We had our week 20 "big" ultrasound yesterday; Tim came with me to see how the baby was doing. It was so fun to see all the bones in place, count the fingers and toes, and close our eyes when the technician scanned "down there". (She said the baby's legs were closed, so we don't even know if she saw anything.)
But when she went off to get Dr. Lu to do his routine check on the u/s, what had seemed routine soon became obvious was not. Dr. Lu spent about ten minutes scanning the baby's heart. I finally asked him what he was looking for, and he said he was having a hard time looking for something, the baby's arm was blocking one view.
We got a few stats during the scan, and the tech also videotaped a few minutes showing the various body parts. We got to hear Baby's heartbeat at 131 beats per minute, baby weighs 14 ounces, the placenta is far away from the cervix (a good thing), the umbilical cord has all three veins and arteries it needs and looked good, there was plenty of amniotic fluid, placenta was a good size, and baby was moving around. Baby is measuring at 21 weeks, so a week ahead, which means baby is strong and healthy otherwise.
Dr. Lu asked us to come back to his office to explain what he saw and what he did not see. He immediately told us that he believes the baby has a heart defect. He said that he could not find a fourth chamber of the heart, and that the way the blood was flowing indicated it was not flowing normally. (On the u/s, we saw a mix of red and blue flowing together like in a cloud.) He explained that it appeared the baby has "hypoplastic left heart", a Congenital Heart Defect (CHD). From what we read online, it appears that our baby will require open heart surgery within the first week of life, the first of perhaps three surgeries by the age of four. So sadly, we will not be able to bring our baby home with us after birth. The baby will probably have difficulty breast feeding, and I am saddened with knowing this, that our bonding time will be so disrupted.
Tim and I will need to return to the office on Wednesday, 6 August, for a fetal echocardiogram. A pediatric cardiologist will run a new scan of the baby's heart to determine the severity of the defect and confirm the diagnosis. The doctor is the chief of the cardiology department at Children's Mercy Hospital, which was ranked number ten in the nation in 2003. Our baby should be in good hands.
Dr. Lu also mentioned one other thing that shook us both. Having a heart defect is a symptom of a chromosonal disorder, "DiGeorge Syndrome." He probably mentioned it because he has to. But it is like this analogy: all apples are fruit, but not all fruit are apples. So every baby with DiGeorge Syndrome has a heart defect, but not all babies with heart defects have this disorder. When you think of the statistics on babies being born, there are almost 1:100 with CHD. The prevalence of DiGeorge syndrome is debated; the estimates range from 1:4000 to 1:6395.
Tim and I spent the afternoon in a daze. Just the night before we were joking about the baby registry and he was urging me to make a decision on what color paint to use on the nursery walls so he could finish that task. The pure joy of our smooth pregnancy was still intact. Now here we were, making phone calls to family members and coping with the bad news we uncovered on the Internet.
This fetal echocardiogram will be scheduled for the day before we leave for our week in Michigan. The baby shower is three days later. Although it seems like the shower should be canceled, Tim and I decided we would prefer to have the shower. One of my internet friends who was expecting twins, but whose son only had two of the veins and arteries in his umbilical cord, shared her experience, "We also had to go to our shower out of state on a Saturday knowing Monday's u/s would be our big day to find out if anything was going on with our boy. It was a good weekend and we were able to get it off of our minds and focus on the wonderful gifts everyone had bought for our new family members." It is through other people's experiences that we learn how to cope and deal with our situation.
Another internet friend has created this blog for her family: Rebecca's son Jasper's heart journey. She is due six days before our baby, and her son Jasper has also been diagnosed with a CHD. By writing to each other, we help each other out.
As I've mentioned before, our next door neighbor is due about three weeks ahead of me. She had her big scan Thursday, too. She called me before she left to see how mine was, and of course, I could not bear to answer the phone. She called again that evening, and this time I told her what happened. I didn't want to worry her during her own scan.
Well she told her husband who came over and rang our bell. Can you believe this? His fourth daughter was born in 1982 and was the tenth baby in the world to have the shunt installed right after birth, with all the follow up surgeries until age 13 (which they told her father was now being done to 4 year olds). She was born with the same CHD that our baby has preliminarily been diagnosed with! His words were so reassuring on such a bleak day. The daughter is now 26 and he says she is the kindest person due to her experience. He said she does get the flu more often than other people, but otherwise is very healthy. He told his daughter to live as full a life as she wanted to, but not to run in any marathons! He wanted to let us know so that we could have some hope at this time. He also added that he bonded with his baby daughter in the hospital by letting her hold on to his pinky. She knew it was his and not a nurse's and felt much calmer.
After living with the diagnosis for 24 hours, I called Dr. Lu with a few questions and went over the answers with Tim. I asked Dr. Lu if he saw anything else during the scan that would seem to indicate our baby might test positive for "DiGeorge Syndrome" and he said no, it was simply having a heart defect that caused him to mention it. I asked if a 3D scan of the baby's face would help us to recognize any facial disfigurements that would indicate a chromosonal disorder, and he said that the doctors don't find 3D ultrasounds to be helpful in diagnosing facial features. Scans are more useful after 27 weeks, when a baby's face has more fat and liquid in the tissues, which helps to plump out the facial features. For example, he stated that 3D ultrasounds only pick up 10% of all cleft palates prior to birth. I asked him about the rates of miscarriage for performing an amniocentesis at their clinic. (The national average is 1:300.) He said that they average between 1:400 and 1:500, but that complications arise in 1:200. They perform several amnios per week and are quite experienced with them. If I was to do an amnio, I would need to speak with a genetic counselor beforehand who would discuss the information that would be found and the rates of false negatives, etc.
Since Tim and I wouldn't be terminating the pregnancy, it seems pointless to us to risk a miscarriage, even though the rates are much better than nationally. And the odds of just having a CHD and not the Syndrome are in our favor. So for now, we have chosen to wait until the later stages of the pregnancy and request a 3D scan then to look at the facial features, then go with an amnio if we see something suspect. If a baby is born after 35 weeks, it has a much better chance at being fully formed and healthy.
In the meantime, we choose to believe our baby's path in life will follow that of the healthy daughter of our next door neighbor.
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