to meet everyone in the Hospital - she had a consultation with pretty much every specialty. She was having trouble recovering and was eventually put on ECMO (heart lung bypass) for two weeks to rest her lungs. On her original due date (March 27), Mariella finally came off ECMO. I like to think that she knew that she wasn't supposed to be out of the womb prior to that point which is why she put us through our paces.
After that, Mariella quickly met each of her challenges, and a few weeks later I finally got to hold my baby girl. On June 4, we finally brought her home.
Today, Mariella is a lively almost-3-year-old little girl who enjoys running around with her brother and playing with her stuffed animals. She swims like a fish and is fearless in her gymnastics. Her fine motor and verbal skills are also above average - she loves to sing, read and paint, and never stops talking.
Her journey isn't over by any means, but we know we wouldn't have her without what CHOP has done, and continues to do. She is a miracle and we are so grateful and thankful to have her.