The appointment was routine. I asked about the First Trimester Screening (a blood draw and sonogram that is used to identify potential abnormalities). The midwife wrote up the order, and we were on our way.
Eleven days later I arrived at Washington Radiology Associates for my screening. Dave had stayed home. After all, I was 29 and healthy - nothing to worry about right? Wrong. I settled in for my sonogram and the tech was nice but pretty quiet. Soon the doctor came in to discuss her findings and to conduct his own short exam. The main predictor in abnormalities during this test is what's called the Nuchal Translucency or the NT measurement. Every baby has a collection of fluid behind its neck in early pregnancy. A normal measurement is considered under 3mm. My measurement was 6.1mm. Clearly something wasn't right. The doctor assured me that it could be nothing. The tech drew my blood and I was sent on my way to wait for the official results.
A week later we received a call from the midwife with my probabilities. Because the First Trimester Screening isn't a diagnostic test, the results are presented as probabilities of certain abnormalities. We were told that we were within the normal range for Trisomy 18 and Trisomy 13 (both are fatal chromosomal abnormalities), but that we had a 1 in 6 chance of our baby having Down Syndrome (Trisomy 21). Obviously this was not welcome news. We had a meeting with a genetic counselor at Greater Washington Maternal Fetal Medicine, and I had my blood drawn for a Free Cell DNA Screening Test called Panorama. The Panorama test is able to find fragments of the baby's DNA in my blood and analyze it for abnormalities. It's still a screening test, but the results are promoted as being 99% accurate. I also scheduled an amniocentesis to be conducted at 16 weeks. An amniocentesis was the only diagnostic test available for identifying chromosomal abnormalities in utero at that point in my pregnancy.
A week later we received the Panorama results - low risk for Trisomy 18, 13, and 21. Great news! The test also screened for a few less common abnormalities known as microdeletions (when parts of chromosomes are missing). Our results were low risk for those as well. We were relieved but knew that only the amnio could give us truly reliable answers.
On October 10 Dave and I arrived at the maternal fetal medicine office for the amniocentesis. A detailed sonogram is done prior to conducting the procedure to search for physical abnormalities. Again, the tech was excellent but relatively quiet. The doctor came in after she concluded her evaluation, and they looked at the baby together. At this point I knew something was off. They were talking in "doctor speak," but I'm smart enough to know when something is amiss. After a few minutes they clued us in to their findings. They showed us the baby's heart and then pointed out a black mass next to it. "That's the baby's stomach," they explained. Now I'm not a doctor, but I know enough about basic human anatomy to know that the stomach shouldn't be in the chest cavity. The baby's heart was on the right side instead of the left, pushed over by the stomach. The doctor continued, "Your baby has what's called a Congenital Diaphragmatic Hernia." He went on to explain that for reasons unknown to doctors, the development of the diaphragm is compromised in some babies - about 1,600 a year, in fact. Basically, the diaphragm didn't close properly allowing the organs to migrate into the chest cavity. This was quite a shock, even though I knew deep down something was wrong. I mean, there had to be a reason for the high NT. Be that as it may, I wasn't really prepared to learn that our baby has CDH.
The main concern with CDH is the development of the lungs since the organs constrict their growth. CDH babies have a 50/50 survival rate due to this complication. The doctor gave us some information on the condition and urged us to schedule a consultation with the Children's Hospital of Philadelphia (CHOP). We agreed and he facilitated our initial communication with CHOP. The amnio itself went very well, but it wasn't exactly pleasant. A long needle through the abdomen rarely is. Regardless, I knew it was important to find out as much as we could, especially since chromosomal abnormalities can be associated with CDH.
We went home and started researching CDH. CHOP called that afternoon and we set-up a consultation for November 5. We will head to Philly on the 4th since our day starts at 7:00am on the 5th. We will receive a tour of their facility and have multiple tests run: a high level sonogram lasting about two hours, a fetal MRI to get a better idea of where the organs are, and a fetal echocardiogram to determine if any heart defects are present. After the tests we will meet with a team of doctors including pediatric surgeons to go over the results and to diagnose the severity of the hernia.
We haven't visited CHOP yet but have already decided to give birth there. CHOP has a delivery unit specifically for babies with birth defects. This is pretty revolutionary for a children's hospital. Our baby will need immediate intervention, and CHOP is one of the best facilities in the nation for CDH. In fact, they quote their survival rate at 70% - a full 20% higher than the average. People from around the world go to CHOP, so they're used to out-of-towners. As it currently stands we will relocate to Philadelphia when I'm about 34 weeks (early February). We will likely stay at the Ronald McDonald House (a wonderful charity), and I will be constantly monitored until I go into labor. After the birth, a team of doctors will get to work trying to stabilize the baby. Once stabilized, the baby will be moved to the NICU. Surgery will be necessary and will be completed as soon as the doctors feel the baby can handle it. Best case scenario: we are able to come home in few months. Worst case scenario: we come home without our baby. NICU stays can be long and challenging, and it's impossible to know how the baby will cope with surgeries and to know how well the lungs will do on their own. All we can do is hope that things go well.
CHOP has a great website and YouTube channel with tons of great information:
CHOP's CDH Site
CHOP CDH YouTube Channel
This week we received our full amnio results and are happy to report that everything is clear. We are also thrilled to announce that we are expecting a GIRL! I am also having a microarray test done on the baby's DNA. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It is a high-resolution whole-genome screening that can identify major chromosomal aneuploidy as well as the location and type of specific genetic changes that are too small to be detected by conventional karyotyping. Simply put, it's like an amnio on steroids. It is important for Dave and I to receive all of the prenatal testing currently available since any additional issues can make successful CDH treatment nearly impossible. We are doing our best to ensure we make the most informed decisions for our baby girl.
We understand that this is a lot of information and that you may have questions or may want to reach out. This is fine! The purpose of this blog is to keep everyone informed throughout this process; it's not to keep friends and family at arm's length. We welcome your well wishes, prayers, and support.
In the coming posts we will describe some of the challenges CDH babies face and some of the hurdles our daughter will have to overcome. We will also provide updates as we learn more about her condition and treatment.
Thanks for reading and for your love and support.
XOXO,
Allison & Dave
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| Just kickin' back completely unaware of how much stress she's causing Mommy and Daddy. |
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| Hi everybody! |
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